51664 Federal Register / Vol. 74, No. 193 / Wednesday, October 7, 2009 / Rules and Regulations 

DEPARTMENT OF THE TREASURY 

Internal Revenue Service 

26 CFR Part 54 

[TD 9464] 

RIN 1545–BI03 

DEPARTMENT OF LABOR 

Employee Benefits Security 

Administration 

29 CFR Part 2590 

RIN 1210–AB27 

DEPARTMENT OF HEALTH AND 

HUMAN SERVICES 

Centers for Medicare & Medicaid 

Services 

45 CFR Parts 144, 146, and 148 

RIN 0938–AP37 

Interim Final Rules Prohibiting 

Discrimination Based on Genetic 

Information in Health Insurance 

Coverage and Group Health Plans 

AGENCY: Internal Revenue Service, 

Department of the Treasury; Employee 

Benefits Security Administration, 

Department of Labor; Centers for 

Medicare & Medicaid Services, 

Department of Health and Human 

Services. 

ACTION: Interim final rules with request 

for comments. 

SUMMARY: This document contains 

interim final rules implementing 

sections 101 through 103 of the Genetic 

Information Nondiscrimination Act of 

2008. These provisions prohibit 

discrimination based on genetic 

information in health insurance 

coverage and group health plans. 

DATES: Effective Date: These interim 

final regulations are effective on 

December 7, 2009. 

Comment Date. Comments are due on 

or before January 5, 2010. 

Applicability Dates: Group market 

rules. These interim final regulations for 

the group market apply to group health 

plans and group health insurance 

issuers for plan years beginning on or 

after December 7, 2009. 

Individual market rules. These 

interim final regulations for the 

individual market apply with respect to 

health insurance coverage offered, sold, 

issued, renewed, in effect, or operated 

in the individual market on or after 

December 7, 2009. 

ADDRESSES: Written comments may be 

submitted to any of the addresses 

specified below. Any comment that is 

submitted to any Department will be 

shared with the other Departments. 

Please do not submit duplicates. 

Department of Labor. Comments to 

the Department of Labor, identified by 

RIN 1210–AB27, by one of the following 

methods: 

• Federal eRulemaking Portal: http:// 

www.regulations.gov. Follow the 

instructions for submitting comments. 

• E-mail: E-OHPSCA.EBSA@dol.gov. 

• Mail or Hand Delivery: Office of 

Health Plan Standards and Compliance 

Assistance, Employee Benefits Security 

Administration, Room N–5653, U.S. 

Department of Labor, 200 Constitution 

Avenue, NW., Washington, DC 20210, 

Attention: RIN 1210–AB27. 

Comments received by the 

Department of Labor will be posted 

without change to http:// 

www.regulations.gov and http:// 

www.dol.gov/ebsa, and available for 

public inspection at the Public 

Disclosure Room, N–1513, Employee 

Benefits Security Administration, 200 

Constitution Avenue, NW., Washington, 

DC 20210, including any personal 

information provided. 

Department of Health and Human 

Services (HHS). Comments to HHS, 

identified by CMS–4137–IFC, by one of 

the following methods: 

• Federal eRulemaking Portal: http:// 

www.regulations.gov. Follow the 

instructions for submitting comments. 

• Mail: Centers for Medicare & 

Medicaid Services, Department of 

Health and Human Services, Attention: 

CMS–4137–IFC, P.O. Box 8017, 

Baltimore, MD 21244–8010. 

• Hand or courier delivery. 

Comments may be delivered to either 

7500 Security Boulevard, Baltimore, MD 

21244–1850 or Room 445–G, Hubert H. 

Humphrey Building, 200 Independence 

Avenue, SW., Washington, DC 20201. 

For delivery to Baltimore, please call 

telephone number (410) 786–7195 in 

advance to schedule your arrival with 

one of our staff members. For delivery 

to Washington, because access to the 

interior of the HHH Building is not 

readily available to persons without 

Federal Government identification, 

commenters are encouraged to leave 

their comments in the CMS drop slots 

located in the main lobby of the 

building. A stamp-in clock is available 

for persons wishing to retain proof of 

filing by stamping in and retaining an 

extra copy of the comments being filed. 

All submissions submitted to HHS 

will be available for public inspection as 

they are received, generally beginning 

approximately three weeks after 

publication of a document, at the 

headquarters for the Centers for 

Medicare & Medicaid Services, 7500 

Security Boulevard, Baltimore, MD 

21244, Monday through Friday of each 

week from 8:30 a.m. to 4 p.m. To 

schedule an appointment to view public 

comments, phone (410) 786–7195. 

Internal Revenue Service. Comments 

to the IRS, identified by REG–123829– 

08, by one of the following methods: 

• Federal eRulemaking Portal: http:// 

www.regulations.gov. Follow the 

instructions for submitting comments. 

• Mail: CC:PA:LPD:PR (REG–123829– 

08), Room 5205, Internal Revenue 

Service, P.O. Box 7604, Ben Franklin 

Station, Washington, DC 20044. 

• Hand or courier delivery: Monday 

through Friday between the hours of 8 

a.m. and 4 p.m. to: CC:PA:LPD:PR 

(REG–123829–08), Courier’s Desk, 

Internal Revenue Service, 1111 

Constitution Avenue, NW., Washington 

DC 20224. 

All submissions to the IRS will be 

open to public inspection and copying 

in room 1621, 1111 Constitution 

Avenue, NW., Washington, DC from 9 

a.m. to 4 p.m. 

FOR FURTHER INFORMATION CONTACT: 

Amy Turner, Employee Benefits 

Security Administration, Department of 

Labor, at (202) 693–8335. Russ 

Weinheimer, Internal Revenue Service, 

Department of the Treasury, at (202) 

622–6080. Adam Shaw, Centers for 

Medicare & Medicaid Services, 

Department of Health and Human 

Services, at (877) 267–2323, extension 

61091. 

Customer Service Information: 

Individuals interested in obtaining 

information from the Department of 

Labor concerning employment-based 

health coverage laws, including the 

nondiscrimination protections, may call 

the EBSA Toll-Free Hotline at 1–866– 

444–EBSA (3272) or visit the 

Department of Labor’s Web site (http:// 

www.dol.gov/ebsa). In addition, 

individuals may request a copy of 

CMS’s publication entitled ‘‘Protecting 

Your Health Insurance Coverage’’ by 

calling 1–800–633–4227. 

SUPPLEMENTARY INFORMATION: 

I. Background 

The Genetic Information 

Nondiscrimination Act of 2008 (GINA), 

Public Law 110–233, was enacted on 

May 21, 2008. Title I of GINA amended 

the Employee Retirement Income 

Security Act of 1974 (ERISA), the Public 

Health Service Act (PHS Act), the 

Internal Revenue Code of 1986 (Code), 

and the Social Security Act (SSA) to 

prohibit discrimination in health 

coverage based on genetic information. 

GINA builds on existing protections 


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1These HIPAA provisions generally apply to 

group health plans and health insurance coverage 

in the group and individual markets. 

2Rules on GINA’s application in the individual 

market are solely within the jurisdiction of the 

Centers for Medicare & Medicaid Services at the 

Department of Health and Human Services and are 

discussed later in this preamble. 

3This regulation does not address the application 

of GINA to Medigap issuers, which are subject to 

provisions in section 1882 of the SSA that are 

implemented by the Centers for Medicare & 

Medicaid Services (CMS), and incorporate by 

reference certain provisions in a model regulation 

of the National Association of Insurance 

Commissioners (NAIC). The model regulation 

adopted by the NAIC on September 24, 2008 was 

published by CMS in the Federal Register on April 

24, 2009 at 74 FR 18808. This regulation also does 

not address the additional enforcement authority 

given to the Secretaries of Labor and HHS, relating 

to the use of genetic information, which will be 

addressed in future regulatory guidance. 

4The HIPAA privacy provisions are administered 

by the Office for Civil Rights within HHS, and will 

be the subject of a separate rulemaking. 

5Title II of GINA is under the jurisdiction of the 

Equal Employment Opportunity Commission, 

which issued a notice of proposed rulemaking on 

March 2, 2009, 74 FR 9056. 6Compliance with GINA sections 101 through 

103 is not determinative of compliance with any 

other provision of GINA or any other State or 

Federal law, including the Americans with 

Disabilities Act. 

7Because substantively similar regulation text is 

published separately by the three Departments, and 

the section numbers will all be different, the 

preamble refers only to the paragraph designations 

within those sections. 

8The same definitions apply to the individual 

market regulations under GINA, which are 

discussed later in this preamble, to the extent that 

they are not inconsistent with respect to health 

insurance coverage offered, sold, issued, renewed, 

in effect, or operated in the individual market. 

added by titles I and IV of the Health 

Insurance Portability and 

Accountability Act of 1996 (HIPAA).1

Specifically, the HIPAA portability 

provisions already prohibit a group 

health plan or group health insurance 

issuer from imposing a preexisting 

condition exclusion based solely on 

genetic information. See the 2004 final 

HIPAA portability regulations, 

published in the Federal Register on 

December 30, 2004 (69 FR 78720). In 

addition, the HIPAA nondiscrimination 

provisions already prohibit a group 

health plan or group health insurance 

issuer from discriminating against an 

individual in eligibility, benefits, or 

premiums based on genetic information 

(and other health factors) of the 

individual or a dependent of the 

individual. See the 2006 final HIPAA 

nondiscrimination regulations, 

published in the Federal Register on 

December 13, 2006 (71 FR 75014). 

Sections 101 through 104 of Title I of 

GINA prohibit group health plans, 

health insurance issuers in the group 

and individual markets,2 and issuers of 

Medicare supplemental (Medigap) 

policies from discriminating based on 

genetic information, and from collecting 

such information.3 Section 105 of Title 

I adds section 1180 of the SSA to 

require HHS to revise the HIPAA 

privacy regulations to clarify that 

genetic information is health 

information under the rule and to 

prohibit the use or disclosure of genetic 

information for underwriting purposes.4

Title II of GINA prohibits discrimination 

in employment based on genetic 

information, and limits the acquisition 

and disclosure by employers and other 

entities covered by GINA Title II of such 

information.5 These interim final 

regulations only interpret Sections 101 

through 103 of Title I of GINA, which 

added provisions to Subtitle K of the 

Code, Part 7 of Subtitle B of Title I of 

ERISA, and Title XXVII of the PHS Act.6

References to GINA in the remainder of 

this preamble refer to the group market 

provisions of sections 101 through 103 

of GINA, unless the context clearly 

indicates otherwise. 

On October 10, 2008, the Departments 

published in the Federal Register (73 

FR 60208) a request for information 

(RFI) soliciting comments on the 

requirements of sections 101 through 

104 of GINA. In addition, the 

Departments consulted with and 

obtained technical guidance from the 

scientific community, including the 

National Human Genome Research 

Institute within the National Institutes 

of Health and the Office for Human 

Research Protections, both within HHS. 

The Departments also coordinated with 

the Equal Employment Opportunity 

Commission (EEOC), which has 

responsibility for Title II of GINA, and 

the Office for Civil Rights within HHS, 

which has responsibility for section 105 

of GINA. 

After consideration of the comments 

received in response to the RFI and 

based on the consultations with other 

government agencies, the Departments 

are publishing these interim final 

regulations. For the group market, these 

regulations become applicable to plans 

and issuers on the first day of the plan 

year beginning on or after December 7, 

2009. For the individual market, these 

regulations become applicable with 

respect to health insurance coverage 

offered, sold, issued, renewed, in effect, 

or operated in the individual market on 

or after December 7, 2009. 

II. Overview of the Regulations 

A. Group Market 

While GINA does not mandate any 

specific benefits for health care services 

related to genetic tests, diseases, 

conditions, or genetic services, GINA 

establishes rules that generally prohibit 

a group health plan and a health 

insurance issuer in the group market 

from: 

• Increasing the group premium or 

contribution amounts based on genetic 

information; 

• Requesting or requiring an 

individual or family member to undergo 

a genetic test; and 

• Requesting, requiring or purchasing 

genetic information prior to or in 

connection with enrollment, or at any 

time for underwriting purposes. 

These three general prohibitions are 

subject to rules of construction or 

exceptions included in the statute 

which are discussed in further detail 

later in this preamble. 

1. Conforming Changes to Existing 

Regulations 

Sections 9801 and 9802 of the Code, 

701 and 702 of ERISA, and 2701 and 

2702 of the PHS Act, as originally added 

by HIPAA, included requirements 

pertaining to genetic information but 

did not define the term. The 2004 final 

HIPAA portability regulations included 

a definition of genetic information. 

GINA contains a statutory definition 

of genetic information that differs from 

the definition in the 2004 final HIPAA 

portability regulations. These interim 

final regulations revise the existing 

regulations’ definition of genetic 

information at 26 CFR 54.9801–2, 29 

CFR 2590.701–2, and 45 CFR 144.103, 

to conform to the new statutory 

definition. 

Sections 9802 of the Code, 702 of 

ERISA, and 2702 of the PHS Act, and 

the 2006 final HIPAA 

nondiscrimination regulations prohibit 

discrimination based on a health factor. 

GINA retained the prohibition against 

increasing an individual’s premium or 

contribution amounts based on genetic 

information, and added a new provision 

to prevent plans and issuers from 

adjusting premium or contribution rates 

at the group level based on genetic 

information of one or more individuals 

in the group. Therefore, these interim 

final regulations amend the 2006 

regulations to add clarifying crossreferences. See 26 CFR 54.9802– 

1(c)(2)(i) and (iii), 29 CFR 

2590.702(c)(2)(i) and (iii), and 45 CFR 

146.121(c)(2)(i) and (iii). 

2. Definitions 

Paragraph (a) of these interim final 

regulations 7 provides most of the 

definitions used in GINA.8 Some of 

these definitions repeat the statutory 

language, while others include 

regulatory clarifications. 


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9This definition of the term ‘‘dependent’’ is 

solely for purposes of interpreting sections 101 

through 103 of GINA, and is not relevant to 

interpreting the term under Title II of GINA, which 

is under the jurisdiction of the EEOC. 

10This definition of the term ‘‘genetic test’’ is 

solely for purposes of interpreting Title I of GINA, 

and is not relevant to interpreting the term under 

Title II of GINA, which has a different statutory 

definition. 

a. Collect 

The interim final regulations add the 

defined term ‘‘collect.’’ While ‘‘collect’’ 

was not defined in the statute, this term 

was added to paraphrase the longer 

phrase ‘‘request, require or purchase.’’ 

Thus, under the interim final 

regulations, ‘‘collect’’ means, with 

respect to information, to request, 

require, or purchase such information. 

b. Family Member 

GINA adds a definition of family 

member to sections 9832 of the Code, 

733 of ERISA, and 2791 of the PHS Act. 

The definition of family member 

determines the application of GINA in 

two ways. First, the definition of genetic 

information for an individual includes 

information about the manifestation of a 

disease or disorder in family members 

of the individual. Also, a plan or issuer 

generally may not request or require an 

individual or family member of the 

individual to undergo a genetic test. 

The statute defines a family member 

with respect to any individual as a 

dependent of such individual (as such 

term is used for purposes of sections 

9801(f)(2) of the Code, 701(f)(2) of 

ERISA, and 2701(f)(2) of the PHS Act 

(the dependent special enrollment 

rules)),9 and any other individual that is 

a first-, second-, third-, or fourth-degree 

relative of the individual or of the 

dependent of the individual. The 

legislative history suggests that the term 

‘‘family member’’ be broadly construed: 

‘‘In general, it is intended that the term 

‘family member’ be interpreted broadly 

so as to provide the maximum 

protection against discrimination.’’ 

House Report 110–28, Part 2 at 27. 

Sections 9801(f)(2) of the Code, 

701(f)(2) of ERISA, and 2701(f)(2) of the 

PHS Act provide special enrollment 

rights to certain dependents that are 

eligible for coverage under a group 

health plan due to such family events as 

birth, adoption, or marriage. The 

statutory provisions of neither HIPAA 

nor GINA define dependent, but the 

term is defined in the 2004 final HIPAA 

portability regulations as any individual 

who is or may become eligible for 

coverage under the terms of a group 

health plan because of a relationship to 

a participant. This makes clear that it is 

necessary to consult the plan document 

and other applicable law to determine 

dependent status for purposes of GINA. 

In determining who is a first-, 

second-, third-, or fourth-degree relation 

of an individual, the interim final 

regulations treat relatives by affinity 

(such as by marriage or adoption) the 

same as relatives by consanguinity 

(relatives who share a common 

biological ancestor, or blood relatives). 

The definition also treats relatives who 

are not full blood relatives (such as half 

siblings) the same as full blood relatives. 

In addition, the interim final regulations 

provide non-exhaustive lists of 

individuals who are first-, second-, 

third-, or fourth-degree relatives. The 

Departments invite public comments on 

this definition. 

c. Genetic Information 

The interim final regulations contain 

a definition of genetic information that 

restates and reorganizes the statutory 

provisions. Genetic information is 

defined, with respect to an individual, 

as information about the individual’s 

genetic tests or the genetic tests of 

family members, the manifestation of a 

disease or disorder in family members 

of such individual (that is, family 

medical history), or any request of or 

receipt by the individual or family 

members of genetic services. The 

definition further clarifies that genetic 

information does not include 

information about the sex or age of any 

individual. It also clarifies how GINA 

applies to genetic information about a 

fetus or embryo. As previously noted, 

this definition is a change from the 

definition of genetic information that 

applied under the 2004 final HIPAA 

portability regulations. 

d. Genetic Services 

An individual’s genetic information 

includes any request for or receipt of 

genetic services by such individual, or 

a family member. These interim final 

regulations follow the statutory 

definition. ‘‘Genetic services’’ means a 

genetic test, genetic counseling, or 

genetic education. 

e. Genetic Test 

GINA adds a definition of genetic test 

to sections 9832 of the Code, 733 of 

ERISA, and 2791 of the PHS Act.10

These interim final regulations repeat 

the statutory language, which provides 

that a genetic test means an analysis of 

human DNA, RNA, chromosomes, 

proteins, or metabolites, if it detects 

genotypes, mutations, or chromosomal 

changes. 

The interim final regulations also 

follow the statutory language providing 

that a genetic test does not include an 

analysis of proteins or metabolites that 

does not detect genotypes, mutations, or 

chromosomal changes, or an analysis of 

proteins or metabolites that is directly 

related to a manifested disease, 

disorder, or pathological condition that 

could be reasonably detected by a health 

care professional with appropriate 

training and expertise in the field of 

medicine involved. 

The interim final regulations include 

examples of certain tests that currently 

are regarded as genetic or non-genetic 

tests, as the case may be, based on 

research including consultations with 

representatives from the scientific 

community. However, due to rapidly 

evolving scientific knowledge, it is not 

an exhaustive list. 

f. Manifestation or Manifested 

The concept of manifestation of a 

disease arises in three contexts. First, a 

plan or issuer may increase the 

premium or contribution amount for a 

group health plan based on the 

manifestation of a disease or disorder of 

an individual who is enrolled in the 

plan. Second, the definition of genetic 

information for an individual includes 

information about the manifestation of a 

disease or disorder in family members 

of such individual. Finally, the 

definition of genetic test excludes an 

analysis of proteins or metabolites that 

is directly related to a manifested 

disease, disorder, or pathological 

condition that could be reasonably 

detected by a health care professional 

with appropriate training and expertise 

in the field of medicine involved. 

The interim final regulations add a 

definition of manifestation or 

manifested. A disease, disorder, or 

pathological condition is manifested 

when an individual has been or could 

reasonably be diagnosed by a health 

care professional with appropriate 

training and expertise in the field of 

medicine involved. However, the 

definition further provides that a 

disease, disorder, or pathological 

condition is not manifested if a 

diagnosis is based principally on genetic 

information. 

g. Underwriting Purposes 

GINA includes a definition of 

underwriting purposes. This term is 

discussed later in this preamble, in 

connection with the discussion of the 

prohibition on collecting genetic 

information. 

3. Prohibition on Adjusting Group Rates 

GINA and these interim final 

regulations expand the HIPAA 

prohibitions against discrimination 


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Federal Register / Vol. 74, No. 193 / Wednesday, October 7, 2009 / Rules and Regulations 51667 

11Comments indicated that at least one issuer is 

engaging in a long-term research study involving 

genetic testing. Others may be planning similar 

research. 

based on health factors, by prohibiting 

group health plans and health insurance 

issuers offering health coverage in 

connection with a group health plan 

from adjusting premium or contribution 

amounts for a group health plan or 

group of similarly situated individuals 

on the basis of genetic information. This 

is a change from prior law, which 

allowed plans and issuers to adjust 

premium or contribution amounts for 

the group health plan or a group of 

similarly situated individuals (but not 

for individuals within the group) based 

on genetic information, as well as other 

health factors. This prohibition against 

discrimination is distinct from the 

prohibition on requesting or requiring 

an individual to undergo a genetic test 

and the prohibition on collecting 

genetic information. Therefore, even 

when a plan or issuer has lawfully 

obtained genetic test results or other 

genetic information (for example, an 

acquisition that took place prior to 

GINA’s effective date), the plan or issuer 

is still prohibited—under GINA and 

paragraph (b) of these interim final 

regulations—from using that 

information to discriminate. 

GINA and these interim final 

regulations also provide that the 

prohibition on adjusting premiums or 

contributions based on genetic 

information does not limit the ability of 

a plan or issuer to increase the premium 

or contribution amount for a group 

health plan based on the manifestation 

of a disease or disorder of an individual 

enrolled in the plan. However, a plan or 

issuer may not use the manifested 

disease or disorder of one individual as 

genetic information about other group 

members to further increase the 

premium or contribution amount. 

Moreover, the prohibitions on adjusting 

premium or contribution amounts based 

on genetic information do not prohibit 

a plan or issuer from including costs 

associated with providing benefits for 

covered genetic tests or genetic services 

within the costs of providing other 

benefits in determining premiums or 

contribution amounts. In particular, a 

plan or issuer is not required to reduce 

the aggregate costs of providing health 

benefits for the year by those costs 

relating to benefits for genetic tests and 

services when adjusting group rates. 

These interim final regulations also 

make conforming changes to the 

existing HIPAA nondiscrimination 

regulations regarding the ability to 

adjust premium or contribution 

amounts based on a health factor. 

4. Limitation on Requesting or 

Requiring Genetic Testing 

GINA generally prohibits plans and 

issuers from requesting or requiring 

individuals or their family members to 

undergo a genetic test. There are three 

exceptions to this prohibition, for 

certain health care professionals, for 

determinations regarding payment, and 

for research. 

The first exception allows a health 

care professional who is providing 

health care services to an individual to 

request that the individual undergo a 

genetic test. The health care 

professional must actually be providing 

health care services to the individual for 

the exception to apply. Thus, for 

example, the performance of claims 

review by a health care professional 

would never be considered providing 

health care services to an individual. 

The term ‘‘health care professional’’ is 

not limited to physicians. 

The second exception allows a plan or 

issuer to obtain and use the results of a 

genetic test to make a determination 

regarding payment. For this purpose, 

payment is defined by reference to 45 

CFR 164.501 of the HIPAA privacy 

regulations. However, plans and issuers 

are only permitted to request the 

minimum amount of information 

necessary to make this determination. 

These interim final regulations 

incorporate the standard set forth at 45 

CFR 164.502(b) of the HIPAA privacy 

regulations to determine the minimum 

amount of information necessary. 

In some cases, the appropriateness of 

certain courses of treatment for a patient 

depends on the patient’s genetic 

makeup. A plan or issuer is permitted 

to condition payment for an item or 

service based on medical 

appropriateness that depends on an 

individual’s genetic makeup. Under 

these narrow circumstances, a plan or 

issuer may condition payment on the 

outcome of a genetic test, and may 

refuse payment for the item or service 

if the individual does not undergo the 

genetic test. Any information received 

by the plan to make a determination 

regarding payment, including the results 

of a genetic test, must be used in 

accordance with these interim final 

regulations and the 2006 final HIPAA 

nondiscrimination regulations. 

Under the third exception relating to 

the limitation on requesting or requiring 

genetic testing, a group health plan or 

group health insurance issuer is 

permitted to request, but not require, 

that a participant or beneficiary undergo 

a genetic test 11 if all of the following 

conditions of the research exception are 

satisfied: 

• The request must be made pursuant 

to research that complies with 45 CFR 

Part 46 (or equivalent Federal 

regulations) and any applicable State or 

local law or regulations for the 

protection of human subjects in 

research. Moreover, to comply with the 

informed consent requirements of 45 

CFR 46.116(a)(8), an investigator 

seeking the informed consent of a 

human subject must provide the subject 

with a statement that participation in 

the research is voluntary, refusal to 

participate will involve no penalty or 

loss of benefits to which the subject is 

otherwise entitled, and the subject may 

discontinue participation at any time 

without penalty or loss of benefits to 

which the subject is entitled, except in 

limited circumstances in which an 

institutional review board has approved 

a waiver or alteration of this 

requirement under the requirements of 

45 CFR 46.116(c) or (d). For research in 

which the investigator provides subjects 

with the statement required under 45 

CFR 46.116(a)(8) when seeking their 

informed consent, no additional 

disclosures are required for purposes of 

the GINA research exception. 

• The plan or issuer must make the 

request in writing and must clearly 

indicate to each participant or 

beneficiary (or in the case of a minor 

child, to the legal guardian of such 

beneficiary) to whom the request is 

made that compliance with the request 

is voluntary and noncompliance will 

have no effect on eligibility for benefits 

or premium or contribution amounts. 

• None of the genetic information 

collected or acquired as a result of the 

research may be used for underwriting 

purposes. 

• The plan or issuer must complete a 

copy of the ‘‘Notice of Research 

Exception under the Genetic 

Information Nondiscrimination Act’’ 

(the Notice) and provide it to the 

address specified in its instructions. The 

Notice and instructions are available on 

the Department of Labor’s Web site 

(http://www.dol.gov/ebsa). 

5. Prohibition on Collection of Genetic 

Information 

Paragraph (d) of these interim final 

regulations describes the statutory 

prohibitions against plans or issuers 

collecting genetic information, either for 

underwriting purposes or prior to or in 

connection with enrollment; sets forth 

the statutory definition of underwriting 

purposes; and clarifies that, if an 


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individual seeks a benefit under a plan 

or coverage, the plan or coverage may 

limit or exclude the benefit based on 

whether the benefit is medically 

appropriate (and a determination of 

whether the benefit is medically 

appropriate is not within the meaning of 

underwriting purposes). 

Underwriting purposes is defined 

under GINA and in these interim final 

regulations as including, with respect to 

group health plan coverage, rules for 

and determinations of eligibility 

(including enrollment and continued 

eligibility), computation of premium or 

contribution amounts, and application 

of preexisting condition exclusions. 

Under GINA, the definition of 

underwriting is broader than merely 

activities relating to rating and pricing 

a group policy. These interim final 

regulations clarify that underwriting 

purposes includes changing deductibles 

or other cost-sharing mechanisms, or 

providing discounts, rebates, payments 

in kind, or other premium differential 

mechanisms in return for activities such 

as completing a health risk assessment 

(HRA) or participating in a wellness 

program. 

GINA and paragraph (d) of the interim 

final regulations provide that plans and 

issuers are only prohibited from 

collecting genetic information for 

underwriting purposes or prior to or in 

connection with enrollment. Where an 

individual seeks a benefit under the 

plan, requesting family medical history 

or other genetic information to make a 

determination whether the benefit is 

medically appropriate for purposes of 

payment is neither for underwriting 

purposes nor prior to or in connection 

with enrollment. Therefore, although 

the statutory payment exception only 

applies to requests for individuals to 

undergo genetic tests, these interim final 

regulations provide it is permissible for 

a plan or issuer to request the minimum 

amount of genetic information necessary 

to make determinations regarding 

payment. Specifically, these interim 

final regulations provide that, if an 

individual seeks a benefit under a plan 

or coverage, the plan or coverage may 

limit or exclude the benefit based on 

whether the benefit is medically 

appropriate, and the determination of 

whether the benefit is medically 

appropriate is not within the meaning of 

underwriting purposes. However, a plan 

or issuer is permitted to request only the 

minimum amount of information 

necessary to determine medical 

appropriateness. 

These interim final regulations 

provide clarifications of the statutory 

prohibition against a plan or issuer 

collecting genetic information prior to 

or in connection with enrollment. 

Under the interim final regulations, a 

collection of genetic information with 

respect to an individual is considered 

prior to enrollment if it is before the 

individual’s effective date of coverage 

under the plan or health insurance 

coverage. The determination of whether 

a plan or issuer is collecting information 

before the individual’s effective date of 

coverage is made at the time of 

collection. Providing that the 

determination is made at the time of 

collection means that if a plan or issuer 

collects genetic information with 

respect to an individual in 

circumstances that otherwise would not 

render the collection impermissible and 

at that time it is not being collected in 

connection with a future enrollment, the 

fact that a future enrollment may occur 

does not mean, for purposes of this rule, 

that the genetic information was 

collected before the enrollment. Thus, 

for example, if a plan collected genetic 

information with respect to an 

individual after initial enrollment (and 

not for underwriting purposes), and the 

individual later dropped coverage but 

then still later reenrolled in the plan, 

the collection of genetic information 

after the initial enrollment would not be 

considered prior to the reenrollment. 

Similarly, if a plan affirmatively 

requires individuals to reenroll on an 

annual basis or allows individuals to 

change their enrollment, a collection of 

genetic information made after a current 

enrollment will not be considered made 

prior to a subsequent enrollment unless 

the collection of information is or will 

be used to affect that subsequent 

enrollment. Moreover, if genetic 

information is collected permissibly 

under one plan, the information is 

transferred to a second plan in 

connection with a merger or acquisition 

after this collection, and individuals 

covered under the first plan are 

enrolling for the first time in the second 

plan, the transfer of information to the 

second plan will not be considered a 

collection prior to the effective date of 

coverage under the second plan if the 

collection of information does not affect 

the enrollment status of individuals 

enrolling in the second plan. 

These interim final regulations 

include the statutory exception (to the 

prohibition against collections of 

genetic information prior to or in 

connection with enrollment) for genetic 

information that is collected incidental 

to the collection of other information 

and is not used for underwriting 

purposes. Some commenters suggested 

that some questions that are typically 

included in some HRAs and similar 

documents could easily result in an 

individual providing genetic 

information, even if the question does 

not mention genetic tests or family 

medical history explicitly. An example 

given was, ‘‘Have you had any 

laboratory tests in the past 2 years?’’ 

These commenters suggested plans and 

issuers should be required to inform 

individuals that they should not reveal 

genetic information. 

The interim final regulations clarify 

that if it is reasonable to anticipate that 

health information will be received as 

part of the collection of information, the 

incidental collection exception does not 

apply unless the collection explicitly 

states that genetic information should 

not be provided. If, in connection with 

a collection of information, it is 

reasonable to anticipate that health 

information will be received and the 

collection explicitly states that genetic 

information should not be provided, any 

genetic information provided will be 

considered within the incidental 

exception, as long as it is not used for 

underwriting purposes. 

In response to the RFI, a number of 

comments were received concerning the 

application of the prohibition on 

requesting genetic information for 

underwriting purposes to plans and 

issuers that reward individuals for 

completing HRAs. Of particular concern 

are wellness programs including HRAs 

that request information about an 

individual’s family medical history. 

Another concern is the application of 

the prohibition on requesting genetic 

information for underwriting purposes 

to screening processes for disease 

management programs that use genetic 

tests or family medical histories to 

identify individuals that can benefit 

from the program. 

GINA prohibits collecting genetic 

information for underwriting purposes. 

As described earlier, underwriting 

purposes is defined broadly to include 

rules for eligibility for benefits and the 

computation of premium or 

contributions amounts, and not merely 

activities relating to rating and pricing 

a group policy. Moreover, GINA defines 

genetic information as including family 

medical history. Consequently, wellness 

programs that provide rewards for 

completing HRAs that request genetic 

information, including family medical 

history, violate the prohibition against 

requesting genetic information for 

underwriting purposes. This is the 

result even if rewards are not based on 

the outcome of the assessment, which 

otherwise would not violate the 2006 

final HIPAA nondiscrimination rules 

regarding wellness programs. 

Some comments received in response 

to the RFI urged strongly that a 


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12Earlier bills (for example, S.358, 110th Cong. 

(as reported by S. Comm. on Health, Education, 

Labor, and Pensions) March 29, 2007; H.R. 493, 

110th Cong. (as reported by H. Comm. on Energy 

and Commerce) March 29, 2007) included 

exceptions for wellness programs in both the Title 

I health coverage provisions and the Title II 

employment provisions. As enacted, GINA only 

includes an exception for wellness programs in the 

Title II employment provisions. 

regulatory exception should allow 

wellness programs to provide rewards 

for completing HRAs that request such 

information, notwithstanding the 

statutory prohibition on collecting 

genetic information.12 Other comments 

suggested equally strongly that the 

regulations clarify that wellness 

programs may not collect such 

information as a condition for rewards. 

These interim final regulations do not 

provide an exception from underwriting 

for rewards provided by wellness 

programs, regardless of the amount of 

the reward. Examples generally 

illustrate that any reward given for the 

completion of an HRA that solicits 

information about the individual’s 

family medical history violates the 

requirements of paragraph (d). 

However, plans and issuers can 

collect genetic information through 

HRAs under GINA in certain 

circumstances. A plan or issuer can 

collect genetic information through an 

HRA as long as no rewards are provided 

(and if the request is not made prior to 

or in connection with enrollment). A 

plan or issuer can also provide rewards 

for completing an HRA as long as the 

HRA does not collect genetic 

information. Several examples are 

provided in these interim final 

regulations to illustrate these points. In 

one example, a plan administers two 

distinct HRAs, one that does not request 

genetic information and one that does. 

A reward is provided for completing the 

HRA that does not solicit genetic 

information; the instructions for the 

other HRA make clear that completion 

of the HRA is wholly voluntary and will 

not affect the reward given for 

completion of the first HRA. The 

example concludes that neither HRA 

violates the rules against collecting 

information for underwriting purposes 

or prior to or in connection with 

enrollment. Finally, another example 

illustrates the application of the 

exception for information obtained 

incidentally in the context of the 

acquisition of one issuer by another. 

The Departments invite comment on 

ways in which participation in HRAs 

can be encouraged while complying 

with the statutory prohibition on using 

genetic information for underwriting 

purposes. 

6. Medical Appropriateness 

Paragraph (e) of these interim final 

regulations provides examples 

illustrating how medical 

appropriateness is determined, in 

connection with both the payment 

exception under paragraph (c) and the 

prohibition against collecting genetic 

information for underwriting purposes 

under paragraph (d). Examples illustrate 

the minimum amount of genetic 

information necessary to determine 

payment, the restriction of benefits to 

medically appropriate treatment, and 

the application of the medical 

appropriateness rules to the use of 

genetic information to determine 

eligibility for a disease management 

program. 

7. Special Rules Related to Very Small 

Group Health Plans 

Generally, the provisions of HIPAA 

titles I and IV, as amended, do not apply 

to a group health plan for a plan year 

if the plan is a very small group health 

plan; that is, on the first day of the plan 

year, the group health plan has fewer 

than 2 participants who are current 

employees. GINA and these interim 

final regulations provide that this 

exception for very small group health 

plans is not available for the genetic 

information provisions in Subtitle K of 

the Code, Part 7 of Subtitle B of Title I 

of ERISA, and Title XXVII of the PHS 

Act. 

8. Treatment of Non-Federal 

Governmental Plans 

Section 2721(b)(2) of the PHS Act 

permits the sponsor of a self-funded 

non-Federal governmental plan as 

defined in 45 CFR 144.103 to elect to 

exempt the plan from most of the 

requirements of Title XXVII of the PHS 

Act. This is referred to herein as the 

‘‘opt-out election.’’ However, section 

2721(b)(2)(C)(ii) states that no opt-out 

election is available with respect to the 

requirements for certification and 

disclosure of creditable coverage. The 

PHS Act regulations at 45 CFR 146.180 

implement the foregoing opt-out rules 

under section 2721. 

Section 102(c) of GINA added a 

second limitation on the opt-out rights 

of a self-funded non-Federal 

governmental plan sponsor. Section 

2721(b)(2)(D) of the PHS Act precludes 

any exemption election by a self-funded 

non-Federal governmental plan sponsor 

from GINA’s requirements. The Centers 

for Medicare & Medicaid Services (CMS) 

amended 45 CFR 146.180(h) 

accordingly. 

CMS made certain additional 

conforming changes to other provisions 

of 45 CFR 146.180. In particular, CMS 

deleted the reference in 45 CFR 

146.180(h) to CMS enforcement under 

45 CFR 146.180(k) because paragraph 

(k) makes clear that CMS enforces all 

requirements of part 146 that apply to 

non-Federal governmental plans. CMS 

also revised the last sentence of 45 CFR 

146.180(k), which refers to the 

imposition of a civil money penalty, by 

replacing ‘‘under § 150.305’’ with 

‘‘under subpart C of part 150’’ because 

subpart C includes multiple sections 

that govern imposition of a civil money 

penalty, while 45 CFR 150.305 only 

applies to a determination of which 

entity is liable for a civil money penalty. 

B. Individual Market 

The regulations at 45 CFR Part 148 

implement the individual market 

requirements of Title XXVII of the PHS 

Act. Section 102(b) of GINA added a 

new section 2753 (42 U.S.C. 300gg–53) 

to Title XXVII to prohibit discrimination 

on the basis of genetic information in 

the individual health insurance market. 

Section 2753 of the PHS Act generally 

parallels the group market genetic 

nondiscrimination provisions GINA 

added to the Code, ERISA and the PHS 

Act. Section 2753 and the interim final 

regulations prohibit issuers in the 

individual market from collecting 

genetic information prior to or in 

connection with such enrollment, and at 

any time for underwriting purposes. 

Section 2753 and the interim final 

regulations also prohibit issuers from 

requesting or requiring genetic tests. 

The exceptions and rules of 

construction that apply to the foregoing 

requirements in the group market (for 

example, the rule for incidental 

collections of genetic information and 

the research exception to the rule 

against requiring genetic tests) also 

apply in the individual market. 

Since individual market issuers were 

not subject to the Federal HIPAA 

nondiscrimination requirements 

applicable to issuers in the group 

market, it was necessary for GINA to 

amend the PHS Act in order to have 

similar protections against genetic 

discrimination applicable in both 

markets. Thus, new section 2753 of the 

PHS Act prohibits issuers of individual 

health insurance policies from using 

genetic information as a basis for 

making eligibility or premium 

determinations, or for imposing 

preexisting condition exclusions. 

Issuers in the individual market may 

continue to establish rules for eligibility, 

increase premiums, and impose 

preexisting condition exclusions based 

on the manifestation of a disease or 

disorder in an individual, or in a family 


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member covered under the policy that 

covers the individual. However, they 

cannot use a manifestation of a disease 

or disorder in one individual as genetic 

information about family members 

covered under the same policy or 

another policy in order to further 

increase premiums. 

These interim final regulations add a 

new § 148.180 to subpart C of part 148 

to implement section 2753 of the PHS 

Act. To the extent that the provisions of 

section 2753 parallel the GINA 

amendments to section 2702 of the PHS 

Act which govern the group market, 

§ 148.180 restates the corresponding 

group market provisions (with 

conforming changes and technical 

corrections appropriate to the 

individual market) rather than 

incorporating the group market 

provisions by reference. 

As discussed above, GINA amended 

the Social Security Act to include 

genetic nondiscrimination provisions 

that apply to issuers of Medigap 

policies. The PHS Act regulations at 45 

CFR 148.220 state that Medigap policies 

are excepted benefits. Nevertheless, 

because Medigap policies are subject to 

GINA under the Social Security Act and 

NAIC model regulation, CMS made 

clarifying changes to § 148.220 to 

emphasize the foregoing. 

III. Interim Final Regulations and 

Request for Comments 

Section 9833 of the Code, section 734 

of ERISA, and section 2792 of the PHS 

Act authorize the Secretaries of the 

Treasury, Labor, and HHS to promulgate 

any interim final rules that they 

determine are appropriate to carry out 

the provisions of Chapter 100 of Subtitle 

K of the Code, Part 7 of Subtitle B of 

Title I of ERISA, and Part A of Title 

XXVII of the PHS Act, which include 

the provisions of GINA. 

Under Section 553(b) of the 

Administrative Procedure Act (5 U.S.C. 

551 et seq.) a general notice of proposed 

rulemaking is not required when an 

agency, for good cause, finds that notice 

and public comment thereon are 

impracticable, unnecessary, or contrary 

to the public interest. 

These rules are being adopted on an 

interim final basis because the 

Secretaries have determined that 

without prompt guidance some 

members of the regulated community 

may not know what steps to take to 

comply with the requirements of GINA, 

which may result in an adverse impact 

on participants and beneficiaries with 

regard to their health benefits under 

group health plans and the protections 

provided under GINA. Moreover, 

GINA’s requirements will affect the 

regulated community in the immediate 

future. 

The requirements of sections 101 

through 103 of GINA are effective for all 

group health plans and for health 

insurance issuers offering coverage in 

connection with such plans for plan 

years beginning after May 21, 2009. Plan 

administrators and sponsors, issuers, 

and participants and beneficiaries will 

need guidance on how to comply with 

the new statutory provisions. As noted 

earlier, these interim rules take into 

account comments received by the 

Departments in response to the request 

for information on GINA published in 

the Federal Register on October 10, 

2008 (73 FR 60208). For the foregoing 

reasons, the Departments find that the 

publication of a proposed regulation, for 

the purpose of notice and public 

comment thereon, would be 

impracticable, unnecessary, and 

contrary to the public interest. 

IV. Economic Impact and Paperwork 

Burden 

A. Summary—Department of Labor and 

Department of Health and Human 

Services 

As discussed above, Title I of GINA 

generally prohibits group health plans 

and health insurance issuers in both the 

group and individual markets from 

discriminating based on genetic 

information, requesting or requiring an 

individual to undergo a genetic test, and 

collecting genetic information prior to 

or in connection with enrollment or for 

underwriting purposes. The 

Departments have crafted these interim 

final regulations to secure the 

protections from discrimination 

intended by Congress in as 

economically efficient a manner as 

possible. Although the Departments are 

unable to quantify the regulations’ 

economic benefits, they have quantified 

their costs and have provided a 

qualitative discussion of some of the 

benefits that may stem from this rule. 

One potential benefit associated with 

GINA and these interim final 

regulations is that genetic testing and 

research may expand when 

discrimination based on genetic 

information and the collection of such 

information is prohibited, if these 

protections allay individuals’ fears of 

adverse health coverage-related 

consequences from undergoing genetic 

testing and participating in research 

studies examining genetic information. 

An increase in genetic testing and 

research, in turn, could provide greater 

knowledge regarding the genetic basis of 

disease, which could facilitate the early 

diagnosis and treatment of individuals 

with a genetic predisposition toward 

developing certain diseases and 

disorders and may allow scientists to 

develop new medicines, treatments, and 

therapies that could enhance the health 

and welfare of Americans. 

B. Statement of Need for Regulatory 

Action 

Congress directed the Departments to 

issue regulations implementing the 

GINA provisions not later than 12 

months after the date of enactment. In 

response to this Congressional directive, 

these interim final regulations clarify 

and interpret the GINA 

nondiscrimination provisions under 

section 702 of ERISA, sections 2702 and 

2753 of the PHS Act, and section 9802 

of the Code. These regulations are 

needed to secure and implement GINA’s 

nondiscrimination provisions and 

ensure that the rights provided to 

participants, beneficiaries, and other 

individuals under GINA are fully 

realized. The Departments’ assessment 

of the expected economic effects of 

these interim final regulations is 

discussed in detail below. 

C. Executive Order 12866—Department 

of Labor and Department of Health and 

Human Services 

Under Executive Order 12866 (58 FR 

51735, Oct. 4, 1993), the Departments 

must determine whether a regulatory 

action is ‘‘significant’’ and therefore 

subject to the requirements of the 

Executive Order and review by the 

Office of Management and Budget 

(OMB). Under section 3(f), the order 

defines a ‘‘significant regulatory action’’ 

as an action that is likely to result in a 

rule: (1) Having an annual effect on the 

economy of $100 million or more, or 

adversely and materially affecting a 

sector of the economy, productivity, 

competition, jobs, the environment, 

public health or safety, or State, local or 

Tribal governments or communities 

(also referred to as ‘‘economically 

significant’’); (2) creating serious 

inconsistency or otherwise interfering 

with an action taken or planned by 

another agency; (3) materially altering 

the budgetary impacts of entitlement 

grants, user fees, or loan programs or the 

rights and obligations of recipients 

thereof; or (4) raising novel legal or 

policy issues arising out of legal 

mandates, the President’s priorities, or 

the principles set forth in the Executive 

Order. 

Pursuant to the terms of the Executive 

Order, the Departments have 

determined that this action raises novel 

policy issues arising out of legal 

mandates. Therefore, the interim final 

regulations are ‘‘significant’’ and subject 


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13 Departments’ estimates based on the March 

2007 Current Population Survey. 

14 Departments’ estimates based on the March 

2008 Current Population Survey. 

15Estimates are from 2007 NAIC financial 

statements data and the California Department of 

Managed Healthcare (http://wpso.dmhc.ca.gov/ 

hpsearch/viewall.aspx). 

16When scoring the GINA bill the Congressional 

Budget Office estimated that the bill would increase 

health insurance coverage by about 600 people a 

year with most being in the individual market. 

Congressional Budget Office Cost Estimate, H.R. 493 

Genetic Information Nondiscrimination Act of 

2007, April 12, 2007. 

17Pollitz, Karen, et. al. ‘‘Genetic Discrimination 

in Health Insurance: Current Legal Protections and 

Industry Practices.’’ Inquiry 44:350–368 (Fall 2007). 

to OMB review under Section 3(f)(4) of 

the Executive Order. Accordingly, the 

Departments have undertaken, as 

described below, an assessment of the 

costs and benefits of the regulation. 

Over the 10-year period of 2010 to 2019, 

the present value of the costs, using a 

discount rate of 7 percent, is estimated 

to be $294.8 million in 2009 Dollars, as 

is shown in Table 1. 

All other numbers included in the 

text are not discounted. 

TABLE 1—TOTAL DISCOUNTED COSTS OF RULE

[In millions of 2009 dollars] 

Year Wellness plan 

review 

Individual 

market review 

Medical record 

review 

Research 

disclosure 

Total costs— 

discounted at 

7% 

(B) (C) (D) (E) B + C + D + E 

2010 ..................................................................................... $2.0 $5.3 $38.3 $0 $45.5 

2011 ..................................................................................... ........................ ........................ 35.8 ........................ 35.8 

2012 ..................................................................................... ........................ ........................ 33.4 ........................ 33.4 

2013 ..................................................................................... ........................ ........................ 31.2 ........................ 31.2 

2014 ..................................................................................... ........................ ........................ 29.2 ........................ 29.2 

2015 ..................................................................................... ........................ ........................ 27.3 ........................ 27.3 

2016 ..................................................................................... ........................ ........................ 25.5 ........................ 25.5 

2017 ..................................................................................... ........................ ........................ 23.8 ........................ 23.8 

2018 ..................................................................................... ........................ ........................ 22.3 ........................ 22.3 

2019 ..................................................................................... ........................ ........................ 20.8 ........................ 20.8 

Total with 7% Discounting ............................................ ........................ ........................ ........................ ........................ 294.8 

Total with 3% Discounting ............................................ ........................ ........................ ........................ ........................ 356.8 

Note: The displayed numbers are rounded and therefore may not add up to the totals. They are discounted using a 7 percent discount rate 

unless otherwise noted. 

The Departments performed a 

comprehensive, unified analysis to 

estimate the costs and, to the extent 

feasible, provide a qualitative 

assessment of benefits attributable to the 

statute and regulations for purposes of 

compliance with Executive Order 

12866, the Regulatory Flexibility Act, 

and the Paperwork Reduction Act. The 

Departments’ assessment and 

underlying analysis is set forth below. 

1. Affected Entities and Other 

Assumptions 

The Departments estimate that 137.1 

million participants and beneficiaries 13

are covered by nearly 2.5 million private 

sector group health plans and 31.7 

million individuals are covered by 

individual health insurance policies.14

The Departments also estimate that 

approximately 630 insurers will be are 

affected by GINA, consisting of 

approximately 460 insurers offering 

coverage in connection with insured 

group health plans and approximately 

490 health insurance issuers offering 

policies in the individual health 

insurance market.15

2. Benefits 

One potential benefit associated with 

GINA and these interim final 

regulations is that genetic testing and 

research may increase if the protections 

provided under GINA allay the public’s 

concerns that health plans and insurers 

will use genetic information to 

discriminate based on the collection and 

disclosure of such information. 

Comments received in response to the 

RFI indicate that genetic testing and 

research currently are being 

underutilized. A major reason cited for 

the lack of genetic testing is the public’s 

fear of adverse employment-related or 

health coverage-related consequences 

associated with having genetic testing or 

participating in research studies that 

examine genetic information. Removing 

barriers that impede the growth of 

genetic testing and research has the 

potential to improve health and save 

lives by providing patients and 

physicians with critical knowledge to 

facilitate early intervention often before 

disease symptoms are manifested. It also 

could expand the development of 

scientific research, which could result 

in the development of new medicines, 

therapies, and treatments for diseases 

and disorders. 

Additional economic benefits may 

derive directly from the improved 

clarity provided by the interim final 

regulations, which will reduce 

uncertainty and help group health plan 

sponsors and health insurers comply 

with GINA’s requirements in a cost 

effective manner. Moreover, the 

prohibitions enacted in GINA and these 

interim final regulations should provide 

a benefit to individuals with genetic 

predispositions for diseases by 

decreasing the number of individuals 

that are denied coverage under a group 

health plan or priced out of the 

individual health insurance market.16

Currently, the Departments are unable 

to quantify these benefits, because 

relatively few genetic tests and research 

studies are performed in the private 

sector 17 and a limited number of genetic 

tests are available. As stated above, the 

Departments expect the number of 

genetic tests and research studies to 

increase in the near future. The 

Departments, however, lack sufficient 

information to project the trajectory of 

this increase. 

3. Costs 

a. Health Risk Assessments 

As discussed above, GINA and these 

interim final regulations prohibit group 

health plans and health insurance 

issuers offering coverage in the group 

and individual health insurance markets 

from collecting genetic information in 


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18See e.g., Comments from BlueCross BlueShield 

Association, pg. 3 (http://www.dol.gov/ebsa/pdf/ 

cmt-12190808.pdf) and Society for Human Resource 

Management, pg. 2 (http://www.dol.gov/ebsa/pdf/ 

cmt-12190813.pdf). 

19This estimate is based on the Kaiser Family 

Foundation Survey, Employer Health Benefits 2008 

Annual Survey: Wellness Programs and Employer 

Opinions, section 12, which estimates that 10% of 

plans have health risk assessment and 12% of those 

offer a financial incentive to employees that 

complete HRAs (2.5 million group health plans × 

10% of plans have health risk assessments × 12% 

of those plans that offer financial rewards and 

incentives = 30,000 plans). 

20There are about 30,000 plans with health risk 

assessments and about 460 insurers in the group 

market; this is an average of 65 plans per insurer. 

21EBSA estimates based on the National 

Occupational Employment Survey (May 2007, 

Bureau of Labor Statistics) and the Employment 

Cost Index June 2008, Bureau of Labor Statistics). 

22This comment may be accessed at the following 

URL: http://www.dol.gov/ebsa/regs/cmtgeneticinfoND.html. 

23Pollitz, Karen, et al., ‘‘Genetic Discrimination 

in Health Insurance: Current Legal Protections and 

Industry Practices.’’ Inquiry, 44: 350–368 (Fall 

2007). 

connection with or prior to enrollment 

and for underwriting purposes. 

Comments received in response to the 

RFI indicate that the immediate impact 

of GINA and these interim final 

regulations on group health plans and 

health insurance issuers providing 

group health coverage should be 

minimal. Plans and issuers commented 

that they do not collect or use genetic 

information for underwriting purposes 

because pre-GINA laws and regulations 

prohibit them from discriminating 

against individuals based on any health 

status-related factors, including genetic 

information.18

Currently, many group health plans 

request family medical history 

information to be provided in response 

to questions on HRAs that are 

completed by new employees before 

enrollment in the plan and as part of 

open enrollment for current employees. 

HRAs are used in connection with 

wellness and disease management 

programs to identify individuals at risk 

for certain conditions and provide an 

opportunity for preventive treatment 

service referrals, disease management, 

and other behavioral change initiatives 

that are focused on creating higher 

quality medical outcomes. Some group 

health plans provide rewards and 

incentives to employees who complete 

HRAs, such as premium reductions, 

lower deductibles, and cash bonus 

payments. 

The Departments expect that most of 

the cost of complying with GINA and 

these interim final regulations will be 

concentrated among the approximately 

30,000 group health plans 19 that are 

associated with wellness and disease 

management programs that provide 

rewards and incentives to employees 

that complete HRAs. These plans will 

have to conduct a compliance review to 

ensure that their HRAs and any 

associated policies and procedures 

comply with GINA’s prohibition on 

using genetic information prior to or in 

connection with enrollment or for 

underwriting purposes and to make any 

necessary changes to their HRAs and 

policies and procedures. 

The Departments assume that insured 

plans will rely on the health insurance 

issuer providing coverage to ensure 

compliance and that self-insured plans 

will rely on wellness vendors and other 

service providers to ensure compliance. 

These interim final regulations provide 

several examples illustrating the 

application of the regulations to HRAs, 

which are intended to reduce the 

compliance burden. Moreover, the per 

plan compliance cost is expected to be 

low, because vendors and insurers will 

be able to spread these costs across 

multiple client plans.20

The Departments assume that the 

average burden per plan will be one-half 

hour of a legal professional’s time at an 

hourly labor rate of $116,21 and one-half 

hour of a clerical staff’s time at an 

hourly labor rate of $26 to conduct the 

compliance review and make the 

needed changes to the HRAs. This 

results in a total cost of $2.1 million 

($1.7 for legal services, and $0.4 million 

for clerical services) in the first year. 

The Departments invite public 

comments on this estimate. 

To the extent that GINA and these 

interim final regulations prohibit group 

health plans and issuers from 

incentivizing employees to complete 

HRAs requesting genetic information, 

including family medical history, and 

response rates for HRAs drop as a 

consequence, a cost may be incurred 

that is associated with the forgone 

benefits of identifying disease risks 

early and preventing their onset. The 

Departments do not have adequate data 

to determine whether these forgone 

benefits would materialize, and, if so, 

what their extent may be. However, the 

Departments invite public comments on 

this issue, including evidence-based 

estimates of what the extent of these 

forgone benefits may be, if any, and 

ways in which these public health 

benefits may be realized while 

complying with the statutory 

prohibition on using genetic 

information for underwriting purposes. 

b. GINA’s Impact on the Individual 

Health Insurance Market 

The Department of Health and Human 

Services expects that the individual 

health insurance market will incur 

higher costs of complying with these 

interim final regulations than group 

health plans. The Departments assume 

that health insurance issuers in the 

individual market will have to review 

their applications and underwriting 

policies and procedures to ensure that 

genetic information is not collected or 

used for underwriting purposes. Issuers 

also will need to train underwriters to 

avoid using genetic information in 

underwriting. The Departments estimate 

that the approximately 490 issuers in 

the individual health insurance market 

will spend approximately 100 hours inhouse each conducting a compliance 

review, modifying their applications 

and policies and procedures, and 

drafting training materials and 

providing training sessions for 

underwriters to ensure compliance with 

GINA and these interim final 

regulations at a labor rate of $116. This 

results in a total cost of about $5.6 

million. The Departments invite public 

comments on this estimate. 

One comment received in response to 

the RFI indicated that underwriters in 

the individual health insurance market 

request medical records from medical 

service providers for approximately 20 

percent of applicants.22 It is likely that 

most of these medical records contain 

information relating to family medical 

history. In a survey, 16 of 23 senior 

medical underwriters reported that 

while investigating an applicant’s 

medical history, they had encountered 

genetic information about an applicant 

at least once in the applicant’s history.23

As explained earlier, these interim final 

regulations would require health 

insurance issuers in the individual 

market to explicitly state that genetic 

information—including family medical 

history—should not be provided when 

an issuer requests medical records from 

medical services providers for 

underwriting purposes. In turn, issuers 

may request that medical services 

providers redact any family medical 

history information regarding an 

applicant that is contained in medical 

records requested by an issuer to ensure 

that the provisions of GINA and these 

interim final regulations are not 

violated. However, as explained earlier 

under the discussion of the incidental 

collection exception, if medical services 

providers do not comply with the 

issuers’ requests to redact such 

information, the collection of genetic 

information would count as an 

‘‘incidental collection’’ of genetic 

information on the part of issuers, and 

these interim final regulations would 


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24Comments indicated that at least one issuer is 

engaging in a long-term research study involving 

genetic testing. Others may be planning similar 

research. 

25The regulations at 45 CFR 46.116(c) and (d) 

provide for the waiver or alteration of the 

requirements for obtaining informed consent in 

certain cases. However, given the second condition 

established for this research exception under GINA, 

it is unlikely that a waiver of informed consent 

could be granted under 45 CFR 46.116(c) or (d). 

According to 45 CFR 46.116(c) and (d), one of the 

conditions that must be met in order for a waiver 

to be granted is that the research could not 

practicably be carried out without the waiver. The 

second condition of this research exception under 

GINA states that a plan or issuer may request, but 

not require, that a participant or beneficiary 

undergo genetic testing for research purposes only 

if the plan or issuer makes the request in writing 

and clearly indicates that compliance with the 

request is voluntary. Since it is difficult to envision 

a circumstance where it would be the case that 

research could not be practicably carried out 

without a waiver of informed consent under 45 CFR 

46.116(c) or (d), and yet be able to satisfy the 

second condition of this research exception under 

GINA, we expect that for research studies 

conducted under the research exception under 

GINA, it is unlikely that informed consent could be 

waived under 45 CFR 46.116(c) or (d). 

26The instructions to the Notice will specify the 

appropriate Department to which the Notice should 

be submitted. 

27For example, individuals who obtain results 

from genetic tests indicating the risk of contracting 

a serious medical condition could benefit 

financially by ‘‘choosing the timing of purchases, 

and the type and level of benefits purchased. This 

biased selection would have a direct impact on 

premium rates, ultimately raising the cost of 

insurance to everyone.’’ American Academy of 

Actuaries, ‘‘Genetic Information and Medical 

Expense Insurance,’’ June 2000. 

not be violated so long as the issuers do 

not use the genetic information for 

underwriting purposes. 

The Departments assume that medical 

service providers will be responsible for 

redacting genetic information from 

medical records before submitting the 

records to insurers, and that trained 

medical staff will be used for this 

purpose. The Departments estimate that, 

on average, health insurance issuers will 

request 3 million medical records per 

year, and that medical records staff will 

spend one-half hour per request 

redacting genetic information from 

requested medical records, at a labor 

rate of $26 per hour. This results in a 

total annual cost of nearly $41 million. 

The Departments invite public 

comments on this estimate. 

c. Research Exception 

As discussed above, GINA and these 

interim final regulations provide an 

exception to the limitations on 

requesting or requiring genetic testing, 

which allows a group health plan or 

group health insurance issuer to request, 

but not require, a participant or 

beneficiary to undergo a genetic test 24 if 

all of the following conditions of the 

research exception are satisfied: 

• The request must be made pursuant 

to research that complies with 45 CFR 

Part 46 (or equivalent Federal 

regulations) and any applicable State or 

local law or regulations for the 

protection of human subjects in 

research. To comply with the informed 

consent requirements of 45 CFR 

46.116(a)(8), participants in the research 

must receive a disclosure that 

participation in the research is 

voluntary, refusal to participate cannot 

involve any penalty or loss of benefits 

to which the subject is otherwise 

entitled, and participation may be 

discontinued at any time without 

penalty or loss of benefits to which the 

subject is entitled when the 

participant’s informed consent is sought 

(the participant disclosure).25 These 

interim final regulations provide that 

when participants receive the 

participant disclosure required under 45 

CFR 46.116(a)(8) when their informed 

consent is sought, no additional 

disclosures are required for purposes of 

the GINA research exception. 

• The plan or issuer must make the 

request in writing and must clearly 

indicate to each participant or 

beneficiary (or in the case of a minor 

child, to the legal guardian of such 

beneficiary) to whom the request is 

made that compliance with the request 

is voluntary and noncompliance will 

have no effect on eligibility for benefits 

or premium or contribution amounts. 

• None of the genetic information 

collected or acquired as a result of the 

research may be used for underwriting 

purposes. 

• The plan or issuer must complete a 

copy of the ‘‘Notice of Research 

Exception under the Genetic 

Information Nondiscrimination Act’’ 

(the Notice) and provide it to the 

address specified in its instructions. The 

Notice and instructions are available on 

the Department of Labor’s Web site 

(http://www.dol.gov/ebsa). 

The Departments estimate that up to 

five entities (consisting of group health 

plans and health insurance issuers in 

the group and individual markets) will 

use the genetic research exception and 

assume that the requirements of 45 CFR 

Part 46 will be satisfied. Based on the 

foregoing, the Departments assume that 

all group health plans and group health 

insurance issuers using the exemption 

will not have to send a disclosure to 

participants in the genetic research, 

because they will comply with the 

requirements of 45 CFR Part 

46.116(a)(8). Therefore, the only 

incremental cost imposed by these 

interim final regulations will be for the 

group health plans and group health 

issuers to send the Notice to the 

appropriate Department.26 Because this 

cost is de minimis, it has not been 

included in this Regulatory Impact 

Analysis. 

4. Uncertainty 

a. Adverse Selection 

GINA’s prohibition on the use and 

collection of genetic information could 

increase the potential for adverse 

selection in the individual health 

insurance market. Adverse selection 

arises when individuals seeking 

coverage have information about their 

health risks that issuers do not know.27

Such information asymmetry can 

prevent the insurer from assessing the 

individual’s risk accurately enough to 

determine the appropriate premium to 

charge. On average, if issuers do not 

accurately assess the risks they assume, 

they will pay more in claims than they 

receive in premiums. To eliminate this 

shortfall, issuers may be forced to raise 

premiums for all insureds. If issuers 

raise premiums for all insureds, those 

with a perceived low risk of needing 

medical care might drop their coverage. 

This outcome in serious cases may lead 

to a continued cycle of across-the-board 

premium increases. 

The Departments are not able to 

measure the extent to which GINA 

might lead to adverse selection and 

thereby raise premiums in the 

individual health insurance market, or 

whether GINA protections of genetic 

information will increase the total 

number of persons insured under 

individual health insurance policies 

relative to the number that might leave 

the market due to increased premiums. 

Currently, with few tests being 

performed, the Departments expect the 

impact to be minimal; however, as the 

number of tests increases, the effects of 

adverse selection on the individual 

health insurance market also could 

increase and the impact of adverse 

selection could grow. 

b. Impact of GINA on Health Care 

Expenditures 

Another uncertainty associated with 

GINA and these interim final 

regulations is whether total health care 

expenditures will increase or decrease. 

Whether expenditures will increase or 

decrease is dependent on a number of 

factors such as the following: The cost 

and predictive power of tests, how 

widely the tests are performed among 

the population, whether detected gene 

abnormalities are based on a single gene 


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28American Academy of Actuaries, Genetic 

Information and Medical Expense Insurance. June 

2000. 

29For purposes of this certification, the 

Departments continue to consider a small entity to 

be an employee benefit plan with fewer than 100 

participants. The basis of this definition is found in 

section 104(a)(2) of ERISA, which permits the 

Secretary of Labor to prescribe simplified annual 

reports for pension plans which cover fewer than 

100 participants. The Departments consulted with 

the Small Business Administration in making this 

determination as required by 5 U.S.C. 601(3) and 13 

CFR 121.903(c). 

30Comments indicated that at least one issuer is 

engaging in a long-term research study involving 

genetic testing. Others may be planning similar 

research. 

or also involve environmental and other 

confounding factors which lower the 

predictive value of the test and 

treatment, and whether treatments for 

detected gene abnormalities are less 

costly than treatments for the 

manifested disease. 

Genetic testing typically is not 

covered under individual health 

insurance policies; group health plans 

are far more likely to cover both the 

tests and associated treatments.28 As the 

number of genetic tests performed 

increases, the Departments expect group 

health care premiums will rise to offset 

the increased costs to insurers, and any 

increase or decrease in overall 

expenditures is expected to result in 

increased or decreased premiums for the 

group market. 

D. Regulatory Flexibility Act— 

Department of Labor and Department of 

Health and Human Services 

The Regulatory Flexibility Act (5 

U.S.C. 601 et seq.) (RFA) imposes 

certain requirements with respect to 

Federal rules that are subject to the 

notice and comment requirements of 

section 553(b) of the Administrative 

Procedure Act (5 U.S.C. 551 et seq.) and 

that are likely to have a significant 

economic impact on a substantial 

number of small entities. Because these 

rules are being issued as interim final 

regulations, the RFA does not apply and 

the Departments are not required to 

either certify that the rule would not 

have a significant economic impact on 

a substantial number of small entities or 

conduct a regulatory flexibility analysis. 

Nevertheless, the Departments 

carefully considered the likely impact of 

the rule on small entities in connection 

with their assessment under Executive 

Order 12866. The Departments expect 

the rules to reduce the compliance 

burden imposed on plans and insurers 

by clarifying definitions and terms 

contained in the statute and providing 

examples of acceptable methods to 

comply with specific provisions. Based 

on the foregoing, and as further 

discussed below, the Departments 

hereby certify that the rule will not have 

a significant economic impact on a 

substantial number of small entities.29

The Departments expect most of the 

cost of complying with GINA and the 

rules to be concentrated among group 

health plans associated with wellness 

and disease management programs 

providing rewards and incentives to 

employees who complete Health Risk 

Assessments (HRAs). The Departments 

estimate that approximately 15,000 (out 

of 2.4 million) small plans (or 0.00625 

of all group health plans) will need to 

review their HRAs to ensure that genetic 

information is not used prior to or in 

connection with enrollment or for 

underwriting purposes and to make any 

necessary changes to forms and policies 

and procedures. This process is 

estimated to require one-half hour of a 

legal professional’s time at an hourly 

labor rate of $116 and one-half hour of 

a clerical staff member’s time at an 

hourly labor rate of $26 resulting in an 

average cost to the plans of $71 ($58 + 

$13). 

Health insurers in both the group and 

individual health insurance markets 

will have to ensure compliance with the 

GINA and the rules. For this purpose, 

using the Small Business 

Administration’s definition of a small 

business as a business with less than $7 

million in revenues, premiums earned 

as a measure of revenue, and data 

obtained from the National Association 

of Insurance Commissioners, the 

Departments estimate that 

approximately 75 out of 630 insurers 

had revenues of less that $7 million, 

and, of these, about 25 had revenues of 

less than $1 million. 

The Departments estimate that each 

insurer on average would spend 100 

hours of professional time at an hourly 

labor rate of $116 to revise policies and 

procedures and train underwriters about 

GINA. This would result in an estimated 

one time average cost of $11,600 per 

insurer. For the approximately 25 

insurers with revenues of less than $1 

million, this burden could be more than 

one percent of premiums. However, the 

estimated costs are an average cost for 

plans of all sizes, and the Departments 

expect small insurers to have lower 

implementation costs, because they 

have fewer underwriters and other staff 

members to train. 

The Departments invite public 

comments on this certification. 

E. Special Analyses—Department of the 

Treasury 

Notwithstanding the determinations 

of the Department of Labor and 

Department of Health and Human 

Services, for purposes of the Department 

of the Treasury, it has been determined 

that this Treasury decision is not a 

significant regulatory action for 

purposes of Executive Order 12866. 

Therefore, a regulatory assessment is not 

required. It has also been determined 

that section 553(b) of the Administrative 

Procedure Act (5 U.S.C. chapter 5) does 

not apply to these regulations. For the 

applicability of the RFA, refer to the 

Special Analyses section in the 

preamble to the cross-referencing notice 

of proposed rulemaking published 

elsewhere in this issue of the Federal 

Register. Pursuant to section 7805(f) of 

the Code, these interim final regulations 

will be submitted to the Chief Counsel 

for Advocacy of the Small Business 

Administration for comment on their 

impact on small businesses. 

F. Paperwork Reduction Act 

1. Department of Labor and Department 

of the Treasury 

As part of their continuing efforts to 

reduce paperwork and respondent 

burden, the Departments conduct a 

preclearance consultation program to 

provide the general public and Federal 

agencies with an opportunity to 

comment on proposed and continuing 

collections of information in accordance 

with the Paperwork Reduction Act of 

1995 (PRA) (44 U.S.C. 3506(c)(2)(A)). 

This helps to ensure that requested data 

can be provided in the desired format, 

reporting burden (time and financial 

resources) is minimized, collection 

instruments are clearly understood, and 

the impact of collection requirements on 

respondents can be properly assessed. 

As discussed above, GINA and these 

interim final regulations provide an 

exception to the limitations on 

requesting or requiring genetic testing 

that allow a group health plan or group 

health insurance issuer to request, but 

not require, a participant or beneficiary 

to undergo a genetic test 30 if all of the 

following conditions of the research 

exception set forth in 29 CFR 2590.702– 

1(c)(5) are satisfied: 

• The request must be made pursuant 

to research that complies with 45 CFR 

Part 46 (or equivalent Federal 

regulations) and any applicable State or 

local law or regulations for the 

protection of human subjects in 

research. To comply with the informed 

consent requirements of 45 CFR 

46.116(a)(8), a participant must receive 

a disclosure that participation in the 

research is voluntary, refusal to 

participate cannot involve any penalty 


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31While 45 CFR 46.116(c) and (d) permit a waiver 

of the disclosure otherwise required under 45 CFR 

46.116(a)(8), it is unlikely that such a waiver could 

be granted for research studies conducted under the 

research exception under GINA. See footnote 25. 32 5 CFR 1320.1 through 1320.18. 

or loss of benefits to which the subject 

is otherwise entitled, and the subject 

may discontinue participation at any 

time without penalty or loss of benefits 

to which the subject is entitled (the 

participant disclosure).31 These interim 

final regulations provide that when the 

participant disclosure is received by 

participants when their informed 

consent is sought, no additional 

disclosures are required for purposes of 

the GINA research exception. 

• The plan or issuer must make the 

request in writing and must clearly 

indicate to each participant or 

beneficiary (or in the case of a minor 

child, to the legal guardian of such 

beneficiary) to whom the request is 

made that compliance with the request 

is voluntary and noncompliance will 

have no effect on eligibility for benefits 

or premium or contribution amounts. 

• None of the genetic information 

collected or acquired as a result of the 

research may be used for underwriting 

purposes. 

• The plan or issuer must complete a 

copy of the ‘‘Notice of Research 

Exception under the Genetic 

Information Nondiscrimination Act’’ 

(the Notice) and provide it to the 

address specified in its instructions. The 

Notice and instructions are available on 

the Department of Labor’s Web site 

(http://www.dol.gov/ebsa). 

Two information collection requests 

(ICRs) are associated with the genetic 

research exception—the participant 

disclosure and the Notice. The 

Departments estimate that up to three 

entities will take advantage of the 

research exception, and that all of the 

entities will comply with the 

requirements of 45 CFR Part 46, 

including providing the participant 

disclosure. 

The Departments are not soliciting 

comments concerning an ICR pertaining 

to the participant disclosure, because 

these interim final regulations provide 

that group health plans and group 

health insurance issuers meeting the 

requirements of 45 CFR Part 46 are not 

required to provide additional 

disclosures, and the Departments have 

assumed that all entities using the 

research exemption will meet these 

requirements. The costs and burdens 

associated with complying with the 

participant disclosure requirement 

already are accounted for in the 

information collection request for the 

informed consent requirements 

contained in 45 CFR Part 46 approved 

under the Department of Health and 

Human Services’ OMB Control Number 

(0990–0260). 

Currently, the Departments are 

soliciting comments concerning the 

Notice. The Departments have 

submitted a copy of these interim final 

regulations to OMB in accordance with 

44 U.S.C. 3507(d) for review of its 

information collections. The 

Departments and OMB are particularly 

interested in comments that: 

• Evaluate whether the collection of 

information is necessary for the proper 

performance of the functions of the 

agency, including whether the 

information will have practical utility; 

• Evaluate the accuracy of the 

agency’s estimate of the burden of the 

collection of information, including the 

validity of the methodology and 

assumptions used; 

• Enhance the quality, utility, and 

clarity of the information to be 

collected; and 

• Minimize the burden of the 

collection of information on those who 

are to respond, including through the 

use of appropriate automated, 

electronic, mechanical, or other 

technological collection techniques or 

other forms of information technology, 

for example, by permitting electronic 

submission of responses. 

Comments should be sent to the 

Office of Information and Regulatory 

Affairs, Attention: Desk Officer for the 

Employee Benefits Security 

Administration either by fax to (202) 

395–7285 or by e-mail to 

oira_submission@omb.eop.gov. 

Although comments may be submitted 

through December 7, 2009, OMB 

requests that comments be received 

within 30 days of publication of these 

interim final regulations to ensure their 

consideration. A copy of the ICR may be 

obtained by contacting the PRA 

addressee: G. Christopher Cosby, Office 

of Policy and Research, U.S. Department 

of Labor, Employee Benefits Security 

Administration, 200 Constitution 

Avenue, NW., Room N–5718, 

Washington, DC 20210. Telephone: 

(202) 693–8410; Fax: (202) 219–4745. 

These are not toll-free numbers. E-mail: 

ebsa.opr@dol.gov. ICRs submitted to 

OMB also are available at reginfo.gov 

(http://www.reginfo.gov/public/do/ 

PRAMain). 

The Departments estimate that 

completing and mailing the Notice will 

require 15 minutes of clerical time at an 

hourly rate of $26 per hour. Therefore, 

the total hour burden associated with 

completing the Notice is estimated to be 

0.75 hours of clerical time. The cost 

burden consists of material and mailing 

cost to mail the two-page Notice and is 

estimated to total $20. Although the 

Departments share the burden for this 

ICR, the Departments have agreed to 

allocate the hour and cost burden 

associated with the rule entirely to the 

Department of Labor, because it is so 

minimal. The Departments note that 

persons are not required to respond to, 

and generally are not subject to any 

penalty for failing to comply with, an 

ICR unless the ICR has a valid OMB 

control number.32

These paperwork burden estimates 

are summarized as follows: 

Type of Review: New collection. 

Agencies: Employee Benefits Security 

Administration, Department of Labor; 

Internal Revenue Service, Department of 

the Treasury. 

Title: Notice of Research Exception 

under the Genetic Information 

Nondiscrimination Act. 

OMB Number: 1210–NEW. 

Affected Public: Business or other forprofit; not-for-profit institutions. 

Respondents: 3. 

Responses: 3. 

Frequency of Response: Occasionally. 

Estimated Total Annual Burden 

Hours: 0.75 hours. 

Estimated Total Annual Burden Cost: 

$20. 

2. Department of Health and Human 

Services 

Under the Paperwork Reduction Act 

of 1995, we are required to provide 60- 

day notice in the Federal Register and 

solicit public comment before a 

collection of information requirement is 

submitted to the Office of Management 

and Budget (OMB) for review and 

approval. In order to fairly evaluate 

whether an information collection 

should be approved by OMB, section 

3506(c)(2)(A) of the Paperwork 

Reduction Act of 1995 requires that we 

solicit comment on the following issues: 

• The need for the information 

collection and its usefulness in carrying 

out the proper functions of our agency. 

• The accuracy of our estimate of the 

information collection burden. 

• The quality, utility, and clarity of 

the information to be collected. 

• Recommendations to minimize the 

information collection burden on the 

affected public, including automated 

collection techniques. 

We are soliciting public comment on 

each of these issues for the following 

sections of this document that contain 

information collection requirements 

(ICRs): 


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33While 45 CFR 46.116(c) and (d) permit a waiver 

of the disclosure otherwise required under 45 CFR 

46.116(a)(8), it is unlikely that such a waiver could 

be granted for research studies conducted under the 

research exception under GINA. See footnote 25. 

34While 45 CFR 46.116(c) and (d) permit a waiver 

of the disclosure otherwise required under 45 CFR 

46.116(a)(8), it is unlikely that such a waiver could 

be granted for research studies conducted under the 

research exception under GINA. See footnote 25. 

a. ICRs Regarding Additional 

Requirements Prohibiting 

Discrimination Based on Genetic 

Information (§ 146.122) 

As stated in the interim final 

regulations at 45 CFR 146.122(c), there 

are limitations on requesting or 

requiring genetic testing. The interim 

final regulations at 45 CFR 146.122(c)(1) 

state that a group health plan, and a 

health insurance issuer offering health 

insurance coverage in connection with a 

group health plan, must not request or 

require an individual or a family 

member of the individual to undergo a 

genetic test. Section 146.122(c)(5) 

explains the research exception with 

respect to the limitations on requesting 

or requiring genetic testing as defined in 

45 CFR 146.122(c)(1). Specifically, 45 

CFR 146.122(c)(5) states that a plan or 

issuer may request, but not require, that 

a participant or beneficiary undergo a 

genetic test if all of the following 

conditions are met: 

• The request must be made pursuant 

to research that complies with 45 CFR 

Part 46 (or equivalent Federal 

regulations) and any applicable State or 

local law or regulations for the 

protection of human subjects in 

research. To comply with the informed 

consent requirements of 45 CFR 

46.116(a)(8), a participant must receive 

a disclosure that participation in the 

research is voluntary, refusal to 

participate cannot involve any penalty 

or loss of benefits to which the subject 

is otherwise entitled, and the subject 

may discontinue participation at any 

time without penalty or loss of benefits 

to which the subject is entitled (the 

participant disclosure).33 These interim 

final regulations provide that when the 

participant disclosure is received by 

participants when their informed 

consent is sought, no additional 

disclosures are required for purposes of 

the GINA research exception. 

• The plan or issuer must make the 

request in writing and must clearly 

indicate to each participant or 

beneficiary (or in the case of a minor 

child, to the legal guardian of such 

beneficiary) to whom the request is 

made that compliance with the request 

is voluntary and noncompliance will 

have no effect on eligibility for benefits 

or premium or contribution amounts. 

• None of the genetic information 

collected or acquired as a result of the 

research may be used for underwriting 

purposes. 

• The plan or issuer must complete a 

copy of the ‘‘Notice of Research 

Exception under the Genetic 

Information Nondiscrimination Act’’ 

(the Notice) and provide it to the 

address specified in its instructions. The 

Notice and instructions are available on 

the Department of Labor’s Web site 

(http://www.dol.gov/ebsa). 

There are two information collection 

requirements associated with obtaining 

a GINA research exception. The first is 

the informed consent requirement as 

described above. To comply with the 

informed consent requirements of 45 

CFR 46.116(a)(8), a participant must 

receive a disclosure that participation in 

the research is voluntary, refusal to 

participate cannot involve any penalty 

or loss of benefits to which the subject 

is otherwise entitled, and the subject 

may discontinue participation at any 

time without penalty or loss of benefits 

to which the subject is entitled (the 

participant disclosure).34 These interim 

final regulations provide that when the 

participant disclosure is received by 

participants when their informed 

consent is sought, no additional 

disclosures are required for purposes of 

the GINA research exception. 

The burden associated with this 

requirement is the time and effort 

necessary to develop, draft, and 

disseminate the information consent 

notice to patients. While this 

requirement is subject to the PRA, the 

associated burden is already approved 

under OMB control number 0990–0260. 

We are not soliciting comments on this 

requirement at this time. 

The second information collection 

requirement associated with obtaining a 

GINA research exception is the Notice 

of Research Exception under the Genetic 

Information Nondiscrimination Act (the 

Notice). The burden associated with this 

requirement is the time and effort 

necessary for a plan or issuer to 

complete a copy of the Notice and 

submit it to CMS. CMS also estimates 

that completing and mailing the Notice 

will require 15 minutes of clerical time 

at an hourly rate of $26 per hour. 

Therefore, the total hour burden 

associated with completing the Notice is 

estimated to be 0.5 hours of clerical 

time. The cost burden consists of 

material and mailing cost to mail the 

two-page Notice and is estimated to 

total $13. 

b. ICRs Regarding Prohibition of 

Discrimination Based on Genetic 

Information (§ 148.180) 

The information collection 

requirements affecting the individual 

health insurance market as stated in 45 

CFR 148.180 mirror the information 

collection requirements affecting the 

group health insurance market as stated 

in 45 CFR 146.122. The burden is 

discussed in detail in section IV.F.2.A. 

of this preamble. As stated in section 

IV.F.2.A., we expect no more than a 

combined total of 2 entities between the 

group health insurance market and the 

individual health insurance market to 

be subject to the information collection 

requirements contained in this interim 

final rule. 

ESTIMATED ANNUAL REPORTING AND RECORDKEEPING BURDEN

OMB control No. Regulation section(s) Respondents Responses Burden per response (hours) 

Total annual 

burden (hours) 

0938–New ......................................... 45 CFR 146.122 ............................... 2 2 .25 .50 

45 CFR 148.180 ............................... ........................ ........................ ........................ ........................

We have submitted a copy of this 

interim final rule to OMB for its review 

and approval of the aforementioned 

information collection requirements. 

These requirements are not effective 

until approved by OMB. Although 

comments may be submitted through 

December 7, 2009, OMB requests that 

comments be received within 30 days of 

publication of these interim final 

regulations to ensure their 

consideration. 

If you comment on these information 

collection and recordkeeping 

requirements, please do either of the 

following: 

1. Submit your comments 

electronically as specified in the 


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Federal Register / Vol. 74, No. 193 / Wednesday, October 7, 2009 / Rules and Regulations 51677 

ADDRESSES section of this proposed rule; 

or 

2. Submit your comments to the 

Office of Information and Regulatory 

Affairs, Office of Management and 

Budget, 

Attention: CMS Desk Officer, CMS– 

4137–IFC; 

Fax: (202) 395–7285; or 

E-mail: 

OIRA_submission@omb.eop.gov. 

Please reference ‘‘ICRs Regarding 

Prohibition of Discrimination Based on 

Genetic Information (§ 148.180)’’ when 

submitting your comments. 

G. Congressional Review Act 

These interim final regulations are 

subject to the Congressional Review Act 

provisions of the Small Business 

Regulatory Enforcement Fairness Act of 

1996 (5 U.S.C. 801 et seq.) and have 

been transmitted to Congress and the 

Comptroller General for review. 

H. Unfunded Mandates Reform Act 

For purposes of the Unfunded 

Mandates Reform Act of 1995 (Pub. L. 

104–4), as well as Executive Order 

12875, these interim final regulations do 

not include any Federal mandate that 

may result in expenditures by State, 

local, or Tribal governments, nor do 

they include mandates which may 

impose an annual burden of $100 

million or more (as adjusted for 

inflation) on the private sector. 

I. Federalism Statement—Department of 

Labor and Department of Health and 

Human Services 

Executive Order 13132 outlines 

fundamental principles of federalism, 

and requires the adherence to specific 

criteria by Federal agencies in the 

process of their formulation and 

implementation of policies that have 

‘‘substantial direct effects’’ on the 

States, the relationship between the 

national government and States, or on 

the distribution of power and 

responsibilities among the various 

levels of government. Federal agencies 

promulgating regulations that have 

these federalism implications must 

consult with State and local officials, 

and describe the extent of their 

consultation and the nature of the 

concerns of State and local officials in 

the preamble to the regulation. 

In the Departments’ view, these 

interim final regulations have 

federalism implications, because they 

have direct effects on the States, the 

relationship between the national 

government and States, or on the 

distribution of power and 

responsibilities among various levels of 

government. However, in the 

Departments’ view, the federalism 

implications of these regulations are 

substantially mitigated because, with 

respect to health insurance issuers, the 

Departments expect that the majority of 

States will enact laws or take other 

appropriate action resulting in their 

meeting or exceeding the Federal GINA 

standards prohibiting discrimination 

based on genetic information. 

In general, through section 514, 

ERISA supersedes State laws to the 

extent that they relate to any covered 

employee benefit plan, and preserves 

State laws that regulate insurance, 

banking, or securities. While ERISA 

prohibits States from regulating a plan 

as an insurance or investment company 

or bank, HIPAA added a new 

preemption provision to ERISA (as well 

as to the PHS Act) narrowly preempting 

State requirements for group health 

insurance coverage. This amendment 

applies to the GINA nondiscrimination 

provisions. With respect to these 

provisions, States may continue to 

apply State law requirements except to 

the extent that such requirements 

prevent the application of the 

portability, access, and renewability 

requirements of HIPAA, which include 

GINA’s nondiscrimination requirements 

that are the subject of this rulemaking. 

State insurance laws that are more 

stringent than the Federal requirements 

are unlikely to ‘‘prevent the application 

of’’ GINA, and be preempted. 

Accordingly, States have significant 

latitude to impose requirements on 

health insurance issuers that are more 

restrictive than the Federal law. 

GINA provides the Secretary of Labor 

with the express authority to impose a 

penalty against any health insurance 

issuer offering health insurance to a 

group health plan covered by ERISA for 

any failure by the issuer to meet the 

GINA requirements. The States may 

enforce the provisions of GINA as they 

pertain to issuers, but the Secretary of 

HHS is required to enforce any 

provisions that a State fails to 

substantially enforce. This relates to 

HHS’ responsibility to enforce the 

HIPAA nondiscrimination provisions. 

In exercising its responsibility, HHS 

works cooperatively with the State for 

the purpose of addressing the State’s 

concerns and avoiding conflicts with 

the exercise of State authority. HHS has 

developed procedures to implement its 

enforcement responsibilities, and to 

afford the States the maximum 

opportunity to enforce HIPAA’s 

requirements in the first instance. HHS’ 

procedures address the handling of 

reports that States may not be enforcing 

HIPAA’s requirements, and the 

mechanism for allocating enforcement 

responsibility between the States and 

HHS. In compliance with the 

requirement of Executive Order 13132 

that agencies examine closely any 

policies that may have federalism 

implications or limit the policy making 

discretion of the States, the Department 

of Labor and HHS have engaged in 

numerous efforts to consult with and 

work cooperatively with affected State 

and local officials. It is expected that the 

Departments will act in a similar 

fashion in enforcing the GINA 

requirements. 

In addition, the Departments 

specifically consulted with the National 

Association of Insurance Commissioners 

(NAIC) in developing these interim final 

regulations. Through the NAIC, the 

Departments sought and received the 

input of State insurance departments 

regarding certain insurance rating 

practices. The Departments have also 

cooperated with the States in several 

ongoing outreach initiatives, through 

which information on GINA is shared 

among Federal regulators, State 

regulators, and the regulated 

community. 

Throughout the process of developing 

these interim final regulations, to the 

extent feasible within the specific 

preemption provisions of HIPAA as it 

applies to GINA, the Departments have 

attempted to balance the States’ 

interests in regulating health insurance 

issuers, and Congress’s intent to provide 

uniform minimum protections to 

consumers in every State. By doing so, 

it is the Departments’ view that they 

have complied with the requirements of 

Executive Order 13132. 

Pursuant to the requirements set forth 

in section 8(a) of Executive Order 

13132, and by the signatures affixed to 

these regulations, the Departments 

certify that the Employee Benefits 

Security Administration and the Centers 

for Medicare & Medicaid Services have 

complied with the requirements of 

Executive Order 13132 for the attached 

interim final regulations in a meaningful 

and timely manner. 

V. Statutory Authority 

The Department of the Treasury 

temporary and final regulations are 

adopted pursuant to the authority 

contained in sections 7805 and 9833 of 

the Code. 

The Department of Labor interim final 

regulations are adopted pursuant to the 

authority contained in 29 U.S.C. 1027, 

1059, 1135, 1161–1168, 1169, 1181– 

1183, 1181 note, 1185, 1185a, 1185b, 

1191, 1191a, 1191b, and 1191c; 

sec.101(g), Public Law 104–191, 110 

Stat. 1936; sec. 401(b), Public Law 105– 

200, 112 Stat. 645 (42 U.S.C. 651 note); 


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sec. 101(f), Public Law 110–233, 122 

Stat. 881; Secretary of Labor’s Order 

1–2003, 68 FR 5374 (Feb. 3, 2003). 

The Department of Health and Human 

Services interim final regulations are 

adopted pursuant to the authority 

contained in sections 2701 through 

2763, 2791, and 2792 of the PHS Act (42 

U.S.C. 300gg through 300gg–63, 300gg– 

91, and 300gg–92), as added by Public 

Law 104–191, and amended by Public 

Law 104–204, Public Law 105–277, and 

Public Law 110–233. 

List of Subjects 

26 CFR Part 54 

Excise taxes, Health care, Health 

insurance, Pensions, Reporting and 

recordkeeping requirements. 

29 CFR Part 2590 

Continuation coverage, Disclosure, 

Employee benefit plans, Group health 

plans, Health care, Health insurance, 

Medical child support, Reporting and 

recordkeeping requirements. 

45 CFR Parts 144, 146, and 148 

Health care, Health insurance, 

Reporting and recordkeeping 

requirements, and State regulation of 

health insurance. 

Amendments to the Regulations 

Internal Revenue Service 

26 CFR Chapter 1 

■ Accordingly, 26 CFR Part 54 is 

amended as follows: 

PART 54—PENSION EXCISE TAXES 

■ Paragraph 1. The authority citation 

for part 54 is amended by adding an 

entry for § 54.9802–3T in numerical 

order to read in part as follows: 

Authority: 26 U.S.C. 7805. * * * 

Section 54.9802–3T also issued under 

26 U.S.C. 9833. * * * 

■ Par. 2. Section 54.9801–1 is amended 

by revising paragraph (a) and adding 

paragraph (b)(6) to read as follows: 

§ 54.9801–1 Basis and scope. 

(a) Statutory basis. This section and 

sections 54.9801–2 through 54.9801–6, 

54.9802–1, 54.9802–2, 54.9802–3T, 

54.9811–1, 54.9812–1T, 54.9831–1, and 

54.9833–1 (portability sections) 

implement Chapter 100 of Subtitle K of 

the Internal Revenue Code of 1986. 

(b) * * * 

(6) Additional requirements 

prohibiting discrimination based on 

genetic information. 

* * * * * 

■ Par 3. Section 54.9801–2 is amended 

by revising the introductory text and 

revising the definition of Genetic 

information to read as follows: 

§ 54.9801–2 Definitions. 

Unless otherwise provided, the 

definitions in this section govern in 

applying the provisions of § 54.9801–1, 

this section, §§ 54.9801–3 through 

54.9801–6, 54.9802–1, 54.9802–2, 

54.9802–3T, 54.9811–1, 54.9812–1T, 

54.9831–1, and 54.9833–1. 

* * * * * 

Genetic information has the meaning 

given the term in § 54.9802–3T(a)(3). 

* * * * * 

■ Par 4. Section 54.9802–1 is amended 

by revising paragraphs (a)(1)(vi), 

(c)(2)(i), the introductory text of 

paragraph (c)(2)(iii), and paragraph 

(c)(2)(iii) Example 1 to read as follows: 

§ 54.9802–1 Prohibiting discrimination 

against participants and beneficiaries 

based on a health factor. 

(a) * * * (1) * * * 

(vi) Genetic information, as defined in 

§ 54.9802–3T. 

* * * * * 

(c) * * * 

(2) Rules relating to premium rates— 

(i) Group rating based on health factors 

not restricted under this section. 

Nothing in this section restricts the 

aggregate amount that an employer may 

be charged for coverage under a group 

health plan. But see § 54.9802–3T(b), 

which prohibits adjustments in group 

premium or contribution rates based on 

genetic information. 

* * * * * 

(iii) Examples. The rules of this 

paragraph (c)(2) are illustrated by the 

following examples: 

Example 1. (i) Facts. An employer sponsors 

a group health plan and purchases coverage 

from a health insurance issuer. In order to 

determine the premium rate for the 

upcoming plan year, the issuer reviews the 

claims experience of individuals covered 

under the plan. The issuer finds that 

Individual F had significantly higher claims 

experience than similarly situated 

individuals in the plan. The issuer quotes the 

plan a higher per-participant rate because of 

F’s claims experience. 

(ii) Conclusion. See Example 1 in 29 CFR 

2590.702(c)(2) and 45 CFR 146.121(c)(2) for 

a conclusion that the issuer does not violate 

the provisions of 29 CFR 2590.702(c)(2) and 

45 CFR 146.121(c)(2) similar to the 

provisions of this paragraph (c)(2) because 

the issuer blends the rate so that the 

employer is not quoted a higher rate for F 

than for a similarly situated individual based 

on F’s claims experience. (However, those 

examples conclude that if the issuer used 

genetic information in computing the group 

rate, it would violate 29 CFR 2590.702–1(b) 

or 45 CFR 146.122(b).) 

* * * * * 

■ Par. 5. Section 54.9831–1 is amended 

by revising paragraph (b) to read as 

follows: 

§ 54.9831–1 Special rules relating to group 

health plans. 

* * * * * 

(b) General exception for certain small 

group health plans. (1) Subject to 

paragraph (b)(2) of this section, the 

requirements of §§ 54.9801–1 through 

54.9801–6, 54.9802–1, 54.9802–2, 

54.9811–1, 54.9812–1T, and 54.9833–1 

do not apply to any group health plan 

for any plan year if, on the first day of 

the plan year, the plan has fewer than 

two participants who are current 

employees. 

(2) The exception of paragraph (b)(1) 

of this section does not apply with 

respect to the following requirements: 

(i) Section 54.9801–3(b)(6). 

(ii) Section 54.9802–1(b), as such 

paragraph applies with respect to 

genetic information as a health factor. 

(iii) Section 54.9802–1(c), as such 

paragraph applies with respect to 

genetic information as a health factor. 

(iv) Section 54.9802–1(e), as such 

paragraph applies with respect to 

genetic information as a health factor. 

(v) Section 54.9802–3T(b). 

(vi) Section 54.9802–3T(c). 

(vii) Section 54.9802–3T(d). 

(viii) Section 54.9802–3T(e). 

* * * * * 

■ Par. 6. Section 54.9802–3T is added to 

read as follows: 

§ 54.9802–3T Additional requirements 

prohibiting discrimination based on genetic 

information (temporary). 

(a) Definitions. Unless otherwise 

provided, the definitions in this 

paragraph (a) govern in applying the 

provisions of this section. 

(1) Collect means, with respect to 

information, to request, require, or 

purchase such information. 

(2) Family member means, with 

respect to an individual — 

(i) A dependent (as defined for 

purposes of § 54.9801–2) of the 

individual; or 

(ii) Any other person who is a firstdegree, second-degree, third-degree, or 

fourth-degree relative of the individual 

or of a dependent of the individual. 

Relatives by affinity (such as by 

marriage or adoption) are treated the 

same as relatives by consanguinity (that 

is, relatives who share a common 

biological ancestor). In determining the 

degree of the relationship, relatives by 

less than full consanguinity (such as 

half-siblings, who share only one 

parent) are treated the same as relatives 

by full consanguinity (such as siblings 

who share both parents). 


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(A) First-degree relatives include 

parents, spouses, siblings, and children. 

(B) Second-degree relatives include 

grandparents, grandchildren, aunts, 

uncles, nephews, and nieces. 

(C) Third-degree relatives include 

great-grandparents, great-grandchildren, 

great aunts, great uncles, and first 

cousins. 

(D) Fourth-degree relatives include 

great-great grandparents, great-great 

grandchildren, and children of first 

cousins. 

(3) Genetic information means— 

(i) Subject to paragraphs (a)(3)(ii) and 

(a)(3)(iii) of this section, with respect to 

an individual, information about— 

(A) The individual’s genetic tests (as 

defined in paragraph (a)(5) of this 

section); 

(B) The genetic tests of family 

members of the individual; 

(C) The manifestation (as defined in 

paragraph (a)(6) of this section) of a 

disease or disorder in family members 

of the individual; or 

(D) Any request for, or receipt of, 

genetic services (as defined in paragraph 

(a)(4) of this section), or participation in 

clinical research which includes genetic 

services, by the individual or any family 

member of the individual. 

(ii) The term genetic information does 

not include information about the sex or 

age of any individual. 

(iii) The term genetic information 

includes— 

(A) With respect to a pregnant woman 

(or a family member of the pregnant 

woman), genetic information of any 

fetus carried by the pregnant woman; 

and 

(B) With respect to an individual (or 

a family member of the individual) who 

is utilizing an assisted reproductive 

technology, genetic information of any 

embryo legally held by the individual or 

family member. 

(4) Genetic services means— 

(i) A genetic test, as defined in 

paragraph (a)(5) of this section; 

(ii) Genetic counseling (including 

obtaining, interpreting, or assessing 

genetic information); or 

(iii) Genetic education. 

(5)(i) Genetic test means an analysis of 

human DNA, RNA, chromosomes, 

proteins, or metabolites, if the analysis 

detects genotypes, mutations, or 

chromosomal changes. However, a 

genetic test does not include an analysis 

of proteins or metabolites that is directly 

related to a manifested disease, 

disorder, or pathological condition. 

Accordingly, a test to determine 

whether an individual has a BRCA1 or 

BRCA2 variant is a genetic test. 

Similarly, a test to determine whether 

an individual has a genetic variant 

associated with hereditary nonpolyposis 

colorectal cancer is a genetic test. 

However, an HIV test, complete blood 

count, cholesterol test, liver function 

test, or test for the presence of alcohol 

or drugs is not a genetic test. 

(ii) The rules of this paragraph (a)(5) 

are illustrated by the following example: 

Example. (i) Facts. Individual A is a 

newborn covered under a group health plan. 

A undergoes a phenylketonuria (PKU) 

screening, which measures the concentration 

of a metabolite, phenylalanine, in A’s blood. 

In PKU, a mutation occurs in the 

phenylalanine hydroxylase (PAH) gene 

which contains instructions for making the 

enzyme needed to break down the amino 

acid phenylalanine. Individuals with the 

mutation, who have a deficiency in the 

enzyme to break down phenylalanine, have 

high concentrations of phenylalanine. 

(ii) Conclusion. In this Example, the 

PKU screening is a genetic test with 

respect to A because the screening is an 

analysis of metabolites that detects a 

genetic mutation. 

(6)(i) Manifestation or manifested 

means, with respect to a disease, 

disorder, or pathological condition, that 

an individual has been or could 

reasonably be diagnosed with the 

disease, disorder, or pathological 

condition by a health care professional 

with appropriate training and expertise 

in the field of medicine involved. For 

purposes of this section, a disease, 

disorder, or pathological condition is 

not manifested if a diagnosis is based 

principally on genetic information. 

(ii) The rules of this paragraph (a)(6) 

are illustrated by the following 

examples: 

Example 1. (i) Facts. Individual A has a 

family medical history of diabetes. A begins 

to experience excessive sweating, thirst, and 

fatigue. A’s physician examines A and orders 

blood glucose testing (which is not a genetic 

test). Based on the physician’s examination, 

A’s symptoms, and test results that show 

elevated levels of blood glucose, A’s 

physician diagnoses A as having adult onset 

diabetes mellitus (Type 2 diabetes). 

(ii) Conclusion. In this Example 1, A has 

been diagnosed by a health care professional 

with appropriate training and expertise in the 

field of medicine involved. The diagnosis is 

not based principally on genetic information. 

Thus, Type 2 diabetes is manifested with 

respect to A. 

Example 2. (i) Facts. Individual B has 

several family members with colon cancer. 

One of them underwent genetic testing which 

detected a mutation in the MSH2 gene 

associated with hereditary nonpolyposis 

colorectal cancer (HNPCC). B’s physician, a 

health care professional with appropriate 

training and expertise in the field of 

medicine involved, recommends that B 

undergo a targeted genetic test to look for the 

specific mutation found in B’s relative to 

determine if B has an elevated risk for cancer. 

The genetic test with respect to B showed 

that B also carries the mutation and is at 

increased risk to develop colorectal and other 

cancers associated with HNPCC. B has a 

colonoscopy which indicates no signs of 

disease, and B has no symptoms. 

(ii) Conclusion. In this Example 2, because 

B has no signs or symptoms of colorectal 

cancer, B has not been and could not 

reasonably be diagnosed with HNPCC. Thus, 

HNPCC is not manifested with respect to B. 

Example 3. (i) Facts. Same facts as 

Example 2, except that B’s colonoscopy and 

subsequent tests indicate the presence of 

HNPCC. Based on the colonoscopy and 

subsequent test results, B’s physician makes 

a diagnosis of HNPCC. 

(ii) Conclusion. In this Example 3, HNPCC 

is manifested with respect to B because a 

health care professional with appropriate 

training and expertise in the field of 

medicine involved has made a diagnosis that 

is not based principally on genetic 

information. 

Example 4. (i) Facts. Individual C has a 

family member that has been diagnosed with 

Huntington’s Disease. A genetic test indicates 

that C has the Huntington’s Disease gene 

variant. At age 42, C begins suffering from 

occasional moodiness and disorientation, 

symptoms which are associated with 

Huntington’s Disease. C is examined by a 

neurologist (a physician with appropriate 

training and expertise for diagnosing 

Huntington’s Disease). The examination 

includes a clinical neurological exam. The 

results of the examination do not support a 

diagnosis of Huntington’s Disease. 

(ii) Conclusion. In this Example 4, C is not 

and could not reasonably be diagnosed with 

Huntington’s Disease by a health care 

professional with appropriate training and 

expertise. Therefore, Huntington’s Disease is 

not manifested with respect to C. 

Example 5. (i) Facts. Same facts as 

Example 4, except that C exhibits additional 

neurological and behavioral symptoms, and 

the results of the examination support a 

diagnosis of Huntington’s Disease with 

respect to C. 

(ii) Conclusion. In this Example 5, C could 

reasonably be diagnosed with Huntington’s 

Disease by a health care professional with 

appropriate training and expertise. Therefore, 

Huntington’s Disease is manifested with 

respect to C. 

(7) Underwriting purposes has the 

meaning given in paragraph (d)(1) of 

this section. 

(b) No group-based discrimination 

based on genetic information—(1) In 

general. For purposes of this section, a 

group health plan must not adjust 

premium or contribution amounts for 

any employer, or any group of similarly 

situated individuals under the plan, on 

the basis of genetic information. For this 

purpose, ‘‘similarly situated 

individuals’’ are those described in 

§ 54.9802–1(d). 

(2) Rule of construction. Nothing in 

paragraph (b)(1) of this section (or in 

paragraph (d)(1) or (d)(2) of this section) 

limits the ability of a group health plan 

to increase the premium for an 


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51680 Federal Register / Vol. 74, No. 193 / Wednesday, October 7, 2009 / Rules and Regulations 

employer or for a group of similarly 

situated individuals under the plan 

based on the manifestation of a disease 

or disorder of an individual who is 

enrolled in the plan. In such a case, 

however, the manifestation of a disease 

or disorder in one individual cannot 

also be used as genetic information 

about other group members to further 

increase the premium for an employer 

or a group of similarly situated 

individuals under the plan. 

(3) Examples. The rules of this 

paragraph (b) are illustrated by the 

following examples: 

Example 1. (i) Facts. An employer sponsors 

a group health plan that provides coverage 

through a health insurance issuer. In order to 

determine the premium rate for the 

upcoming plan year, the issuer reviews the 

claims experience of individuals covered 

under the plan and other health status 

information of the individuals, including 

genetic information. The issuer finds that 

three individuals covered under the plan had 

unusually high claims experience. In 

addition, the issuer finds that the genetic 

information of two other individuals 

indicates the individuals have a higher 

probability of developing certain illnesses 

although the illnesses are not manifested at 

this time. The issuer quotes the plan a higher 

per-participant rate because of both the 

genetic information and the higher claims 

experience. 

(ii) Conclusion. See Example 1 in 29 CFR 

2590.702–1(b)(3) or 45 CFR 146.122(b)(3) for 

a conclusion that the issuer violates the 

provisions of 29 CFR 2590.702–1(b) or 45 

CFR 146.122(b) similar to the requirements of 

this paragraph (b) because the issuer adjusts 

the premium based on genetic information. 

However, if the adjustment related solely to 

claims experience, the adjustment would not 

violate the requirements of 29 CFR 2590.702– 

1 or 45 CFR 146.122 similar to the 

requirements of this section (nor would it 

violate the requirements of paragraph (c) of 

29 CFR 2590.702 or 45 CFR 146.121 similar 

to the requirements of paragraph (c) of 

§ 54.9802–1, which prohibits discrimination 

in individual premiums or contributions 

based on a health factor but permits increases 

in the group rate based on a health factor). 

Example 2. (i) Facts. An employer sponsors 

a group health plan that provides coverage 

through a health insurance issuer. In order to 

determine the premium rate for the 

upcoming plan year, the issuer reviews the 

claims experience of individuals covered 

under the plan and other health status 

information of the individuals, including 

genetic information. The issuer finds that 

Employee A has made claims for treatment 

of polycystic kidney disease. A also has two 

dependent children covered under the plan. 

The issuer quotes the plan a higher perparticipant rate because of both A’s claims 

experience and the family medical history of 

A’s children (that is, the fact that A has the 

disease). 

(ii) Conclusion. See Example 2 in 29 CFR 

2590.702–1(b)(3) or 45 CFR 146.122(b)(3) for 

a conclusion that the issuer violates the 

provisions of 29 CFR 2590.702–1(b) or 45 

CFR 146.122(b) similar to the requirements of 

this paragraph (b) because, by taking the 

likelihood that A’s children may develop 

polycystic kidney disease into account in 

computing the rate for the plan, the issuer 

adjusts the premium based on genetic 

information relating to a condition that has 

not been manifested in A’s children. 

However, the issuer does not violate the 

requirements of 29 CFR 2590.702–1(b) or 45 

CFR 146.122(b) similar to the requirements of 

this paragraph (b) by increasing the premium 

based on A’s claims experience. 

(c) Limitation on requesting or 

requiring genetic testing—(1) General 

rule. Except as otherwise provided in 

this paragraph (c), a group health plan 

must not request or require an 

individual or a family member of the 

individual to undergo a genetic test. 

(2) Health care professional may 

recommend a genetic test. Nothing in 

paragraph (c)(1) of this section limits the 

authority of a health care professional 

who is providing health care services to 

an individual to request that the 

individual undergo a genetic test. 

(3) Examples. The rules of paragraphs 

(c)(1) and (c)(2) of this section are 

illustrated by the following examples: 

Example 1. (i) Facts. Individual A goes to 

a physician for a routine physical 

examination. The physician reviews A’s 

family medical history and A informs the 

physician that A’s mother has been 

diagnosed with Huntington’s Disease. The 

physician advises A that Huntington’s 

Disease is hereditary and recommends that A 

undergo a genetic test. 

(ii) Conclusion. In this Example 1, the 

physician is a health care professional who 

is providing health care services to A. 

Therefore, the physician’s recommendation 

that A undergo the genetic test does not 

violate this paragraph (c). 

Example 2. (i) Facts. Individual B is 

covered by a health maintenance 

organization (HMO). B is a child being 

treated for leukemia. B’s physician, who is 

employed by the HMO, is considering a 

treatment plan that includes sixmercaptopurine, a drug for treating leukemia 

in most children. However, the drug could be 

fatal if taken by a small percentage of 

children with a particular gene variant. B’s 

physician recommends that B undergo a 

genetic test to detect this variant before 

proceeding with this course of treatment. 

(ii) Conclusion. In this Example 2, even 

though the physician is employed by the 

HMO, the physician is nonetheless a health 

care professional who is providing health 

care services to B. Therefore, the physician’s 

recommendation that B undergo the genetic 

test does not violate this paragraph (c). 

(4) Determination regarding 

payment—(i) In general. As provided in 

this paragraph (c)(4), nothing in 

paragraph (c)(1) of this section 

precludes a plan from obtaining and 

using the results of a genetic test in 

making a determination regarding 

payment. For this purpose, ‘‘payment’’ 

has the meaning given such term in 45 

CFR 164.501 of the privacy regulations 

issued under the Health Insurance 

Portability and Accountability Act. 

Thus, if a plan conditions payment for 

an item or service based on its medical 

appropriateness and the medical 

appropriateness of the item or service 

depends on the genetic makeup of a 

patient, then the plan is permitted to 

condition payment for the item or 

service on the outcome of a genetic test. 

The plan may also refuse payment if the 

patient does not undergo the genetic 

test. 

(ii) Limitation. A plan is permitted to 

request only the minimum amount of 

information necessary to make a 

determination regarding payment. The 

minimum amount of information 

necessary is determined in accordance 

with the minimum necessary standard 

in 45 CFR 164.502(b) of the privacy 

regulations issued under the Health 

Insurance Portability and 

Accountability Act. 

(iii) Examples. See paragraph (e) of 

this section for examples illustrating the 

rules of this paragraph (c)(4), as well as 

other provisions of this section. 

(5) Research exception. 

Notwithstanding paragraph (c)(1) of this 

section, a plan may request, but not 

require, that a participant or beneficiary 

undergo a genetic test if all of the 

conditions of this paragraph (c)(5) are 

met: 

(i) Research in accordance with 

Federal regulations and applicable State 

or local law or regulations. The plan 

makes the request pursuant to research, 

as defined in 45 CFR 46.102(d), that 

complies with 45 CFR Part 46 or 

equivalent Federal regulations, and any 

applicable State or local law or 

regulations for the protection of human 

subjects in research. 

(ii) Written request for participation in 

research. The plan makes the request in 

writing, and the request clearly 

indicates to each participant or 

beneficiary (or, in the case of a minor 

child, to the legal guardian of the 

beneficiary) that— 

(A) Compliance with the request is 

voluntary; and 

(B) Noncompliance will have no effect 

on eligibility for benefits (as described 

in § 54.9802–1(b)(1)) or premium or 

contribution amounts. 

(iii) Prohibition on underwriting. No 

genetic information collected or 

acquired under this paragraph (c)(5) can 

be used for underwriting purposes (as 

described in paragraph (d)(1) of this 

section). 


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(iv) Notice to Federal agencies. The 

plan completes a copy of the ‘‘Notice of 

Research Exception under the Genetic 

Information Nondiscrimination Act’’ 

authorized by the Secretary and 

provides the notice to the address 

specified in the instructions thereto. 

(d) Prohibitions on collection of 

genetic information—(1) For 

underwriting purposes—(i) General rule. 

A group health plan must not collect (as 

defined in paragraph (a)(1) of this 

section) genetic information for 

underwriting purposes. See paragraph 

(e) of this section for examples 

illustrating the rules of this paragraph 

(d)(1), as well as other provisions of this 

section. 

(ii) Underwriting purposes defined. 

Subject to paragraph (d)(1)(iii) of this 

section, underwriting purposes means, 

with respect to any group health plan, 

or health insurance coverage offered in 

connection with a group health plan— 

(A) Rules for, or determination of, 

eligibility (including enrollment and 

continued eligibility) for benefits under 

the plan or coverage as described in 

§ 54.9802–1(b)(1)(ii) (including changes 

in deductibles or other cost-sharing 

mechanisms in return for activities such 

as completing a health risk assessment 

or participating in a wellness program); 

(B) The computation of premium or 

contribution amounts under the plan or 

coverage (including discounts, rebates, 

payments in kind, or other premium 

differential mechanisms in return for 

activities such as completing a health 

risk assessment or participating in a 

wellness program); 

(C) The application of any preexisting 

condition exclusion under the plan or 

coverage; and 

(D) Other activities related to the 

creation, renewal, or replacement of a 

contract of health insurance or health 

benefits. 

(iii) Medical appropriateness. If an 

individual seeks a benefit under a group 

health plan, the plan may limit or 

exclude the benefit based on whether 

the benefit is medically appropriate, and 

the determination of whether the benefit 

is medically appropriate is not within 

the meaning of underwriting purposes. 

Accordingly, if an individual seeks a 

benefit under the plan and the plan 

conditions the benefit based on its 

medical appropriateness and the 

medical appropriateness of the benefit 

depends on genetic information of the 

individual, then the plan is permitted to 

condition the benefit on the genetic 

information. A plan is permitted to 

request only the minimum amount of 

genetic information necessary to 

determine medical appropriateness. The 

plan may deny the benefit if the patient 

does not provide the genetic 

information required to determine 

medical appropriateness. If an 

individual is not seeking a benefit, the 

medical appropriateness exception of 

this paragraph (d)(1)(iii) to the 

definition of underwriting purposes 

does not apply. See paragraph (e) of this 

section for examples illustrating the 

medical appropriateness provisions of 

this paragraph (d)(1)(iii), as well as 

other provisions of this section. 

(2) Prior to or in connection with 

enrollment—(i) In general. A group 

health plan must not collect genetic 

information with respect to any 

individual prior to that individual’s 

effective date of coverage under that 

plan, nor in connection with the rules 

for eligibility (as defined in § 54.9802– 

1(b)(1)(ii)) that apply to that individual. 

Whether or not an individual’s 

information is collected prior to that 

individual’s effective date of coverage is 

determined at the time of collection. 

(ii) Incidental collection exception— 

(A) In general. If a group health plan 

obtains genetic information incidental 

to the collection of other information 

concerning any individual, the 

collection is not a violation of this 

paragraph (d)(2), as long as the 

collection is not for underwriting 

purposes in violation of paragraph (d)(1) 

of this section. 

(B) Limitation. The incidental 

collection exception of this paragraph 

(d)(2)(ii) does not apply in connection 

with any collection where it is 

reasonable to anticipate that health 

information will be received, unless the 

collection explicitly states that genetic 

information should not be provided. 

(3) Examples. The rules of this 

paragraph (d) are illustrated by the 

following examples: 

Example 1. (i) Facts. A group health plan 

provides a premium reduction to enrollees 

who complete a health risk assessment. The 

health risk assessment is requested to be 

completed after enrollment. Whether or not 

it is completed or what responses are given 

on it has no effect on an individual’s 

enrollment status, or on the enrollment status 

of members of the individual’s family. The 

health risk assessment includes questions 

about the individual’s family medical 

history. 

(ii) Conclusion. In this Example 1, the 

health risk assessment includes a request for 

genetic information (that is, the individual’s 

family medical history). Because completing 

the health risk assessment results in a 

premium reduction, the request for genetic 

information is for underwriting purposes. 

Consequently, the request violates the 

prohibition on the collection of genetic 

information in paragraph (d)(1) of this 

section. 

Example 2. (i) Facts. The same facts as 

Example 1, except there is no premium 

reduction or any other reward for completing 

the health risk assessment. 

(ii) Conclusion. In this Example 2, the 

request is not for underwriting purposes, nor 

is it prior to or in connection with 

enrollment. Therefore, it does not violate the 

prohibition on the collection of genetic 

information in this paragraph (d). 

Example 3. (i) Facts. A group health plan 

requests that enrollees complete a health risk 

assessment prior to enrollment, and includes 

questions about the individual’s family 

medical history. There is no reward or 

penalty for completing the health risk 

assessment. 

(ii) Conclusion. In this Example 3, because 

the health risk assessment includes a request 

for genetic information (that is, the 

individual’s family medical history), and 

requests the information prior to enrollment, 

the request violates the prohibition on the 

collection of genetic information in 

paragraph (d)(2) of this section. Moreover, 

because it is a request for genetic 

information, it is not an incidental collection 

under paragraph (d)(2)(ii) of this section. 

Example 4. (i) Facts. The facts are the same 

as in Example 1, except there is no premium 

reduction or any other reward given for 

completion of the health risk assessment. 

However, certain people completing the 

health risk assessment may become eligible 

for additional benefits under the plan by 

being enrolled in a disease management 

program based on their answers to questions 

about family medical history. Other people 

may become eligible for the disease 

management program based solely on their 

answers to questions about their individual 

medical history. 

(ii) Conclusion. In this Example 4, the 

request for information about an individual’s 

family medical history could result in the 

individual being eligible for benefits for 

which the individual would not otherwise be 

eligible. Therefore, the questions about 

family medical history on the health risk 

assessment are a request for genetic 

information for underwriting purposes and 

are prohibited under this paragraph (d). 

Although the plan conditions eligibility for 

the disease management program based on 

determinations of medical appropriateness, 

the exception for determinations of medical 

appropriateness does not apply because the 

individual is not seeking benefits. 

Example 5. (i) Facts. A group health plan 

requests enrollees to complete two distinct 

health risk assessments (HRAs) after and 

unrelated to enrollment. The first HRA 

instructs the individual to answer only for 

the individual and not for the individual’s 

family. The first HRA does not ask about any 

genetic tests the individual has undergone or 

any genetic services the individual has 

received. The plan offers a reward for 

completing the first HRA. The second HRA 

asks about family medical history and the 

results of genetic tests the individual has 

undergone. The plan offers no reward for 

completing the second HRA and the 

instructions make clear that completion of 

the second HRA is wholly voluntary and will 

not affect the reward given for completion of 

the first HRA. 

(ii) Conclusion. In this Example 5, no 

genetic information is collected in 


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connection with the first HRA, which offers 

a reward, and no benefits or other rewards 

are conditioned on the request for genetic 

information in the second HRA. 

Consequently, the request for genetic 

information in the second HRA is not for 

underwriting purposes, and the two HRAs do 

not violate the prohibition on the collection 

of genetic information in this paragraph (d). 

Example 6. (i) Facts. A group health plan 

waives its annual deductible for enrollees 

who complete an HRA. The HRA is requested 

to be completed after enrollment. Whether or 

not the HRA is completed or what responses 

are given on it has no effect on an 

individual’s enrollment status, or on the 

enrollment status of members of the 

individual’s family. The HRA does not 

include any direct questions about the 

individual’s genetic information (including 

family medical history). However, the last 

question reads, ‘‘Is there anything else 

relevant to your health that you would like 

us to know or discuss with you?’’ 

(ii) Conclusion. In this Example 6, the 

plan’s request for medical information does 

not explicitly state that genetic information 

should not be provided. Therefore, any 

genetic information collected in response to 

the question is not within the incidental 

collection exception and is prohibited under 

this paragraph (d). 

Example 7. (i) Facts. Same facts as 

Example 6, except that the last question goes 

on to state, ‘‘In answering this question, you 

should not include any genetic information. 

That is, please do not include any family 

medical history or any information related to 

genetic testing, genetic services, genetic 

counseling, or genetic diseases for which you 

believe you may be at risk.’’ 

(ii) Conclusion. In this Example 7, the 

plan’s request for medical information 

explicitly states that genetic information 

should not be provided. Therefore, any 

genetic information collected in response to 

the question is within the incidental 

collection exception. However, the plan may 

not use any genetic information it obtains 

incidentally for underwriting purposes. 

Example 8. (i) Facts. Issuer M acquires 

Issuer N. M requests N’s records, stating that 

N should not provide genetic information 

and should review the records to excise any 

genetic information. N assembles the data 

requested by M and, although N reviews it 

to delete genetic information, the data from 

a specific region included some individuals’ 

family medical history. Consequently, M 

receives genetic information about some of 

N’s covered individuals. 

(ii) Conclusion. In this Example 8, M’s 

request for health information explicitly 

stated that genetic information should not be 

provided. See Example 8 in 29 CFR 

2590.702–1(d)(3) or 45 CFR 146.122(d)(3) for 

a conclusion that the collection of genetic 

information was within the incidental 

collection exception of 29 CFR 2590.702– 

1(d)(2)(ii) or 45 CFR 146.122(d)(ii) similar to 

the incidental exception of paragraph 

(d)(2)(ii) of this section. See Example 8 in 29 

CFR 2590.702–1(d)(3) or 45 CFR 

146.122(d)(3) also for a caveat that M may not 

use the genetic information it obtained 

incidentally for underwriting purposes. 

(e) Examples regarding 

determinations of medical 

appropriateness. The application of the 

rules of paragraphs (c) and (d) of this 

section to plan determinations of 

medical appropriateness is illustrated 

by the following examples: 

Example 1. (i) Facts. Individual A’s group 

health plan covers genetic testing for celiac 

disease for individuals who have family 

members with this condition. After A’s son 

is diagnosed with celiac disease, A undergoes 

a genetic test and promptly submits a claim 

for the test to A’s issuer for reimbursement. 

The issuer asks A to provide the results of 

the genetic test before the claim is paid. 

(ii) Conclusion. See Example 1 in 29 CFR 

2590.702–1(e) or 45 CFR 146.122(e) for a 

conclusion under the rules of paragraph 

(c)(4) of 29 CFR 2590.702–1 or 45 CFR 

146.122 similar to the rules of paragraph 

(c)(4) of this section that the issuer is 

permitted to request only the minimum 

amount of information necessary to make a 

decision regarding payment. Because the 

results of the test are not necessary for the 

issuer to make a decision regarding the 

payment of A’s claim, the conclusion in 

Example 1 in 29 CFR 2590.702–1(e) or 45 

CFR 146.122(e) concludes that the issuer’s 

request for the results of the genetic test 

violates paragraph (c) of 29 CFR 2590.702–1 

or 45 CFR 146.122 similar to paragraph (c) of 

this section. 

Example 2. (i) Facts. Individual B’s group 

health plan covers a yearly mammogram for 

participants and beneficiaries starting at age 

40, or at age 30 for those with increased risk 

for breast cancer, including individuals with 

BRCA1 or BRCA2 gene mutations. B is 33 

years old and has the BRCA2 mutation. B 

undergoes a mammogram and promptly 

submits a claim to B’s plan for 

reimbursement. Following an established 

policy, the plan asks B for evidence of 

increased risk of breast cancer, such as the 

results of a genetic test or a family history of 

breast cancer, before the claim for the 

mammogram is paid. This policy is applied 

uniformly to all similarly situated 

individuals and is not directed at individuals 

based on any genetic information. 

(ii) Conclusion. In this Example 2, the plan 

does not violate paragraphs (c) or (d) of this 

section. Under paragraph (c), the plan is 

permitted to request and use the results of a 

genetic test to make a determination 

regarding payment, provided the plan 

requests only the minimum amount of 

information necessary. Because the medical 

appropriateness of the mammogram depends 

on the genetic makeup of the patient, the 

minimum amount of information necessary 

includes the results of the genetic test. 

Similarly, the plan does not violate 

paragraph (d) of this section because the plan 

is permitted to request genetic information in 

making a determination regarding the 

medical appropriateness of a claim if the 

genetic information is necessary to make the 

determination (and if the genetic information 

is not used for underwriting purposes). 

Example 3. (i) Facts. Individual C was 

previously diagnosed with and treated for 

breast cancer, which is currently in 

remission. In accordance with the 

recommendation of C’s physician, C has been 

taking a regular dose of tamoxifen to help 

prevent a recurrence. C’s group health plan 

adopts a new policy requiring patients taking 

tamoxifen to undergo a genetic test to ensure 

that tamoxifen is medically appropriate for 

their genetic makeup. In accordance with, at 

the time, the latest scientific research, 

tamoxifen is not helpful in up to 7 percent 

of breast cancer patients, those with certain 

variations of the gene for making the CYP2D6 

enzyme. If a patient has a gene variant 

making tamoxifen not medically appropriate, 

the plan does not pay for the tamoxifen 

prescription. 

(ii) Conclusion. In this Example 3, the plan 

does not violate paragraph (c) of this section 

if it conditions future payments for the 

tamoxifen prescription on C’s undergoing a 

genetic test to determine what genetic 

markers C has for making the CYP2D6 

enzyme. Nor does the plan violate paragraph 

(c) of this section if the plan refuses future 

payment if the results of the genetic test 

indicate that tamoxifen is not medically 

appropriate for C. 

Example 4. (i) Facts. A group health plan 

offers a diabetes disease management 

program to all similarly situated individuals 

for whom it is medically appropriate based 

on whether the individuals have or are at risk 

for diabetes. The program provides enhanced 

benefits related only to diabetes for 

individuals who qualify for the program. The 

plan sends out a notice to all participants 

that describes the diabetes disease 

management program and explains the terms 

for eligibility. Individuals interested in 

enrolling in the program are advised to 

contact the plan to demonstrate that they 

have diabetes or that they are at risk for 

diabetes. For individuals who do not 

currently have diabetes, genetic information 

may be used to demonstrate that an 

individual is at risk. 

(ii) Conclusion. In this Example 4, the plan 

may condition benefits under the disease 

management program upon a showing by an 

individual that the individual is at risk for 

diabetes, even if such showing may involve 

genetic information, provided that the plan 

requests genetic information only when 

necessary to make a determination regarding 

whether the disease management program is 

medically appropriate for the individual and 

only requests the minimum amount of 

information necessary to make that 

determination. 

Example 5. (i) Facts. Same facts as 

Example 4, except that the plan includes a 

questionnaire that asks about the occurrence 

of diabetes in members of the individual’s 

family as part of the notice describing the 

disease management program. 

(ii) Conclusion. In this Example 5, the plan 

violates the requirements of paragraph (d)(1) 

of this section because the requests for 

genetic information are not limited to those 

situations in which it is necessary to make 

a determination regarding whether the 

disease management program is medically 

appropriate for the individuals. 

Example 6. (i) Facts. Same facts as 

Example 4, except the disease management 

program provides an enhanced benefit in the 


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form of a lower annual deductible to 

individuals under the program; the lower 

deductible applies with respect to all medical 

expenses incurred by the individual. Thus, 

whether or not a claim relates to diabetes, the 

individual is provided with a lower 

deductible based on the individual providing 

the plan with genetic information. 

(ii) Conclusion. In this Example 6, because 

the enhanced benefits include benefits not 

related to the determination of medical 

appropriateness, making available the 

enhanced benefits is within the meaning of 

underwriting purposes. Accordingly, the 

plan may not request or require genetic 

information (including family history 

information) in determining eligibility for 

enhanced benefits under the program 

because such a request would be for 

underwriting purposes and would violate 

paragraph (d)(1) of this section. 

(f) Effective/applicability date. This 

section applies for plan years beginning 

on or after December 7, 2009. 

(g) Expiration date. This section 

expires on or before October 1, 2012. 

Linda E. Stiff, 

Deputy Commissioner for Services and 

Enforcement, Internal Revenue Service. 

Approved: September 11, 2009. 

Michael Mundaca, 

Acting Assistant Secretary of the Treasury 

(Tax Policy). 

Employee Benefits Security 

Administration 

29 CFR Chapter XXV 

■ For the reasons stated in the preamble, 

29 CFR Part 2590 is amended as follows: 

PART 2590—RULES AND 

REGULATIONS FOR GROUP HEALTH 

PLANS 

■ 1. The authority citation for Part 2590 

is amended to read as follows: 

Authority: 29 U.S.C. 1027, 1059, 1135, 

1161–1168, 1169, 1181–1183, 1181 note, 

1185, 1185a, 1185b, 1191, 1191a, 1191b, and 

1191c; sec. 101(g), Public Law 104–191, 110 

Stat. 1936; sec. 401(b), Public Law 105–200, 

112 Stat. 645 (42 U.S.C. 651 note); sec. 101(f), 

Public Law 110–233, 122 Stat. 881; Secretary 

of Labor’s Order 1–2003, 68 FR 5374 (Feb. 3, 

2003). 

■ 2. Section 2590.701–1 is amended by 

revising paragraph (b)(6) and adding 

paragraph (b)(7) to read as follows: 

§ 2590.701–1 Basis and scope. 

* * * * * 

(b) * * * 

(6) Additional requirements 

prohibiting discrimination based on 

genetic information. 

(7) Use of an affiliation period by an 

HMO as an alternative to a preexisting 

condition exclusion. 

* * * * * 

■ 3. Section 2590.701–2 is amended by 

revising the definition of genetic 

information to read as follows: 

§ 2590.701–2 Definitions. 

* * * * * 

Genetic information has the meaning 

given the term in § 2590.702–1(a)(3) of 

this Part. 

* * * * * 

■ 4. Section 2590.702 is amended by 

revising paragraphs (a)(1)(vi), (c)(2)(i), 

and (c)(2)(iii) to read as follows: 

§ 2590.702 Prohibiting discrimination 

against participants and beneficiaries 

based on a health factor. 

(a) * * * 

(1) * * * 

(vi) Genetic information, as defined in 

§ 2590.702–1(a)(3) of this Part. 

* * * * * 

(c) * * * 

(2) * * * (i) Group rating based on 

health factors not restricted under this 

section. Nothing in this section restricts 

the aggregate amount that an employer 

may be charged for coverage under a 

group health plan. But see § 2590.702– 

1(b) of this Part, which prohibits 

adjustments in group premium or 

contribution rates based on genetic 

information. 

* * * * * 

(iii) Examples. The rules of this 

paragraph (c)(2) are illustrated by the 

following examples: 

Example 1. (i) Facts. An employer sponsors 

a group health plan and purchases coverage 

from a health insurance issuer. In order to 

determine the premium rate for the 

upcoming plan year, the issuer reviews the 

claims experience of individuals covered 

under the plan. The issuer finds that 

Individual F had significantly higher claims 

experience than similarly situated 

individuals in the plan. The issuer quotes the 

plan a higher per-participant rate because of 

F’s claims experience. 

(ii) Conclusion. In this Example 1, the 

issuer does not violate the provisions of this 

paragraph (c)(2) because the issuer blends the 

rate so that the employer is not quoted a 

higher rate for F than for a similarly situated 

individual based on F’s claims experience. 

(However, if the issuer used genetic 

information in computing the group rate, it 

would violate § 2590.702–1(b) of this Part.) 

* * * * * 

■ 5. Add § 2590.702–1 to read as 

follows: 

§ 2590.702–1 Additional requirements 

prohibiting discrimination based on genetic 

information. 

(a) Definitions. Unless otherwise 

provided, the definitions in this 

paragraph (a) govern in applying the 

provisions of this section. 

(1) Collect means, with respect to 

information, to request, require, or 

purchase such information. 

(2) Family member means, with 

respect to an individual— 

(i) A dependent (as defined for 

purposes of § 2590.701–2 of this Part) of 

the individual; or 

(ii) Any other person who is a firstdegree, second-degree, third-degree, or 

fourth-degree relative of the individual 

or of a dependent of the individual. 

Relatives by affinity (such as by 

marriage or adoption) are treated the 

same as relatives by consanguinity (that 

is, relatives who share a common 

biological ancestor). In determining the 

degree of the relationship, relatives by 

less than full consanguinity (such as 

half-siblings, who share only one 

parent) are treated the same as relatives 

by full consanguinity (such as siblings 

who share both parents). 

(A) First-degree relatives include 

parents, spouses, siblings, and children. 

(B) Second-degree relatives include 

grandparents, grandchildren, aunts, 

uncles, nephews, and nieces. 

(C) Third-degree relatives include 

great-grandparents, great-grandchildren, 

great aunts, great uncles, and first 

cousins. 

(D) Fourth-degree relatives include 

great-great grandparents, great-great 

grandchildren, and children of first 

cousins. 

(3) Genetic information means—(i) 

Subject to paragraphs (a)(3)(ii) and 

(a)(3)(iii) of this section, with respect to 

an individual, information about— 

(A) The individual’s genetic tests (as 

defined in paragraph (a)(5) of this 

section); 

(B) The genetic tests of family 

members of the individual; 

(C) The manifestation (as defined in 

paragraph (a)(6) of this section) of a 

disease or disorder in family members 

of the individual; or 

(D) Any request for, or receipt of, 

genetic services (as defined in paragraph 

(a)(4) of this section), or participation in 

clinical research which includes genetic 

services, by the individual or any family 

member of the individual. 

(ii) The term genetic information does 

not include information about the sex or 

age of any individual. 

(iii) The term genetic information 

includes— 

(A) With respect to a pregnant woman 

(or a family member of the pregnant 

woman), genetic information of any 

fetus carried by the pregnant woman; 

and 

(B) With respect to an individual (or 

a family member of the individual) who 

is utilizing an assisted reproductive 

technology, genetic information of any 


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embryo legally held by the individual or 

family member. 

(4) Genetic services means— 

(i) A genetic test, as defined in 

paragraph (a)(5) of this section; 

(ii) Genetic counseling (including 

obtaining, interpreting, or assessing 

genetic information); or 

(iii) Genetic education. 

(5)(i) Genetic test means an analysis of 

human DNA, RNA, chromosomes, 

proteins, or metabolites, if the analysis 

detects genotypes, mutations, or 

chromosomal changes. However, a 

genetic test does not include an analysis 

of proteins or metabolites that is directly 

related to a manifested disease, 

disorder, or pathological condition. 

Accordingly, a test to determine 

whether an individual has a BRCA1 or 

BRCA2 variant is a genetic test. 

Similarly, a test to determine whether 

an individual has a genetic variant 

associated with hereditary nonpolyposis 

colorectal cancer is a genetic test. 

However, an HIV test, complete blood 

count, cholesterol test, liver function 

test, or test for the presence of alcohol 

or drugs is not a genetic test. 

(ii) The rules of this paragraph (a)(5) 

are illustrated by the following example: 

Example. (i) Facts. Individual A is a 

newborn covered under a group health plan. 

A undergoes a phenylketonuria (PKU) 

screening, which measures the concentration 

of a metabolite, phenylalanine, in A’s blood. 

In PKU, a mutation occurs in the 

phenylalanine hydroxylase (PAH) gene 

which contains instructions for making the 

enzyme needed to break down the amino 

acid phenylalanine. Individuals with the 

mutation, who have a deficiency in the 

enzyme to break down phenylalanine, have 

high concentrations of phenylalanine. 

(ii) Conclusion. In this Example, the PKU 

screening is a genetic test with respect to A 

because the screening is an analysis of 

metabolites that detects a genetic mutation. 

(6)(i) Manifestation or manifested 

means, with respect to a disease, 

disorder, or pathological condition, that 

an individual has been or could 

reasonably be diagnosed with the 

disease, disorder, or pathological 

condition by a health care professional 

with appropriate training and expertise 

in the field of medicine involved. For 

purposes of this section, a disease, 

disorder, or pathological condition is 

not manifested if a diagnosis is based 

principally on genetic information. 

(ii) The rules of this paragraph (a)(6) 

are illustrated by the following 

examples: 

Example 1. (i) Facts. Individual A has a 

family medical history of diabetes. A begins 

to experience excessive sweating, thirst, and 

fatigue. A’s physician examines A and orders 

blood glucose testing (which is not a genetic 

test). Based on the physician’s examination, 

A’s symptoms, and test results that show 

elevated levels of blood glucose, A’s 

physician diagnoses A as having adult onset 

diabetes mellitus (Type 2 diabetes). 

(ii) Conclusion. In this Example 1, A has 

been diagnosed by a health care professional 

with appropriate training and expertise in the 

field of medicine involved. The diagnosis is 

not based principally on genetic information. 

Thus, Type 2 diabetes is manifested with 

respect to A. 

Example 2. (i) Facts. Individual B has 

several family members with colon cancer. 

One of them underwent genetic testing which 

detected a mutation in the MSH2 gene 

associated with hereditary nonpolyposis 

colorectal cancer (HNPCC). B’s physician, a 

health care professional with appropriate 

training and expertise in the field of 

medicine involved, recommends that B 

undergo a targeted genetic test to look for the 

specific mutation found in B’s relative to 

determine if B has an elevated risk for cancer. 

The genetic test with respect to B showed 

that B also carries the mutation and is at 

increased risk to develop colorectal and other 

cancers associated with HNPCC. B has a 

colonoscopy which indicates no signs of 

disease, and B has no symptoms. 

(ii) Conclusion. In this Example 2, because 

B has no signs or symptoms of colorectal 

cancer, B has not been and could not 

reasonably be diagnosed with HNPCC. Thus, 

HNPCC is not manifested with respect to B. 

Example 3. (i) Facts. Same facts as 

Example 2, except that B’s colonoscopy and 

subsequent tests indicate the presence of 

HNPCC. Based on the colonoscopy and 

subsequent test results, B’s physician makes 

a diagnosis of HNPCC. 

(ii) Conclusion. In this Example 3, HNPCC 

is manifested with respect to B because a 

health care professional with appropriate 

training and expertise in the field of 

medicine involved has made a diagnosis that 

is not based principally on genetic 

information. 

Example 4. (i) Facts. Individual C has a 

family member that has been diagnosed with 

Huntington’s Disease. A genetic test indicates 

that C has the Huntington’s Disease gene 

variant. At age 42, C begins suffering from 

occasional moodiness and disorientation, 

symptoms which are associated with 

Huntington’s Disease. C is examined by a 

neurologist (a physician with appropriate 

training and expertise for diagnosing 

Huntington’s Disease). The examination 

includes a clinical neurological exam. The 

results of the examination do not support a 

diagnosis of Huntington’s Disease. 

(ii) Conclusion. In this Example 4, C is not 

and could not reasonably be diagnosed with 

Huntington’s Disease by a health care 

professional with appropriate training and 

expertise. Therefore, Huntington’s Disease is 

not manifested with respect to C. 

Example 5. (i) Facts. Same facts as 

Example 4, except that C exhibits additional 

neurological and behavioral symptoms, and 

the results of the examination support a 

diagnosis of Huntington’s Disease with 

respect to C. 

(ii) Conclusion. In this Example 5, C could 

reasonably be diagnosed with Huntington’s 

Disease by a health care professional with 

appropriate training and expertise. Therefore, 

Huntington’s Disease is manifested with 

respect to C. 

(7) Underwriting purposes has the 

meaning given in paragraph (d)(1) of 

this section. 

(b) No group-based discrimination 

based on genetic information—(1) In 

general. For purposes of this section, a 

group health plan, and a health 

insurance issuer offering health 

insurance coverage in connection with a 

group health plan, must not adjust 

premium or contribution amounts for 

the plan, or any group of similarly 

situated individuals under the plan, on 

the basis of genetic information. For this 

purpose, ‘‘similarly situated 

individuals’’ are those described in 

§ 2590.702(d) of this Part. 

(2) Rule of construction. Nothing in 

paragraph (b)(1) of this section (or in 

paragraph (d)(1) or (d)(2) of this section) 

limits the ability of a health insurance 

issuer offering health insurance 

coverage in connection with a group 

health plan to increase the premium for 

a group health plan or a group of 

similarly situated individuals under the 

plan based on the manifestation of a 

disease or disorder of an individual who 

is enrolled in the plan. In such a case, 

however, the manifestation of a disease 

or disorder in one individual cannot 

also be used as genetic information 

about other group members to further 

increase the premium for a group health 

plan or a group of similarly situated 

individuals under the plan. 

(3) Examples. The rules of this 

paragraph (b) are illustrated by the 

following examples: 

Example 1. (i) Facts. An employer sponsors 

a group health plan that provides coverage 

through a health insurance issuer. In order to 

determine the premium rate for the 

upcoming plan year, the issuer reviews the 

claims experience of individuals covered 

under the plan and other health status 

information of the individuals, including 

genetic information. The issuer finds that 

three individuals covered under the plan had 

unusually high claims experience. In 

addition, the issuer finds that the genetic 

information of two other individuals 

indicates the individuals have a higher 

probability of developing certain illnesses 

although the illnesses are not manifested at 

this time. The issuer quotes the plan a higher 

per-participant rate because of both the 

genetic information and the higher claims 

experience. 

(ii) Conclusion. In this Example 1, the 

issuer violates the provisions of this 

paragraph (b) because the issuer adjusts the 

premium based on genetic information. 

However, if the adjustment related solely to 

claims experience, the adjustment would not 

violate the requirements of this section (nor 

would it violate the requirements of 

paragraph (c) of § 2590.702 of this Part, 


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which prohibits discrimination in individual 

premiums or contributions based on a health 

factor but permits increases in the group rate 

based on a health factor). 

Example 2. (i) Facts. An employer sponsors 

a group health plan that provides coverage 

through a health insurance issuer. In order to 

determine the premium rate for the 

upcoming plan year, the issuer reviews the 

claims experience of individuals covered 

under the plan and other health status 

information of the individuals, including 

genetic information. The issuer finds that 

Employee A has made claims for treatment 

of polycystic kidney disease. A also has two 

dependent children covered under the plan. 

The issuer quotes the plan a higher perparticipant rate because of both A’s claims 

experience and the family medical history of 

A’s children (that is, the fact that A has the 

disease). 

(ii) Conclusion. In this Example 2, the 

issuer violates the provisions of this 

paragraph (b) because, by taking the 

likelihood that A’s children may develop 

polycystic kidney disease into account in 

computing the rate for the plan, the issuer 

adjusts the premium based on genetic 

information relating to a condition that has 

not been manifested in A’s children. 

However, it is permissible for the issuer to 

increase the premium based on A’s claims 

experience. 

(c) Limitation on requesting or 

requiring genetic testing—(1) General 

rule. Except as otherwise provided in 

this paragraph (c), a group health plan, 

and a health insurance issuer offering 

health insurance coverage in connection 

with a group health plan, must not 

request or require an individual or a 

family member of the individual to 

undergo a genetic test. 

(2) Health care professional may 

recommend a genetic test. Nothing in 

paragraph (c)(1) of this section limits the 

authority of a health care professional 

who is providing health care services to 

an individual to request that the 

individual undergo a genetic test. 

(3) Examples. The rules of paragraphs 

(c)(1) and (2) of this section are 

illustrated by the following examples: 

Example 1. (i) Facts. Individual A goes to 

a physician for a routine physical 

examination. The physician reviews A’s 

family medical history and A informs the 

physician that A’s mother has been 

diagnosed with Huntington’s Disease. The 

physician advises A that Huntington’s 

Disease is hereditary and recommends that A 

undergo a genetic test. 

(ii) Conclusion. In this Example 1, the 

physician is a health care professional who 

is providing health care services to A. 

Therefore, the physician’s recommendation 

that A undergo the genetic test does not 

violate this paragraph (c). 

Example 2. (i) Facts. Individual B is 

covered by a health maintenance 

organization (HMO). B is a child being 

treated for leukemia. B’s physician, who is 

employed by the HMO, is considering a 

treatment plan that includes sixmercaptopurine, a drug for treating leukemia 

in most children. However, the drug could be 

fatal if taken by a small percentage of 

children with a particular gene variant. B’s 

physician recommends that B undergo a 

genetic test to detect this variant before 

proceeding with this course of treatment. 

(ii) Conclusion. In this Example 2, even 

though the physician is employed by the 

HMO, the physician is nonetheless a health 

care professional who is providing health 

care services to B. Therefore, the physician’s 

recommendation that B undergo the genetic 

test does not violate this paragraph (c). 

(4) Determination regarding payment. 

(i) In general. As provided in this 

paragraph (c)(4), nothing in paragraph 

(c)(1) of this section precludes a plan or 

issuer from obtaining and using the 

results of a genetic test in making a 

determination regarding payment. For 

this purpose, ‘‘payment’’ has the 

meaning given such term in 45 CFR 

164.501 of the privacy regulations 

issued under the Health Insurance 

Portability and Accountability Act. 

Thus, if a plan or issuer conditions 

payment for an item or service based on 

its medical appropriateness and the 

medical appropriateness of the item or 

service depends on the genetic makeup 

of a patient, then the plan or issuer is 

permitted to condition payment for the 

item or service on the outcome of a 

genetic test. The plan or issuer may also 

refuse payment if the patient does not 

undergo the genetic test. 

(ii) Limitation. A plan or issuer is 

permitted to request only the minimum 

amount of information necessary to 

make a determination regarding 

payment. The minimum amount of 

information necessary is determined in 

accordance with the minimum 

necessary standard in 45 CFR 164.502(b) 

of the privacy regulations issued under 

the Health Insurance Portability and 

Accountability Act. 

(iii) Examples. See paragraph (e) of 

this section for examples illustrating the 

rules of this paragraph (c)(4), as well as 

other provisions of this section. 

(5) Research exception. 

Notwithstanding paragraph (c)(1) of this 

section, a plan or issuer may request, 

but not require, that a participant or 

beneficiary undergo a genetic test if all 

of the conditions of this paragraph (c)(5) 

are met: 

(i) Research in accordance with 

Federal regulations and applicable State 

or local law or regulations. The plan or 

issuer makes the request pursuant to 

research, as defined in 45 CFR 

46.102(d), that complies with 45 CFR 

Part 46 or equivalent Federal 

regulations, and any applicable State or 

local law or regulations for the 

protection of human subjects in 

research. 

(ii) Written request for participation in 

research. The plan or issuer makes the 

request in writing, and the request 

clearly indicates to each participant or 

beneficiary (or, in the case of a minor 

child, to the legal guardian of the 

beneficiary) that— 

(A) Compliance with the request is 

voluntary; and 

(B) Noncompliance will have no effect 

on eligibility for benefits (as described 

in § 2590.702(b)(1) of this Part) or 

premium or contribution amounts. 

(iii) Prohibition on underwriting. No 

genetic information collected or 

acquired under this paragraph (c)(5) can 

be used for underwriting purposes (as 

described in paragraph (d)(1) of this 

section). 

(iv) Notice to Federal agencies. The 

plan or issuer completes a copy of the 

‘‘Notice of Research Exception under 

the Genetic Information 

Nondiscrimination Act’’ authorized by 

the Secretary and provides the notice to 

the address specified in the instructions 

thereto. 

(d) Prohibitions on collection of 

genetic information—(1) For 

underwriting purposes—(i) General rule. 

A group health plan, and a health 

insurance issuer offering health 

insurance coverage in connection with a 

group health plan, must not collect (as 

defined in paragraph (a)(1) of this 

section) genetic information for 

underwriting purposes. See paragraph 

(e) of this section for examples 

illustrating the rules of this paragraph 

(d)(1), as well as other provisions of this 

section. 

(ii) Underwriting purposes defined. 

Subject to paragraph (d)(1)(iii) of this 

section, underwriting purposes means, 

with respect to any group health plan, 

or health insurance coverage offered in 

connection with a group health plan— 

(A) Rules for, or determination of, 

eligibility (including enrollment and 

continued eligibility) for benefits under 

the plan or coverage as described in 

§ 2590.702(b)(1)(ii) of this Part 

(including changes in deductibles or 

other cost-sharing mechanisms in return 

for activities such as completing a 

health risk assessment or participating 

in a wellness program); 

(B) The computation of premium or 

contribution amounts under the plan or 

coverage (including discounts, rebates, 

payments in kind, or other premium 

differential mechanisms in return for 

activities such as completing a health 

risk assessment or participating in a 

wellness program); 


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(C) The application of any preexisting 

condition exclusion under the plan or 

coverage; and 

(D) Other activities related to the 

creation, renewal, or replacement of a 

contract of health insurance or health 

benefits. 

(iii) Medical appropriateness. If an 

individual seeks a benefit under a group 

health plan or health insurance 

coverage, the plan or coverage may limit 

or exclude the benefit based on whether 

the benefit is medically appropriate, and 

the determination of whether the benefit 

is medically appropriate is not within 

the meaning of underwriting purposes. 

Accordingly, if an individual seeks a 

benefit under the plan and the plan or 

issuer conditions the benefit based on 

its medical appropriateness and the 

medical appropriateness of the benefit 

depends on genetic information of the 

individual, then the plan or issuer is 

permitted to condition the benefit on 

the genetic information. A plan or issuer 

is permitted to request only the 

minimum amount of genetic 

information necessary to determine 

medical appropriateness. The plan or 

issuer may deny the benefit if the 

patient does not provide the genetic 

information required to determine 

medical appropriateness. If an 

individual is not seeking a benefit, the 

medical appropriateness exception of 

this paragraph (d)(1)(iii) to the 

definition of underwriting purposes 

does not apply. See paragraph (e) of this 

section for examples illustrating the 

medical appropriateness provisions of 

this paragraph (d)(1)(iii), as well as 

other provisions of this section. 

(2) Prior to or in connection with 

enrollment. (i) In general. A group 

health plan, and a health insurance 

issuer offering health insurance 

coverage in connection with a group 

health plan, must not collect genetic 

information with respect to any 

individual prior to that individual’s 

effective date of coverage under that 

plan or coverage, nor in connection with 

the rules for eligibility (as defined in 

§ 2590.702(b)(1)(ii) of this Part) that 

apply to that individual. Whether or not 

an individual’s information is collected 

prior to that individual’s effective date 

of coverage is determined at the time of 

collection. 

(ii) Incidental collection exception.— 

(A) In general. If a group health plan, or 

a health insurance issuer offering health 

insurance coverage in connection with a 

group health plan, obtains genetic 

information incidental to the collection 

of other information concerning any 

individual, the collection is not a 

violation of this paragraph (d)(2), as 

long as the collection is not for 

underwriting purposes in violation of 

paragraph (d)(1) of this section. 

(B) Limitation. The incidental 

collection exception of this paragraph 

(d)(2)(ii) does not apply in connection 

with any collection where it is 

reasonable to anticipate that health 

information will be received, unless the 

collection explicitly states that genetic 

information should not be provided. 

(3) Examples. The rules of this 

paragraph (d) are illustrated by the 

following examples: 

Example 1. (i) Facts. A group health plan 

provides a premium reduction to enrollees 

who complete a health risk assessment. The 

health risk assessment is requested to be 

completed after enrollment. Whether or not 

it is completed or what responses are given 

on it has no effect on an individual’s 

enrollment status, or on the enrollment status 

of members of the individual’s family. The 

health risk assessment includes questions 

about the individual’s family medical 

history. 

(ii) Conclusion. In this Example 1, the 

health risk assessment includes a request for 

genetic information (that is, the individual’s 

family medical history). Because completing 

the health risk assessment results in a 

premium reduction, the request for genetic 

information is for underwriting purposes. 

Consequently, the request violates the 

prohibition on the collection of genetic 

information in paragraph (d)(1) of this 

section. 

Example 2. (i) Facts. The same facts as 

Example 1, except there is no premium 

reduction or any other reward for completing 

the health risk assessment. 

(ii) Conclusion. In this Example 2, the 

request is not for underwriting purposes, nor 

is it prior to or in connection with 

enrollment. Therefore, it does not violate the 

prohibition on the collection of genetic 

information in this paragraph (d). 

Example 3. (i) Facts. A group health plan 

requests that enrollees complete a health risk 

assessment prior to enrollment, and includes 

questions about the individual’s family 

medical history. There is no reward or 

penalty for completing the health risk 

assessment. 

(ii) Conclusion. In this Example 3, because 

the health risk assessment includes a request 

for genetic information (that is, the 

individual’s family medical history), and 

requests the information prior to enrollment, 

the request violates the prohibition on the 

collection of genetic information in 

paragraph (d)(2) of this section. Moreover, 

because it is a request for genetic 

information, it is not an incidental collection 

under paragraph (d)(2)(ii) of this section. 

Example 4. (i) Facts. The facts are the 

same as in Example 1, except there is no 

premium reduction or any other reward 

given for completion of the health risk 

assessment. However, certain people 

completing the health risk assessment may 

become eligible for additional benefits under 

the plan by being enrolled in a disease 

management program based on their answers 

to questions about family medical history. 

Other people may become eligible for the 

disease management program based solely on 

their answers to questions about their 

individual medical history. 

(ii) Conclusion. In this Example 4, the 

request for information about an individual’s 

family medical history could result in the 

individual being eligible for benefits for 

which the individual would not otherwise be 

eligible. Therefore, the questions about 

family medical history on the health risk 

assessment are a request for genetic 

information for underwriting purposes and 

are prohibited under this paragraph (d). 

Although the plan conditions eligibility for 

the disease management program based on 

determinations of medical appropriateness, 

the exception for determinations of medical 

appropriateness does not apply because the 

individual is not seeking benefits. 

Example 5. (i) Facts. A group health plan 

requests enrollees to complete two distinct 

health risk assessments (HRAs) after and 

unrelated to enrollment. The first HRA 

instructs the individual to answer only for 

the individual and not for the individual’s 

family. The first HRA does not ask about any 

genetic tests the individual has undergone or 

any genetic services the individual has 

received. The plan offers a reward for 

completing the first HRA. The second HRA 

asks about family medical history and the 

results of genetic tests the individual has 

undergone. The plan offers no reward for 

completing the second HRA and the 

instructions make clear that completion of 

the second HRA is wholly voluntary and will 

not affect the reward given for completion of 

the first HRA. 

(ii) Conclusion. In this Example 5, no 

genetic information is collected in 

connection with the first HRA, which offers 

a reward, and no benefits or other rewards 

are conditioned on the request for genetic 

information in the second HRA. 

Consequently, the request for genetic 

information in the second HRA is not for 

underwriting purposes, and the two HRAs do 

not violate the prohibition on the collection 

of genetic information in this paragraph (d). 

Example 6. (i) Facts. A group health plan 

waives its annual deductible for enrollees 

who complete an HRA. The HRA is requested 

to be completed after enrollment. Whether or 

not the HRA is completed or what responses 

are given on it has no effect on an 

individual’s enrollment status, or on the 

enrollment status of members of the 

individual’s family. The HRA does not 

include any direct questions about the 

individual’s genetic information (including 

family medical history). However, the last 

question reads, ‘‘Is there anything else 

relevant to your health that you would like 

us to know or discuss with you?’’ 

(ii) Conclusion. In this Example 6, the 

plan’s request for medical information does 

not explicitly state that genetic information 

should not be provided. Therefore, any 

genetic information collected in response to 

the question is not within the incidental 

collection exception and is prohibited under 

this paragraph (d). 

Example 7. (i) Facts. Same facts as 

Example 6, except that the last question goes 

on to state, ‘‘In answering this question, you 


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should not include any genetic information. 

That is, please do not include any family 

medical history or any information related to 

genetic testing, genetic services, genetic 

counseling, or genetic diseases for which you 

believe you may be at risk.’’ 

(ii) Conclusion. In this Example 7, the 

plan’s request for medical information 

explicitly states that genetic information 

should not be provided. Therefore, any 

genetic information collected in response to 

the question is within the incidental 

collection exception. However, the plan may 

not use any genetic information it obtains 

incidentally for underwriting purposes. 

Example 8. (i) Facts. Issuer M acquires 

Issuer N. M requests N’s records, stating that 

N should not provide genetic information 

and should review the records to excise any 

genetic information. N assembles the data 

requested by M and, although N reviews it to 

delete genetic information, the data from a 

specific region included some individuals’ 

family medical history. Consequently, M 

receives genetic information about some of 

N’s covered individuals. 

(ii) Conclusion. In this Example 8, M’s 

request for health information explicitly 

stated that genetic information should not be 

provided. Therefore, the collection of genetic 

information was within the incidental 

collection exception. However, M may not 

use the genetic information it obtained 

incidentally for underwriting purposes. 

(e) Examples regarding 

determinations of medical 

appropriateness. The application of the 

rules of paragraphs (c) and (d) of this 

section to plan or issuer determinations 

of medical appropriateness is illustrated 

by the following examples: 

Example 1. (i) Facts. Individual A’s group 

health plan covers genetic testing for celiac 

disease for individuals who have family 

members with this condition. After A’s son 

is diagnosed with celiac disease, A undergoes 

a genetic test and promptly submits a claim 

for the test to A’s issuer for reimbursement. 

The issuer asks A to provide the results of the 

genetic test before the claim is paid. 

(ii) Conclusion. In this Example 1, under 

the rules of paragraph (c)(4) of this section 

the issuer is permitted to request only the 

minimum amount of information necessary 

to make a decision regarding payment. 

Because the results of the test are not 

necessary for the issuer to make a decision 

regarding the payment of A’s claim, the 

issuer’s request for the results of the genetic 

test violates paragraph (c) of this section. 

Example 2. (i) Facts. Individual B’s group 

health plan covers a yearly mammogram for 

participants and beneficiaries starting at age 

40, or at age 30 for those with increased risk 

for breast cancer, including individuals with 

BRCA1 or BRCA2 gene mutations. B is 33 

years old and has the BRCA2 mutation. B 

undergoes a mammogram and promptly 

submits a claim to B’s plan for 

reimbursement. Following an established 

policy, the plan asks B for evidence of 

increased risk of breast cancer, such as the 

results of a genetic test or a family history of 

breast cancer, before the claim for the 

mammogram is paid. This policy is applied 

uniformly to all similarly situated 

individuals and is not directed at individuals 

based on any genetic information. 

(ii) Conclusion. In this Example 2, the plan 

does not violate paragraphs (c) or (d) of this 

section. Under paragraph (c), the plan is 

permitted to request and use the results of a 

genetic test to make a determination 

regarding payment, provided the plan 

requests only the minimum amount of 

information necessary. Because the medical 

appropriateness of the mammogram depends 

on the genetic makeup of the patient, the 

minimum amount of information necessary 

includes the results of the genetic test. 

Similarly, the plan does not violate 

paragraph (d) of this section because the plan 

is permitted to request genetic information in 

making a determination regarding the 

medical appropriateness of a claim if the 

genetic information is necessary to make the 

determination (and if the genetic information 

is not used for underwriting purposes). 

Example 3. (i) Facts. Individual C was 

previously diagnosed with and treated for 

breast cancer, which is currently in 

remission. In accordance with the 

recommendation of C’s physician, C has been 

taking a regular dose of tamoxifen to help 

prevent a recurrence. C’s group health plan 

adopts a new policy requiring patients taking 

tamoxifen to undergo a genetic test to ensure 

that tamoxifen is medically appropriate for 

their genetic makeup. In accordance with, at 

the time, the latest scientific research, 

tamoxifen is not helpful in up to 7 percent 

of breast cancer patients, those with certain 

variations of the gene for making the CYP2D6 

enzyme. If a patient has a gene variant 

making tamoxifen not medically appropriate, 

the plan does not pay for the tamoxifen 

prescription. 

(ii) Conclusion. In this Example 3, the plan 

does not violate paragraph (c) of this section 

if it conditions future payments for the 

tamoxifen prescription on C’s undergoing a 

genetic test to determine what genetic 

markers C has for making the CYP2D6 

enzyme. Nor does the plan violate paragraph 

(c) of this section if the plan refuses future 

payment if the results of the genetic test 

indicate that tamoxifen is not medically 

appropriate for C. 

Example 4. (i) Facts. A group health plan 

offers a diabetes disease management 

program to all similarly situated individuals 

for whom it is medically appropriate based 

on whether the individuals have or are at risk 

for diabetes. The program provides enhanced 

benefits related only to diabetes for 

individuals who qualify for the program. The 

plan sends out a notice to all participants 

that describes the diabetes disease 

management program and explains the terms 

for eligibility. Individuals interested in 

enrolling in the program are advised to 

contact the plan to demonstrate that they 

have diabetes or that they are at risk for 

diabetes. For individuals who do not 

currently have diabetes, genetic information 

may be used to demonstrate that an 

individual is at risk. 

(ii) Conclusion. In this Example 4, the plan 

may condition benefits under the disease 

management program upon a showing by an 

individual that the individual is at risk for 

diabetes, even if such showing may involve 

genetic information, provided that the plan 

requests genetic information only when 

necessary to make a determination regarding 

whether the disease management program is 

medically appropriate for the individual and 

only requests the minimum amount of 

information necessary to make that 

determination. 

Example 5. (i) Facts. Same facts as 

Example 4, except that the plan includes a 

questionnaire that asks about the occurrence 

of diabetes in members of the individual’s 

family as part of the notice describing the 

disease management program. 

(ii) Conclusion. In this Example 5, the plan 

violates the requirements of paragraph (d)(1) 

of this section because the requests for 

genetic information are not limited to those 

situations in which it is necessary to make 

a determination regarding whether the 

disease management program is medically 

appropriate for the individuals. 

Example 6. (i) Facts. Same facts as 

Example 4, except the disease management 

program provides an enhanced benefit in the 

form of a lower annual deductible to 

individuals under the program; the lower 

deductible applies with respect to all medical 

expenses incurred by the individual. Thus, 

whether or not a claim relates to diabetes, the 

individual is provided with a lower 

deductible based on the individual providing 

the plan with genetic information. 

(ii) Conclusion. In this Example 6, because 

the enhanced benefits include benefits not 

related to the determination of medical 

appropriateness, making available the 

enhanced benefits is within the meaning of 

underwriting purposes. Accordingly, the 

plan may not request or require genetic 

information (including family history 

information) in determining eligibility for 

enhanced benefits under the program 

because such a request would be for 

underwriting purposes and would violate 

paragraph (d)(1) of this section. 

(f) Applicability date. This section 

applies for plan years beginning on or 

after December 7, 2009. 

■ 6. Section 2590.732 is amended to 

revise paragraph (b) as follows: 

§ 2590.732 Special rules relating to group 

health plans. 

* * * * * 

(b) General exception for certain small 

group health plans—(1) Subject to 

paragraph (b)(2) of this section, the 

requirements of this part do not apply 

to any group health plan (and group 

health insurance coverage) for any plan 

year, if on the first day of the plan year, 

the plan has fewer than two participants 

who are current employees. 

(2) The following requirements apply 

without regard to paragraph (b)(1) of 

this section: 

(i) Section 2590.701–3(b)(6) of this 

Part. 

(ii) Section 2590.702(b) of this Part, as 

such section applies with respect to 

genetic information as a health factor. 


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(iii) Section 2590.702(c) of this Part, 

as such section applies with respect to 

genetic information as a health factor. 

(iv) Section 2590.702(e) of this Part, as 

such section applies with respect to 

genetic information as a health factor. 

(v) Section 2590.702–1(b) of this Part. 

(vi) Section 2590.702–1(c) of this Part. 

(vii) Section 2590.702–1(d) of this 

Part. 

(viii) Section 2590.702–1(e) of this 

Part. 

(ix) Section 2590.711 of this Part. 

* * * * * 

Signed at Washington, DC, this 21st day of 

August 2009. 

Phyllis C. Borzi, 

Assistant Secretary, Employee Benefits 

Security Administration, U.S. Department of 

Labor. 

Department of Health and Human 

Services 

45 CFR Subtitle A 

■ For the reasons set forth in the 

preamble, the Department of Health and 

Human Services is amending 45 CFR 

Subtitle A, Subchapter B as set forth 

below: 

PART 144—REQUIREMENTS 

RELATING TO HEALTH INSURANCE 

COVERAGE 

■ 1. The authority citation for part 144 

is revised to read as follows: 

Authority: Secs. 2701 through 2763, 2791, 

and 2792 of the Public Health Service Act, 

42 U.S.C. 300gg through 300gg–63, 300gg–91, 

and 300gg–92. 

§ 144.101 Basis and purpose. 

■ 2. Section 144.101 is amended by 

revising paragraph (a) to read as follows: 

(a) Part 146 of this subchapter 

implements sections 2701 through 2723, 

2791 and 2792 of the Public Health 

Service Act (PHS Act, 42 U.S.C. 300gg 

through 42 U.S.C. 300gg–23, 300gg–91, 

and 300gg–92.). 

* * * * * 

■ 3. Section 144.103 is amended by 

revising the definition of ‘‘genetic 

information’’ to read as follows: 

§ 144.103 Definitions. 

* * * * * 

Genetic information has the meaning 

specified in § 146.122(a) of this 

subchapter. 

* * * * * 

PART 146—REQUIREMENTS FOR THE 

GROUP HEALTH INSURANCE 

MARKET 

■ 4. The authority citation for part 146 

is revised to read as follows: 

Authority: Secs. 2702 through 2705, 2711 

through 2723, 2791, and 2792 of the PHS Act 

(42 U.S.C. 300gg–1 through 300gg–5, 300gg– 

11 through 300gg–23, 300gg–91, and 300gg– 

92). 

■ 5. Section 146.101 is amended by— 

■ A. Revising the first sentence of 

paragraph (a). 

■ B. Adding a new paragraph (b)(1)(vii). 

The revision and addition read as 

follows: 

§ 146.101 Basis and scope. 

(a) * * *. This part implements 

sections 2701 through 2723, 2791, and 

2792 of the PHS Act. * * * 

(b) * * * 

(1) * * * 

(vii) Additional requirements 

prohibiting discrimination against 

participants and beneficiaries based on 

genetic information. 

* * * * * 

■ 6. Section 146.121 is amended by— 

■ A. Revising paragraph (a)(1)(vii). 

■ B. Revising paragraph (c)(2)(i). 

■ C. Republishing paragraph (c)(2)(iii) 

(Example 1) (i). 

■ D. Revising paragraph (c)(2)(iii) 

(Example 1) (ii). 

The revisions and republication read 

as follows: 

§ 146.121 Prohibiting discrimination 

against participants and beneficiaries 

based on a health factor. 

(a) * * * 

(1) * * * 

(vi) Genetic information, as defined in 

§ 146.122(a) of this subchapter; 

* * * * * 

(c) * * * 

(2) * * * 

(i) Group rating based on health 

factors not restricted under this section. 

Nothing in this section restricts the 

aggregate amount that an employer may 

be charged for coverage under a group 

health plan. But see § 146.122(b) of this 

part, which prohibits adjustments in 

group premium or contribution rates 

based on genetic information. 

* * * * * 

(iii) * * * 

Example 1. (i) Facts. An employer 

sponsors a group health plan and purchases 

coverage from a health insurance issuer. In 

order to determine the premium rate for the 

upcoming plan year, the issuer reviews the 

claims experience of individuals covered 

under the plan. The issuer finds that 

Individual F had significantly higher claims 

experience than similarly situated 

individuals in the plan. The issuer quotes the 

plan a higher per-participant rate because of 

F’s claims experience. 

(ii) Conclusion. In this Example 1, the 

issuer does not violate the provisions of this 

paragraph (c)(2) because the issuer blends the 

rate so that the employer is not quoted a 

higher rate for F than for a similarly situated 

individual based on F’s claims experience. 

(However, if the issuer used genetic 

information in computing the group rate, it 

would violate § 146.122(b) of this part.) 

* * * * * 

■ 7. Add a new § 146.122 to read as 

follows: 

§ 146.122 Additional requirements 

prohibiting discrimination based on genetic 

information. 

(a) Definitions. Unless otherwise 

provided, the definitions in this 

paragraph (a) govern in applying the 

provisions of this section. 

(1) Collect means, with respect to 

information, to request, require, or 

purchase such information. 

(2) Family member means, with 

respect to an individual— 

(i) A dependent (as defined in 

§ 144.103 of this part) of the individual; 

or 

(ii) Any other person who is a firstdegree, second-degree, third-degree, or 

fourth-degree relative of the individual 

or of a dependent of the individual. 

Relatives by affinity (such as by 

marriage or adoption) are treated the 

same as relatives by consanguinity (that 

is, relatives who share a common 

biological ancestor). In determining the 

degree of the relationship, relatives by 

less than full consanguinity (such as 

half-siblings, who share only one 

parent) are treated the same as relatives 

by full consanguinity (such as siblings 

who share both parents). 

(A) First-degree relatives include 

parents, spouses, siblings, and children. 

(B) Second-degree relatives include 

grandparents, grandchildren, aunts, 

uncles, nephews, and nieces. 

(C) Third-degree relatives include 

great-grandparents, great-grandchildren, 

great aunts, great uncles, and first 

cousins. 

(D) Fourth-degree relatives include 

great-great grandparents, great-great 

grandchildren, and children of first 

cousins. 

(3) Genetic information means— 

(i) Subject to paragraphs (a)(3)(ii) and 

(iii) of this section, with respect to an 

individual, information about— 

(A) The individual’s genetic tests (as 

defined in paragraph (a)(5) of this 

section); 

(B) The genetic tests of family 

members of the individual; 

(C) The manifestation (as defined in 

paragraph (a)(6) of this section) of a 

disease or disorder in family members 

of the individual; or 

(D) Any request for, or receipt of, 

genetic services (as defined in paragraph 

(a)(4) of this section), or participation in 

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services, by the individual or any family 

member of the individual. 

(ii) The term genetic information does 

not include information about the sex or 

age of any individual. 

(iii) The term genetic information 

includes— 

(A) With respect to a pregnant woman 

(or a family member of the pregnant 

woman), genetic information of any 

fetus carried by the pregnant woman; 

and 

(B) With respect to an individual (or 

a family member of the individual) who 

is utilizing an assisted reproductive 

technology, genetic information of any 

embryo legally held by the individual or 

family member. 

(4) Genetic services means — 

(i) A genetic test, as defined in 

paragraph (a)(5) of this section; 

(ii) Genetic counseling (including 

obtaining, interpreting, or assessing 

genetic information); or 

(iii) Genetic education. 

(5)(i) Genetic test means an analysis of 

human DNA, RNA, chromosomes, 

proteins, or metabolites, if the analysis 

detects genotypes, mutations, or 

chromosomal changes. However, a 

genetic test does not include an analysis 

of proteins or metabolites that is directly 

related to a manifested disease, 

disorder, or pathological condition. 

Accordingly, a test to determine 

whether an individual has a BRCA1 or 

BRCA2 variant is a genetic test. 

Similarly, a test to determine whether 

an individual has a genetic variant 

associated with hereditary nonpolyposis 

colorectal cancer is a genetic test. 

However, an HIV test, complete blood 

count, cholesterol test, liver function 

test, or test for the presence of alcohol 

or drugs is not a genetic test. 

(ii) The rules of this paragraph (a)(5) 

are illustrated by the following example: 

Example. (i) Facts. Individual A is a 

newborn covered under a group health plan. 

A undergoes a phenylketonuria (PKU) 

screening, which measures the concentration 

of a metabolite, phenylalanine, in A’s blood. 

In PKU, a mutation occurs in the 

phenylalanine hydroxylase (PAH) gene 

which contains instructions for making the 

enzyme needed to break down the amino 

acid phenylalanine. Individuals with the 

mutation, who have a deficiency in the 

enzyme to break down phenylalanine, have 

high concentrations of phenylalanine. 

(ii) Conclusion. In this Example, the PKU 

screening is a genetic test with respect to A 

because the screening is an analysis of 

metabolites that detects a genetic mutation. 

(6)(i) Manifestation or manifested 

means, with respect to a disease, 

disorder, or pathological condition, that 

an individual has been or could 

reasonably be diagnosed with the 

disease, disorder, or pathological 

condition by a health care professional 

with appropriate training and expertise 

in the field of medicine involved. For 

purposes of this section, a disease, 

disorder, or pathological condition is 

not manifested if a diagnosis is based 

principally on genetic information. 

(ii) The rules of this paragraph (a)(6) 

are illustrated by the following 

examples: 

Example 1. (i) Facts. Individual A has a 

family medical history of diabetes. A begins 

to experience excessive sweating, thirst, and 

fatigue. A’s physician examines A and orders 

blood glucose testing (which is not a genetic 

test). Based on the physician’s examination, 

A’s symptoms, and test results that show 

elevated levels of blood glucose, A’s 

physician diagnoses A as having adult onset 

diabetes mellitus (Type 2 diabetes). 

(ii) Conclusion. In this Example 1, A has 

been diagnosed by a health care professional 

with appropriate training and expertise in the 

field of medicine involved. The diagnosis is 

not based principally on genetic information. 

Thus, Type 2 diabetes is manifested with 

respect to A. 

Example 2. (i) Facts. Individual B has 

several family members with colon cancer. 

One of them underwent genetic testing which 

detected a mutation in the MSH2 gene 

associated with hereditary nonpolyposis 

colorectal cancer (HNPCC). B’s physician, a 

health care professional with appropriate 

training and expertise in the field of 

medicine involved, recommends that B 

undergo a targeted genetic test to look for the 

specific mutation found in B ’s relative to 

determine if B has an elevated risk for cancer. 

The genetic test with respect to B showed 

that B also carries the mutation and is at 

increased risk to develop colorectal and other 

cancers associated with HNPCC. B has a 

colonoscopy which indicates no signs of 

disease, and B has no symptoms. 

(ii) Conclusion. In this Example 2, because 

B has no signs or symptoms of colorectal 

cancer, B has not been and could not 

reasonably be diagnosed with HNPCC. Thus, 

HNPCC is not manifested with respect to B. 

Example 3. (i) Facts. Same facts as 

Example 2, except that B’s colonoscopy and 

subsequent tests indicate the presence of 

HNPCC. Based on the colonoscopy and 

subsequent test results, B’s physician makes 

a diagnosis of HNPCC. 

(ii) Conclusion. In this Example 3, HNPCC 

is manifested with respect to B because a 

health care professional with appropriate 

training and expertise in the field of 

medicine involved has made a diagnosis that 

is not based principally on genetic 

information. 

Example 4. (i) Facts. Individual C has a 

family member that has been diagnosed with 

Huntington’s Disease. A genetic test indicates 

that C has the Huntington’s Disease gene 

variant. At age 42, C begins suffering from 

occasional moodiness and disorientation, 

symptoms which are associated with 

Huntington’s Disease. C is examined by a 

neurologist (a physician with appropriate 

training and expertise for diagnosing 

Huntington’s Disease). The examination 

includes a clinical neurological exam. The 

results of the examination do not support a 

diagnosis of Huntington’s Disease. 

(ii) Conclusion. In this Example 4, C is not 

and could not reasonably be diagnosed with 

Huntington’s Disease by a health care 

professional with appropriate training and 

expertise. Therefore, Huntington’s Disease is 

not manifested with respect to C. 

Example 5. (i) Facts. Same facts as 

Example 4, except that C exhibits additional 

neurological and behavioral symptoms, and 

the results of the examination support a 

diagnosis of Huntington’s Disease with 

respect to C. 

(ii) Conclusion. In this Example 5, C could 

reasonably be diagnosed with Huntington’s 

Disease by a health care professional with 

appropriate training and expertise. Therefore, 

Huntington’s Disease is manifested with 

respect to C. 

(7) Underwriting purposes has the 

meaning given in paragraph (d)(1) of 

this section. 

(b) No group-based discrimination 

based on genetic information—(1) In 

general. For purposes of this section, a 

group health plan, and a health 

insurance issuer offering health 

insurance coverage in connection with a 

group health plan, must not adjust 

premium or contribution amounts for 

the plan, or any group of similarly 

situated individuals under the plan, on 

the basis of genetic information. For this 

purpose, ‘‘similarly situated 

individuals’’ are those described in 

§ 146.121(d) of this part. 

(2) Rule of construction. Nothing in 

paragraph (b)(1) of this section (or in 

paragraph (d)(1) or (d)(2) of this section) 

limits the ability of a health insurance 

issuer offering health insurance 

coverage in connection with a group 

health plan to increase the premium for 

a group health plan or a group of 

similarly situated individuals under the 

plan based on the manifestation of a 

disease or disorder of an individual who 

is enrolled in the plan. In such a case, 

however, the manifestation of a disease 

or disorder in one individual cannot 

also be used as genetic information 

about other group members to further 

increase the premium for a group health 

plan or a group of similarly situated 

individuals under the plan. 

(3) Examples. The rules of this 

paragraph (b) are illustrated by the 

following examples: 

Example 1. (i) Facts. An employer 

sponsors a group health plan that provides 

coverage through a health insurance issuer. 

In order to determine the premium rate for 

the upcoming plan year, the issuer reviews 

the claims experience of individuals covered 

under the plan and other health status 

information of the individuals, including 

genetic information. The issuer finds that 

three individuals covered under the plan had 

unusually high claims experience. In 

addition, the issuer finds that the genetic 


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information of two other individuals 

indicates the individuals have a higher 

probability of developing certain illnesses 

although the illnesses are not manifested at 

this time. The issuer quotes the plan a higher 

per-participant rate because of both the 

genetic information and the higher claims 

experience. 

(ii) Conclusion. In this Example 1, the 

issuer violates the provisions of this 

paragraph (b) because the issuer adjusts the 

premium based on genetic information. 

However, if the adjustment related solely to 

claims experience, the adjustment would not 

violate the requirements of this section (nor 

would it violate the requirements of 

paragraph (c) of § 146.121 of this part, which 

prohibits discrimination in individual 

premiums or contributions based on a health 

factor but permits increases in the group rate 

based on a health factor). 

Example 2. (i) Facts. An employer 

sponsors a group health plan that provides 

coverage through a health insurance issuer. 

In order to determine the premium rate for 

the upcoming plan year, the issuer reviews 

the claims experience of individuals covered 

under the plan and other health status 

information of the individuals, including 

genetic information. The issuer finds that 

Employee A has made claims for treatment 

of polycystic kidney disease. A also has two 

dependent children covered under the plan. 

The issuer quotes the plan a higher perparticipant rate because of both A’s claims 

experience and the family medical history of 

A’s children (that is, the fact that A has the 

disease). 

(ii) Conclusion. In this Example 2, the 

issuer violates the provisions of this 

paragraph (b) because, by taking the 

likelihood that A’s children may develop 

polycystic kidney disease into account in 

computing the rate for the plan, the issuer 

adjusts the premium based on genetic 

information relating to a condition that has 

not been manifested in A’s children. 

However, it is permissible for the issuer to 

increase the premium based on A’s claims 

experience. 

(c) Limitation on requesting or 

requiring genetic testing—(1) General 

rule. Except as otherwise provided in 

this paragraph (c), a group health plan, 

and a health insurance issuer offering 

health insurance coverage in connection 

with a group health plan, must not 

request or require an individual or a 

family member of the individual to 

undergo a genetic test. 

(2) Health care professional may 

recommend a genetic test. Nothing in 

paragraph (c)(1) of this section limits the 

authority of a health care professional 

who is providing health care services to 

an individual to request that the 

individual undergo a genetic test. 

(3) Examples. The rules of paragraphs 

(c)(1) and (2) of this section are 

illustrated by the following examples: 

Example 1. (i) Facts. Individual A goes to 

a physician for a routine physical 

examination. The physician reviews A’s 

family medical history and A informs the 

physician that A’s mother has been 

diagnosed with Huntington’s Disease. The 

physician advises A that Huntington’s 

Disease is hereditary and recommends that A 

undergo a genetic test. 

(ii) Conclusion. In this Example 1, the 

physician is a health care professional who 

is providing health care services to A. 

Therefore, the physician’s recommendation 

that A undergo the genetic test does not 

violate this paragraph (c). 

Example 2. (i) Facts. Individual B is 

covered by a health maintenance 

organization (HMO). B is a child being 

treated for leukemia. B’s physician, who is 

employed by the HMO, is considering a 

treatment plan that includes sixmercaptopurine, a drug for treating leukemia 

in most children. However, the drug could be 

fatal if taken by a small percentage of 

children with a particular gene variant. B’s 

physician recommends that B undergo a 

genetic test to detect this variant before 

proceeding with this course of treatment. 

(ii) Conclusion. In this Example 2, even 

though the physician is employed by the 

HMO, the physician is nonetheless a health 

care professional who is providing health 

care services to B. Therefore, the physician’s 

recommendation that B undergo the genetic 

test does not violate this paragraph (c). 

(4) Determination regarding payment. 

(i) In general. As provided in this 

paragraph (c)(4), nothing in paragraph 

(c)(1) of this section precludes a plan or 

issuer from obtaining and using the 

results of a genetic test in making a 

determination regarding payment. For 

this purpose, ‘‘payment’’ has the 

meaning given such term in § 164.501 of 

the privacy regulations issued under the 

Health Insurance Portability and 

Accountability Act. Thus, if a plan or 

issuer conditions payment for an item or 

service based on its medical 

appropriateness and the medical 

appropriateness of the item or service 

depends on the genetic makeup of a 

patient, then the plan or issuer is 

permitted to condition payment for the 

item or service on the outcome of a 

genetic test. The plan or issuer may also 

refuse payment if the patient does not 

undergo the genetic test. 

(ii) Limitation. A plan or issuer is 

permitted to request only the minimum 

amount of information necessary to 

make a determination regarding 

payment. The minimum amount of 

information necessary is determined in 

accordance with the minimum 

necessary standard in § 164.502(b) of the 

privacy regulations issued under the 

Health Insurance Portability and 

Accountability Act. 

(iii) Examples. See paragraph (e) of 

this section for examples illustrating the 

rules of this paragraph (c)(4), as well as 

other provisions of this section. 

(5) Research exception. 

Notwithstanding paragraph (c)(1) of this 

section, a plan or issuer may request, 

but not require, that a participant or 

beneficiary undergo a genetic test if all 

of the conditions of this paragraph (c)(5) 

are met: 

(i) Research in accordance with 

Federal regulations and applicable State 

or local law or regulations. The plan or 

issuer makes the request pursuant to 

research, as defined in § 46.102(d) of 

this subtitle, that complies with part 46 

of this subtitle or equivalent Federal 

regulations, and any applicable State or 

local law or regulations for the 

protection of human subjects in 

research. 

(ii) Written request for participation in 

research. The plan or issuer makes the 

request in writing, and the request 

clearly indicates to each participant or 

beneficiary (or, in the case of a minor 

child, to the legal guardian of the 

beneficiary) that – 

(A) Compliance with the request is 

voluntary; and 

(B) Noncompliance will have no effect 

on eligibility for benefits (as described 

in § 146.121(b)(1) of this part) or 

premium or contribution amounts. 

(iii) Prohibition on underwriting. No 

genetic information collected or 

acquired under this paragraph (c)(5) can 

be used for underwriting purposes (as 

described in paragraph (d)(1) of this 

section). 

(iv) Notice to Federal agencies. The 

plan or issuer completes a copy of the 

‘‘Notice of Research Exception under 

the Genetic Information 

Nondiscrimination Act’’ authorized by 

the Secretary and provides the notice to 

the address specified in the instructions 

thereto. 

(d) Prohibitions on collection of 

genetic information. 

(1) For underwriting purposes. 

(i) General rule. A group health plan, 

and a health insurance issuer offering 

health insurance coverage in connection 

with a group health plan, must not 

collect (as defined in paragraph (a)(1) of 

this section) genetic information for 

underwriting purposes. See paragraph 

(e) of this section for examples 

illustrating the rules of this paragraph 

(d)(1), as well as other provisions of this 

section. 

(ii) Underwriting purposes defined. 

Subject to paragraph (d)(1)(iii) of this 

section, underwriting purposes means, 

with respect to any group health plan, 

or health insurance coverage offered in 

connection with a group health plan— 

(A) Rules for, or determination of, 

eligibility (including enrollment and 

continued eligibility) for benefits under 

the plan or coverage as described in 

§ 146.121(b)(1)(ii) of this part (including 

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sharing mechanisms in return for 

activities such as completing a health 

risk assessment or participating in a 

wellness program); 

(B) The computation of premium or 

contribution amounts under the plan or 

coverage (including discounts, rebates, 

payments in kind, or other premium 

differential mechanisms in return for 

activities such as completing a health 

risk assessment or participating in a 

wellness program); 

(C) The application of any preexisting 

condition exclusion under the plan or 

coverage; and 

(D) Other activities related to the 

creation, renewal, or replacement of a 

contract of health insurance or health 

benefits. 

(iii) Medical appropriateness. If an 

individual seeks a benefit under a group 

health plan or health insurance 

coverage, the plan or coverage may limit 

or exclude the benefit based on whether 

the benefit is medically appropriate, and 

the determination of whether the benefit 

is medically appropriate is not within 

the meaning of underwriting purposes. 

Accordingly, if an individual seeks a 

benefit under the plan and the plan or 

issuer conditions the benefit based on 

its medical appropriateness and the 

medical appropriateness of the benefit 

depends on genetic information of the 

individual, then the plan or issuer is 

permitted to condition the benefit on 

the genetic information. A plan or issuer 

is permitted to request only the 

minimum amount of genetic 

information necessary to determine 

medical appropriateness. The plan or 

issuer may deny the benefit if the 

patient does not provide the genetic 

information required to determine 

medical appropriateness. If an 

individual is not seeking a benefit, the 

medical appropriateness exception of 

this paragraph (d)(1)(iii) to the 

definition of underwriting purposes 

does not apply. See paragraph (e) of this 

section for examples illustrating the 

medical appropriateness provisions of 

this paragraph (d)(1)(iii), as well as 

other provisions of this section. 

(2) Prior to or in connection with 

enrollment. (i) In general. A group 

health plan, and a health insurance 

issuer offering health insurance 

coverage in connection with a group 

health plan, must not collect genetic 

information with respect to any 

individual prior to that individual’s 

effective date of coverage under that 

plan or coverage, nor in connection with 

the rules for eligibility (as defined in 

§ 146.121(b)(1)(ii) of this part) that apply 

to that individual. Whether or not an 

individual’s information is collected 

prior to that individual’s effective date 

of coverage is determined at the time of 

collection. 

(ii) Incidental collection exception. 

(A) In general. If a group health plan, 

or a health insurance issuer offering 

health insurance coverage in connection 

with a group health plan, obtains 

genetic information incidental to the 

collection of other information 

concerning any individual, the 

collection is not a violation of this 

paragraph (d)(2), as long as the 

collection is not for underwriting 

purposes in violation of paragraph (d)(1) 

of this section. 

(B) Limitation. The incidental 

collection exception of this paragraph 

(d)(2)(ii) does not apply in connection 

with any collection where it is 

reasonable to anticipate that health 

information will be received, unless the 

collection explicitly states that genetic 

information should not be provided. 

(3) Examples. The rules of this 

paragraph (d) are illustrated by the 

following examples: 

Example 1. (i) Facts. A group health plan 

provides a premium reduction to enrollees 

who complete a health risk assessment. The 

health risk assessment is requested to be 

completed after enrollment. Whether or not 

it is completed or what responses are given 

on it has no effect on an individual’s 

enrollment status, or on the enrollment status 

of members of the individual’s family. The 

health risk assessment includes questions 

about the individual’s family medical 

history. 

(ii) Conclusion. In this Example 1, the 

health risk assessment includes a request for 

genetic information (that is, the individual’s 

family medical history). Because completing 

the health risk assessment results in a 

premium reduction, the request for genetic 

information is for underwriting purposes. 

Consequently, the request violates the 

prohibition on the collection of genetic 

information in paragraph (d)(1) of this 

section. 

Example 2. (i) Facts. The same facts as 

Example 1, except there is no premium 

reduction or any other reward for completing 

the health risk assessment. 

(ii) Conclusion. In this Example 2, the 

request is not for underwriting purposes, nor 

is it prior to or in connection with 

enrollment. Therefore, it does not violate the 

prohibition on the collection of genetic 

information in this paragraph (d). 

Example 3. (i) Facts. A group health plan 

requests that enrollees complete a health risk 

assessment prior to enrollment, and includes 

questions about the individual’s family 

medical history. There is no reward or 

penalty for completing the health risk 

assessment. 

(ii) Conclusion. In this Example 3, because 

the health risk assessment includes a request 

for genetic information (that is, the 

individual’s family medical history), and 

requests the information prior to enrollment, 

the request violates the prohibition on the 

collection of genetic information in 

paragraph (d)(2) of this section. Moreover, 

because it is a request for genetic 

information, it is not an incidental collection 

under paragraph (d)(2)(ii) of this section. 

Example 4. (i) Facts. The facts are the 

same as in Example 1, except there is no 

premium reduction or any other reward 

given for completion of the health risk 

assessment. However, certain people 

completing the health risk assessment may 

become eligible for additional benefits under 

the plan by being enrolled in a disease 

management program based on their answers 

to questions about family medical history. 

Other people may become eligible for the 

disease management program based solely on 

their answers to questions about their 

individual medical history. 

(ii) Conclusion. In this Example 4, the 

request for information about an individual’s 

family medical history could result in the 

individual being eligible for benefits for 

which the individual would not otherwise be 

eligible. Therefore, the questions about 

family medical history on the health risk 

assessment are a request for genetic 

information for underwriting purposes and 

are prohibited under this paragraph (d). 

Although the plan conditions eligibility for 

the disease management program based on 

determinations of medical appropriateness, 

the exception for determinations of medical 

appropriateness does not apply because the 

individual is not seeking benefits. 

Example 5. (i) Facts. A group health plan 

requests enrollees to complete two distinct 

health risk assessments (HRAs) after and 

unrelated to enrollment. The first HRA 

instructs the individual to answer only for 

the individual and not for the individual’s 

family. The first HRA does not ask about any 

genetic tests the individual has undergone or 

any genetic services the individual has 

received. The plan offers a reward for 

completing the first HRA. The second HRA 

asks about family medical history and the 

results of genetic tests the individual has 

undergone. The plan offers no reward for 

completing the second HRA and the 

instructions make clear that completion of 

the second HRA is wholly voluntary and will 

not affect the reward given for completion of 

the first HRA. 

(ii) Conclusion. In this Example 5, no 

genetic information is collected in 

connection with the first HRA, which offers 

a reward, and no benefits or other rewards 

are conditioned on the request for genetic 

information in the second HRA. 

Consequently, the request for genetic 

information in the second HRA is not for 

underwriting purposes, and the two HRAs do 

not violate the prohibition on the collection 

of genetic information in this paragraph (d). 

Example 6. (i) Facts. A group health plan 

waives its annual deductible for enrollees 

who complete an HRA. The HRA is requested 

to be completed after enrollment. Whether or 

not the HRA is completed or what responses 

are given on it has no effect on an 

individual’s enrollment status, or on the 

enrollment status of members of the 

individual’s family. The HRA does not 

include any direct questions about the 

individual’s genetic information (including 

family medical history). However, the last 


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51692 Federal Register / Vol. 74, No. 193 / Wednesday, October 7, 2009 / Rules and Regulations 

question reads, ‘‘Is there anything else 

relevant to your health that you would like 

us to know or discuss with you?’’ 

(ii) Conclusion. In this Example 6, the 

plan’s request for medical information does 

not explicitly state that genetic information 

should not be provided. Therefore, any 

genetic information collected in response to 

the question is not within the incidental 

collection exception and is prohibited under 

this paragraph (d). 

Example 7. (i) Facts. Same facts as 

Example 6, except that the last question goes 

on to state, ‘‘In answering this question, you 

should not include any genetic information. 

That is, please do not include any family 

medical history or any information related to 

genetic testing, genetic services, genetic 

counseling, or genetic diseases for which you 

believe you may be at risk.’’ 

(ii) Conclusion. In this Example 7, the 

plan’s request for medical information 

explicitly states that genetic information 

should not be provided. Therefore, any 

genetic information collected in response to 

the question is within the incidental 

collection exception. However, the plan may 

not use any genetic information it obtains 

incidentally for underwriting purposes. 

Example 8. (i) Facts. Issuer M acquires 

Issuer N. M requests N’s records, stating that 

N should not provide genetic information 

and should review the records to excise any 

genetic information. N assembles the data 

requested by M and, although N reviews it to 

delete genetic information, the data from a 

specific region included some individuals’ 

family medical history. Consequently, M 

receives genetic information about some of 

N’s covered individuals. 

(ii) Conclusion. In this Example 8, M’s 

request for health information explicitly 

stated that genetic information should not be 

provided. Therefore, the collection of genetic 

information was within the incidental 

collection exception. However, M may not 

use the genetic information it obtained 

incidentally for underwriting purposes. 

(e) Examples regarding 

determinations of medical 

appropriateness. The application of the 

rules of paragraphs (c) and (d) of this 

section to plan or issuer determinations 

of medical appropriateness is illustrated 

by the following examples: 

Example 1. (i) Facts. Individual A group 

health plan covers genetic testing for celiac 

disease for individuals who have family 

members with this condition. After A’s son 

is diagnosed with celiac disease, A undergoes 

a genetic test and promptly submits a claim 

for the test to A’s issuer for reimbursement. 

The issuer asks A to provide the results of the 

genetic test before the claim is paid. 

(ii) Conclusion. In this Example 1, under 

the rules of paragraph (c)(4) of this section 

the issuer is permitted to request only the 

minimum amount of information necessary 

to make a decision regarding payment. 

Because the results of the test are not 

necessary for the issuer to make a decision 

regarding the payment of A’s claim, the 

issuer’s request for the results of the genetic 

test violates paragraph (c) of this section. 

Example 2. (i) Facts. Individual B’s group 

health plan covers a yearly mammogram for 

participants and beneficiaries starting at age 

40, or at age 30 for those with increased risk 

for breast cancer, including individuals with 

BRCA1 or BRCA2 gene mutations. B is 33 

years old and has the BRCA2 mutation. B 

undergoes a mammogram and promptly 

submits a claim to B’s plan for 

reimbursement. Following an established 

policy, the plan asks B for evidence of 

increased risk of breast cancer, such as the 

results of a genetic test or a family history of 

breast cancer, before the claim for the 

mammogram is paid. This policy is applied 

uniformly to all similarly situated 

individuals and is not directed at individuals 

based on any genetic information. 

(ii) Conclusion. In this Example 2, the plan 

does not violate paragraphs (c) or (d) of this 

section. Under paragraph (c), the plan is 

permitted to request and use the results of a 

genetic test to make a determination 

regarding payment, provided the plan 

requests only the minimum amount of 

information necessary. Because the medical 

appropriateness of the mammogram depends 

on the genetic makeup of the patient, the 

minimum amount of information necessary 

includes the results of the genetic test. 

Similarly, the plan does not violate 

paragraph (d) of this section because the plan 

is permitted to request genetic information in 

making a determination regarding the 

medical appropriateness of a claim if the 

genetic information is necessary to make the 

determination (and if the genetic information 

is not used for underwriting purposes). 

Example 3. (i) Facts. Individual C was 

previously diagnosed with and treated for 

breast cancer, which is currently in 

remission. In accordance with the 

recommendation of C’s physician, C has been 

taking a regular dose of tamoxifen to help 

prevent a recurrence. C’s group health plan 

adopts a new policy requiring patients taking 

tamoxifen to undergo a genetic test to ensure 

that tamoxifen is medically appropriate for 

their genetic makeup. In accordance with, at 

the time, the latest scientific research, 

tamoxifen is not helpful in up to 7 percent 

of breast cancer patients, those with certain 

variations of the gene for making the CYP2D6 

enzyme. If a patient has a gene variant 

making tamoxifen not medically appropriate, 

the plan does not pay for the tamoxifen 

prescription. 

(ii) Conclusion. In this Example 3, the plan 

does not violate paragraph (c) of this section 

if it conditions future payments for the 

tamoxifen prescription on C’s undergoing a 

genetic test to determine what genetic 

markers C has for making the CYP2D6 

enzyme. Nor does the plan violate paragraph 

(c) of this section if the plan refuses future 

payment if the results of the genetic test 

indicate that tamoxifen is not medically 

appropriate for C. 

Example 4. (i) Facts. A group health plan 

offers a diabetes disease management 

program to all similarly situated individuals 

for whom it is medically appropriate based 

on whether the individuals have or are at risk 

for diabetes. The program provides enhanced 

benefits related only to diabetes for 

individuals who qualify for the program. The 

plan sends out a notice to all participants 

that describes the diabetes disease 

management program and explains the terms 

for eligibility. Individuals interested in 

enrolling in the program are advised to 

contact the plan to demonstrate that they 

have diabetes or that they are at risk for 

diabetes. For individuals who do not 

currently have diabetes, genetic information 

may be used to demonstrate that an 

individual is at risk. 

(ii) Conclusion. In this Example 4, the plan 

may condition benefits under the disease 

management program upon a showing by an 

individual that the individual is at risk for 

diabetes, even if such showing may involve 

genetic information, provided that the plan 

requests genetic information only when 

necessary to make a determination regarding 

whether the disease management program is 

medically appropriate for the individual and 

only requests the minimum amount of 

information necessary to make that 

determination. 

Example 5. (i) Facts. Same facts as 

Example 4, except that the plan includes a 

questionnaire that asks about the occurrence 

of diabetes in members of the individual’s 

family as part of the notice describing the 

disease management program. 

(ii) Conclusion. In this Example 5, the plan 

violates the requirements of paragraph (d)(1) 

of this section because the requests for 

genetic information are not limited to those 

situations in which it is necessary to make 

a determination regarding whether the 

disease management program is medically 

appropriate for the individuals. 

Example 6. (i) Facts. Same facts as 

Example 4, except the disease management 

program provides an enhanced benefit in the 

form of a lower annual deductible to 

individuals under the program; the lower 

deductible applies with respect to all medical 

expenses incurred by the individual. Thus, 

whether or not a claim relates to diabetes, the 

individual is provided with a lower 

deductible based on the individual providing 

the plan with genetic information. 

(ii) Conclusion. In this Example 6, because 

the enhanced benefits include benefits not 

related to the determination of medical 

appropriateness, making available the 

enhanced benefits is within the meaning of 

underwriting purposes. Accordingly, the 

plan may not request or require genetic 

information (including family history 

information) in determining eligibility for 

enhanced benefits under the program 

because such a request would be for 

underwriting purposes and would violate 

paragraph (d)(1) of this section. 

(f) Applicability date. This section 

applies for plan years beginning on or 

after December 7, 2009. 

■ 8. Section 146.145 is amended by 

revising paragraph (b) as follows: 

§ 146.145 Special rules relating to group 

health plans. 

* * * * * 

(b) General exception for certain small 

group health plans. The requirements of 

this part, other than § 146.130 and the 

provisions with respect to genetic 


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nondiscrimination (found in 

§ 146.111(b)(6), § 146.121(b), 

§ 146.121(c), § 146.121(e), § 146.122(b), 

§ 146.122(c), § 146.122(d), and 

§ 146.122(e)) do not apply to any group 

health plan (and group health insurance 

coverage) for any plan year, if on the 

first day of the plan year, the plan has 

fewer than two participants who are 

current employees. 

* * * * * 

■ 9. Section 146.180 is amended by— 

■ A. Revising paragraph (a)(1)(iii). 

■ B. Revising paragraph (h). 

■ C. In paragraph (i), removing the 

reference ‘‘(h)’’ and added the reference 

‘‘(h)(1)’’ in its place each time it 

appears. 

■ D. Revising the last sentence of 

paragraph (k). 

The revisions read as follows: 

§ 146.180 Treatment of non-Federal 

governmental plans. 

(a) * * * 

(1) * * * 

(iii) Prohibitions against 

discriminating against individual 

participants and beneficiaries based on 

health status described in § 146.121, 

except that the sponsor of a self-funded 

non-Federal governmental plan cannot 

elect to exempt its plan from the 

requirements in § 146.121(a)(1)(vi) and 

§ 146.122 that prohibit discrimination 

with respect to genetic information. 

* * * * * 

(h) Requirements not subject to 

exemption. 

(1) Certification and disclosure of 

creditable coverage. Without regard to 

an election under this section, a nonFederal governmental plan must 

provide for certification and disclosure 

of creditable coverage under the plan 

with respect to participants and their 

dependents as specified under § 146.115 

of this part. 

(2) Genetic information. Without 

regard to an election under this section 

that exempts a non-Federal 

governmental plan from any or all of the 

provisions of § 146.111 and § 146.121 of 

this part, the exemption election must 

not be construed to exempt the plan 

from any provisions of this part 146 that 

pertain to genetic information. 

(3) Enforcement. CMS enforces these 

requirements as provided under 

paragraph (k) of this section. 

(4) Examples. 

(i) 

Example 1. (A) Individual A is hired by 

a county that has elected to exempt its selffunded group health plan from certain 

requirements of paragraph (a)(1) of this 

section, including prohibitions against 

enrollment discrimination based on health 

status-related factors. Individual A applies 

for enrollment in the county’s group health 

plan. Applicants must pass medical 

underwriting before being allowed to enroll 

in the plan. The plan requires an applicant 

to complete a medical history form and to 

authorize the plan to contact physicians 

regarding any medical treatments the 

applicant has received in the past 5 years. 

Individual A has Type 2 diabetes. He submits 

the required form, which reflects that 

condition. The plan also receives information 

from Individual A’s physicians. While the 

plan’s request to Individual A’s physicians 

did not include a request for genetic 

information, the plan received information 

from a physician in response to its request for 

health information about Individual A, that 

one of Individual A’s parents has 

Huntington’s Disease. The Plan denies 

enrollment to Individual A. 

(B) Individual A files a complaint with 

CMS that he has been denied enrollment in 

the plan because of genetic information the 

plan received. CMS investigates the 

complaint and determines that the plan 

uniformly denies enrollment to anyone who 

has Type II diabetes. CMS resolves the 

complaint in favor of the plan on the basis 

that the plan permissibly denied enrollment 

to Individual A under its exemption election 

because of the existence of a medical 

condition that uniformly disqualifies 

individuals from participating in the plan. 

(ii) 

Example 2. (A) Same facts as in Example 

1, except Individual A does not have diabetes 

or any other preexisting medical condition; 

that is, there is no manifestation of a disease 

or disorder with respect to Individual A at 

the time of his application for enrollment in 

the county’s group health plan. 

(B) In these circumstances, CMS resolves 

the complaint in favor of Individual A 

because CMS determines that the plan 

impermissibly denied enrollment to 

Individual A on the basis of genetic 

information. CMS instructs the plan to 

permit Individual A to enroll in the plan 

retroactive to the earliest date coverage 

would be effective under the terms of the 

plan based on the date of Individual A’s 

enrollment application or hire, as applicable. 

CMS may impose a civil money penalty, as 

determined under subpart C of part 150. 

* * * * * 

(k) * * *. This may include imposing 

a civil money penalty against the plan 

or plan sponsor, as determined under 

subpart C of part 150. 

* * * * * 

PART 148—REQUIREMENTS FOR THE 

INDIVIDUAL HEALTH INSURANCE 

MARKET 

■ 10. The authority citation for part 148 

continues to read as follows: 

Authority: Secs. 2741 through 2763, 2791, 

and 2792 of the Public Health Service Act, 

42 U.S.C. 300gg–41 through 300gg–63, 

300gg–91, and 300gg–92. 

■ 11. Section 148.101 is amended by 

revising the last sentence to read as 

follows: 

§ 148.101 Basis and purpose. 

* * *. It also provides certain 

protections for mothers and newborns 

with respect to coverage for hospital 

stays in connection with childbirth and 

protects all individuals and family 

members who have, or seek, individual 

health insurance coverage from 

discrimination based on genetic 

information. 

■ 12. Section 148.102 is amended by 

revising the last sentence of paragraph 

(a)(2) and paragraph (b) to read as 

follows: 

§ 148.102 Scope, applicability, and 

effective dates. 

(a) * * * 

(2) * * *. The requirements that 

pertain to guaranteed renewability for 

all individuals, to protections for 

mothers and newborns with respect to 

hospital stays in connection with 

childbirth, and to protections against 

discrimination based on genetic 

information apply to all issuers of 

individual health insurance coverage in 

the State, regardless of whether a State 

implements an alternative mechanism 

under § 148.128 of this part. 

(b) Effective date. Except as provided 

in § 148.124 (certificate of creditable 

coverage), § 148.128 (alternative State 

mechanisms), § 148.170 (standards 

relating to benefits for mothers and 

newborns), and § 148.180 (prohibition 

of health discrimination based on 

genetic information) of this part, the 

requirements of this part apply to health 

insurance coverage offered, sold, issued, 

renewed, in effect, or operated in the 

individual market after June 30, 1997, 

regardless of when a period of creditable 

coverage occurs. 

§ 148.120 [Amended] 

■ 13. Section 148.120 is amended by— 

■ A. In paragraphs (c)(5)(ii), (d)(2), and 

(e)(2) removing the cross-reference 

‘‘§ 148.200’’ and adding in its place the 

cross-reference ‘‘part 150’’ each time it 

appears. 

■ B. In paragraph (f)(1) removing the 

term ‘‘If’’ and adding in its place the 

phrase ‘‘Except as prohibited by 

§ 148.180, if’’. 

■ C. In paragraph (g)(4) removing the 

term ‘‘This’’ and adding in its place the 

phrase ‘‘Except as prohibited by 

§ 148.180, this’’. 

■ 14. A new § 148.180 is added to 

subpart C to read as follows: 


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51694 Federal Register / Vol. 74, No. 193 / Wednesday, October 7, 2009 / Rules and Regulations 

§ 148.180 Prohibition of discrimination 

based on genetic information. 

(a) Definitions. For purposes of this 

section, the following definitions as set 

forth in § 146.122 of this subchapter 

pertain to health insurance issuers in 

the individual market to the extent that 

those definitions are not inconsistent 

with respect to health insurance 

coverage offered, sold, issued, renewed, 

in effect or operated in the individual 

market: 

Collect has the meaning set forth at 

§ 146.122(a). 

Family member has the meaning set 

forth at § 146.122(a). 

Genetic information has the meaning 

set forth at § 146.122(a). 

Genetic services has the meaning set 

forth at § 146.122(a). 

Genetic test has the meaning set forth 

at § 146.122(a). 

Manifestation or manifested has the 

meaning set forth at § 146.122(a). 

Preexisting condition exclusion has 

the meaning set forth at § 144.103. 

Underwriting purposes has the 

meaning set forth at § 148.180(f)(1). 

(b) Prohibition on genetic information 

as a condition of eligibility. 

(1) In general. An issuer offering 

health insurance coverage in the 

individual market may not establish 

rules for the eligibility (including 

continued eligibility) of any individual 

to enroll in individual health insurance 

coverage based on genetic information. 

(2) Rule of construction. Nothing in 

paragraph (b)(1) of this section 

precludes an issuer from establishing 

rules for eligibility for an individual to 

enroll in individual health insurance 

coverage based on the manifestation of 

a disease or disorder in that individual, 

or in a family member of that individual 

when the family member is covered 

under the policy that covers the 

individual. 

(3) Examples. The rules of this 

paragraph (b) are illustrated by the 

following examples: 

Example 1. (i) Facts. A State implements 

the HIPAA guaranteed availability 

requirement in the individual health 

insurance market in accordance with 

§ 148.120. Individual A and his spouse S are 

not ‘‘eligible individuals’’ as that term is 

defined at § 148.103 and, therefore, they are 

not entitled to obtain individual health 

insurance coverage on a guaranteed available 

basis. They apply for individual coverage 

with Issuer M. As part of the application for 

coverage, M receives health information 

about A and S. Although A has no known 

medical conditions, S has high blood 

pressure. M declines to offer coverage to S. 

(ii) Conclusion. In this Example 1, M 

permissibly may decline to offer coverage to 

S because S has a manifested disorder (high 

blood pressure) that makes her ineligible for 

coverage under the policy’s rules for 

eligibility. 

Example 2. (i) Facts. Same facts as 

Example 1, except that S does not have high 

blood pressure or any other known medical 

condition. The only health information 

relevant to S that M receives in the 

application indicates that both of S’s parents 

are overweight and have high blood pressure. 

M declines to offer coverage to S. 

(ii) Conclusion. In this Example 2, M 

cannot decline to offer coverage to S because 

S does not have a manifested disease or 

disorder. The only health information M has 

that relates to her pertains to a manifested 

disease or disorder of family members, which 

as family medical history constitutes genetic 

information with respect to S. If M denies 

eligibility to S based on genetic information, 

the denial will violate this paragraph (b). 

(c) Prohibition on genetic information 

in setting premium rates. 

(1) In general. An issuer offering 

health insurance coverage in the 

individual market must not adjust 

premium amounts for an individual on 

the basis of genetic information 

regarding the individual or a family 

member of the individual. 

(2) Rule of construction. (i) Nothing in 

paragraph (c)(1) of this section 

precludes an issuer from adjusting 

premium amounts for an individual on 

the basis of a manifestation of a disease 

or disorder in that individual, or on the 

basis of a manifestation of a disease or 

disorder in a family member of that 

individual when the family member is 

covered under the policy that covers the 

individual. 

(ii) The manifestation of a disease or 

disorder in one individual cannot also 

be used as genetic information about 

other individuals covered under the 

policy issued to that individual and to 

further increase premium amounts. 

(3) Examples. The rules of this 

paragraph (c) are illustrated by the 

following examples: 

Example 1. (i) Facts. Individual B is 

covered under an individual health 

insurance policy through Issuer N. Every 

other policy year, before renewal, N requires 

policyholders to submit updated health 

information before the policy renewal date 

for purposes of determining an appropriate 

premium, in excess of any increases due to 

inflation, based on the policyholders’ health 

status. B complies with that requirement. 

During the past year, B’s blood glucose levels 

have increased significantly. N increases its 

premium for renewing B’s policy to account 

for N’s increased risk associated with B’s 

elevated blood glucose levels. 

(ii) Conclusion. In this Example 1, N is 

permitted to increase the premium for B’s 

policy on the basis of a manifested disorder 

(elevated blood glucose) in B. 

Example 2. (i) Facts. Same facts as 

Example 1, except that B’s blood glucose 

levels have not increased and are well within 

the normal range. In providing updated 

health information to N, B indicates that both 

his mother and sister are being treated for 

adult onset diabetes mellitus (Type 2 

diabetes). B provides this information 

voluntarily and not in response to a specific 

request for family medical history or other 

genetic information. N increases B’s premium 

to account for B’s genetic predisposition to 

develop Type 2 diabetes in the future. 

(ii) Conclusion. In this Example 2, N 

cannot increase B’s premium on the basis of 

B’s family medical history of Type 2 diabetes, 

which is genetic information with respect to 

B. Since there is no manifestation of the 

disease in B at this point in time, N cannot 

increase B’s premium. 

(d) Prohibition on genetic information 

as preexisting condition. 

(1) In general. An issuer offering 

health insurance coverage in the 

individual market may not, on the basis 

of genetic information, impose any 

preexisting condition exclusion with 

respect to that coverage. 

(2) Rule of construction. Nothing in 

paragraph (d)(1) of this section 

precludes an issuer from imposing any 

preexisting condition exclusion for an 

individual with respect to health 

insurance coverage on the basis of a 

manifestation of a disease or disorder in 

that individual. 

(3) Examples: The rules of this 

paragraph (d) are illustrated by the 

following examples: 

Example 1. (i) Facts. Individual C has 

encountered delays in receiving payment 

from the issuer of his individual health 

insurance policy for covered services. He 

decides to switch carriers and applies for an 

individual health insurance policy through 

Issuer O. C is generally in good health, but 

has arthritis for which he has received 

medical treatment. O offers C an individual 

policy that excludes coverage for a 12-month 

period for any services related to C’s arthritis. 

(ii) Conclusion. In this Example 1, O is 

permitted to impose a preexisting condition 

exclusion with respect to C because C has a 

manifested disease (arthritis). 

Example 2. (i) Facts. Individual D applies 

for individual health insurance coverage 

through Issuer P. D has no known medical 

conditions. However, in response to P’s 

request for medical information about D, P 

receives information from D’s physician that 

indicates that both of D’s parents have adult 

onset diabetes mellitus (Type 2 diabetes). P 

offers D an individual policy with a rider that 

permanently excludes coverage for any 

treatment related to diabetes that D may 

receive while covered by the policy, based on 

the fact that both of D’s parents have the 

disease. 

(ii) Conclusion. In this Example 2, the rider 

violates this paragraph (d) because the 

preexisting condition exclusion is based on 

genetic information with respect to D (family 

medical history of Type 2 diabetes). 

(e) Limitation on requesting or 

requiring genetic testing. 

(1) General rule. Except as otherwise 

provided in this paragraph (e), an issuer 


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offering health insurance coverage in 

the individual market must not request 

or require an individual or a family 

member of the individual to undergo a 

genetic test. 

(2) Health care professional may 

recommend a genetic test. Nothing in 

paragraph (e)(1) of this section limits the 

authority of a health care professional 

who is providing health care services to 

an individual to request that the 

individual undergo a genetic test. 

(3) Examples. The rules of paragraphs 

(e)(1) and (e)(2) of this section are 

illustrated by the following examples: 

Example 1. (i) Facts. Individual E goes to 

a physician for a routine physical 

examination. The physician reviews E’s 

family medical history, and E informs the 

physician that E’s mother has been diagnosed 

with Huntington’s Disease. The physician 

advises E that Huntington’s Disease is 

hereditary, and recommends that E undergo 

a genetic test. 

(ii) Conclusion. In this Example 1, the 

physician is a health care professional who 

is providing health care services to E. 

Therefore, the physician’s recommendation 

that E undergo the genetic test does not 

violate this paragraph (e). 

Example 2. (i) Facts. Individual F is 

covered by a health maintenance 

organization (HMO). F is a child being 

treated for leukemia. F’s physician, who is 

employed by the HMO, is considering a 

treatment plan that includes sixmercaptopurine, a drug for treating leukemia 

in most children. However, the drug could be 

fatal if taken by a small percentage of 

children with a particular gene variant. F’s 

physician recommends that F undergo a 

genetic test to detect this variant before 

proceeding with this course of treatment. 

(ii) Conclusion. In this Example 2, even 

though the physician is employed by the 

HMO, the physician is nonetheless a health 

care professional who is providing health 

care services to F. Therefore, the physician’s 

recommendation that F undergo the genetic 

test does not violate this paragraph (e). 

(4) Determination regarding payment. 

(i) In general. As provided in this 

paragraph (e)(4), nothing in paragraph 

(e)(1) of this section precludes an issuer 

offering health insurance in the 

individual market from obtaining and 

using the results of a genetic test in 

making a determination regarding 

payment. For this purpose, ‘‘payment’’ 

has the meaning given such term in 

§ 164.501 of this subtitle of the privacy 

regulations issued under the Health 

Insurance Portability and 

Accountability Act. Thus, if an issuer 

conditions payment for an item or 

service based on its medical 

appropriateness and the medical 

appropriateness of the item or service 

depends on a covered individual’s 

genetic makeup, the issuer is permitted 

to condition payment on the outcome of 

a genetic test, and may refuse payment 

if the covered individual does not 

undergo the genetic test. 

(ii) Limitation. An issuer in the 

individual market is permitted to 

request only the minimum amount of 

information necessary to make a 

determination regarding payment. The 

minimum amount of information 

necessary is determined in accordance 

with the minimum necessary standard 

in § 164.502(b) of this subtitle of the 

privacy regulations issued under the 

Health Insurance Portability and 

Accountability Act. 

(iii) Examples. See paragraph (g) of 

this section for examples illustrating the 

rules of this paragraph (e)(4), as well as 

other provisions of this section. 

(5) Research exception. 

Notwithstanding paragraph (e)(1) of this 

section, an issuer may request, but not 

require, that an individual or family 

member covered under the same policy 

undergo a genetic test if all of the 

conditions of this paragraph (e)(5) are 

met: 

(i) Research in accordance with 

Federal regulations and applicable State 

or local law or regulations. The issuer 

makes the request pursuant to research, 

as defined in § 46.102(d) of this subtitle, 

that complies with Part 46 of this 

subtitle or equivalent Federal 

regulations, and any applicable State or 

local law or regulations for the 

protection of human subjects in 

research. 

(ii) Written request for participation in 

research. The issuer makes the request 

in writing, and the request clearly 

indicates to each individual (or, in the 

case of a minor child, to the child’s legal 

guardian) that— 

(A) Compliance with the request is 

voluntary; and 

(B) Noncompliance will have no effect 

on eligibility for benefits (as described 

in paragraph (b) of this section) or 

premium amounts (as described in 

paragraph (c) of this section). 

(iii) Prohibition on underwriting. No 

genetic information collected or 

acquired under this paragraph (e)(5) can 

be used for underwriting purposes (as 

described in paragraph (f)(1) of this 

section). 

(iv) Notice to Federal agencies. The 

issuer completes a copy of the ‘‘Notice 

of Research Exception under the Genetic 

Information Nondiscrimination Act’’ 

authorized by the Secretary and 

provides the notice to the address 

specified in the instructions thereto. 

(f) Prohibitions on collection of 

genetic information. 

(1) For underwriting purposes. 

(i) General rule. An issuer offering 

health insurance coverage in the 

individual market must not collect (as 

defined in paragraph (a) of this section) 

genetic information for underwriting 

purposes. See paragraph (g) of this 

section for examples illustrating the 

rules of this paragraph (f)(1), as well as 

other provisions of this section. 

(ii) Underwriting purposes defined. 

Subject to paragraph (f)(1)(iii) of this 

section, underwriting purposes means, 

with respect to any issuer offering 

health insurance coverage in the 

individual market— 

(A) Rules for, or determination of, 

eligibility (including enrollment and 

continued eligibility) for benefits under 

the coverage; 

(B) The computation of premium 

amounts under the coverage; 

(C) The application of any preexisting 

condition exclusion under the coverage; 

and 

(D) Other activities related to the 

creation, renewal, or replacement of a 

contract of health insurance. 

(iii) Medical appropriateness. An 

issuer in the individual market may 

limit or exclude a benefit based on 

whether the benefit is medically 

appropriate, and the determination of 

whether the benefit is medically 

appropriate is not within the meaning of 

underwriting purposes. Accordingly, if 

an issuer conditions a benefit based on 

its medical appropriateness and the 

medical appropriateness of the benefit 

depends on a covered individual’s 

genetic information, the issuer is 

permitted to condition the benefit on 

the genetic information. An issuer is 

permitted to request only the minimum 

amount of genetic information necessary 

to determine medical appropriateness, 

and may deny the benefit if the covered 

individual does not provide the genetic 

information required to determine 

medical appropriateness. See paragraph 

(g) of this section for examples 

illustrating the applicability of this 

paragraph (f)(1)(iii), as well as other 

provisions of this section. 

(2) Prior to or in connection with 

enrollment. 

(i) In general. An issuer offering 

health insurance coverage in the 

individual market must not collect 

genetic information with respect to any 

individual prior to that individual’s 

enrollment under the coverage or in 

connection with that individual’s 

enrollment. Whether or not an 

individual’s information is collected 

prior to that individual’s enrollment is 

determined at the time of collection. 

(ii) Incidental collection exception. 

(A) In general. If an issuer offering 

health insurance coverage in the 

individual market obtains genetic 

information incidental to the collection 


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51696 Federal Register / Vol. 74, No. 193 / Wednesday, October 7, 2009 / Rules and Regulations 

of other information concerning any 

individual, the collection is not a 

violation of this paragraph (f)(2), as long 

as the collection is not for underwriting 

purposes in violation of paragraph (f)(1) 

of this section. 

(B) Limitation. The incidental 

collection exception of this paragraph 

(f)(2)(ii) does not apply in connection 

with any collection where it is 

reasonable to anticipate that health 

information will be received, unless the 

collection explicitly provides that 

genetic information should not be 

provided. 

(iii) Examples. The rules of this 

paragraph (f)(2) are illustrated by the 

following examples: 

Example 1. (i) Facts. Individual G applies 

for a health insurance policy through Issuer 

Q. Q’s application materials ask for the 

applicant’s medical history, but not for 

family medical history. The application’s 

instructions state that no genetic information, 

including family medical history, should be 

provided. G answers the questions in the 

application completely and truthfully, but 

volunteers certain health information about 

diseases his parents had, believing that Q 

also needs this information. 

(ii) Conclusion. In this Example 1, G’s 

family medical history is genetic information 

with respect to G. However, since Q did not 

request this genetic information, and Q’s 

instructions stated that no genetic 

information should be provided, Q’s 

collection is an incidental collection under 

paragraph (f)(2)(ii). However, Q may not use 

the genetic information it obtained 

incidentally for underwriting purposes. 

Example 2. (i) Facts. Individual H applies 

for a health insurance policy through Issuer 

R. R’s application materials request that an 

applicant provide information on his or her 

individual medical history, including the 

names and contact information of physicians 

from whom the applicant sought treatment. 

The application includes a release which 

authorizes the physicians to furnish 

information to R. R forwards a request for 

health information about H, including the 

signed release, to his primary care physician. 

Although the request for information does 

not ask for genetic information, including 

family medical history, it does not state that 

no genetic information should be provided. 

The physician’s office administrator includes 

part of H’s family medical history in the 

package to R. 

(ii) Conclusion. In this Example 2, R’s 

request was for health information solely 

about its applicant, H, which is not genetic 

information with respect to H. However, R’s 

materials did not state that genetic 

information should not be provided. 

Therefore, R’s collection of H’s family 

medical history (which is genetic information 

with respect to H), violates the rule against 

collection of genetic information and does 

not qualify for the incidental collection 

exception under paragraph (f)(2)(ii). 

Example 3. (i) Facts. Issuer S acquires 

Issuer T. S requests T’s records, stating that 

S should not provide genetic information and 

should review the records to excise any 

genetic information. T assembles the data 

requested by S and, although T reviews it to 

delete genetic information, the data from a 

specific region included some individuals’ 

family medical history. Consequently, S 

receives genetic information about some of 

T’s covered individuals. 

(ii) Conclusion. In this Example 3, S’s 

request for health information explicitly 

stated that genetic information should not be 

provided. Therefore, its collection of genetic 

information was within the incidental 

collection exception. However, S may not use 

the genetic information it obtained 

incidentally for underwriting purposes. 

(g) Examples regarding 

determinations of medical 

appropriateness. The application of the 

rules of paragraphs (e) and (f) of this 

section to issuer determinations of 

medical appropriateness is illustrated 

by the following examples: 

Example 1. (i) Facts. Individual I has an 

individual health insurance policy through 

Issuer U that covers genetic testing for celiac 

disease for individuals who have family 

members with this condition. I’s policy 

includes dependent coverage. After I’s son is 

diagnosed with celiac disease, I undergoes a 

genetic test and promptly submits a claim for 

the test to U for reimbursement. U asks I to 

provide the results of the genetic test before 

the claim is paid. 

(ii) Conclusion. In this Example 1, under 

the rules of paragraph (e)(4) of this section, 

U is permitted to request only the minimum 

amount of information necessary to make a 

decision regarding payment. Because the 

results of the test are not necessary for U to 

make a decision regarding the payment of I’s 

claim, U’s request for the results of the 

genetic test violates paragraph (e) of this 

section. 

Example 2. (i) Facts. Individual J has an 

individual health insurance policy through 

Issuer V that covers a yearly mammogram for 

participants starting at age 40, or at age 30 

for those with increased risk for breast 

cancer, including individuals with BRCA1 or 

BRCA2 gene mutations. J is 33 years old and 

has the BRCA2 mutation. J undergoes a 

mammogram and promptly submits a claim 

to V for reimbursement. V asks J for evidence 

of increased risk of breast cancer, such as the 

results of a genetic test, before the claim for 

the mammogram is paid. 

(ii) Conclusion. In this Example 2, V does 

not violate paragraphs (e) or (f) of this 

section. Under paragraph (e), an issuer is 

permitted to request and use the results of a 

genetic test to make a determination 

regarding payment, provided the issuer 

requests only the minimum amount of 

information necessary. Because the medical 

appropriateness of the mammogram depends 

on the covered individual’s genetic makeup, 

the minimum amount of information 

necessary includes the results of the genetic 

test. Similarly, V does not violate paragraph 

(f) of this section because an issuer is 

permitted to request genetic information in 

making a determination regarding the 

medical appropriateness of a claim if the 

genetic information is necessary to make the 

determination (and the genetic information is 

not used for underwriting purposes). 

Example 3. (i) Facts. Individual K was 

previously diagnosed with and treated for 

breast cancer, which is currently in 

remission. In accordance with the 

recommendation of K’s physician, K has been 

taking a regular dose of tamoxifen to help 

prevent a recurrence. K has an individual 

health insurance policy through Issuer W 

which adopts a new policy requiring patients 

taking tamoxifen to undergo a genetic test to 

ensure that tamoxifen is medically 

appropriate for their genetic makeup. In 

accordance with, at the time, the latest 

scientific research, tamoxifen is not helpful 

in up to 7 percent of breast cancer patients 

with certain variations of the gene for making 

the CYP2D6 enzyme. If a patient has a gene 

variant making tamoxifen not medically 

appropriate, W does not pay for the 

tamoxifen prescription. 

(ii) Conclusion. In this Example 3, W does 

not violate paragraph (e) of this section if it 

conditions future payments for the tamoxifen 

prescription on K’s undergoing a genetic test 

to determine the genetic markers K has for 

making the CYP2D6 enzyme. W also does not 

violate paragraph (e) of this section if it 

refuses future payment if the results of the 

genetic test indicate that tamoxifen is not 

medically appropriate for K. 

(h) Applicability date. The provisions 

of this section are effective with respect 

to health insurance coverage offered, 

sold, issued, renewed, in effect, or 

operated in the individual market on or 

after December 7, 2009. 

■ 15. The heading for subpart D is 

revised to read as follows: 

Subpart D—Preemption; Excepted 

Benefits 

■ 16. Section 148.220 is amended by 

adding two new sentences at the end of 

paragraph (b)(4) to read as follows: 

§ 148.220 Excepted benefits. 

* * * * * 

(b) * * * 

(4) * * *. The requirements of this 

part 148 (including genetic 

nondiscrimination requirements), do 

not apply to Medicare supplemental 

health insurance policies. However, 

Medicare supplemental health 

insurance policies are subject to similar 

genetic nondiscrimination requirements 

under section 104 of the Genetic 

Information Nondiscrimination Act of 

2008 (Pub. L. 110–233), as incorporated 

into the NAIC Model Regulation relating 

to sections 1882(s)(2)(e) and (x) of the 

Act (The NAIC Model Regulation can be 

accessed at http://www.naic.org.). 

* * * * * 


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Federal Register / Vol. 74, No. 193 / Wednesday, October 7, 2009 / Rules and Regulations 51697 

Approved: May 7, 2009. 

Charlene Frizzera, 

Acting Administrator, Centers for Medicare 

& Medicaid Services. 

Approved: May 15, 2009. 

Kathleen Sebelius, 

Secretary. 

[FR Doc. E9–22504 Filed 10–1–09; 11:15 am] 

BILLING CODE 4830–01–P; 4510–29–P; 4120–01–P 


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