Genetic Testing and 

the Rush to Perfection

Part of the Bioethics and 

Disability Series

National Council on Disability

October 23, 2019
National Council on Disability (NCD)

1331 F Street NW, Suite 850

Washington, DC 20004

Genetic Testing and the Rush to Perfection: Part of the Bioethics and Disability Series

National Council on Disability, October 23, 2019

This report is also available in alternative formats. Please visit the National Council on Disability (NCD) 

website (www.ncd.gov) or contact NCD to request an alternative format using the following information:

ncd@ncd.gov Email

202-272-2004 Voice

202-272-2022 Fax

The views contained in this report do not necessarily represent those of the Administration, as this and 

all NCD documents are not subject to the A-19 Executive Branch review process.
National Council on Disability

An independent federal agency making recommendations to the President and Congress 

to enhance the quality of life for all Americans with disabilities and their families.

Letter of Transmittal

October 23, 2019

The President

The White House

Washington, DC 20500

Dear Mr. President:

On behalf of the National Council on Disability (NCD), I am pleased to submit Genetic Testing and 

the Rush to Perfection, part of a five-report series on the intersection of disability and bioethics. This 

report, and the others in the series, focuses on how the historical and continued devaluation of the 

lives of people with disabilities by the medical community, legislators, researchers, and even health 

economists, perpetuates unequal access to medical care, including life-saving care.

Scientific, medical, and technological advances over the past decade have made genetic testing 

more commonly known and widely accepted among healthcare professionals and the public. 

Entrepreneurs offer direct-to-consumer genetic testing for individuals seeking knowledge on 

everything from their ancestry to their chances of developing breast cancer. The potential for 

discrimination against people with genetic conditions by entities such as employers and health 

insurers was recognized with the passage of the Genetic Information and Nondiscrimination 

Act (GINA) of 2008, which provides protections from employer discrimination based on genetic 

factors. If and how prenatal genetic testing comprises discrimination against people with genetic 

conditions, however, has been more controversial and has had a much more limited federal and 

state response.

NCD is concerned that prenatal and adult genetic testing laboratories have exploded in terms of 

number in the United States, with very little regulation or oversight beyond the Centers for Medicare 

and Medicaid Services (CMS) ensuring that the laboratories function properly and the tests correctly 

measure the DNA components claimed. Additionally, healthcare providers involved in prenatal 

genetic screening and diagnosis have little time to provide in-depth counseling about the tests

and the outcome of those tests. Genetic counselors, who would typically stand on the front lines 

of providing sufficient relevant information to facilitate informed reproductive choices for women, 

are subject to few requirements when it comes to disability cultural or social awareness and are 

increasingly being co-opted into the commercial genetic testing industry when they are directly 

hired by industry.

Genetic Testing and the Rush to Perfection examines the impact of genetic testing on people with 

disabilities and on disability communities, examines the range of scientific, commercial, medical/

professional, and social factors that converge around prenatal genetic testing as it affects people with 

disabilities, and also provides an update on the interaction between genetic testing and employment 

1331 F Street, NW ■ Suite 850 ■ Washington, DC 20004

202-272-2004 Voice ■ 202-272-2074 TTY ■ 202-272-2022 Fax ■ www.ncd.gov
discrimination. It concludes with recommendations aimed at greater federal and state oversight and 

quality control of genetic tests, and improving genetic counselor education on disability.

NCD stands ready to assist the Administration, Congress, and federal agencies to ensure that people 

with disabilities do not face discrimination in the area of genetic testing.

Respectfully,

Neil Romano

Chairman

(The same letter of transmittal was sent to the President Pro Tempore of the U.S. Senate and the Speaker of the 

U.S. House of Representatives.)

2 National Council on Disability
National Council on Disability Members and Staff

Members

Neil Romano, Chairman

Benro Ogunyipe, Vice Chairperson

Billy Altom

Rabia Belt

James Brett

Daniel Gade

Andrés Gallegos

Wendy S. Harbour

Clyde Terry

Staff

Phoebe Ball, Legislative Affairs Specialist

Stacey S. Brown, Staff Assistant

Joan M. Durocher, General Counsel & Director of Policy

Lisa Grubb, Executive Director

Netterie Lewis, Administrative Support Specialist

Amy Nicholas, Attorney Advisor

Nicholas Sabula, Public Affairs Specialist

Amged Soliman, Attorney Advisor

Anne Sommers, Director of Legislative Affairs & Outreach

Ana Torres-Davis, Attorney Advisor

Keith Woods, Financial Management Analyst

Genetic Testing and the Rush to Perfection 3
4 National Council on Disability
Contents

Acknowledgments . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  

Executive Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11

Purpose . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11

Background . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11

Key Findings . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  1

Key Recommendations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  1

Congress . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  1

Department of Health and Human Services (HHS) . . . . . . . . . . . . . . .  1

HHS, National Institutes of Health . . . . . . . . . . . . . . . . . . . . . . . . .  1

HHS, Food and Drug Administration . . . . . . . . . . . . . . . . . . . . . . .  1

HHS, Centers for Medicare and Medicaid Services . . . . . . . . . . .  1

Federal Trade Commission . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  1

Equal Employment Opportunity Commission . . . . . . . . . . . . . . . . . . .  1

State Legislatures . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  1

Professional Organizations and Training Accreditation 

Bodies of Healthcare Providers Engaged in Genetic 

Counseling such as the Genetics Society of America (GSA); 

American College of Medical Genetics (ACMG); American 

Board of Medical Genetics (ABMG); American Board 

of Genetic Counselors (ABGC); and the Association of 

Professors of Human and Medical Genetics (APHMG) . . . . . . . . . .  1

Genetic Testing Researchers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  1

Methodology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  1

Glossary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19

List of Abbreviations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  2

Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  2

Genetic Testing and the Rush to Perfection 5
Chapter 1: Impact of Genetic Testing on Individuals 

with Disabilities and on Disability Communities . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  2

Prenatal Genetic Analysis and Down Syndrome . . . . . . . . . . . . . . . . . . . .  2

Accuracy, Prenatal Testing, and Live Births of Babies 

with Down Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  2

The Situation of Iceland . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  3

The Issue of Abortion: How Decisions Are Made 

and Who Is Supposed to Help . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  3

Chapter 2: The Influence of Technological Advances . . . . . . . . . . . . . . . . . . . . . . . . . .  3

Noninvasive Prenatal Screening—The Game Changer . . . . . . . . . . . . . . .  3

Regulation of NIPS . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  4

The Booming Business of Babies and Marketing NIPS . . . . . . . . . . . . . . .  4

Genetic Counselors—A Profession Caught in the Middle . . . . . . . . . . . . .  4

Genetic Counselors and Disability . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  5

Genetic Counseling in Uncharted Territory . . . . . . . . . . . . . . . . . . . . . . . . .  5

Chapter 3: Healthcare System Pressures and Legal 

Protections and Gaps . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  5

Brief Overview of the US Healthcare System . . . . . . . . . . . . . . . . . . . . . . .  5

Current Genetic, Nondiscrimination, 

and Consumer Protections in Federal and State Law . . . . . . . . . . . . . . .  5

Pre-Birth . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  5

Post-Birth . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  6

How Effective Have Federal Anti-discrimination 

Laws Been in Protecting Individuals from 

Workplace Discrimination Based on the Results 

of Genetic Testing? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  6

Recent Congressional and Agency Efforts to Reduce 

ADA and GINA Protections for Employees to Keep 

Their Disability and Genetic Information Private 

from Employers in Workplace Wellness Programs . . . . . . . . . .  6

State Laws Barring Discrimination Based 

on Genetic Testing Information . . . . . . . . . . . . . . . . . . . . . . . . . .  6

Enforcement . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  7

Wellness Programs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  7

6 National Council on Disability
Chapter 4: Finding a Way Forward Among Competing Concerns . . . . . . . . . . . . . . .  7

Timing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  7

Building Consensus . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 74

Changing Hearts and Minds . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  7

Case Study . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  7

Conclusion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  8

Recommendations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  8

Endnotes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  8

Genetic Testing and the Rush to Perfection 7
8 National Council on Disability
Acknowledgments

This report is part of a series of reports on bioethics and people with disabilities which was 

developed through a cooperative agreement with the Disability Rights Education & Defense Fund 

(DREDF). The National Council on Disability (NCD) appreciates the work of the those who contributed 

their expertise in its development, including Silvia Yee, Senior Staff Attorney, DREDF; Jennifer Mathis, 

Director of Policy and Legal Advocacy, Judge David L. Bazelon Center for Mental Health Law; and 

Erin Shea, Policy and Legal Advocacy Fellow, Judge David L. Bazelon Center for Mental Health Law. 

NCD also appreciates the work of Marilyn Golden, Senior Policy Analyst, DREDF, who shepherded the 

entire report series in cooperation with NCD. We also thank those who participated on the Advisory 

Panel, in interviews, and in the stakeholder convening, whose knowledge and willingness to share 

information helped make this series possible.

Genetic Testing and the Rush to Perfection 9
10 National Council on Disability
Executive Summary

Genetic Testing and the Rush to Perfection 11

Purpose

T

his report examines the impact of genetic 

testing on people with disabilities and on 

disability communities. Scientific, medical, 

and technological advances over the past decade 

have made genetic testing more commonly 

known and widely accepted among healthcare 

professionals and the public. Entrepreneurs offer 

direct-to-consumer genetic testing for individuals 

seeking knowledge on everything from their 

ancestry to their chances of developing breast 

cancer. The potential for discrimination against 

people with genetic conditions by entities 

such as employers and health insurers was 

recognized federally with the passage in 2008 of 

the Genetic Information and Nondiscrimination 

Act (GINA), which provides protections from 

employer discrimination based on genetic factors. 

If and how prenatal genetic testing comprises 

discrimination against people with genetic 

conditions, however, has been more controversial 

and has had a much more limited federal and 

state response. This paper examines the range 

of scientific, commercial, medical/professional, 

and social factors that converge around 

prenatal genetic testing as it affects people 

with disabilities, and also provides an update 

on the interaction between genetic testing and 

employment discrimination.

Background

Approximately 20 years ago, some disability 

rights advocates who had fought for full and 

equal access to all aspects of American life 

focused their attention on how genetic testing, 

particularly prenatal genetic testing, affected 

people with disabilities and disability 

communities. The disability critique of prenatal 

genetic testing prompted in-depth dialogue

among, and writings by, bioethicists, healthcare 

professionals, people with disabilities, and 

parents of people with disabilities about the 

underlying purpose and result of providing 

information that was explicitly aimed at reducing 

the number of people who live with a genetic 

condition. In the years since, scientific and 

medical advances in prenatal genetic testing, 

and particularly the discovery of Noninvasive 

Prenatal Screening (NIPS), have made prenatal 

genetic testing more commonly available to 

women of different ages, socioeconomic 

backgrounds, and health histories than ever 

before, for an increasing number of genetic 

conditions. Moreover, rapid advances in prenatal 

genetic engineering, including inheritable 

changes in human genetic makeup, have 

dramatically raised the stakes not only for 

disability communities but for all of humanity, 

which must grapple with the implications of 
human genetic experimentation for bioethics, 

the widening gap between those with economic 

power and those without, the value of diversity, 

and eugenics.

Genetic testing in general has historically led 

to barriers and discrimination against individuals 

who receive positive test results for a genetic 

condition, even if an individual is asymptomatic 

and may never develop the condition itself. 

Employers, particularly those who bankroll 

health insurance for their employees, can regard 

employees at risk of acquiring a disability as a 

financial loss that can best be avoided through 

dismissal. Such a workplace winnowing, 

however, requires access 

to genetic information 

about employees. 

The degree to which 

the Americans with 

Disabilities Act (ADA) 

and GINA continue to 

protect applicants and 

employees against 

discrimination, at a 

time when Congress 

and federal agencies 

have allowed broad 

interpretations of 

workplace wellness 

programs to undermine 

the confidentiality of genetic testing information, 

is a critical question.

GINA was passed over 10 years ago. What 

has made it so difficult to address concerns 

raised by the disability community 20 years ago 

about the discriminatory implications of prenatal 

genetic testing for people with disabilities? One 

key difference is that prenatal genetic testing 

The degree to which the Americans 

with Disabilities Act (ADA) 

and Genetic Information and 

Nondiscrimination Act (GINA) 

continue to protect applicants and 

employees against discrimination, 

at a time when Congress and 

federal agencies have allowed 

broad interpretations of workplace 

wellness programs to undermine 

the confidentiality of genetic testing 

information, is a critical question

provides information about a fetus in utero or 

an embryo that awaits implantation in utero, 

and women have a right to reproductive choice 

and privacy concerning the motives behind their 

choice. Respecting this right, while recognizing 

the concerns of disability communities who 

fear the ongoing dissemination of deeply 

rooted stereotypes about people who live with 

disability, eventually led to the passage of the 

federal Prenatally and Postnatally Diagnosed 

Conditions Awareness Act (PPDCAA) in the 

same year as GINA. The PPDCAA requires 

that healthcare providers and patients receive 

scientifically current, balanced medical and 

social information about 

living with genetic 

conditions. A lack of 

funding sharply reduced 

the effectiveness of 

the PPDCAA. Without 

a funded effective 

mandate for balanced 

education about living 

with a disability, women 

and families who 

undergo prenatal genetic 

testing will continue to 

be subject to a “perfect 

storm” of rapid and 

generally unregulated 

technological capacity, genetic testing 

information that is increasingly disconnected 

from clinical results or actionable knowledge, 

and professional standards of care that are 

subject to pressure by the growing involvement 

of for-profit commercial testing laboratories and 

an ongoing shortage of independent genetic 

counselors.

12 National Council on Disability
Key Findings

It is possible to provide a balanced understanding 

of what it means medically and socially to have 

a child with a genetic condition, and what it 

means to live with a disability in the context of 

prenatal genetic testing. The necessity for doing 

so arises from the continued existence of deeply 

rooted social stereotypes and ongoing prejudice 

about disability, within and without the medical 

community. This paper’s case study provides 

one example of how balanced, current medical 

and social education about disability can be 

achieved through provider and parent education. 

Unfortunately, there 

are no or exceedingly 

few incentives to 

promote such a balanced 

understanding in the 

current world of prenatal 

genetic testing. By 

extension, there are 

also few incentives to 

incorporate a disability 

rights viewpoint or 

understanding in the 

dawning world of prenatal genetic engineering, 

the first inheritable human incident of which made 

headlines all over the world at the end of 2018 

when a scientist in China attempted germline 

editing on twin girl embryos to create resistance 

to HIV/AIDS, legally and socially recognized 

as a disability in the United States. From early 

manifestations of prenatal genetic testing in 

conjunction with preimplantation genetic diagnosis 

(PGD) to the latest NIPS tests, the impacts have 

been felt within disability communities, and are 

simultaneously difficult to trace given limited data 

collection on testing outcomes.

Unfortunately, there are 

exceedingly few incentives 

to promote such a balanced 

understanding [of disability] in 

the current world of prenatal 

genetic testing .. r .

the dawning world of prenatal 

genetic engineering 

Healthcare providers involved in prenatal 

genetic screening and diagnosis have little time 

to provide in-depth counseling about the tests 

and the outcome of those tests. Genetic 

counselors, who would typically stand on the 

front lines of providing sufficient relevant 

information to facilitate informed reproductive 

choices for women, are subject to few 

requirements when it comes to disability 

cultural or social awareness and are 

increasingly being potentially co-opted into the 

commercial genetic testing industry when they 

are directly hired by the industry. Prenatal and 

adult genetic testing 

laboratories have 

exploded in terms of 

number and profitability 

in the United States, 

with very little regulation 

or oversight beyond the 

Centers for Medicare 

and Medicaid Services 

(CMS) ensuring that the 

laboratories function 

properly and the tests 

correctly measure the DNA components 

claimed. Over the last 10 years, industry has 

achieved technical leaps and bounds, developed 

sophisticated direct-to-market advertising 

materials and informational websites, and even 

coalesced into a lobbying arm that works with 

states to get Medicaid reimbursement for 

prenatal genetic testing. Genetic counseling, 

however, which is becoming more and more 

necessary as women and their partners 

receive commensurately greater amounts of 

unmediated test results, remains unrecognized 

by CMS as a profession that can independently 

Genetic Testing and the Rush to Perfection 13
bill, or that state Medicaid agencies will 

independently cover as “medically necessary.”

The federal PPDCAA is one attempt to 

ensure that providers and parents receive 

current information about living with genetic 

conditions and available supports, but the act is 

unfunded. Nineteen states have enacted similar 

legislation, though these vary in sometimes 

important details. Anti-abortion groups could 

target these information-oriented laws and 

propose amendments 

that create barriers 

for termination of 

a pregnancy after a 

prenatal diagnosis 

of Down syndrome 

or another genetic 

condition. Most of these 

acts have no provision 

for data gathering after 

their implementation, 

so it is difficult to know 

if and how effective 

they have been since 

enactment, even if there 

were baseline data 

available for comparison.

Unlike prenatal 

genetic testing, genetic 

information concerning adults is a more regulated 

area. The ADA and GINA have been used to 

address workplace discrimination based on 

individuals’ genetic information. While GINA 

has often been dismissed as responding to a 

nonexistent problem of discrimination based 

on genetic information, studies have repeatedly 

shown that such discrimination is not uncommon. 

The ADA has limited application to this type of 

Over the last 10 years, industry 

has ... developed sophisticat

direct-to-market advertising 

materials and informational 

websites, and even coalesced into a 

lobbying arm that works with states 

to get Medicaid reimbursement 

for prenatal genetic testing

Genetic counseling, however, 

remains unrecognized by CMS as a 

profession that can independently 

bill, or that state Medicaid agencies 

will independently cover as 

“medically necessary.

discrimination, as an individual who may develop 

a genetic condition may not always meet the 

definition of a person with a disability protected 

by federal anti-discrimination laws. GINA, which 

addresses discrimination more directly, has 

been invoked in a relatively small number of 

circumstances to challenge adverse action taken 

by employers on the basis of employees’ or job 

applicants’ genetic information. GINA has been 

widely used, however, to address employees’ 

ability to keep their 

genetic information 

private or confidential 

from their employers. In 

an era where employers 

are increasingly 

seeking to make use 

of “big data,” those 

protections ensuring 

privacy of employees’ 

genetic information are 

important.

Indeed, workplace 

wellness programs 

have increasingly been 

used as a way to collect 

employees’ health and 

genetic information. The 

ADA and GINA protect 

against the use of financial inducements to 

pressure employees to disclose such information, 

but in the past several years, Congress and 

federal agencies have made efforts to weaken 

those protections and allow large financial 

penalties for employees who choose not to 

provide that information. Those efforts have not 

been successful to date, leaving at least for now, 

the protections of the ADA and GINA in place.

14 National Council on Disability
While state laws addressing genetic 

discrimination in the workplace are typically 

less protective than GINA, a state law proposal 

being considered by the California legislature 

has clear statutory language banning the 

use of financial inducements for employees 

to disclose health or genetic information in 

workplace wellness programs, and it may 

offer a useful model for states attempting to 

make their laws as clear as possible while 

maximizing protection for the confidentiality 

of genetic and health information in workplace 

wellness programs.

Key Recommendations

Congress

■ Develop enforceable Sunshine and Conflictof-Interest laws that will bring transparency 

to any financial relationships among genetic 

counselors, providers, and commercial 

laboratories.

■ Fund the Prenatally and Postnatally 

Diagnosed Conditions Awareness Act, 

Pub. L. No. 110-374, 122 Stat. 4051 (2008).

■ Incentivize the development of educational 

units on disability experience and exposure 

in genetic counselor education.

Department of Health and Human 

Services (HHS)

HHS, National Institutes of Health

■ Establish standing relationships with 

disability advocacy organizations and include 

individuals from them on genetic advisory 

panels.

■ Encourage the attendance of advocates 

and representatives from disability 

communities at biomedical conferences by 

offering scholarships that reduce or cover 

fees and expenses.

HHS, Food and Drug Administration

■ End enforcement discretion and regulate 

LDTs, specifically, Noninvasive Prenatal 

Screening (NIPS), to establish and enforce 

standards for the accuracy of any claims 

made by prenatal genetic testing entities, 

and proactively work with the Federal 

Trade Commission to oversee marketing by 

genetic testing entities.

HHS, Centers for Medicare and 

Medicaid Services

■ Recognize genetic counselors as 

health professionals who can receive 

reimbursement through Medicare and 

incentivize Medicaid payments for 

genetic counseling as an independent 

healthcare service rather than only 

reimbursing genetic testing.

Federal Trade Commission

■ Actively oversee the marketing claims 

and practices of prenatal genetic 

testing companies as more tests with 

questionable clinical validity and utility 

enter the market as part of the “standard” 

testing panels that companies offer.

Equal Employment Opportunity 

Commission

■ Leave wellness rules as they are now 

(May 2019) or, if EEOC does revise them, 

the agency should clarify that no financial 

incentives or penalties are permitted to 

induce employees to disclose health and 

genetic information.

Genetic Testing and the Rush to Perfection 15
State Legislatures

■ If genetic testing, and especially NIPS, is 

funded as a Medicaid service, the state 

should also ensure Medicaid funding for 

neutral genetic counseling before and after 

testing takes place.

■ Where state Medicaid programs cover 

prenatal genetic testing, the state should 

ensure that it collects voluntarily provided 

information on patient demographics, 

including disability status, outcomes, and the 

quality of genetic counseling received before 

the testing, if any. This information will allow 

states and researchers to assess the use 

and results of prenatal genetic testing as a 

publicly insured service over time.

■ Should consider enacting legislation, like 

that pending in California, that clarifies 

that no financial inducements are allowed 

for participating in or providing data to a 

workplace wellness program.

Professional Organizations and Training 

Accreditation Bodies of Healthcare 

Providers Engaged in Genetic 

Counseling such as the Genetics 

Society of America (GSA); American 

College of Medical Genetics (ACMG); 

American Board of Medical Genetics 

(ABMG); American Board of Genetic 

Counselors (ABGC); and the Association 

of Professors of Human and Medical 

Genetics (APHMG)

■ Clarify that disability education and cultural 

awareness extends beyond examining best 

practices for effectively communicating 

with patients with disabilities and includes 

a social and civil rights context for 

understanding disability.

■ Ensure that the materials used for 

provider and patient education are passed 

through a consensus group of reimbursed 

stakeholders, including representatives 

from affected disability communities, 

to minimize the outsized influence of 

industry and investors in prenatal genetic 

testing.

■ Professional standards of care for offering 

NIPS and other prenatal genetic tests 

should be established through consensus 

negotiations that include genetic counselors, 

obstetrics and gynecology care providers, 

and representatives from affected disability 

communities. Genetic testing entities 

should not be allowed to market or provide 

specific genetic tests that have not been 

vetted through a professional organization 

using a consensus process.

■ Ensure that online and printed materials 

used for provider and patient education are 

fully communication accessible to people 

with a range of disabilities and diverse 

linguistic and cultural backgrounds.

■ The Accreditation Council for Genetic 

Counselling (ACGC) must make disability 

education and cultural awareness mandatory 

and more consistent among genetic 

counselor programs, within a reasonable 

range of time and resources. The same holds 

true of professional ongoing education.

Genetic Testing Researchers

■ Propose ways to achieve better data over 

time to determine the link between prenatal 

testing outcomes and various factors in the 

field of genetic testing such as counseling, 

cultural conditions, social expectations, and 

16 National Council on Disability
social determinants of health for particular 

disability communities.

■ Research the relationship between women’s 

choices after receiving pre-test counseling 

and after undergoing genetic testing, and 

how choices are affected by the kinds of 

genetic counseling information provided, 

who delivers it, and who is paying for the 

counseling.

Methodology

The methodology for this paper includes a 

literature review using multiple academic sources 

including law reviews, disability studies articles, 

and science, medical, and social science journals. 

Nonacademic sources were also reviewed and 

include articles and analyses published in popular 

newspapers and magazines, as well as online 

sources ranging from information provided in 

official government websites such as the Centers 

for Disease Control, to blog posts published 

by nonprofit advocacy entities and marketing 

materials offered by commercial for-profit entities 

that offer direct-to-consumer genetic testing. 

Media and online sources for the public were 

also reviewed, as prospective parents and 

adults have increasing access to genetic testing 

outside of a purely medical context. For example, 

commercial laboratories that offer adults services 

like health reports and ancestry searches from 

a saliva sample and are paid for out-of-pocket 

have no need for a healthcare provider’s referral 

and are subject to little regulation. As a result, 

decisions about when testing takes place, who 

is tested, the consequences of testing, and what 

happens with the results are not only influenced 

by information found in health professionals’ 

journals or peer-reviewed scientific articles, but in 

mainstream media as well.

Literature research was supplemented by 

phone interviews of five key stakeholders: 

a woman with visible disabilities who has 

undergone prenatal genetic testing, a Masters’ 

Level Genetic Counselor with over a decade 

of professional experience, a representative 

of a Down syndrome advocacy organization, 

the founder of an organization that provides 

balanced medical and social information on 

Down syndrome to women receiving prenatal 

genetic test results, and a woman who has 

been involved in litigation involving allegations 

of genetic discrimination in the workplace. 

The first- and second-hand experiences they 

shared helped shape the direction of this paper, 

and particularly the recommendations that 

accompany it.

Genetic Testing and the Rush to Perfection 17
18 National Council on Disability
Glossary1

Amniocentesis Prenatal diagnostic test performed in conjunction with ultrasound, in which 

the amniotic fluid (the fluid from the sac surrounding the baby) is mechanically 

withdrawn and analyzed.

Aneuploidy Any deviation from the typical number of chromosomes, usually meaning a cell 

nucleus possessing too many or too few chromosomes. 

cffDNA Cell-free fetal DNA, which is used for prenatal testing, and is obtained from a 

blood draw of a pregnant woman.

CVS or CV Chorionic villus sampling is a prenatal diagnostic test that examines material 

from the placenta.

DNA Deoxyribonucleic acid—An extremely long molecular element that is the 

primary component of chromosomes, and carries information for the genetic 

characteristics of life forms.

Germline Engineering Making changes in germinal (reproductive) cells such that those changes will 

be passed on to subsequent generations through reproduction.

LDTs Laboratory-developed tests. A new genetic test usually comes to the market 

as an LDT where a single laboratory develops and performs the test and 

client, or provider-gathered specimen samples are sent to that laboratory to be 

tested.

Microdeletion A “patch” or group of DNA that is typically present within human 

chromosomes or genomes, and that is missing from a particular individual’s 

chromosome or genome.

NGS Next generation sequencing, which is an umbrella term for a number of new 

techniques that generate large masses of DNA and therefore allow for much 

faster sequencing of an individual’s DNA.

NIPS (or NIPT) Noninvasive prenatal screening (or testing) that analyzes cell-free fetal DNA 

(cffDNA) obtained from a simple blood draw from a pregnant woman to 

determine the likelihood that a fetus carries particular genetic conditions.

Polygenic Risk Score Analyzing multiple regions of DNA at once to derive a fetus or person’s 

likelihood of having or developing a certain trait or condition. 

Genetic Testing and the Rush to Perfection 19
PPDCAA Prenatally and Postnatally Diagnosed Conditions Awareness Act, Pub. L. 

No. 110-374, § 2(1)-(3), 122 Stat. 4051, 4051 (2008). Federal law aimed at 

ensuring that pregnant women undergoing genetic testing receive up-todate information about raising children living with Down syndrome and other 

genetic conditions and evidence-based information about the accuracy of 

genetic testing.

UCEDD University Centers of Excellence on Developmental Disabilities, which is part 

of the Association of University Centers on Disability (AUCD), is administered 

by the Administration on Intellectual and Developmental Disabilities (AIDD).

20 National Council on Disability
List of Abbreviations

ACA Affordable Care Act

ABGC American Board of Genetic Counselors 

ABMG American Board of Medical Genetics 

ACMG American College of Medical Genetics and Genomics

ACGC Accreditation Council for Genetic Counselling

ACOG American College of Obstetricians and Gynecologists

ADA Americans with Disabilities Act of 1990

APHMG Association of Professors of Human and Medical Genetics 

CAPS Coalition for Access to Prenatal Screening 

cfDNA Cell-free DNA

cffDNA Cell-free fetal DNA

CMS US Centers for Medicare and Medicaid Services

CRISPR Clustered regularly interspaced short palindromic repeats

CVS or CV Chorionic villus sampling 

DNA Deoxyribonucleic acid 

EEOC US Equal Employment Opportunity Commission

FDA US Food and Drug Administration

FTC US Federal Trade Commission

GINA Genetic Information and Nondiscrimination Act

GSA Genetics Society of America 

HHS US Department of Health and Human Services

HNPP Hereditary neuropathy with liability pressure palsies 

IVF In-vitro fertilization

LDTs Laboratory-developed tests 

NDSC National Down Syndrome Congress

NGS Next generation sequencing

NIPS (or NIPT) Noninvasive prenatal screening (or testing) 

NPGD Noninvasive prenatal genetic diagnosis 

OI Osteogenesis imperfecta

PGD Preimplantation genetic diagnosis

PPDCAA Prenatally and Postnatally Diagnosed Conditions Awareness Act 

SCA Sex chromosome aneuploidies

UCEDD University Centers of Excellence on Developmental Disabilities

Genetic Testing and the Rush to Perfection 21
For disability rights advocates, the distinction 

between “perfectly normal” and “broken” is 

not an objective medical bright line in the sand, 

but a normative judgment that reflects human 

prejudice, disability stereotypes, and the social 

and physical barriers that place arbitrary limits 

on the length and quality of life of people with 

many different disabilities

22 National Council on Disability
Introduction

With direct-to-consumer marketing of 

genetic tests for everything from 

ancestry to personalized medicine, 

common public views about the use of genetic 

testing characterize it as a success story that 

arises naturally and practically from the mapping 

of the Human Genome Project and researchers’ 

increasing ability to link genetic markers with 

specific health conditions and diagnoses. 

According to these views, prenatal genetic 

testing provides information, more information 

leads to better prenatal/preventive care and more 

informed choices, and better care and more 

choice is always good.2 Disability, on the other 

hand, is usually viewed as something that limits 

the choices of both parents and a prospective 

child.3 It is understood as a negative health 

consequence that awaits amelioration through 

medical science. This simplistic view of prenatal 

genetic testing was challenged by bioethicists 

Parens and Asch almost 20 years ago in a 2-year 

project involving multiple stakeholders, including 

people with disabilities, academics, bioethicists, 

authors, and researchers.4

Since that seminal project, there have 

been many changes in genetic analysis, 

public and private healthcare coverage, the 

commercialization and marketing of prenatal 

genetic tests, disability rights laws, state and 

federal laws on genetic counseling, and medical 

standards of care. The question raised by 

Parens and Asch, however, remains. What is 

the impact of genetic testing on the disability 

community, and on persons with disabilities as 

parents, as self-advocates, as employees, and as 

members of society who continue to experience 

discrimination and real barriers to fully entering 

the economic, social, and cultural mainstream of 

American life?

This paper evaluates the state of evidence on 

the implications of genetic testing for people with 

disabilities and presents a different view than the 

popular understanding of genetic testing as a 

way to avoid the “burden” of disability.5 It 

considers recent scientific, commercial, social, 

and legal developments concerning genetic 

testing, as administered pre-birth or as used 

post-birth by employers with respect to job 

applicants or employees. It will examine the 

literature on how genetic testing policies and 

practices impact people with disabilities as both 

“objects” and users of genetic testing. It will also 

identify the various stakeholders involved in 

genetic testing, especially as technological 

developments such as Noninvasive Prenatal 

Screening (NIPS) have allowed private for-profit 

providers to market directly to potential parents 

without any known risk factors. All stakeholders 

operate within a complex scheme of professional 

guidelines, federal laws, and state regulations 

Genetic Testing and the Rush to Perfection 23
that may ignore, consider, or co-opt disability 

rights concerns. The growing presence of private 

entities that hold genetic information about 

fetuses and their parents raises growing 

concerns about the confidentiality and use of 

such information. The increasing role of these 

private entities also 

warrants scrutiny of 

how effectively 

protections limiting the 

discriminatory use of 

genetic information are 

being implemented.

Chapter 2 also 

examines technologies 

that have emerged 

from and are related to genetic testing, but 

that have additional implications beyond the 

individual fetus or embryo that is being tested. 

These new technologies involve genetic 

engineering and prenatal and in vitro genetic 

manipulation, including the use of techniques 

leading to inheritable germline modifications. 

The expanding potential of genetic modification, 

and a consistent stream of news about yet 

another scientist who has broken away to push 

the envelope on human genetic engineering, 

has raised a firestorm of public, academic, and 

ethical comment.6 Amidst the controversy are 

voices that recognize the need for an evaluative 

framework that holds scientific advancement 

accountable for advancing good, and not merely 

avoiding the bad. What social, cultural, legal, and 

political changes are needed to create “public 

policy regarding reproduction [that] can promote 

well-being, equality, and diversity”?7 This is a 

higher and broader standard for evaluating a 

community response to new technologies that 

demands consideration for how traditionally 

The growing presence of 

private entities that hold genetic 

information about fetuses and their 

parents raises growing concerns 

about the confidentiality and use of 

such information

underserved groups have been left out of 

the conversation, because of race, disability, 

gender, sexual orientation, gender identity, or 

any number of other individual or intersecting 

characteristics. As one writer put it:

While we struggle to 

protect women’s right to 

self-determination and 

control over procreation, 

we must also keep 

in mind that we are 

entering a new era of 

reproductive technology 

that does not necessarily 

parallel the needs of 

women and families, but rather, follows 

private investors’ market predictions. Public 

Foundational Principles

NCD accepts the following as foundational 

principles:

■ reproduction and child rearing are activities 

that concern all of society;

■ disability is an inherent part of the diversity 

of life, and people with disabilities must be 

full and equal partners in society;

■ decisions if, when, and how to have and 

raise children are the intensely private 

decisions of a woman and her family; and

■ individuals and families should have full 

access to any resources, including medical, 

social, and practical information about living 

with disabilities, that they need to make 

informed decisions.

24 National Council on Disability
oversight is the best way to encourage 

the necessary thoughtful deliberation over 

these issues, because reproduction is an 

activity that concerns all of society.8

In practice, each of these principles can 

lead to laws or policies that will be in tension 

with the others. The current context of genetic 

testing in the United States features rapid and 

competitive scientific discovery, corporate profit 

motives, limited access to independent genetic 

counseling, and significant regulatory gaps. How 

can the disability community, as members of 

society, parents and potential parents, employees 

and employers effectively move from a position 

of defense to advocating for genetic justice? 

Genetic engineering does not necessarily raise 

the same potential as genetic testing for a direct 

conflict with reproductive rights advocates, but 

genetic analysis and manipulation raise a similar 

clash of divergent interests and opinions within 

the broader disability community.9

There are those within the disability 

community who argue strongly for urgency 

in society’s use of new genetic technologies. 

One mother of a child with Duchenne Muscular 

Dystrophy wanted gene editing to be used like 

“an eraser on a pencil: correcting genes like 

correcting misspelled words on a page.” She 

clarified, “We should use this technology to fix 

the most dangerous mutations that have no 

cure. . . . I oppose ‘designer’ gene editing—

making changes to perfectly normal genes. . . . 

Fixing broken genes should take precedence 

over altering healthy ones.”10 For disability rights 

advocates, the distinction between “perfectly 

normal” and “broken” is not an objective 

medical bright line in the sand, but a normative 

judgment that reflects human prejudice, disability 

stereotypes, and the social and physical barriers 

that place arbitrary limits on the length and 

quality of life of people with many different 

disabilities. Even if there is agreement on which 

genetic conditions invariably lead to very short 

life spans, high pain levels, and immediately 

limited or decreasing functional capacity, there 

is not agreement on the kinds of policies that 

can follow.11

While individuals and families make 

reproductive and treatment decisions, over 

time, professional practice in the application of 

genetic testing and behavior has led and will 

lead to the development of medical, legal, and 

social standards of professional behavior. These 

standards, in their turn, constrain and shape 

individual decisions as well as the decisions 

of other professionals. It is this circular cycle 

of influence and behavior that makes disability 

advocates and people with disabilities fearful, 

because the understanding of disability as a 

tragedy that requires a medical fix is deeply 

inscribed in ancient and recent history.12

NCD’s final recommendations address 

knowledge, policy, and regulatory gaps that 

allow private commercial genetic testing entities 

to have significant influence over who gets 

prenatal genetic testing, the genetic conditions 

for which they get tested, and how genetic 

counseling is or is not delivered pre- and posttest. In the face of private entities’ drive to 

prioritize profits, minimize rising healthcare 

costs, and emphasize prenatal genetic testing 

as a “preventive health” measure, disability 

communities and advocates can best offer 

their lives and experiences with disability. 

The recommendations directed at federal and 

state law and policymakers, genetic testing 

professions and provider accreditation bodies, 

Genetic Testing and the Rush to Perfection 25
professional regulating bodies, and people with 

disabilities and disability advocates are intended 

primarily to “level the playing field” by exposing 

and limiting potential conflicts of interest among 

genetic counselors and providers by ensuring 

that providers and patients get accurate, 

balanced information about the medical and 

social functional needs that come when a child 

has a specific genetically inherited condition. 

Neither of these desired goals will occur 

without deliberate, thoughtful, ethical and 

regulatory discussions that fully include people 

with disabilities. The existing “hands off” status 

quo is not an option in the highly dynamic, 

profit-driven field of genetic testing. The rapid 

pace of genetic technology, and the willingness 

of “rogue” scientists to experiment with 

human subjects force scientists, academics, 

and members of the public to confront a 

foundational question: Do we control genetic 

technology, or does it control us?13

26 National Council on Disability
Chapter 1: Impact of Genetic Testing on Individuals 

with Disabilities and on Disability Communities

Eric Parens and Adrienne Asch first wrote 

about genetic testing and its potential 

impact on the disability community in 1999:

As the ease of testing increases, so does 

the perception within the medical and 

broader communities that prenatal testing 

is a logical extension of good prenatal 

care: the idea is that prenatal testing helps 

prospective parents have healthy babies. 

On the one hand, this perception is quite 

reasonable. . . . On the other hand, as long 

as in-utero interventions remain relatively 

rare, and as long as the number of people 

seeking prenatal genetic information 

to prepare for the birth of a child with a 

disability remains small, prospective parents 

will use positive prenatal test results 

primarily as the basis of a decision to abort 

fetuses that carry mutations associated 

with disease and/or disability.14

The two decades since have shown their 

words were prescient. In the mid-1990s, Parens 

and Asch gathered healthcare professionals, 

disability advocates, advocates, bioethicists, and 

scientists for a “sustained dialogue”15 of five 

2-day meetings held over a 2-year period. The 

dialogue allowed this group to closely examine 

criticisms from a disability rights viewpoint 

about how prenatal testing was offered and 

discussed, how testing results were presented 

to prospective parents, and how subsequent 

decisions concerning pregnancy affected 

people with disabilities as members of society. 

The group could not manage to agree on the 

genetic conditions for which testing would be 

reasonable, but was able to achieve greater 

consensus on how prenatal tests should ideally 

be offered and discussed.16 For NCD, the main 

concern is the extent to which Parens and 

Asch’s fears have come true, and the degree 

to which their recommendations for providing 

genetic counseling that takes fuller account of 

the disability viewpoint have been successfully 

implemented in the specific context of Down 

syndrome.

Prenatal Genetic Analysis and 

Down Syndrome

Human beings are typically born with 

46 organized “bundles” of genes, called 

chromosomes. Down syndrome occurs when a 

fetus has an extra copy of the 21st chromosome, 

which then affects how the fetus, and the baby 

after birth, develops and grows.17 People with 

Down syndrome may share some known physical 

characteristics, and typically have some degree 

of cognitive delay, as well as an increased risk 

of some medical conditions such as congenital 

Genetic Testing and the Rush to Perfection 27
heart, respiratory, or hearing issues, childhood 

leukemia, thyroid conditions, and Alzheimer’s 

disease. As treatments have been developed 

and more children with Down syndrome receive 

appropriate treatment, the expected life span 

for people with Down syndrome has increased 

significantly from 25 years in 1983 to 60 years 

today.18 While Down syndrome occurs among 

all races and ethnicities, research has shown 

disparities such that the survival rate beyond 

infancy is lower for black children with Down 

syndrome than for non-Hispanic white children.19

Down syndrome is the most common 

chromosomal condition, affecting an estimated 

1 in every 700 babies born in the United States, 

or approximately 6,000 babies per year.20 The 

potential for having a fetus with Down syndrome 

increases with maternal age, and pregnant 

women over 35 years of age routinely undergo 

at least a NIPS as part of their maternal care. 

If NIPS shows that a fetus has an increased 

likelihood of having Down syndrome, then a 

more conclusive diagnostic test is recommended 

and can be performed as early as 15 weeks into 

the pregnancy; earlier use of the test usually 

carries increased risk of miscarriage or harm to 

the fetus. Nonetheless, 80 percent of babies 

with Down syndrome are born to younger 

women simply because most babies are born 

to women under 3521 and testing for Down 

syndrome is far less routine in this age group. 

Tests such as amniocentesis have been used 

for five decades to indicate whether a fetus has 

Down syndrome,22 but “[n]either screening nor 

diagnostic tests can predict the full impact of 

Down syndrome on a baby; no one can predict 

this.”23 This is true for many genetic conditions 

that can have a wide range of expression from 

mild to severe. Down syndrome advocate groups 

also emphasize that however the condition 

manifests, “[q]uality educational programs, 

a stimulating home environment, good health 

care and positive support from family, friends 

and the community enable people with Down 

syndrome to lead fulfilling and productive lives.”24

The prevalence of Down syndrome means 

that there are more parents of children with 

Down syndrome than with other health 

conditions detectable by genetic analysis. More 

affected families mean more Down syndrome 

advocacy and support groups to both provide 

accurate information about what living with Down 

syndrome looks like and to push for accurate 

tracking of information about babies born with 

Down syndrome, in the United States and 

internationally. The impact over time of genetic 

analysis, as well as social and economic context, 

on a specific disability community such as those 

living with Down syndrome thus becomes a 

useful stand-in for how genetic analysis affects 

the lives of people with many different genetically 

linked health conditions.

Accuracy, Prenatal Testing, 

and Live Births of Babies with 

Down Syndrome

Numerous sources, including the Centers for 

Disease Control and Prevention and advocacy 

organizations, state that the absolute number of 

births of babies with Down syndrome in the 

United States is approximately 6,000 a year. 

However, the estimate is based on the findings 

from a study published in 2010 which used 

2004–2006 surveillance data gathered in the 

National Birth Defects Prevention Network, to 

update a study that originally used 1999–2001 

findings.25 This is important because in 2007, the 

American College of Obstetricians and 

28 National Council on Disability
Gynecologists (ACOG) issued Practice Bulletins 

No. 77 and 88, which recommended that less 

invasive new screening procedures for Down 

syndrome, involving nuchal translucency 

measurement and maternal serum analysis, 

should be offered to all pregnant women, and 

not only to women of “advanced maternal age” 

(35 years of age and older).26 The question of 

whether the new Bulletins, which guides the 

standard of practice of American obstetricians 

and gynecologists, actually led to identifiable 

changes in how and when women receive 

prenatal testing for, and information about, Down 

syndrome cannot, 

therefore, be answered 

by looking at the updated 

study that used 

2004–2006 findings.

Another, more recent 

study used a variety 

of datasets to derive 

the nonselective and 

live birth prevalence 

of babies with Down 

syndrome in the United 

States from 1900 to 

2010.27 This study places the annual rate of live 

births of babies with Down syndrome at 5,300 

in the years 2006–2010, and an estimated rate 

of Down-syndrome-related elective pregnancy 

termination at 30 percent. While this study 

provided more updated information for the years 

immediately following the issuance of the ACOG 

2007 Practice Bulletins, it did not capture the 

impact of the newer noninvasive prenatal screens 

(NIPS), which came on the US market in 2011 

and use a simple first trimester blood draw from 

a pregnant woman to determine the likelihood 

that a fetus carries a copy of the Down syndrome 

[T]he American College of 

Obstetricians and Gynecologists 

(ACOG) issued Practice Bulletins 

No. 77 and 88, which recommended

that less invasive new screening 

procedures for Down syndrome 

should be offered to all pregnant 

women, and not only to women of 

“advanced maternal age” 

chromosome. However, this latest study could 

be useful in establishing baseline information 

with which to compare future research into live 

birthrates and selective abortions for Down 

syndrome. Such future research is needed to 

evaluate not only the 2011 commercial availability 

of NIPS as a key change, but also the influence 

of additional factors such as further professional 

practice bulletins issued by ACOG,28 affiliations 

between commercial laboratories and genetic 

counselors, and federal and state laws that 

require disability-related information in genetic 

counseling (these last two factors will be 

further discussed in the 

following chapters).

The above discussion 

illustrates the difficulty 

of making conclusive 

statements on how 

developments in the 

field of prenatal genetic 

analysis affect the 

choices and behavior 

of pregnant women 

and outcomes for 

communities with 

specific genetic conditions or disabilities. Data 

collection, research, and professional guidance 

tend to lag behind technology, and in some 

cases, data on specific disabilities may not be 

available at all.

Nonetheless, there is data on Down syndrome 

that raises urgent concerns. A 2017 Healthline

article pronounced that “nearly 100 percent of 

women in Iceland who receive a positive test for 

Down syndrome choose to terminate the 

pregnancy.”29 From this first statistic, the author 

concludes that “[d]ue to abortions, only one or 

two babies with Down syndrome are born each 

Genetic Testing and the Rush to Perfection 29
year in Iceland.”30 Pregnancy termination rates of 

98 percent for Denmark, 77 percent for France, 

and 67 percent for the United States are also 

provided. It is not possible, however, to 

extrapolate the number of live births of babies 

with Down syndrome from a statistic about 

women who receive a diagnostic test for Down 

syndrome in their fetus. Not every woman who 

carries a fetus with Down syndrome, and 

ultimately gives birth to a 

baby with Down 

syndrome, undergoes a 

prenatal diagnostic test 

for Down syndrome. 

Some women may 

choose not to have 

prenatal genetic 

screening, such as NIPS, at all. Some woman 

may agree to a screening, and then decide not to 

proceed with an actual prenatal genetic test such 

as amniocentesis or chorionic villus sampling, 

two common prenatal genetic tests that provide 

a more conclusive finding of Down syndrome but 

also carry a greater risk 

of harm to the fetus. In 

the United States, where 

more women are also 

giving birth at an 

advanced maternal age, 

and accounting for the rate of miscarriages that 

statistically occur with Down syndrome, all of 

these factors together indicate that the number 

of women who proceed to a live birth of a fetus 

with Down syndrome has fallen by a number 

closer to 30 percent rather than 90 percent.31

Even among those women who obtain a prenatal 

diagnosis of Down syndrome in the fetus, a 2012 

review of 24 existing studies concluded that the 

abortion rate was 67 to 82 percent rather than a 

Pregnancy termination rates of 

[fetuses with Down syndrome] of 

98 percent for Denmark, 77 percent 

for France, and 67 percent for the 

United States are also provided

“For me, it’s just faces disappearing,” 

as one mother of a daughter with 

Down syndrome put it

previously reported 92 percent, and noted that 

rates varied between the United States and 

international studies,32 as well as regionally within 

the United States.33

Accurate reporting and thinking about the 

consequences of prenatal genetic testing are 

important. Their absence gives rise to charges 

of exaggeration and can lead the public to 

simply dismiss the legitimate feelings and 

eugenic fears of Down 

syndrome self-advocates 

as well as their families. 

Hyperbolic claims are 

also more likely to 

fuel different sides 

of a highly politicized 

abortion debate, while 

failing to acknowledge the individuality of 

people with Down syndrome, the complexity of 

their lives, the variety of their circumstances, 

and how much remains unknown after a 

prenatal test indicates that a fetus is likely 

to have Down syndrome. Nonetheless, a 

30 percent reduction 

remains a significant 

and serious quantitative 

impact on the Down 

syndrome community 

that is bolstered by 

qualitative conversations as well. “For me, it’s 

just faces disappearing,” as one mother of a 

daughter with Down syndrome put it.34

The Situation of Iceland

In Iceland, parents of children with Down 

syndrome are deeply discouraged by the reports 

of a 90 percent abortion rate because it bolsters 

their own belief about what is happening in 

providers’ offices. Tamara Pursley, the Programs 

30 National Council on Disability
and Partnerships Director at the National Down 

Syndrome Congress (NDSC) and the parent of 

a child with Down syndrome, describes NDSC’s 

work translating into Icelandic informational 

materials and pamphlets on Down syndrome for 

prospective parents. Pursley describes a small 

number of people in Iceland who have children 

with Down syndrome, and says that they do work 

to promote awareness about the condition, but 

were not particularly receptive to the translated 

US materials. They thought the information was 

accurate and useful. Nonetheless, they thought 

the resources would be useless since “most 

doctors don’t care” and will just encourage 

termination of the pregnancy if genetic testing 

detects Down syndrome. On the other hand, 

Ms. Pursley reports that adult Down syndrome 

self-advocates in Iceland have become popular 

memes on social media as they try to encourage 

acceptance of Down syndrome and speak up 

for themselves.35 The situation in Iceland also 

directly raises the additional complicating factor 

of how the larger culture, generational shifts, and 

fluctuating social attitudes about genetic analysis 

itself inevitably affect decisions about having a 

child with Down syndrome or any other type of 

intellectual disability.

A small island on the Northern edge of Europe, 

Iceland’s “population remained isolated and quite 

homogeneous until recently.”36 In 1990, only 

4 percent of Iceland’s population was foreign-born,

but by 2017 the proportion had risen to 11 percent 

of the country’s population of almost 340,000. 

Furthermore, as recently as the 1980s, 70 percent 

Genetic Testing and the Rush to Perfection 31
of immigration to the island was from other Nordic 

countries and the United States.37 With such 

limited immigration “since the Norsemen first 

settled here in the 9th Century,” the genetic 

“purity” of Iceland’s small population makes it 

“much easier for scientists to isolate faulty genes 

than it is in larger multi-ethnic countries such as 

Britain or the United States. Iceland also has a 

database containing the genealogy of the entire 

nation dating back 1,100 years.”38 Against this 

backdrop, deCODE, Iceland’s leading genetics 

company, has already gathered over one-third of 

Icelander’s genetic information in its database, and 

is aggressively seeking 

additional voluntary swab 

samples to double its 

count.39 Salvor Nordal, 

Director of the Ethics 

Faculty at the University 

of Iceland, said that the 

country has never really 

had a “proper debate” 

about the uses to which 

genetic information 

should be put or whether individuals should be 

notified of their specific genetic analysis. The lack 

of a national conversation seems even more 

necessary given that, even without testing every 

single person:

[t]hey can fill in the missing gaps,” says 

Nordal. “DeCODE has collected so much 

information that we might become the first 

nation to be genome sequenced. Now it 

becomes much more than asking questions 

about an individual’s privacy—we are talking 

about group privacy . . . and whether we 

can be discriminated against as a member 

of that group.40

The privacy and discrimination 

concerns .. are exacerbated f

some by the fact that deCODE 

is not a charitable, academic, or 

government enterprise, but a private 

entity that is owned by Amgen, an 

American biotech company

The privacy and discrimination concerns raised 

by Nordal are exacerbated for some by the fact 

that deCODE is not a charitable, academic, or 

government enterprise, but a private entity that is 

owned by Amgen, an American biotech company. 

Dr. Kari Stefansson, deCODE’s director, asserts 

pure motives: “Keep in mind my only goal—it is 

not manipulating the human genome but finding 

out which variant genes . . . are behind the 

common diseases of man.”41 Iceland’s lawmakers 

were apparently convinced of that since deCODE 

had been granted default access to every 

Icelander’s health records until a woman sued 

the company in 2003 on 

grounds of privacy, to 

prevent its acquisition 

of her deceased father’s 

records. DeCODE must 

now obtain individual 

consent before gaining 

access to medical 

records. Getting that 

permission may not, 

however, be a problem 

for many Icelanders, as genetic testing and 

handing over the results has already become 

a part of the culture. One author conducted an 

informal survey in a university cafeteria and most 

people indicated that they had already willingly 

given samples of their DNA to deCODE, even 

though giving samples is no more mandated in 

Iceland than in other countries. One man stated 

that he had “a family member with a genetic 

condition who has suffered a lot,” asking, “Why 

should he suffer a lot if we know we have 

information that can help him? What is it to do 

with privacy?”42

The fact that one-third of Iceland’s population 

has voluntarily contributed DNA to a private 

32 National Council on Disability
biotech entity may not be replicable in other 

countries.43 Prenatal genetic testing is also not

the same as genetic analysis performed on adult 

DNA and raises a different set of ethical, social, 

and legal implications. Nonetheless, Icelandic 

cultural attitudes about health and illness, the 

value of diversity, the value of the individual, and 

the social impact of discrimination are likely to 

also underlie how people in other countries 

understand and expect genetic analysis of all 

kinds to be used.

Professor Nordal’s questions about “group 

privacy . . . and whether we can be discriminated 

against as a member 

of that [genetically 

identified] group” are 

the very questions 

that people with Down 

syndrome and other 

genetic conditions have 

been forced to grapple 

with in both prenatal 

and postnatal contexts 

ever since the initiation 

of the Human Genome 

Project. The essence of 

discrimination is being 

treated reductively and differently because of a 

personal characteristic, in this case, a genetic 

characteristic. There are some who insist that 

genetic analysis and manipulation is about getting 

rid of diseases or health conditions, not people, 

but inevitably those same conditions manifest 

in living persons. Disability rights advocates 

have long argued that when genetic testing 

has the primary goal or even the unintended 

consequence of discouraging the birth of people 

with disabilities, there is a negative impact on 

both those who are already living with disabilities 

Disability rights advocates have 

long argued that when genetic 

testing has the primary goal or 

even the unintended consequence 

of discouraging the birth of people 

with disabilities, there is a negative 

impact on both those who are 

already living with disabilities and 

those who give birth to and raise 

children with disabilities

and those who give birth to and raise children 

with disabilities.44 As one mother of a 2-year-old 

with Down syndrome says, “If all these people 

terminate babies with Down syndrome, there 

won’t be programs, there won’t be acceptance 

or tolerance. I want opportunities for my son. 

I don’t know if that’s right or wrong, but I do.”45

This viewpoint has been characterized as selfish 

or misguided for apparently “wishing disability” 

on other babies, or lacking actual evidence that 

links lower numbers to diminished services.46

Nonetheless, it is worth noting that a core 

tenant of disability rights law is the fundamental 

importance of people 

with disabilities entering 

mainstream life, to 

see and be seen as 

fully integrated rightsbearing citizens. An 

increasingly small 

and isolated disability 

community is not only 

subject to reduced 

services and supports, 

it also risks proliferation 

of false assumptions 

and stereotypes about 

disability that can only be dispelled by genuine 

interaction between those with and without a 

wide range of disabilities.

The Issue of Abortion: How 

Decisions Are Made and Who 

Is Supposed to Help

Another problem with using a bald statistic about 

a 90 percent reduction in births is that it tends 

to lead to a polarizing debate about abortion 

that, for many disability advocates, is not the 

point. Pursley emphasizes that the key point is 

Genetic Testing and the Rush to Perfection 33
to communicate the kind of life that someone 

with Down syndrome can have. She says 

“[o]ur big position is . . . we’re not pro-life or 

pro-choice . . . we’re pro-Down syndrome.”47 And 

finally, it will be extremely difficult to assess the 

impact of new genetic technologies, commercial 

marketing, provider practices, cultural influences, 

and regulatory action without an accurate 

baseline of data that reveals where gaps and 

limitations in knowledge exist. The anecdotes 

will continue and have their own value, but do not 

replace data.

The search for accurate information inevitably 

leads to complicated conclusions. As the new 

prenatal screening tests are becoming standard 

practice, it will be important to move beyond the 

reporting of numbers to a closer examination of 

the complex factors behind the numbers. One 

obstetrician posits multiple factors to consider 

before assuming that the number of births of 

babies born with Down syndrome may be going 

up or down. These factors include the racial/

ethnic background of women having babies, 

the extent to which professional guidance on 

prenatal genetic testing has expanded to more 

women, and possible changes in the pre-existing 

inclinations of women who are now being 

tested.48

The most important factor for Down 

syndrome births in particular may be a “sea 

change in society’s approach to individuals with 

Down syndrome.”49 J. L. Natoli, lead researcher 

for the paper that found lower rates of abortion 

for fetuses diagnosed with Down syndrome 

than first reported, notes that “from a social 

standpoint, women of childbearing age are from 

perhaps the first generation who grew up in an 

era where individuals with Down syndrome were 

in their schools or daycare centers—perhaps 

not the mainstream integration that we see 

today, but still a level of exposure that was very 

different than in generations prior. They grew up 

watching kids with Down syndrome on Sesame 

Street.”50 These observations notably posit a 

direct connection between the reproductive 

decisions made by women, and observable 

changes in society that have been wrought by 

disability rights laws such as the Individuals with 

Disabilities Education Act and the Americans 

with Disabilities Act of 1990, which operate to 

integrate people with disabilities into society 

and stop the unnecessary institutionalization of 

people with disabilities. Other original research 

highlights the multiple demographic and cultural 

factors that play a role in the prenatal screening 

and diagnostic testing decisions made by 

women, showing “findings that older maternal 

age, greater socioeconomic status, identification 

with particular races and religions, decreased 

strength of religious beliefs, and prior experience 

with genetic testing correspond to willingness 

to contemplate abortion.”51 This last study chose 

to administer surveys to the general public, 

rather than only women of child-bearing age, 

recognizing that various members of society may 

not wish to, or be able to, bear a child, but “still 

influence prenatal decision-making via complex 

interpersonal, social, cultural, and political 

relationships.”52

The various themes that have been raised in 

this close examination of prenatal genetic testing 

in the context of Down syndrome resound 

throughout the remainder of this study. The kinds 

of discriminatory attitudes and stereotypical 

assumptions encountered by a woman carrying 

a fetus with an elevated chance of having Down 

syndrome are shared by women who carry 

fetuses with other markers of disability. They are 

34 National Council on Disability
experienced as well by women with disabilities 

who are pregnant or considering having children. 

Dr. Kara Ayers is the Associate Director of the 

University of Cincinnati Center for Excellence 

in Developmental Disabilities and a person with 

osteogenesis imperfecta (OI). She is also a 

strong advocate for disability rights and described 

one of her own genetic counseling experiences:

The most negative interaction I had 

occurred with a resident in training who 

briefly saw me at age 22. The appointment 

was somehow related to the rare genetic 

type of OI that I have but I don’t remember 

how it was intended to serve me in any 

way. I took the opportunity to ask questions 

about my choices around parenting. The 

counselor drew the tree to explain I’d have 

a 50/50 chance of passing on OI. I knew 

enough to know that I needed to add my 

partner also had OI. She looked confused 

but drew a different tree explaining our 

75% odds of passing on OI. The resident 

asked how my other family members 

felt about me considering pregnancy. I’m 

not sure why but I told him that my mom 

was opposed to the idea. He responded, 

“If I were your parents, I’d do whatever 

it took to get you to consider adoption.” 

I remember thinking that he must have 

known something about my medical 

likelihood of a successful pregnancy that 

he wasn’t telling me. It took a few years, 

but I eventually realized that his statement 

was entirely based on his attitudes around 

passing on a genetic condition.53

Ayers and her partner currently have two 

biologically related children, neither of whom 

has OI, and one son, adopted at age 7, who 

has achondroplasia. They undertook prenatal 

diagnostic testing for their first biological child 

because “we were very fearful of double 

dominance,” but “also looked at genetic 

testing as a way to prepare. There would be 

different types of equipment we’d need with 

a baby with OI (and parents with OI). We’d 

need to consider OI in thinking about childcare, 

plans for travel, and many aspects of getting 

ready for the baby . . . we generally expected 

to have children with OI. For our first, however, 

we were just more nervous and wanted to 

know.”54 Ayers says that “I didn’t experience 

any pressure, but I also was very proactive 

in expressing that our family takes pride in 

disability. We had no plans to terminate on the 

basis of disability.”55 When asked about useful 

advice given by the genetic counselor after 

the ambivalent test results from her chorionic 

villus sampling (CVS) test, Ayers says “I didn’t 

receive any advice other than some general 

support that these decisions are difficult. I really 

looked to my friends who are also parents with 

OI and other genetic conditions. I don’t feel 

like professionals who aren’t disabled really 

have perspective on the complexities when you 

identify as disabled and could also be having 

a child with that disability—especially when it 

involves some painful aspects.”56

Overall, Ayers had a positive experience with 

prenatal genetic testing, but that is likely 

attributable in part to the fact that she has a 

visible genetic disability herself and is a strong 

self-advocate. She acknowledges that she feels 

“very conflicted about genetic counseling 

because I know it has a mixed history with our 

disability community. At the same time, I saw 

exploring these options as my responsibility as a 

Genetic Testing and the Rush to Perfection 35
parent, especially if it could improve the 

outcomes, our response, etc. to our child.”57

Ayers insightfully notes how her own use and 

experience of prenatal 

genetic counseling, as a 

woman with a disability 

who did not plan to 

terminate her pregnancy, 

likely differed from 

women who don’t have 

disabilities or the genetic 

condition for which a 

fetus carries the marker:

When I think about this experience from 

the perspective of someone learning 

their child has my condition, but they’ve 

“When I think about this experience 

from the perspective of someone 

learning their child has my 

condition, but they’ve never heard 

of it, I’m reminded of the major 

missing piece: any connection to 

actual people with the diagnosis.

never heard of it, I’m reminded of the 

major missing piece: any connection to 

actual people with the diagnosis. The 

social aspects of 

functioning—how 

do people work 

with OI? Live in 

their community? 

Go to school? Have 

families? What 

do they think of 

their quality of life? 

There should be 

more referrals to 

other people in the community—which to 

me, means a greater need for communitybased support.58

36 National Council on Disability
Chapter 2: The Influence of Technological Advances

Noninvasive Prenatal Screening—

The Game Changer

Chapter 1 looked at multiple factors 

that influence the impact of genetic 

technology on people with disabilities, 

and the complexity of how these factors 

interact, using data and analysis on the lives 

of people with Down syndrome and their 

families. Unfortunately, most of this data does 

not measure the specific impact of noninvasive 

prenatal screening (NIPS) on the birthrates of 

people with Down syndrome or any other genetic 

condition. Data on birth rates of people with 

disabilities is not made available in real time. 

Instead this section will focus on qualitative 

research looking at the attitudes, experiences, 

and decisions of women who undergo NIPS and 

prenatal genetic tests, and the providers who 

give varying amounts of genetic counseling pretest, post-test, or at both time periods.

It would be hard to overstate the degree to 

which NIPS has altered how genetic testing 

and analysis is done. For women, the ease of a 

virtually risk-free blood draw from the mother 

is infinitely easier to undergo, physically and 

psychologically, than an invasive procedure that 

extracts genetic materials from the womb and 

places the fetus at risk. Furthermore, NIPS can 

be performed early in a pregnancy, at 9 weeks, 

giving women options ranging from planning 

fun “gender reveal” parties to terminating a 

pregnancy before anyone else even knows 

about it. This compares to 15 weeks, which is 

the earliest point at which an amniocentesis 

can be performed with less risk to a fetus, 

at which point a woman is already well into 

the second trimester of pregnancy. As an 

essentially unregulated product, women who 

are pregnant or hope to be pregnant learn about 

NIPS not only when their healthcare provider 

raises the topic of genetic analysis, but when 

they search for information online. Commercial 

laboratories have developed a plethora of directto-consumer marketing that is often focused 

on all women, not just women who have risk 

factors for having a fetus with a chromosomal 

condition. NIPS laboratories frequently offer one 

tab for healthcare professionals and another for 

expectant parents.59 The professional tab leads to 

more technical information and urges providers 

to use a particular laboratory, while the parent 

tab urges women to discuss NIPS with their 

providers. Even though NIPS does not provide 

the certainty of genetic diagnostic tests such as 

amniocentesis or chorionic villus sampling, it has 

established a high rate of accuracy and few false 

positives when used to assess the chances of a 

fetus having Down syndrome.60

Genetic Testing and the Rush to Perfection 37
As one of the first companies to develop the 

ground-breaking NIPS technology, Sequenom 

was initially focused on a blood test that would 

achieve the results of amniocentesis without 

the risks. That is, the company primarily sought 

a simple and effective way to evaluate the 

presence of the chromosomal characteristics 

for Down syndrome, but it also recognized that 

the technology could lead to testing for other 

“chromosomal abnormalities.”61 Sequenom 

was the highest performing California stock 

in 2007 and 2008, with a meteoric increase in 

stock price from $4.70 on opening day 2007 to 

$22.76 by September 2008.62 Given the very 

significant potential 

for profit, as well as 

the kind of renown 

that would come with 

developing a new 

diagnostic biotech 

tool that appeals to 

prospective parents, 

Sequenom and its rival 

companies have quickly 

moved to expand the 

possible conditions 

that can be captured 

by NIPS.

The discovery in 2012 of the capacity to 

“map” a fetus’s entire genomic makeup rather 

than just conduct a targeted search for genetic 

markers associated with specific chromosomes 

or DNA has opened up additional realms of 

scientific and financial potential, as well as ethical 

and practical dilemmas. As one science reporter 

observed in 2014:

. . . whole genome sequencing could 

provide parents with an avalanche of 

unexpected and perhaps confusing 

data. Instead of targeted tests for a 

few dozen genes, future sequencing 

techniques could provide parents with 

three billion base pairs of data. The key 

issues inherent in any genome sequence 

work would plague fetal sequencing as 

well—namely, there is no guarantee that 

genetic mutations will actually result in 

a specific disease. And grappling with 

information suggesting that certain 

conditions may emerge in adulthood, 

or studying mutations with unclear 

significance, could be fraught with risks 

and challenges—

impacting parents’ 

decision threshold for 

deciding to terminate 

a pregnancy or 

influencing how they 

rear their child.63

Fast forward to 2019, 

and we have gained 

additional scientific and 

technological advances 

but are seemingly no 

closer to resolving the larger ethical dilemmas 

that were raised years ago or figuring out a 

way to clearly communicate those dilemmas to 

prospective parents and society at large. So 

many different questions are raised, from 

those that center on what the tests actually 

provide, to concerns about the social justice 

and legal ramifications depending on how tests 

are distributed and how much they cost, to 

what happens to the genetic information 

derived from the tests, and whether and how 

tests should be incorporated into the 

Advances in prenatal genetic 

testing keep raising the same 

fundamental question: How does 

more and more fetal genetic 

information, and particularly 

information that is not complete, 

fully accurate, or consistently 

predictive, actually help women 

make informed choices .

38 National Council on Disability
medical standard of care. As another reporter 

stated:

Makers of those tests, though, are 

already pushing the technology beyond 

its recommended uses to flag a rapidly 

expanding list of the unborn’s potential 

genetic flaws. But these bigger and 

bigger menus of genetic testing also 

come with less and less information 

about how predictive the data they reveal 

actually is. . . . As companies amass 

these valuable stockpiles of prenatal 

DNA, should there be limits to how much 

data they can report 

back to prospective 

parents? And what 

about people without 

the means to join 

in the genetic data 

sprint to the womb?64

If the two passages 

above, separated by over 5 years, sound similar, 

it’s because they are similar. Advances in 

prenatal genetic testing keep raising the same 

fundamental question: How does more and 

more fetal genetic information, and particularly 

information that is not complete, fully accurate, 

or consistently predictive, actually help women 

make informed choices about continuing or 

terminating a pregnancy? This, in turn, leads 

to the fundamental question that prenatal 

genetic testing raises for many in the disability 

community: How do we make room amidst the 

flood of genetic information to share knowledge 

on the lived experience of disability and raising 

a child with disabilities? Many women and their 

partners, including the middle- to upper-class 

How do we make room amidst 

the flood of genetic information 

to share knowledge on the lived 

experience of disability and raising 

a child with disabilities? 

white women of child-bearing age who primarily 

populate the ranks of genetic counselors 

over the past couple of decades,65 have little 

personal experience with disability. How do 

pregnant women who are on the receiving end 

of increasing options for prenatal testing feel 

about the information they receive from that 

testing, who advises them on what their various 

results and “risk factors” mean, and how do 

they evaluate whether to be tested or which 

tests to take in the first place? And one final 

question that all of society must collectively 

consider: Does our ongoing social, ethical, and 

legal failure to fully grapple with and resolve the 

hard questions raised 

by technical advances 

in genetic testing and 

manipulation place 

individual women under 

the crushing burden 

of being our default 

decision makers, even 

as they are given fewer 

opportunities for thorough conflict-free counsel 

on increasingly complex and unknown genetic 

options? An increasing body of qualitative 

research on women who are receiving or who 

have received genetic counseling suggests 

an affirmative response to this last question. 

The issue of how “changing nothing” places a 

growing burden on women is a theme in this 

study and will continue to be raised in different 

contexts in subsequent chapters.

One survey of pregnant women relied on over 

550 survey responses received over a 3-month 

period in 2017. The women were all patients at a 

large maternity hospital. They were asked to 

consider undergoing whole genome sequencing 

and discussing their preferences and reasons for 

Genetic Testing and the Rush to Perfection 39
receiving different categories of genomic results. 

In their surveys:

■ Respondents were most likely to want 

information regarding serious treatable 

childhood-onset conditions (89.7 percent) 

and least likely to want to receive 

information about nonmedical traits from 

prenatal whole genome sequencing 

(40 percent).

■ The reason given most often for wanting 

medical prenatal whole genome sequencing 

results was “to prepare financially, medically, 

or psychologically for a child with special 

needs.”

■ 10.5 percent of 

respondents overall 

wanted clear 

recommendations 

from clinicians 

about the categories 

of information 

that are most 

appropriate to test for, 44.7 percent wanted 

clear recommendations plus all options 

presented, 26.2 percent wanted all options 

presented and joint decision making, and 

13.2 percent wanted all options presented 

and independent decision making.66

Another study, noting that the very low rate 

of false positives achieved when cell-free DNA 

(cfDNA) is used for Down syndrome screening, is 

not replicated when cfDNA screening is used for 

a range of other chromosomal and microdeletion 

syndromes, interviewed 40 recently pregnant 

women who received cfDNA NIPS results 

indicating a high risk of a chromosomal condition, 

a false positive, or inconclusive results.67

NIPS is not regulated by the federal 

Food and Drug Administration 

(FDA). That is due to a matter of

historical treatment of LDTs, not an 

issue of lack of jurisdiction

One-third of the participants would not choose to 

have cfDNA screening for additional pregnancies, 

and another one-third would only choose 

screening under particular circumstances or if 

they could limit the scope of the panel of tests. 

The women reported experiencing problems 

with the clinical interaction when screening is 

first offered, when results are reported, and 

when information is sought about false positives. 

Ultimately, many of the women interviewed 

“reported feeling misled by the information they 

received prior to accepting cfDNA screening or 

receiving their results. . . . These reports suggest 

that inadequate pretest discussion contributes 

to women’s experience of decisional regret 

after receiving high 

risk, false positive, or 

inconclusive results.”68

Reproductive decision 

making is always difficult 

and any woman may 

experience regret even 

after making a decision 

that she feels was the 

right one. But emotions experienced because of 

a pregnancy or terminating a pregnancy is not 

the same as regret that arises specifically out of 

prenatal genetic testing where a woman may feel 

she didn’t understand the test, didn’t have help 

interpreting the results, or wishes she had not 

acted on the results.

Regulation of NIPS

NIPS is not regulated by the US Food and Drug 

Administration (FDA). That is due to a matter 

of historical treatment of laboratory-developed 

tests (LDTs), not an issue of lack of jurisdiction. 

Currently, NIPS is part of the larger category 

of LDTs. In general, LDTs are developed 

40 National Council on Disability
and patented by a single laboratory, which is 

then also the entity that builds a market for 

the product and applies the test to samples 

that are sent to it. The FDA has the authority 

to regulate LDTs, but for the most part has 

historically exercised “enforcement discretion,” 

and has not generally applied premarket or 

other regulatory requirements to LDTs.69 The 

Centers for Medicare and Medicaid Services 

(CMS) oversee laboratories and LDTs under the 

Clinical Laboratory Improvement Amendments 

program.70

There is a crucial distinction between analytical 

validity and clinical validity. Analytical validity 

questions whether a test consistently and 

accurately measures 

what it is supposed to 

detect. Clinical validity 

questions whether the 

measured change results 

in an increased risk or 

likelihood of having an 

identifiable medical 

condition.71 Clinical 

validity could be considered the application of an 

abstract biological relationship to real life. CMS 

only looks at analytical validity, and only in the 

context of a single laboratory that is already in 

business.72 When CMS conducts its routine 

biennial surveys of Sequenom, Illumina/Verinata, 

Natera, Ariosa, or any other prenatal screening 

laboratories that have joined these “first four” 

laboratories, CMS determines that one particular 

laboratory conducts its LDT in safe conditions 

that enable the laboratory to reliably state that it 

found and measured chromosomes present in 

what is usually cell-free placental DNA.73 By 

contrast, the FDA conducts premarket clearance 

and approval procedures that examine both 

Genetic testing is not a maternity 

vitamin. There is no direct scientific

or statistically established causative 

link between genetic testing and 

healthy pregnancies

analytical validity and clinical validity. That is, the 

FDA would determine whether a NIPS accurately 

measures what it is supposed to, going into 

greater scope and depth, and whether that 

measurement reliably and consistently conveys 

the likelihood of a fetus having a specific genetic 

condition.74

The FDA’s enforcement discretion regarding 

LDTs means that there is no federal oversight 

or consequences when a company like Invitae 

claims on its website that genetic testing 

“helps make healthy pregnancies possible.”75

Genetic testing is not a maternity vitamin. 

There is no direct scientific or statistically 

established causative link between genetic 

testing and healthy 

pregnancies. When a 

company asserts that 

“carrier screening is 

recommended for all 

individuals who are 

pregnant or planning a 

pregnancy”76 it not only 

neglects to say who is 

doing the recommending,77 it also implies to 

consumers that a carrier screen will not merely 

identify chromosomes and microdeletions in 

one’s DNA but can positively identify the health 

outcomes that will arise out of that genetic 

inheritance. The FDA’s current enforcement 

scheme allows such a claim to stand, although 

it comes close to, or crosses the line, between 

analytical validity and clinical validity.

The status quo of not actively regulating due 

to enforcement discretion was potentially going 

to change several years ago after the House 

Energy and Commerce Committee’s 

Subcommittee on Health held a hearing on 

September 9, 2014, into the FDA’s proposed plan 

Genetic Testing and the Rush to Perfection 41
to change its policy on regulating LDTs. However, 

new regulation of LDTs, including prenatal 

genetic tests, “has yet to take place due to the 

complexity of the task at hand,” according to the 

National Human Genome Research Institute’s 

website.78

The FDA has identified problems with a 

number of LDTs, including claims that are not 

adequately supported by evidence, lack of 

appropriate controls yielding erroneous results, 

and in a few cases, falsification of data.79 These 

problems demonstrated a need for greater FDA 

oversight to assure both analytical and clinical 

validity of LDTs relied on by physicians and 

patients.80 In response, 

the FDA drafted guidance 

that addressed how it 

intended to regulate 

LDTs and verify their 

analytical and clinical 

validity, but unfortunately, 

it was not issued. The 

FDA informed NCD that 

it has been very active in 

this area and continues 

to engage with Congress to find a legislative 

solution, but its decision not to issue guidance 

or regulations on the rapidly expanding NIPSs 

market, and other LDTs, is troubling, particularly 

in light of unified industry actions that push 

for changes such as greater public and private 

insurance coverage of LDTs (see next section).

The only other federal agency that has 

what is currently a peripheral role in regulating 

NIPS is the Federal Trade Commission (FTC). 

According to the FTC, the agency has general 

jurisdiction “to prevent fraudulent, deceptive, 

and unfair business practices in the marketplace 

and to provide information to help consumers 

The FDA informed NCD that it 

continues to engage with Congress 

to find a legislative solution, but 

its decision not to issue guidance 

or regulations on the rapidly 

expanding NIPSs market, and other 

LDTs, is troubling 

spot, stop, and avoid them.”81 When it comes to 

genetic testing, the FTC primarily warns against 

the use of “direct-to-consumer” tests that 

consumers order and pay for entirely on their 

own, rather than prenatal genetic tests that 

generally require referral through a healthcare 

provider. Nonetheless, their web page has 

consumer advice that applies equally to prenatal 

genetic tests, such as “[a]sk your doctor or 

a genetic counselor to help you understand 

your test results” and “[g]enetic test results 

can be complex and have serious implications. 

It’s a bad idea to make any decisions based 

on incomplete, inaccurate, or misunderstood 

information.”82 The FTC 

does not appear to have 

directly considered 

prenatal genetic testing 

companies. The directto-consumer marketing 

undertaken by these 

companies means that 

the FTC’s expertise and 

watchdog functions are 

needed more than ever, 

as the prenatal genetic testing field becomes 

increasingly saturated and competitive.

The Booming Business of 

Babies and Marketing NIPS

NIPS is a product developed and sold by 

commercial laboratories. Providers may approach 

prenatal genetic screening as a healthcare issue, 

people with disabilities may view it as a 

community and ethics issue, women’s rights 

groups may understand it as a privacy rights 

issue, and lawmakers and lawyers may see it as 

a policy and regulatory issue. From a business 

point of view, NIPS is about investment, market 

42 National Council on Disability
share, competition, sales strategy, and lobbying. 

In 2012, a year after the first test hit the market, 

four companies offered the service. Today there 

are more than 40, and global revenues for the 

industry are expected to exceed $2.5 billion by 

2025. Earlier this month, at an international 

meeting of reproductive scientists in Paris, the 

inventor of NIPT, Dennis 

Lo, told the audience that 

6 million women from 90 

countries have so far 

been screened. Some 

experts say it is the most 

rapidly adopted test 

ever.”83 Professor Henry Greely, the Deane F. and 

Kate Edelman Johnson Professor of Law at 

Stanford Law School, predicted in early 2011 that 

if the uptake of NIPS among women nationally 

reflected the use of NIPS among women in 

California, which offers a robust statewide 

prenatal screening and testing program that 

covers various modes of testing, the number of 

fetuses tested through NIPS would increase from 

less than 10,000 to 3 million.84 Such a startling 

increase “would produce a heretofore 

unimaginable wave of women struggling to 

understand their tests, 

the implications of a 

positive result, and how 

to proceed.”85 Professor 

Eric Topol at the Scripps 

Research Institute 

estimated that 800,000 

women in the United States had a NIPS in 2014, 

saying, “That’s a lot—about 20% of the 4 million 

total babies born each year.”86 Three million, 

nonetheless, pales in comparison to the potential 

market of all women of childbearing age, or at 

least, the estimated number of women who 

would consider having a child. A report from the 

US Census Bureau found that as of June 2012, 

“75.4 million women in the United States were 

aged 15 to 50, and 59 percent of them 

were mothers.”87

As commercial entities seek to build a larger 

market for NIPS, marketing materials and 

websites operated by 

NIPS laboratories have 

become increasingly 

sophisticated in their 

presentation. As noted 

by author and poet, 

Georges Estreich, there 

is both a soft focus and a presumptive underpin 

when it comes to disability. He wrote:

To convince people to adopt the test, you 

have to accomplish a number of things. You 

have to downplay any risk associated with 

the test itself. You have to establish the 

test as a “scientific” thing to do—hence 

the recommendations from professional 

organizations (some of which actually 

caution against misuse and overuse of the 

test, though the companies tend to ignore 

those passages), 

plus all the numbers, 

graphs, and general 

science-y feel of the 

websites. And you 

have to highlight 

the risk of not using 

the product. You establish a happy world 

on the product side, and a sad, anxious 

world on the not-product side, and then it’s 

clear where the consumer should go. . . . 

Expanding a market is both a persuasive 

and an interpretive act. It involves a delicate 

... 6 million women fr

90 countries have so far been 

screened. Some experts say it is the

most rapidly adopted test ever

Professor Eric Topol at the Scripps 

Research Institute estimated that 

800,000 women in the United States 

had a NIPS in 2014 

Genetic Testing and the Rush to Perfection 43
balance between stigma and acceptance. 

If the condition is too stigmatized, 

people won’t willingly admit they have it; 

conversely, if it’s accepted as a normal part 

of being human, then people won’t buy 

treatments for it.88

In an earlier piece, Estreich, who has a 

daughter with Down syndrome, closely analyzed 

the websites of some of the major companies 

that provide NIPS, and found numerous implicit 

messages about the lives of people with 

disabilities:

It’s not that I think 

these tests shouldn’t 

exist, or that women 

shouldn’t have access 

to them—or the 

abortion they might 

lead to. It’s more 

that in the process 

of selling the tests, 

the companies distort 

or obscure the lives 

of those with the conditions tested for. 

As a result, the values they project are at 

odds with the values I, like many people 

across the political spectrum, have come 

to hold: that, for example, true peace of 

mind comes from accepting a child for 

who she is. That we should lower the wall 

between “abnormal” and “normal,” not 

raise and reinforce it. That disability should 

be represented accurately and fully, that 

we shouldn’t take the disability for the 

person, and that we should listen to the 

way persons with disabilities represent 

themselves.89

Researchers of online marketing have also 

noted the unique fact that, “unlike the case 

for other prenatal genetic tests, industry has 

had an important role in the development and 

introduction of NIPT.”90 With both patients and 

healthcare providers increasingly using the 

Internet as a research and resource tool, it is 

significant that popular Internet search engines 

all include the commercial NIPS websites in the 

first three pages when a search is conducted 

for “non-invasive prenatal testing.”91 After 

members of this research team independently 

evaluated and coded each commercial 

laboratory’s website, the team concluded that 

there was a real need 

for “clear, consistent, 

and evidence-based 

materials to educate 

patients and healthcare 

providers about the 

current and emerging 

applications of 

NIPT.” 92 In particular, 

most websites 

were inconsistent 

in providing accurate information about 

sex chromosome aneuploidies (SCA) and 

chromosomal microdeletions. This is worrying 

in the context of SCA because most people 

have less knowledge of SCA, and healthcare 

providers are less aware of the physical and 

cognitive characteristics associated with SCA, 

which may prompt them to put greater reliance 

on the commercial website information. For 

microdeletions, the researchers noted that at 

the time of investigation:

. . . clinical practice guidelines do not 

recommend the general use of NIPT for the 

Six US genetic testing companies 

have joined together to form the 

Coalition for Access to Prenatal 

Screening (CAPS), a lobbying 

organization that “seeks to improve 

access to state-of-the-art prenatal 

screening .

44 National Council on Disability
detection of microdeletions. Yet, three of 

the laboratories presented information on 

their websites about their specific 

platform’s ability to detect certain 

microdeletions. The differences among the 

laboratories’ microdeletion offerings and 

educational resources may be a reflection of 

market incentives for commercial NIPT 

laboratories to provide large and unique 

testing platforms before competing 

laboratories do (references omitted).93

In addition to inconsistencies with regard to 

the substantive scientific information presented, 

the research team found 

inconsistent references 

to such core legal 

concepts as informed 

consent. Only three 

of the five commercial 

laboratories offered 

information about 

informed consent, and 

only one of the three 

offered information 

to both providers and 

patients. Of the remaining two, one laboratory 

offered the information to patients only, while 

the other offered information to providers 

only. Unfortunately, there was consistency 

in at least one aspect: “None of the website 

content provided by the commercial laboratories 

addressed personal values and ethical 

considerations as they relate to the decisionmaking process for NIPT.”94

While marketing is an area where the 

growing number of commercial genetic testing 

companies are in competition, as each company 

attempts to promote the predictive strength 

CAPS’ presentation was titled 

“Access and Disparity Challenges 

for Non-Invasive Pre-Natal 

Screening.” The invocation of

healthcare access disparities in the 

presentation title implicitly places 

NIPS among medically necessary 

treatments and services

of its own testing platform, there is one area 

where at least some commercial laboratories 

are in close cooperation. Six US genetic testing 

companies have joined together to form the 

Coalition for Access to Prenatal Screening 

(CAPS), a lobbying organization that “seeks 

to improve access to state-of-the-art prenatal 

screening using cfDNA-based NIPS that is easily 

accessible to all pregnant women who choose 

to pursue aneuploidy screening, regardless of 

their risk factors, income, age or geographic 

location.”95 CAPS is actively working on outreach 

to lawmakers to achieve legislative changes 

and encourage reimbursement coverage of 

NIPS. For example, on 

March 18, 2019, CAPS 

held a policy briefing at 

the Washington State 

Capitol, sponsored by the 

Women in Government 

Foundation, which, for 

$12,000, will help recruit 

state lawmakers and 

staff to attend a meal 

and panel presentation 

offered by industry 

or other groups on a specific policy topic at a 

state capital.96 CAPS’ presentation was titled 

“Access and Disparity Challenges for NonInvasive Pre-Natal Screening.” The invocation of 

healthcare access disparities in the presentation 

title implicitly places NIPS among medically 

necessary treatments and services. It would 

be difficult to even raise questions about NIPS 

clinical validity, federal and state oversight, 

informed choice, ethical considerations, or the 

absence of information about the real lives of 

people with disabilities when the framing is 

neatly focused on how some women are unfairly 

Genetic Testing and the Rush to Perfection 45
excluded from using NIPS. In the Washington 

briefing, CAPS sought support for coverage of 

NIPS in Washington’s state Medicaid program.

Stephanie Meredith, the founder of Lettercase 

and the mother of a child with Down syndrome,97

vividly recounted a similar industry “framing” 

experience when she attended a prenatal 

molecular diagnostic conference in September 

2018. Meredith was at the conference to help 

commercial laboratories understand how they 

could help balance medical information on their 

websites by including resources that show what 

it is like to live with various genetic conditions 

and disabilities. She attended a session where 

one panelist, an investor in NIPS technology, said 

“It was unfortunate that 

invasive chromosome 

microarray testing was 

not expanded to the 

entire population right 

away, because at “three 

thousand a test, all four 

million pregnancies would cost $12 billion, but 

even with a 50% termination rate, would save 

$19 billion in estimated medical costs . . . and so 

many other costs families bear.” [Meredith’s 

paraphrase.] After the presentation, one woman, 

an obstetrician-gynecologist, spoke up to the 

panel of four men, saying that they could not just 

assume these kinds of savings because you can’t 

just assume that women would undergo invasive 

testing and terminate pregnancies. The response 

from the investor, according to Meredith, was 

agreement that he couldn’t and wouldn’t make 

women do anything, but the smart thing for them 

to do would be to choose invasive testing, and he 

estimated half would terminate. Meredith found 

this exchange memorable for both the woman’s 

courage in speaking up and the panelist’s 

Industry has driven the demand for 

noninvasive genetic testing, and 

shaped much of the narrative about 

the product

dismissal of her comment as irrational, as 

evidenced by the fact that it contradicted 

economic sense, including his own personal 

financial interest. Meredith was also deeply stung 

by the power this investor wielded, almost as a 

casual afterthought, over the lives of people with 

disabilities when he likely had little or no personal 

knowledge of the lived experience of disability.98

Power is another emerging theme that 

permeates this issue and one that is central to 

the revolutionary role of NIPS as a catalyst in the 

field of prenatal testing. Industry has driven the 

demand for noninvasive genetic testing, and 

shaped much of the narrative about the product. 

Commercial laboratories wield economic power 

and lobbying power, and 

with those come 

outsized influence over 

legislators and the 

professional bodies that 

update medical 

standards. The disability 

community has the power of narratives and lived 

experience, but all too often lacks sufficient 

support to broadcast its narratives and 

knowledge to policymakers, medical 

professionals, and most importantly, the women 

who are ultimately responsible for making 

informed choices. A review of NIPS led by 

Dr. Christina Lockwood of the University of 

Washington in Seattle concluded that “NIPS is 

only a screening test. This means that, while a 

negative result can rule out the need for further 

testing, a positive result should not be acted on 

until confirmed with invasive testing.” 

Lockwood’s group recommends that all patients 

undergoing NIPS receive pre-test and post-test 

counseling to ensure they understand this, as 

well as to help with overall interpretation of 

46 National Council on Disability
complicated NIPS results.99 Genetic counseling 

is recognized as a critical step for women 

considering or undergoing prenatal genetic 

testing, but in practice, and for various reasons, 

genetic counseling and the presence of genetic 

counselors cannot be considered a kind of 

“magic bullet” that, through their mere 

presence, will enable women to make fully 

informed and ethical decisions for themselves.

Genetic Counselors—A Profession 

Caught in the Middle

In the 2-year prenatal genetic testing 

project initiated by Parens and Asch, the 

only full consensus 

recommendations 

centered on genetic 

testing and the 

key role of genetic 

counselors.100 The 

group recommended 

both disability training 

and education for 

genetic counselors, 

and disability-related 

education content for 

genetic counseling.101 In the two decades that 

have passed, there has been some action on 

those recommendations but not a broad national 

move toward, or even conversation about, how 

to consistently implement disability training and 

education for genetic counselors, or ensure that 

users of prenatal genetic testing receive clear, 

reliable information about disability. Worse yet, 

industry changes, and especially the market 

incentives brought about by NIPS, now raise 

additional issues of potential conflicts of interest 

and lack of transparency for genetic counselors 

as they are increasingly directly employed by the 

According to the US Bureau of Labor 

Statistics’ Occupational Outlook 

Handbook, there were 3,100 jobs 

for genetic counselors in 2016, 

and employment “is projected to 

grow 29 percent from 2016 to 2026, 

much faster than the average for all 

occupations.

very commercial entities that succeed by selling 

genetic testing.102

According to the US Bureau of Labor 

Statistics’ Occupational Outlook Handbook, there 

were 3,100 jobs for genetic counselors in 2016, 

and employment “is projected to grow 29 percent 

from 2016 to 2026, much faster than the average 

for all occupations.”103 Genetic counselors can 

work generally or with narrower populations in 

particular topic areas, such as assisted 

reproductive technology, prenatal testing, 

pediatric testing, or specific adult areas such as 

oncology, cardiovascular, or neurology. The 

supply of certified genetic counselors is 

expected to increase 

72 percent, to 6,562 

between 2017 and 2026, 

but this demand 

projection was limited 

“to only those certified 

genetic counselors in 

direct patient care, as 

this group comprises 

approximately 65 percent 

of the overall certified 

genetic counselor 

population,” even though industry makes up the 

next largest group of employers.104 At a rate of 

one certified genetic counselor per 100,000 

persons, supply will meet demand by 2026, but a 

more generous model of care of one counselor 

per 75,000 would push satisfaction of demand 

out to 2029 or 2030.105 The focus on meeting the 

demands of direct patient care does not appear 

to consider how biotechnology can influence both 

patient demand for genetic counseling as well as 

the degree to which industry could assume a 

greater proportional role as an employer of 

genetic counselors. In other words, “neither of 

Genetic Testing and the Rush to Perfection 47
[the] demand models account for largescale 

exogenous factors, such as the introduction of 

blockbuster tests and changes in commercial/

public reimbursement,” even though “[t]here are 

approximately 60,482 genetic testing products on 

the market and an average of 8 to 10 new 

products enters the market every day.”106 Of 

course, not all of the new products are prenatal 

genetic testing products, but prenatal genetic 

testing is integrally part of a rapidly expanding 

industrial field.

Katie Stoll, a certified genetic counselor with 

15 years of experience in prenatal, pediatric, and 

adult genetics, currently 

works in Washington 

State and has written on 

the conflict of interest 

issues that arise for 

genetic counselors who 

work with industry. 

Stoll’s concerns rise 

from what she sees as 

a core conflict between 

the profession’s historical 

roots in the 1950s and 

1960s, a time when the 

public was increasingly 

rejecting explicit eugenics laws and beliefs in the 

United States while also gaining awareness and 

support of women’s reproductive autonomy,107

and the thriving job market for genetic counselors 

offered by an industry that attracts capital and 

shareholders through increasing the use of 

genetic testing. If a genetic counselor’s highest 

professional standard is to protect women’s 

autonomy and informed decision making, as 

well as the unique choices that families make 

for themselves, then how can this purpose 

be completely unaffected when the genetic 

If a genetic counselor’s highest 

professional standard is to protect 

women’s autonomy and informed 

decision making, .. then h

can this purpose be completely 

unaffected when the genetic 

counselor is directly employed by 

a for-profit entity that markets its 

patented tests as part of a medical 

“gold standard” of care .

counselor is directly employed by a for-profit 

entity that markets its patented tests as part of 

a medical “gold standard” of care and reminds 

providers that they can be liable as a matter of 

medical negligence108 for failing to discover or tell 

a patient about discoverable health conditions? 

As Stoll and others have written:

Uncertain information from many 

complex genetic tests can find some 

patients unprepared, so that results are 

devastating rather than empowering. Labs 

touting their “simple” and “trusted” tests 

encourage obstetrical 

care providers 

to recommend 

genetic testing to 

their patients by 

promising that genetic 

counseling is included. 

What may be lost 

in connecting with 

genetic counselors 

through these 

polished, pro-testing 

websites, however, 

is nuanced, informed 

decision-making about whether to undergo 

a particular test in the first place.109

Stoll has seen the industry appear 

increasingly at professional conferences and 

commercial laboratories and place more and 

more job postings. She says “we are losing 

independently employed genetic counselors 

very quickly, and genetic counselors who 

work for the companies have a job of selling 

the tests.”110 As Stoll notes, “there is a big 

difference between 45 to 60 minutes of 

48 National Council on Disability
counseling to unearth how a woman or couple 

feels about testing and the results that can 

come from it, and 5 to 10 minutes of counseling 

after a test has been taken and unexpected 

results arise.” Stoll also notes how new genetic 

counseling graduates, mostly young women, 

may take these jobs without acquiring wider or 

more diverse genetic counseling experience first 

and simultaneously having little life experience 

of people living with the genetic conditions they 

studied in textbooks, or much understanding 

of disability rights or disability objections to 

the reflexive use of prenatal genetic testing to 

deselect fetuses with disabilities.

Natera, one of the first companies offering 

NIPS, has multiple videos on its website aimed 

at potential parents. Upon entering the patient 

services portal, the first menu tab offers 

“resources,” which comprise several videos 

under the heading “Learn from our team of 

genetic counselors.”111 Most of the six videos 

are less than a minute, with “Should I have 

prenatal genetic testing” the longest at 1 minute, 

13 seconds. In the video, a personable young 

woman paints a picture of how women fall into 

three groups when it comes to prenatal genetic 

testing: one group that chooses not to know 

anything and refuses all tests, and one group 

that undergoes invasive diagnostic tests with 

the risk of miscarriage because they must know 

everything for certain. The third group, which is 

“the vast majority of women” according to the 

speaker, choose NIPS because this test “can 

provide information about specific conditions 

in the pregnancy, but does not involve taking 

a risk of miscarriage for the pregnancy.”112 This 

juxtaposition of most women who choose NIPS 

and those few who choose not to test invites 

the viewer to identify with the sensible majority. 

The video is as notable for what is not said 

as for what is said. The young women all look 

confidently into the camera and speak in terms 

of choice, benefit, and information, but nothing is 

said about how a patient is supposed to choose 

what to test the fetus for, what the test results 

could show, and the further likelihood of invasive 

testing should the NIPS results indicate a chance 

that a fetus carries genetic conditions. There is 

no mention of how individual values, fears, and 

family expectations will all likely come into play 

because decisions about what to do after a NIPS 

screening are not dictated purely by science and 

medicine. All is simple.

The 37-second “How can I find out the gender 

of my baby?” video describes “a simple blood 

test” at 9 weeks gestation that “will give you a 

risk assessment for chromosome abnormalities 

and also will tell you [here the young woman’s 

voice slows, she breaks into a smile and her 

eyes twinkle] whether you are having a boy or 

a girl.”113 Natera offers appointment slots if a 

parent has further questions, but this is exactly 

when a genetic counselor who is also a good 

Natera employee could, without any malice 

or conscious intent, steer a potential patient’s 

questions toward what a test means, how it’s 

done, and how it works, rather than questions 

about whether a particular women with no risk 

factors should be undertaking the test in the 

first place or how she can prepare herself for 

the results. After the gender video, for example, 

the first likely questions would be “What 

are chromosome abnormalities?” and “How 

common are their risks?” rather than “Can’t I just 

find out the gender of my baby without the other 

stuff?”

The potential conflicts of interest for genetic 

counselors have been observed for several 

Genetic Testing and the Rush to Perfection 49
years. On the Natera site, it is, at least, obvious 

that the counselors in the videos are part of the 

Natera team. That clear connection may be 

missing for patients who discover that “some 

counselors offering them advice in hospitals and 

doctors’ offices work for the commercial genetic 

testing companies, not for the hospitals or 

doctors themselves.”114 LabCorp is the parent 

company to a laboratory that, in 2012, had 

placed over 140 genetic counselors hired by the 

lab at over 200 service locations, mostly 

working in prenatal testing.115 A LabCorp 

spokesman indicated that the counseling 

service was only an add-on to the testing and 

counselor salaries were 

independent of how 

many tests were 

ordered. On the other 

hand, “some doctors 

and executives in the 

testing business say 

LabCorp needs a certain 

volume of testing to 

justify placing a 

counselor in a doctor’s 

office. And the genetic 

testing industry certainly perceives that those 

counselors help bring testing to LabCorp.”116

One rival lab began hiring genetic counselors to 

place in prenatal clinics because “You can’t 

compete if you don’t go in and do it.”117 The 

competition factor could apply even if the 

counseling was completely neutral, but 

providers and clinics come to regard counseling 

as a valuable add-on that frees them from 

having to hire their own genetic counselors. 

However, this leads to a further negative impact 

on the genetic counseling profession as major 

public insurers such as Medicare and Medicaid, 

as well as private insurers, have begun to pay 

for genetic testing in some circumstances but 

“are less likely to pay for the counseling 

sessions, sometimes lasting an hour or longer, 

that can precede and follow such testing. Most 

states do not license genetic counselors, and it 

can be hard for a nonlicensed practitioner to 

obtain reimbursement.”118 The more laboratories 

present genetic counseling with genetic testing 

as part of a bundled service, the less likely it is 

that insurers will come to regard counseling in 

and of itself as a valuable and distinct 

reimbursable healthcare service.

Many of the genetic counselors hired by 

laboratories do not, in 

fact, deal directly with 

patients, working instead 

with doctors who are 

still the ones who order 

the tests. However, 

this fact exposes how 

laboratories can unduly 

influence genetic testing 

standards themselves, 

with more far-reaching 

consequences than 

merely influencing testing decisions made by one 

woman at a time. Professional societies such as 

ACOG issue guidance on the appropriate tests to 

conduct, but these are only guidelines and new 

tests are being developed all the time. Some 

counselors who are embedded in a hospital or 

clinic may subtly or overtly campaign for standard 

panels to be expanded simply because the test 

exists and has analytical validity. “Dr. Richard 

Fischer, chairman of maternal fetal medicine 

at Cooper University Hospital in Camden, NJ, 

while saying he was pleased overall with the 

LabCorp counselors, said that he [had] to resist 

[M]ajor public insurers such as 

Medicare and Medicaid .. ha

begun to pay for genetic testing in 

some circumstances but “are less 

likely to pay for the counseling 

sessions, sometimes lasting an hour 

or longer, that can precede and 

follow such testing

50 National Council on Disability
the company’s counselors to offer a test to all 

pregnant women that was not recommended 

by ACOG.”119

Conflict of interest issues raised for genetic 

counselors have not necessarily reached a level 

that impugns actual patient care provided by 

genetic counselors employed by commercial 

laboratories, but larger questions of systemic 

influence and priming NIPS as an intrinsic 

component of a professional standard of care is 

equally concerning to the disability community. If 

counselors themselves are uneasy with being 

“pawns in the marketing scheme”120 of corporate 

entities, people with genetic conditions find 

themselves cast in a similar role, but without pay. 

People with disabilities 

and parents of people 

with disabilities can feel 

that the commercial NIPS 

laboratories offer tests on 

the risk of living lives 

with disabilities, while 

failing to offer any 

context to counteract 

existing social and cultural stereotypes and 

prejudice concerning disability. Genetic 

counselors potentially offer a counter to the 

operation of stereotypes and prejudice. This 

cannot be the case, however, if proliferating 

for-profit entities rely on a two-prong marketing 

strategy that implicitly sells NIPS as a means of 

avoiding disability and employs genetic 

counselors to affirm NIPS as a gold standard of 

medical care.

Genetic Counselors and Disability

Given the potential linchpin role of the genetic 

counselor in preserving informed choice and 

autonomy, what do genetic counselors have to 

If counselors themselves are uneasy 

with being “pawns in the marketing 

scheme” of corporate entities, 

people with genetic conditions find 

themselves cast in a similar role, 

but without pay

learn about disability? According to the most 

recent accreditation standards for graduate 

genetic counseling programs in the United 

States, as adopted by the Accreditation Council 

for Genetic Counseling on February 13, 2013, 

the answer is not very much.121 The 27-page 

document, which covers all aspects of 

accreditation from administration to curriculum 

to student evaluations and appeals procedures, 

mentions disability twice. The first time is to 

indicate that accredited programs cannot 

discriminate on the basis of listed personal 

characteristics, including “disabling status.” The 

second mention is to include “disability 

awareness” and seven other categories, 

including multicultural 

sensitivity and 

competency, within a 

category of psychosocial 

content that itself is one 

of nine “general content 

areas required to support 

the development of 

practice-based 

competencies in genetic counseling.” It is 

unclear whether the general content area is 

directed at equipping counselors to 

communicate with diverse patients rather than 

educate them about the lives of diverse 

patients. The standards do indicate that the 

competencies are a floor, and there are other 

subcategories of content such as health 

disparities, genetic discrimination, and related 

legislation under the “social, legal, and ethical” 

content area, or the delivery and evaluation of 

educational tools and materials under the 

“education” content area, where disabilityrelated topics could be raised. But if a genetic 

counseling program did not have a pre-existing 

Genetic Testing and the Rush to Perfection 51
intention to provide its students with a 

grounding in disability awareness and rights, 

there is nothing in the current accreditation 

curriculum that would foster such an 

understanding.

Katie Stoll graduated from Brandeis’s genetic 

counseling program in 2003 and recalls it as 

one of the rare programs that was initiated 

with a broader understanding of disability than 

just the characteristic for which genetic testing 

determines a risk. The program was founded 

not by a genetic counselor, but by a biologist 

who was also the parent of a child with a 

genetic condition/disability. Both the curriculum 

and the practicum 

requirements had 

disability components 

and students had 

multiple contacts with 

children and adults with 

disabilities, conducted 

interviews, and wrote 

a reflective paper. Stoll 

recalls being “matched” 

with an adult who was 

living with a genetic condition, and only realizing 

much later that it was coincidentally the same 

condition that a couple of relatives had in her 

own extended family; she had never thought of 

them as having a disability or herself as someone 

experienced with disability. In addition, Adrienne 

Asch, one of the very few bioethicists who was 

also a person with a disability and a disability 

advocate, taught at Wellesley College “just down 

the road, and was periodically invited to guest 

lecture in the program.” Stoll recalls that lecture 

as a challenging and seminal experience in her 

genetics counseling education. Asch believed 

strongly that genetic counseling, while it should 

But if a genetic counseling program 

did not have a pre-existing intention 

to provide its students with a 

grounding in disability awareness 

and rights, there is nothing in the 

current accreditation curriculum that 

would foster such an understanding

not be directive, could and should involve genuine 

counseling, and help women and their partners 

to determine for themselves what they sought 

in having children, their expectations for family 

life, what they were prepared to sacrifice, and 

the rewards they expected. Perhaps in her talks 

at Brandeis she said something akin to the 

following:

It is crucial that prospective parents are 

offered both information about disability 

and the opportunity to explore the values, 

desires, fears, and dreams that enter 

into deciding what to do with prenatal 

genetic information. 

Equally important is 

that, in accordance 

with the ethic of 

genetic counseling, 

professionals 

who make such 

offers honor both 

acceptances and 

refusals of these 

offers.122

Unfortunately, not every genetic counseling 

program is as committed to fostering disability 

awareness. When asked about the extent 

of their disability-specific education, two 

genetic counseling graduates who chose not 

to be named, respectively 4 and 8 years out 

of different schools, each felt their training 

had fallen short in some measure. The first 

had come to genetic counseling from an 

existing healthcare background and described 

“exposure to individuals with a wide range of 

disabilities” via a mandatory 5- week clinical 

rotation at a home for adults with disabilities, 

52 National Council on Disability
but still wished that more coaching on how 

to communicate with people with disabilities 

or families of people with disabilities had 

been provided.123 The second graduate had 

spent 4 years being a 

nanny for a child with 

developmental and 

intellectual disabilities 

and attended a genetic 

counseling program 

that had provided a 

“broad overview” of 

disability, but felt others 

in the program who 

lacked such an in-depth 

experience would have 

benefited from “a day in 

the life” type experiences or stories.124 The first 

graduate estimated that perhaps 25 percent 

of the disability information provided in the 

program was written or taught by people with 

disabilities.

Genetic counselors could therefore 

be expected to have no more particular 

understanding of the 

social model of disability 

or disability rights than 

any member of the 

public, even though they 

are expected to counsel 

that same public about 

the significance of living 

with disability. There is 

limited research on the 

beliefs and attitudes that 

genetic counselors hold toward people with 

disabilities, but a 2011 article that examined 

multiple studies on the topic found that 

genetic counselors make substantially different 

prenatal testing decisions for themselves 

than the decisions of the general public.125 For 

instance, 96 percent of counselors undertook 

invasive genetic diagnosis, not NIPS, when 

they had a risk factor 

such as advanced 

maternal age, and 76 

percent of counselors 

with no indication for 

prenatal diagnosis 

would nonetheless 

choose invasive prenatal 

testing.126 Even more 

striking, a survey of 

different professions 

showed that 52 percent 

of genetic counselors 

chose invasive prenatal diagnosis during their 

own pregnancies; this compares with 5 percent 

for nurses and 7 percent for high school biology 

teachers.127 None of the studies, however, 

explored counselors’ reasons for their decisions, 

nor the choices that counselors made upon 

receiving their fetus’s diagnosis. For example, 

genetic counselors may 

particularly value the 

ability to prepare for the 

birth of a child with a 

genetic condition.

The above studies 

focused on testing 

decisions that genetic 

counselors make for 

themselves as a proxy 

for their attitudes 

toward disability and as a way to avoid the social 

desirability bias.128 Studies based on practice 

behavior provide additional insight into disability 

beliefs among genetic counselors. For instance,

Genetic counselors could therefore 

be expected to have no more 

particular understanding of the 

social model of disability or 

disability rights than any member 

of the public, even though they 

are expected to counsel that same 

public about the significance of 

living with disability

[A] survey of different professions 

showed that 52 percent of genetic 

counselors chose invasive prenatal 

diagnosis during their own 

pregnancies; this compares with 

5 percent for nurses and 7 percent 

for high school biology teachers

Genetic Testing and the Rush to Perfection 53
An analysis of 93 transcripts of simulated 

prenatal genetic counseling visits from the 

Genetic Counseling Video Project [Roter 

et al., 2006] found that 95% of genetic 

counselors talked about the biomedical 

aspects of Down syndrome compared to 

26% who described social aspects of life 

with Down syndrome [Farrelly et al., 2010]. 

When discussing options available to a 

client if a fetus were diagnosed with a 

disability, among the 93 genetic counselors 

whose transcripts were analyzed 86% 

mentioned pregnancy termination, 37% 

continuation of pregnancy and 13% 

adoption [Farrelly 

et al., 2010]. The 

majority (61%) of the 

prenatal counselors 

who participated in the 

Genetic Counseling 

Video Project had 

more than 5 years of 

experience in genetic 

counseling. . . .129

The authors of the 

meta-study conclude by suggesting “multiple 

ways that genetic counselors, on individual and 

organizational levels, can examine and strengthen 

the relationship between the genetic counseling 

and disability communities,” while also continuing 

“the profession’s support of reproductive 

freedom and access to prenatal genetic testing 

opportunities.”130

Genetic Counseling in Uncharted 

Territory

While this chapter primarily addresses NIPS, the 

genetic analysis techniques used in NIPS can 

When discussing options available 

to a client if a fetus were diagnosed 

with a disability, among the 

93 genetic counselors whose 

transcripts were analyzed 86% 

mentioned pregnancy termination, 

37% continuation of pregnancy and 

13% adoption

and are continually being advanced toward 

increasingly complex predictive operations, as 

well as potential combination with other 

techniques such as preimplantation genetic 

diagnosis (PGD), in-vitro fertilization (IVF), and 

genetic engineering. Brave or not, a new world 

has arrived with staggering implications for 

people with and without disabilities. Late last 

year, Genomic Prediction, a US company 

announced that it now had a test that could 

screen embryos who potentially had a low IQ.131

A test of intelligence is much more complex 

than the single cell chromosome tests used to 

screen for Down syndrome and related genetic 

conditions. Intelligence 

involves multiple regions 

of DNA/cells and the 

resulting findings may 

have analytical validity 

but are much less 

indicative of specific 

real-life results. The 

company was reportedly 

already in talks with IVF 

clinics to make the test 

available to 

consumers.132 Company cofounder Stephen 

Hsu, for ethical reasons, has decided not to offer 

the test for selecting embryos with a high IQ for 

implantation, but apparently feels no 

compunction about offering “the option of 

screening out embryos deemed likely to have 

‘mental disability’.”133 The test “isn’t accurate 

enough to predict IQ for each embryo, but it can 

indicate which ones are genetic outliers, giving 

prospective parents the option of avoiding 

embryos with a high chance of an IQ 25 points 

below average,” says Hsu.134 He also didn’t rule 

out making the test available for high 

54 National Council on Disability
intelligence screening in the future, reasoning 

that if he doesn’t do it, someone else will, 

whether in the United States or elsewhere.135

As with the intelligence test, we have the 

ability to screen for an increasing array of 

conditions, but the 

clinical validity of 

the genetic anomaly 

is often less clear, 

as is the specific 

manifestation of the 

health condition. When 

considering something 

such as the gene for 

breast cancer or many 

other conditions, how 

the gene will express itself over time is not 

necessarily known. How does one help guide a 

woman toward actionable choices when she is 

being told that a fetus has a certain percentage 

chance of developing a “mild to severe” form of 

a health condition that may or may not manifest 

during a person’s lifetime? What if these options 

are replicated for multiple kinds of conditions or 

traits in a given fetus? The resulting information 

can be confusing and paralyzing to many 

women and couples. If 

the potential for human 

germline engineering 

is thrown in, there is 

the additional need to 

consider the implications 

of genetic tinkering that 

will change humanity’s 

overall genetic heritage. 

Reporting on the intelligence test noted this 

point as well, observing that “we don’t yet fully 

understand what other effects the many genes 

involved in traits like a higher intelligence or lower 

How does one help guide a woman 

toward actionable choices when 

she is being told that a fetus has 

a certain percentage chance of 

developing a “mild to severe” form 

of a health condition that may or 

may not manifest during a person’s 

lifetime?

In a competitive for-profit testing 

market, commercial entities are 

neither inclined nor expected 

to voluntarily exhibit humility 

concerning what they don’t know 

about their tests 

risk of heart disease might have. For example, 

some studies have suggested that people with 

higher polygenic scores for academic ability are 

also more likely to be autistic.”136 Other writers 

observe that the genetic condition that results 

in sickle cell anemia also 

provides protection against 

malaria”137 There have also 

been discoveries of rare 

and desirable human traits 

linked to a known gene that 

“was previously assumed 

to be a ‘junk’ gene that was 

not functional.”138

In a competitive forprofit testing market, 

commercial entities are neither inclined nor 

expected to voluntarily exhibit humility 

concerning what they don’t know about their 

tests, including the impact of tinkering with a 

fetus or embryo’s genetic makeup, for that 

individual fetus or for future generations. Just 

how much help can a genetic counselor be? In 

future scenarios, the existing technologies of 

IVF and PGD are combined with the nascent 

technologies of next-generation sequencing

(NGS) and “Easy PGD” 

so as to enable the 

generation of literally 

hundreds of embryos. 

Large scale sequencing 

of all these embryos 

would provide a woman 

and her partner detailed 

genetic information on 

each embryos’ chances of expressing a range of 

physical health conditions, intellectual 

disabilities, and personal characteristics, 

temperaments, and capacities. In such an 

Genetic Testing and the Rush to Perfection 55
overwhelming scenario, genetic counselors and 

other providers are turning to algorithms to 

evaluate the “best” embryo to implant. But as 

pointed out by critics, an algorithm “may be 

worse than the problem it tries to solve by 

routinizing reproductive decisions based on 

hidden biases, reducing societal diversity, 

exacerbating ‘choice overload effects,’ 

challenging professional norms, and raising the 

specter of eugenics.”139 These tools are created 

using certain assumptions about what most 

people view as socially valuable and good. 

Algorithms can hide all kinds of negative 

assumptions about disability and health that 

people with disabilities would dispute, backed 

up by lived experience.

One potential result 

of the rapid development 

and proposed use 

of polygenic genetic 

analysis is that it places 

more and more people 

on “the wrong side of 

the genetic tracks” as 

it were. Whereas the default assumption of 

the medical profession and the general public 

is that genetic testing and engineering should 

be applied to disability, the broad potential 

application of such technologies to “normalize” 

or even “improve” all human beings has led 

many more to question what it is that we are 

trying to “fix” or “cure.” Back in 2007, when 

NIPS or noninvasive prenatal genetic diagnosis 

(NPGD) was thought to be just around the 

corner, some authors applauded the chance to 

“experience enormous savings as a result of 

One potential result of the rapid 

development and proposed use of 

polygenic genetic analysis is that 

it places more and more people 

on “the wrong side of the genetic 

tracks” as it were

the decrease in severely ill babies.”140 But at 

the same time, they recognized how easily the 

technology could lead to a slippery slope:

Might NPGD be utilized to prevent the birth 

of children with less severe disorders (e.g., 

an extra finger, bowed legs, cleft palate)? 

With merely the potential to develop a 

disorder (e.g., 40% chance of breast cancer, 

60% chance of Alzheimer’s disease)? With 

merely undesirable traits (e.g., propensity 

for obesity) or for selecting the sex of their 

child? Or parents with disorders such as 

dwarfism or deafness who want to abort a 

healthy fetus in favor of raising a child that 

is more like them? 

With clinical NPGD 

lurking just around 

the corner, the issue 

of the “slippery 

slope” will become 

especially pressing, 

necessitating a full 

and frank discussion—

with representatives from all sides of 

the debate—of the many weighty issues at 

stake.141

In the decade since the above words were 

written, there have been numerous attempts 

to hold full and frank discussions on prenatal 

genetic testing, but from the viewpoint of the 

disability community, those discussions have, 

for the most part, been incomplete, lacking the 

presence of people living with disabilities and 

genetic conditions.

56 National Council on Disability
Chapter 3: Healthcare System Pressures and 

Legal Protections and Gaps

Brief Overview of the US 

Healthcare System

T

he US healthcare system includes a 

complex mix of providers, a diverse 

range of entities that deliver and/or 

administer healthcare services or products 

(increasingly comprised of large and growing 

for-profit corporations),142 both public and 

private health insurance programs, and federal 

and state laws, regulations, and policies that 

may affect all of these players. Professional 

bodies police the 

behavior and ethics 

of any given health 

profession, but often, 

there is considerable 

deference given to 

individual education 

and training programs. 

Studies have found 

great variance among 

genetic counseling training programs accredited 

by the ACGC with respect to disability, with 

programs giving the subject anywhere from 

10 to 600 hours.143 Given this wide range 

of training, genetic counselors and primary 

prenatal providers likely devote minimal or 

no time to informing parents of the kinds of 

post-birth supports, services, and futures 

available to a child with disabilities. Since 

genetic counselors are relatively rare, primary 

caregivers such as practicing obstetricians 

typically try to fit counseling sessions within 

the time slots given in clinical practice. Other 

healthcare providers lack the specialized 

training that genetic counselors have received 

on both the science of genetics and intricacies 

of nondirective counseling. This means that 

professional genetic counseling can be largely 

absent where a NIPS kit has been ordered by 

a provider, sent from 

the lab, returned for 

analysis, and the results 

sent to the provider and 

patient. In this scenario, 

“Dr. Google” and the 

laboratory’s marketing 

materials may be the 

only resources readily 

available to prospective 

parents who do not know how to interpret 

or understand the implications of the genetic 

testing results. The risk of misunderstanding is 

heightened by the fact that such testing results 

are, in many cases, not a “diagnosis” but only 

an analysis of a fetus’s increased risk of having 

genetic anomalies associated with certain 

health conditions.

Studies have found great variance 

among genetic counseling training 

programs accredited by the 

ACGC with respect to disability, 

with programs giving the subject 

anywhere from 10 to 600 hours

Genetic Testing and the Rush to Perfection 57
For-profit pressures already tend to place a 

premium on the amount of time that providers 

spend with individual consumers, and managed 

care entities and private insurers have a vested 

interest in trying to attract consumers without 

disabilities who are viewed as having fewer care 

needs. For-profit systems, as well as public 

healthcare programs subject to budget 

pressures, may discourage the kind of in-depth 

conversations about living with disability that 

women who receive genetic testing results may 

want or need. Moreover, it can be expensive to 

meet the ongoing healthcare needs of 

individuals with chronic conditions and 

disabilities, compared with what is spent on 

“healthy” individuals. These pressures can lead 

providers, and especially obstetricians and 

primary care providers, 

to be more directive in 

urging patients to take 

prenatal genetic tests 

and terminate 

pregnancies if genetic 

testing indicates the presence or probability of 

a disability.

In addition, providers who conduct genetic 

testing are likely to hold the same beliefs about 

the quality of life and limitations of people with 

disabilities that are held by other healthcare 

providers as revealed in various studies. For 

example, 18 percent of emergency room 

providers such as nurses, residents, attending 

physicians, and technicians said they would 

be glad to be alive after a spinal cord injury, 

compared to 92 percent of people who are 

spinal cord injury survivors who said they 

had a good quality of life.144 Not surprisingly, 

only 22 percent of the providers surveyed 

indicated that they would want to be treated 

[P]roviders’ vocabulary choice and 

assumptions about next steps can 

profoundly affect their patients

with “everything possible to ensure survival” 

after a spinal cord injury. A more recent study 

of pediatric residents found that 71 percent 

questioned giving aggressive treatment to 

children with severe disabilities.145 In the 

genetic context specifically, there are similar 

studies/observations as providers’ vocabulary 

choice and assumptions about next steps can 

profoundly affect their patients. Doctors “can 

influence the decision by using phrases such 

as ‘I’m sorry,’ or ‘I have some bad news to 

share.’ For instance, 34% of Dutch women who 

terminated their pregnancy after a Down’s [sic] 

syndrome diagnosis said that their doctors did 

not even mention the possibility of carrying 

the pregnancy to term when discussing their 

options.”146

Genetic medicine 

and engineering have 

been capturing the 

public imagination 

at a time when law 

and policymakers are 

increasingly concerned with rising healthcare 

costs. A case study by the American Consumer 

Institute explicitly and favorably compares the 

cost of one-time gene therapy cures to the costs 

of conventional treatments for such genetic 

diseases such as hemophilia and spinal muscular 

atrophy.

The costs of research and development 

are enormous, and many gene therapies 

are expected to be priced at more 

than $1 million per patient to provide 

an adequate return on investment . . . 

policymakers and payers should look 

beyond the sticker-shock. Curing a disease, 

rather than treating it, can not only provide 

58 National Council on Disability
an immense improvement in longevity and 

quality of life, it can also save insurers and 

taxpayers money in the long-run.147

To be clear, genetic therapies and treatments 

for people with disabilities are not the same as 

genetic prenatal testing, and raise an entirely 

different set of ethical, social, and legal 

implications. This study is not advancing any 

opinion or recommendation on whether, how, or 

why people with disabilities gain access to 

genetic therapies and treatments. This point is 

only analogous. Healthcare costs are both 

particularly opaque and difficult to control in a 

fragmented, multiplayer healthcare delivery 

system. Once genetic treatment is singled out as 

an effective way to reduce the expenses of 

“debilitating and deadly 

diseases” caused by 

“defective genes,”148 it 

seems only a matter of 

time before the impetus 

to fix or cure disability 

evolves into a 

mainstream cost-based 

argument. If all women 

routinely receive prenatal 

genetic testing for all 

genetic conditions, who 

or what will protect the 

integrity of a woman’s choice to proceed with the 

pregnancy of a fetus that bears the markers for 

hemophilia and spinal muscular atrophy, for 

example? Would that choice bring with it an 

obligation to bear some or all of the medical and 

other costs of raising and maintaining the health 

of a child with genetic conditions when such 

costs could have been avoided through 

termination of a pregnancy? These are the kinds 

[W]ho or what will protect the 

integrity of a woman’s choice to 

proceed with the pregnancy of a 

fetus that bears the markers for 

hemophilia and spinal muscular 

atrophy, for example? Would that 

choice bring with it an obligation to 

bear some or all of the medical and 

other costs .

of questions that must be asked once we enter 

the universe of healthcare financing and cost, and 

they need to be asked imminently. As described 

in Chapter 2, some investors in NIPS technology 

already equate the use of NIPS testing with 

terminating the pregnancy of fetuses with 

disabilities, and the two processes together are 

characterized as a reasonable cost control 

measure.

Current Genetic, Nondiscrimination, 

and Consumer Protections in 

Federal and State Law

Pre-Birth

There are currently two main sources of 

legislation that most directly have an impact on 

prenatal genetic testing and information. The 

first source stems from 

the 2008 passage of the 

federal Prenatally and 

Postnatally Diagnosed 

Conditions Awareness 

Act (PPDCAA).149 The 

second source is rooted 

in state efforts to restrict 

the options available 

to women once they 

receive the results 

of prenatal genetic 

testing. Other relevant 

laws that have a possible impact on prenatal 

genetic testing are general disability rights 

nondiscrimination laws that have the potential 

to be raised against healthcare professionals 

who work in genetic testing. Finally, there are 

consumer protection topics that are regulated in 

other areas analogous to prenatal genetic testing, 

where commercial for-profit entities have an 

outsized interest over medical and technology 

Genetic Testing and the Rush to Perfection 59
breakthroughs that directly influence patients. 

This section will address the above topics in 

order.

The PPDCAA is the most significant federal 

legislation to arise at the junction of disability 

rights and prenatal genetic testing. Sponsored by 

Senators Brownback and the late Ted Kennedy, 

the latter known as a long-time disability 

advocate, the bipartisan legislation worked its 

way quickly through Congress over 3 weeks in 

the fall of 2008, but lost a proposed 5 million 

dollars in funding during the amendment 

process.150 Since its passage, the law “has been 

funded at only a fraction of the requested 

amount, and it has had minimal impact in 

providing families with the essential information 

of its aim.”151 The law has three explicit goals:

■ to provide women 

who have received 

a prenatal or 

postnatal diagnosis 

for Down syndrome 

or another 

condition with 

provider referrals for key support services, 

and “up-to-date information on the 

range of outcomes for individuals living 

with the diagnosed condition, including 

physical, developmental, educational, and 

psychosocial outcomes”;

■ to strengthen existing networks of support 

through the Centers for Disease Control 

and Prevention, the Health Resources and 

Services Administration, and other patient 

and provider outreach programs;

■ to ensure that patients receive “up-to-date, 

evidence-based information about the 

accuracy of the test.”152

[PPDCA] has been essentially 

ineffectual because of its lack of 

funding, but its existence has been 

critical nonetheless in prompting 

17 state measures 

Some of the activities that can be authorized 

by the Secretary of HHS under the second goal 

include the provision of telephone hotlines, 

improved outreach and peer-to-peer counseling 

programs, the creation of family registries willing 

to adopt children with genetic conditions, and 

establishment of education services for medical 

providers who “provide, interpret or inform” 

prenatal test results for pregnant women and 

their partners.153

The federal law has been essentially 

ineffectual because of its lack of funding, but its 

existence has been critical nonetheless in 

prompting 17 state measures154 to ensure that 

prospective and current parents of children with 

genetic conditions receive accurate information 

and support for making informed choices about 

prenatal and postnatal 

test results. Two other 

states, Virginia and 

Missouri, enacted laws 

similar to PPDCAA 2007, 

prior to the federal law.155

While all 19 jurisdictions 

share language and goals 

similar to the PPDCAA, there are some 

interesting differences. For instance, 

requirements in the federal law trigger upon a 

genetic diagnosis of Down syndrome or other 

prenatal or postnatal disorders, but most of the 

state laws tend to be narrowly focused on a 

Down syndrome diagnosis (or Trisomy condition, 

which is slightly broader), with the exceptions 

being Virginia, Missouri, Indiana, and Florida 

(Down syndrome and other developmental

disability). The laws also differ in the degree to 

which they mandate information be given to 

actual parents. Most states indicate that 

information on genetic conditions and service 

60 National Council on Disability
referrals must be given to providers involved in 

referring, providing, or counseling on genetic 

testing, but then do not mandate that the 

information be passed on to parents. Delaware’s 

law seems to require only the posting of 

information on a departmental website for 

providers to access. Maryland, Illinois, 

Washington, and Tennessee indicate that 

information must be given to providers but gives 

providers the discretion to share information with 

parents; Maryland expressly changed from a 

mandatory to a precatory sharing requirement in 

a later version of its law. New Jersey simply 

requires providers to give parents access to the 

information on the providers’ websites.

There are also some unique provisions among 

individual state laws that may reflect specific 

local advocacy efforts 

within those states, and/

or particular political 

leanings. Kentucky 

focuses on Down 

syndrome but also pulls 

in positive screenings for 

spina bifida as a trigger 

for the act.156 Louisiana 

prohibits “explicitly or implicitly presenting 

pregnancy termination as a neutral or acceptable 

option when a prenatal test indicates a probability 

or diagnosis that the unborn child has Down 

syndrome or any other health condition” as a 

ban on engagement in discrimination based on 

disability or genetic variation.157 Texas protects 

providers by stating that a failure to provide 

required information nevertheless does not 

result in grounds for civil and criminal liability, 

and Tennessee also states that the act does not 

create a duty of care. Texas and New Jersey 

are the only laws that require translation of 

Most states indicate that 

information on genetic conditions 

and service referrals must be given 

to providers .. but then do n

mandate that the information be 

passed on to parents

information into Spanish. Only Florida, Missouri, 

and Maryland explicitly require the provision of 

information about the accuracy of genetic testing 

itself.

The second category of laws that have arisen 

in response to the broadening availability of 

prenatal genetic testing have been outright 

bans, either on genetic testing for certain 

conditions or outright restrictions on a woman’s 

right to terminate her pregnancy after the fetus 

has received a screening for Down syndrome, 

a genetic condition, or is a particular gender. 

Between 2014 and 2018, numerous states 

attempted to enact legislation along these lines: 

South Dakota (2014), Indiana (2014), Ohio (2017), 

New Hampshire (2016), Oklahoma (2018), and 

Missouri (2016).158 Most, but not all, of these 

bills barred penalizing 

the woman who was 

seeking an abortion or 

who attempted to get 

an abortion, instead 

imposing fines and/or 

imprisonment on the 

healthcare providers 

who performed or 

would have performed the abortion. Ohio 

and Indiana’s bills did not include an explicit 

protection against penalty for the woman. 

Planned Parenthood Advocates of Missouri 

fought that state’s 2016 bill as a restriction 

on women’s reproductive rights but also 

acknowledged the relevance of disability rights 

concerns, stating “[t]his is about politics and 

taking away women’s ability to make personal, 

private, and often complicated decisions. 

This bill does nothing to address the serious 

underlying concerns about discrimination 

against people with disabilities.”159

Genetic Testing and the Rush to Perfection 61
In 2015, a bill that would have prevented the 

Department of Health from providing written 

information on abortion after a Down syndrome 

diagnosis was introduced in the Texas House of 

Representatives. According to Healthline, the 

bill failed that year,160 but as of 2018, Texas law 

included a provision that enacted a state version 

of the federal PPDCAA. That is, Texas requires 

current and accurate information about living 

with Down syndrome and service referrals to be 

provided to parents who have received genetic 

test results indicating a likelihood for the fetus 

having Down syndrome.161 As well, the law 

says that information provided cannot “explicitly 

or implicitly present pregnancy termination 

as an option when a prenatal test indicates 

that the unborn child has Down syndrome.”162

This example shows how the lines between 

the first and second categories of law can be 

blurred, and requires careful thought among 

the disability community when developing and 

advocating for laws that will help bring current, 

accurate information about living with a disability 

to those who undergo prenatal genetic testing. 

Information laws can easily be “co-opted” and 

amended by groups or lawmakers who wish 

to include barriers on women’s right to full 

reproductive information and their practical 

ability to act on their choices, including the 

choice to terminate a pregnancy for private 

reasons.

The third category of laws are disability 

nondiscrimination laws. Section 504 of the 

Rehabilitation Act of 1973 (Section 504) and the 

Americans with Disabilities Act of 1990 (ADA) 

prohibit disability discrimination in healthcare 

settings such as provider offices and hospitals.163

Whether prenatal screenings such as ultrasound 

and NIPS, and higher risk prenatal diagnostic 

tests such as amniocentesis or CVS, are provided 

by a Medicaid care provider, paid for through 

other public or private insurance, or paid for 

purely out-of-pocket, the providers performing 

them will generally be subject to federal disability 

rights law. Currently, there are no specific 

regulations or guidance dictating what those 

laws require. For example, must a NIPS company 

provide all the information that it sequences, and 

must it completely return all that information to 

the consumer?164

As well, there may be barriers to establishing 

when discrimination in genetic testing provides a 

sufficient basis for taking legal action. Even if a 

genetic counselor or other provider overtly 

advised aborting a fetus that screened or was 

diagnosed with disability, under most established 

reproductive rights cases and law, the fetus is not 

a person who could bring a Section 504 or ADA 

action or administrative complaint. Prospective 

parents of the fetus may be able to show that 

they were subject to discrimination based on 

their association with a future individual with a 

disability because they were advised to terminate 

the pregnancy, unless courts conclude that 

association with a future individual is too 

speculative. Successful actions have been 

brought against providers for failing to detect a 

child’s disability through prenatal screening and 

provide the prospective parents with genetic 

information and advice that would have led to 

abortion; these rulings should demonstrate that 

genetic testing and advice about pregnancy 

termination are part of a provider’s expected 

standard of care. Discrimination claims might 

also be brought against genetic counselors or 

providers who refuse to follow parental wishes to 

identify and implant a fetus that carries a 

particular genetic marker for a desired health 

62 National Council on Disability
condition or disability, although the viability of 

such claims is unclear.

The Affordable Care Act (ACA) also contains 

a number of consumer protections that benefit 

people with disabilities in the genetic testing 

context. For example, ACA includes maternal 

health benefits among the 10 categories of 

Essential Health Benefits that insurance plans 

must cover. This means that prenatal genetic 

counseling is usually covered by insurance 

when it is prescribed or recommended by a 

physician. At this point, we are not aware of any 

trend among health insurers to require prenatal 

genetic testing, or condition future coverage 

upon parents making 

certain decisions such 

as ending a pregnancy 

upon receiving a high 

probability screen or 

diagnostic test that 

indicates disability in a 

fetus.

In addition, 

Section 1557 of ACA 

prohibits discrimination 

in benefit design, and 

ACA bans a refusal to issue insurance based 

on a pre-existing condition or to charge higher 

premiums when the beneficiary has a preexisting condition. These factors may inhibit 

insurers from requiring beneficiaries to undergo 

prenatal genetic testing. Notably, ACA and 

Genetic Information and Nondiscrimination Act 

(GINA) consumer protections do not apply to life, 

long-term care, or disability insurance policies, 

so it is possible that these policies might carry 

a requirement for prenatal genetic testing. 

Furthermore, short-term limited duration health 

plans, and potentially Association Health Plans, 

ACA and Genetic Information and 

Nondiscrimination Act (GINA) 

consumer protections do not apply 

to life, long-term care, or disability 

insurance policies, so it is possible 

that these policies might carry a 

requirement for prenatal genetic 

testing

which are now more widely permitted under the 

current administration’s rules, are often exempt 

from ACA’s consumer protections.

The final category of laws to consider are 

consumer protections that have been enacted to 

increase transparency and restrain actual and 

perceived conflicts of interest by corporate 

stakeholders. These include “sunshine laws” and 

conflict of interest provisions that require 

pharmaceutical and other medical treatment or 

device commercial entities to disclose their 

relationship with prescribing healthcare 

providers.165 Under the Sunshine (Open 

Payments) Act,166 CMS operates an Open 

Payments Database that 

is publicly accessible and 

searchable, with results 

that are downloadable. 

The Act requires 

“manufacturers of 

covered drugs, devices, 

biologics, or medical 

supplies to collect 

detailed information 

about payments and 

other ‘transfers of value’ 

worth over $10 from manufacturers to physicians 

and teaching hospitals”167 and record this on the 

Open Payments database. The database covers a 

wide range of providers who have an active 

license to practice, including doctors of medicine, 

osteopathy, dentists, podiatrists, optometrists, 

and licensed chiropractors. There is currently no 

requirement that places such an obligation on 

NIPS or other commercial entities and 

laboratories engaged in prenatal genetic testing. 

Nor are there any disclosure requirements that 

require genetic counselors to disclose that they 

are working for third parties other than the 

Genetic Testing and the Rush to Perfection 63
physician offices, prenatal clinics, or hospitals 

where they are embedded, but employed by a 

laboratory. While Sunshine Act and conflict of 

interest guidelines currently comprise a gap in 

regulation for the genetic testing industry, the 

laws themselves would be a second step. 

Unlike pharmaceutical companies, prenatal 

genetic testing companies are not currently 

regulated by CMS in any substantive way. 

CMS should first extend its jurisdiction over 

genetic testing companies, thereby clearing 

the way for federal and 

state legislation to 

foster needed 

consumer protections 

for genetic testing 

consumers.

Post-Birth

How Effective Have Federal 

Anti-discrimination Laws Been 

in Protecting Individuals from 

Workplace Discrimination Based on 

the Results of Genetic Testing?

Disability-based discrimination occurs not only 

in the process of prenatal genetic testing, but 

also with respect to genetic tests conducted 

after birth. That is, employers, insurers, and 

others have discriminated against individuals 

based on the presence of a genetic marker 

or a condition identified through genetic 

testing. As Mark Rothstein, Director of the 

Institute for Bioethics, Health Policy and Law 

observed, “[e]mployers have a tremendous 

economic incentive to discriminate based 

on perceived future health status. They’ve 

done it with other conditions and we have 

every reason to expect they would do it in the 

genetics area.”168

... Sunshine Act and confli

of interest guidelines currently 

comprise a gap in regulation for the 

genetic testing industry 

Both the ADA and GINA have been used to 

address such discrimination in the workplace, 

where it has raised some of the greatest 

concern. In addition, most states have laws 

prohibiting some types of discrimination based 

on genetic information, though there is a great 

deal of variation among those laws and most are 

not as protective as federal law.

As scientists began sequencing the human 

genome in the early 1990s, public concerns 

about the potential for genetic discrimination 

began to proliferate, and 

proposals to address this 

type of discrimination 

started to be introduced 

in Congress.169 While 

opponents of genetic 

anti-discrimination 

legislation argued for 

years that instances of discrimination based 

on genetic information are extremely rare, 

studies over time demonstrated that concerns 

about such discrimination were well founded. 

In 1996, a study of individuals who were at risk, 

presymptomatic, or asymptomatic for a genetic 

disorder found that nearly 48 percent of the 

respondents reported that they had experienced 

some form of discrimination based on their 

risk status.170 A 2000 Northwestern National 

Life Survey found that 15 percent of employers 

intended to obtain job applicant’s genetic 

information before extending a final offer of 

employment.171 A 2004 study by the American 

Management Society concluded that:

Companies were genetically testing 

employees for risk of breast and colon 

cancer, Huntington’s disease, and 

susceptibility to workplace hazards. One in 

64 National Council on Disability
six of the companies surveyed collected 

family medical histories of their employees. 

At least one-half of the companies testing 

for breast and colon cancer risk and 

Huntington’s disease considered the results 

in their hiring, re-assigning, and firing 

decisions. One-fifth of the companies use 

the information gleaned from family medical 

histories, and more than one-half use the 

information from tests regarding 

susceptibility to workplace hazards in their 

employee decision-making.172

A number of high-profile cases have been 

brought under the ADA and GINA to challenge 

employers’ efforts to take 

adverse action against 

individuals based on 

genetic test results or 

to force employees to 

disclose their genetic 

information. Perhaps the 

most notable case, and 

one that played a role in 

creating momentum for 

the passage of GINA, was 

a case brought by the 

US Equal Employment Opportunity Commission 

(EEOC) against Burlington Northern Santa Fe 

Railway (BNSF) challenging BNSF’s actions of 

secretly conducting genetic tests on employees 

who had made internal claims of work-related 

carpal tunnel syndrome without the employees’ 

knowledge.173 The employees were told that they 

had to undergo medical testing “to ensure that 

all possible contributing causes of [carpal tunnel 

syndrome] were work-related.” Employees were 

not told that BNSF’s doctor would draw vials of 

blood to be shipped to a genetic testing facility 

While the ADA bans employers 

from using medical tests that are 

not job-related and consistent with 

business necessity, its application 

to genetic discrimination is 

limited, and GINA more broadly 

addresses genetic discrimination in 

employment

to determine whether the individuals might 

have a rare genetic condition called Hereditary 

Neuropathy with liability Pressure Palsies (HNPP). 

HNPP is a progressive neuromuscular disorder 

that makes individuals susceptible to nerve injury 

from pressure, stretch, or repetitive use and, 

according to the EEOC, is very unlikely to be found 

in people who have work-related carpal tunnel 

syndrome.174 The EEOC brought the case after 

one employee, upon discovering what tests were 

being performed, refused to take the test. BNSF 

scheduled him to appear before an “investigation” 

panel for a hearing on insubordination and violation 

of safety rules, with the possibility of termination. 

This resulted in the union’s involvement, and 

the EEOC sought an 

immediate injunction to 

stop the testing.175

The EEOC argued that 

the testing violated the 

ADA’s bar on medical 

examinations of 

employees that are not 

job-related and consistent 

with business necessity. 

The Commission argued 

that the test would not 

be medically necessary unless it was to 

determine whether a condition interfered with an 

employee’s ability to perform the essential 

functions of the job or whether the person posed 

a direct threat to health or safety. Instead, the 

test was designed to determine the cause of the 

carpal tunnel syndrome.176 The case eventually 

settled, with BNSF agreeing to end the genetic 

testing of its employees and to pay $2.2 million 

to compensate employees.177 While the ADA 

bans employers from using medical tests that are 

not job-related and consistent with business 

Genetic Testing and the Rush to Perfection 65
necessity, its application to genetic discrimination 

is limited, and GINA more broadly addresses 

genetic discrimination in employment.

With the passage of GINA in 2008, Congress 

intended to encourage people to participate 

in medical genetic testing and ensure that 

this would not lead to loss of a job or health 

insurance.178 Members of Congress had begun 

introducing legislation to address genetic 

discrimination as early as the 1990s.179 President 

Clinton issued an Executive Order in 1992 

forbidding genetic testing as a condition of 

employment in executive branch agencies,180

and by the time of 

GINA’s passage, most 

states had some type 

of legislation addressing 

genetic discrimination.181

GINA’s findings indicate 

that a national standard 

“is necessary to fully 

protect the public from 

discrimination and allay 

their concerns about 

the potential for discrimination, thereby allowing 

individuals to take advantage of genetic-testing 

technologies, research, and new therapies.”182

GINA prohibits employers from discriminating 

based on the genetic information of employees 

or applicants, and also bars employers from 

requesting, requiring, or purchasing such genetic 

information, subject to a number of exceptions.183

It is difficult to gauge how much GINA has 

changed employers’ actions to seek or use 

employees’ genetic information, but a 2019 

survey of the caselaw under GINA published 

in 2019 provides some insight into the types 

of claims that have resulted in court decisions. 

During GINA’s first 10 years, there were few 

GINA has been most successfully 

used as a workplace privacy statute, 

invoked to challenge employers’ 

unlawful requests for employees’ 

genetic information or employers’ 

unlawful disclosure of that 

information

court decisions. The study found court decisions 

in only 48 cases with plausible GINA claims.184

While many lawsuits are settled or otherwise 

disposed of without reported court decisions, 

the number of decisions is sufficiently small 

to indicate that GINA lawsuits are rare. And 

GINA charges filed with the EEOC rose for 

several years and then began falling steadily.185

The court decisions reviewed in the study 

included none alleging workplace discrimination 

based on genetic test results. Moreover, few 

involved successful claims establishing that 

employers took adverse action based on genetic 

information.186 The 

study authors point out, 

however, that GINA has 

been most successfully 

used as a workplace 

privacy statute, invoked 

to challenge employers’ 

unlawful requests for 

employees’ genetic 

information or employers’ 

unlawful disclosure of 

that information. Nearly 40 percent of the cases 

involved claims based on employers’ requests 

for family medical history, requests for medical 

records or exams, or employers’ disclosure 

of genetic information.187 Notably, the Justice 

Department entered its first settlement involving 

GINA claims in 2018, resolving claims that 

the Minneapolis Police Department routinely 

requested and obtained genetic information from 

applicants for police officer positions.188

To be sure, there have been lawsuits 

challenging adverse employment actions based 

on genetic testing information despite the 

absence of reported decisions. For example, 

Pamela Fink, who filed the first charge with 

66 National Council on Disability
EEOC alleging employment discrimination under 

GINA, resolved her charge through a confidential 

settlement with her employer. Ms. Fink’s charge 

alleged that after nearly 4 years at her company, 

with consistently glowing reviews, she was 

suddenly terminated after she underwent 

surgery for a double mastectomy and 

reconstructive surgery following genetic tests 

revealing that she had the BRCA2 gene and had 

an 80 percent chance of developing breast 

cancer. The day before Ms. Fink’s reconstructive 

surgery, she received a scathing review, and 

within 2 months she was fired.189

One of the stakeholders interviewed for 

this report, April 

Kiser, also sued to 

challenge employment 

discrimination based 

on genetic testing 

information. After 

18 years as a city 

employee working for 

the police department in 

Jacksonville, Arkansas, 

Ms. Kiser was tested 

for and found to have the BRCA1 and BRCA2 

gene mutations. With a 90 percent chance of 

developing breast cancer, she sought to have 

the city’s health plan cover a double mastectomy 

and reconstructive surgery recommended by 

her doctor. Ms. Kiser’s claim was denied and 

her appeal required arguing before a panel of 

mayors, including her employer, the mayor of 

Jacksonville, who made belittling comments 

when she described her health history and 

hormone treatment. During the appeal, Ms. 

Kiser disclosed her genetic testing information 

and family history of breast cancer. Her appeal 

was denied and the city refused to cover her 

One of the ways that employers 

have sought to collect employees’ 

genetic information, as well as 

disability-related information, is 

through the workplace wellness 

programs that employers have 

used in an effort to try to curb rising 

healthcare costs

surgeries. As a result, Ms. Kiser did not have 

the double mastectomy, which would have cost 

more than she made in a year. In addition, Ms. 

Kiser experienced workplace discrimination. She 

filed a charge of discrimination with the EEOC 

following her employer’s belittling comments 

at her appeal hearing, and several days after 

the EEOC terminated its investigation, her 

supervisor eliminated her job and reassigned 

her from being a public information officer to 

scanning old files. Shortly afterward, her pay 

was reduced as well. Ms. Kiser filed a complaint 

in state court, challenging the city’s actions 

under GINA as well as the Arkansas Civil Rights 

Act’s bar on gender 

discrimination. Her 

lawsuit is pending.

The more common 

usage of GINA to 

address workplace 

privacy concerns and 

prevent employers from 

seeking employees’ 

genetic information is 

perhaps unsurprising 

in a “big data” era when health and genetic 

information have become commodities and are 

increasingly being sought in a variety of contexts.

Recent Congressional and 

Agency Efforts to Reduce ADA and 

GINA Protections for Employees to 

Keep Their Disability and Genetic 

Information Private from Employers in 

Workplace Wellness Programs

One of the ways that employers have sought to 

collect employees’ genetic information, as well 

as disability-related information, is through the 

workplace wellness programs that employers 

Genetic Testing and the Rush to Perfection 67
have used in an effort to try to curb rising 

healthcare costs. The use of such programs 

began to expand significantly after ACA increased 

the level of incentives and penalties that could 

be used to pressure employees to participate 

in these programs, to disclose information, and 

to meet health targets, beginning in 2014.190

By 2016, 90 percent of large firms that offered 

health benefits offered some type of wellness 

program, and 71 percent of large firms gathered 

information about employees’ health status 

using health screening tools, such as health risk 

assessments and biometric screens.191

There is little public information about the 

extent to which genetic information is being 

collected through workplace wellness programs. 

However, as discussed below, recent years have 

seen legislative and regulatory efforts to promote 

the use of penalties or incentives to pressure 

employees to provide genetic information (as 

well as disability information) through workplace 

wellness programs.

Both the ADA and GINA place limits on how 

incentives or penalties can be used in workplace 

wellness programs—for example, these laws 

forbid an employer from seeking disability or 

genetic information through a wellness program 

unless the program is voluntary, meaning that 

individuals cannot be penalized for choosing 

not to disclose this information.192 Thus, while 

ACA allowed significant penalties and incentives 

to push employees to disclose information in 

workplace wellness programs, the ADA and GINA 

apply simultaneously and prohibit such penalties 

or incentives where the information sought is 

genetic or health information. In fact, the EEOC’s 

GINA regulations, which were issued after 

passage of ACA and the expansion of workplace 

wellness programs, specifically state that an 

employer “may not offer a financial inducement 

for individuals to provide genetic information” 

in a wellness program and that any inducement 

for completing a health risk assessment must 

be offered regardless of whether an employee 

chooses to answer the questions about genetic 

information.193

Responding to pressure from business 

groups, however, the EEOC in 2016 issued 

regulations purporting to “align” worker rights 

under the ADA and GINA with ACA’s provisions, 

allowing steep financial penalties for declining 

to disclose information in a wellness program.194

The new GINA regulation permitted employers to 

impose penalties of up to 30 percent of the value 

of individual insurance premiums, amounting to 

thousands of dollars each year, on individuals 

who chose to exercise their rights under GINA to 

keep private genetic information that consisted 

of family medical information. The new ACA 

regulation permitted employers to impose similar 

penalties on employees who chose to exercise 

their rights under the ADA to keep disability 

information private. These new regulations 

ignored the plain language of the ADA and GINA. 

They also ignored the fact that the protections 

against disclosure to employers under the ADA 

and GINA were designed to address the potential 

for workplace discrimination—an entirely different 

purpose than ACA’s wellness provisions, which 

addressed discrimination in insurance plans.

The new regulatory provisions allowing these 

steep financial inducements to disclose health 

and genetic information were invalidated by a 

federal district court in 2017. A legal challenge to 

the regulations brought by AARP resulted in the 

court finding that the regulations were arbitrary 

68 National Council on Disability
and capricious and that EEOC had failed to offer 

an adequate explanation for its decision to 

construe “voluntary” wellness programs to allow 

these types of financial inducements.195

In addition to the EEOC’s unsuccessful move 

to weaken workplace protections against forced 

disclosure of health and genetic information, 

a number of legislative efforts aimed to do 

the same, in even more draconian ways. 

Most recently, in 2017, Representative Virginia 

Foxx, then Chair of the House Education and 

Workforce Committee, introduced a bill that 

would have largely eliminated ADA and GINA 

protections for employees in workplace wellness 

programs, allowing employers to use large 

financial penalties to 

force disclosure of this 

information.196 This 

proposed legislation 

garnered significant 

negative press, 

particularly focused on 

its weakening of GINA 

protections. It was never 

voted on by the full House of Representatives.

While efforts to weaken ADA and GINA 

protections against forced disclosure of genetic 

and health information in workplace wellness 

programs have not succeeded, it is likely that 

such efforts may resurface. NCD believes it is 

critical that these ADA and GINA protections 

remain in place. Congress enacted those 

protections in order to minimize the potential for 

discrimination, recognizing that once employers 

have this type of information, it is difficult to 

guard against it being used in a discriminatory 

manner and it is often difficult for employees to 

prove that such discrimination has occurred.

Thirty-five states have state laws 

related to genetic discrimination in 

employment. By and large, GINA is

at least as protective as those state 

laws

State Laws Barring Discrimination 

Based on Genetic Testing Information

Thirty-five states have state laws related to 

genetic discrimination in employment.197 By and 

large, GINA is at least as protective as those 

state laws, and typically more protective.

Most state laws offer lesser protections 

overall than GINA. Delaware’s law, for example, 

bars employers from intentionally collecting 

genetic information of an employee or applicant 

or a family member, but offers a broad exception 

where the information collection is “job-related 

and consistent with business necessity.”198 That 

exception stands in contrast to GINA’s narrow 

exceptions—for example, where the employer 

inadvertently acquires 

the information, where 

the employer must 

collect family medical 

information to comply 

with the Family and 

Medical Leave Act, 

where the information 

is used under certain conditions to monitor the 

biological effects of toxic substances in the 

workplace, and as part of a voluntary wellness 

program.199 Kansas bars employers from 

obtaining or seeking to obtain or use genetic 

screening or testing information, but only for 

the purpose of discriminating, distinguishing, 

or imposing restrictions based on that 

information.200 Maryland has no exceptions to its 

prohibition on employers requesting or requiring 

genetic tests, but the bar is only for tests 

used as a condition of hiring or determining 

benefits.201 Florida provides protection from 

genetic discrimination in employment only 

to people with sickle-cell trait, prohibiting 

Genetic Testing and the Rush to Perfection 69
“screening or testing for the sickle-cell trait as a 

condition for employment.”202

Some states provide protections that are 

more specific than GINA’s in some respects, 

though typically those more specific protections 

seem to cover the same ground as GINA. For 

example, the District of Columbia specifically 

prohibits employers from administering a 

genetic test as a condition of employment,203

but administering such a test would presumably 

run afoul of GINA’s bar on requesting or 

requiring genetic information. And unlike GINA’s 

protections, DC’s protections do not extend 

to the genetic or medical information of an 

individual’s family members. Michigan bars 

employers from acquiring genetic information 

“of an employee, applicant, or family member 

of an employee or applicant”204 with only one

exception: where the information is “voluntarily 

provid[ed]” by the employee and “is related 

to the employee’s health or safety in the 

workplace.”205

Enforcement

Fourteen states and DC allow parties alleging 

discrimination to immediately bring civil suits,206

and five states, like GINA, allow parties alleging 

discrimination to sue following exhaustion of 

administrative remedies.207

Fourteen states and DC establish a process 

to file a complaint alleging discrimination with a 

commission, state department of labor, or similar 

administrative body charged with investigating 

such matters,208 while nine states grant 

enforcement authority to the attorney general, 

a commission, or similar, or establish penalties 

for violations, but do not explicitly establish a 

complaint process.209

Wellness Programs

Only one state, Illinois, has specific 

provisions governing employers’ use of 

genetic information and genetic testing in 

workplace wellness programs.210 The Illinois 

law provides a similar exception to GINA’s, 

allowing employers to collect information 

pursuant to a voluntary wellness program. 

Illinois’ statute prohibits an employer from 

using an employee’s genetic information or 

genetic testing “in furtherance of a workplace 

wellness program” unless the employer offers 

“health or genetic services”; the employee 

provides the employer with written permission; 

individually identifiable information concerning 

the results of these services are received only 

by the employee, a family member if the family 

member is receiving genetic services, and the 

licensed healthcare professional or licensed 

genetic counselor involved in providing such 

services; and that information is only available 

for purposes of such services and is not 

disclosed to the employer except in aggregate 

terms that do not disclose the identity of 

specific employees.”211 Furthermore, an 

employee cannot be penalized by an employer 

for choosing not to “disclose his or her genetic 

information” nor can an employee be penalized 

for choosing not “to participate in a program 

requiring disclosure of the employee’s genetic 

information.”212 This exception mirrors GINA’s 

voluntary wellness program exception.213

California is currently considering a law 

to provide strong protections for employees’ 

health and genetic information in workplace 

wellness programs.214 California’s proposed 

legislation would go further than GINA, although 

the enforcement mechanism would be to file a 

70 National Council on Disability
complaint with the state’s labor commissioner, 

rather than to seek relief through the courts.215

The proposed California legislation would 

bar employers from requiring participation 

in wellness programs “as a condition of 

employment,” and from penalizing an employee 

or otherwise retaliating against an employee 

“in response to a matter related to a wellness 

program, such as an employee’s election to not 

participate in a wellness program or the data 

collected through the wellness program about 

the employee.”216

California’s proposed legislation would 

bar employers from offering an incentive or 

reward to an employee based on adherence 

to a wellness program.217 In addition, it would 

require that employers provide employees 

with “a written explanation, in clear and easily 

understandable language, about the basis of 

the wellness program, a description about the 

data collection process and which data will 

be collected through the wellness program, 

policies and practices pertaining to the wellness 

program, and the employee’s rights concerning 

the wellness program under federal and state 

laws and regulations.”218 The bill, however, would 

not explicitly prohibit an employer from receiving

individually identifiable information, instead 

requiring that “[a]n employer shall not share any 

personal information or data collected through 

a wellness program” and that the employer 

maintain “compliance with state and federal 

privacy laws.”219

While state laws addressing genetic 

discrimination in employment do not offer 

many advantages in comparison with GINA, 

California’s workplace wellness bill offers a 

useful model for states wishing to adopt a law, 

or modify their existing law, concerning genetic 

information discrimination in employment; 

however, its enforcement provisions could be 

much stronger.

Genetic Testing and the Rush to Perfection 71
72 National Council on Disability
Chapter 4: Finding a Way Forward Among 

Competing Concerns

Timing

T

he topic of genetic testing, even leaving 

out the particular concerns of the disability 

community, touches many distinct 

stakeholders and identifiable groups: reproductive 

rights and reproductive justice advocates, civil 

rights advocates, pro-life/anti-abortion advocates, 

genetic counselors, medical providers, parents 

and families, employers, commercial laboratories, 

industry investors, bioethicists, insurers, federal 

and state law, and 

policymakers. The list of 

concerned parties is long 

because genetic testing, 

particularly of embryos 

and fetuses, inevitably 

leads to the potential 

for genetic manipulation 

and control, thereby 

raising questions about 

the direction of the human race. However, one 

difference among the many stakeholders is the 

timeframe for their concerns. Individuals and 

families who are focused on the potential for 

genetic treatment of specific health conditions 

and short life spans have an urgent window 

on genetic analysis. Investors and employers 

have a short-term viewpoint, impelled by 

the need to develop a patentable product, 

develop a financially sustainable company, and/or 

maintain a reliable, healthy workforce. By 

comparison, individuals with disabilities and 

disability advocates who argue for caution and 

a social justice approach because of fears about 

the impact of genetic testing on current and 

future generations of people with disabilities 

may appear to have a lengthier timeframe. 

This difference in timing can be perceived by 

regulators and policymakers as a reason to delay 

changing a free-market status quo, or in the case 

off employment, a reason 

to delay or backtrack 

on existing regulatory 

measures that would 

restrict employer actions 

in favor of preserving 

the nondiscrimination 

rights of people with 

disabilities. But the 

astounding pace of 

genetic analysis and the fact that inheritable 

germline genetic engineering has arrived220

means that law and policymakers face an urgent 

time frame for all stakeholders.

Moreover, the stake of the disability 

community in genetic testing has not benefited 

from a decades-long academic and policy 

discussion while genetic advances continue 

under laissez-faire control here in the US. 

Section 504 was enacted in 1973 and key 

[T]he stake of the disability 

community in genetic testing has 

not benefited from a decades-long 

academic and policy discussion 

while genetic advances continue 

under laissez-faire control here in 

the US

Genetic Testing and the Rush to Perfection 73
disability-related regulations have now passed 

their 40th anniversary. The ADA approaches its 

30th birthday in 2020. Section 1557 of ACA 

freshly embeds nondiscrimination in healthcare. 

The disability community has seen significant 

advances in social integration, physical 

accessibility, educational levels, and the length of 

their lives. Yet none of these advances have had, 

or will necessarily have in the future, an impact 

on how the general public perceives the 

experience and quality of life of people who live 

with disabilities and genetic conditions, and 

the lives of the parents of children with 

disabilities. Deeply rooted stereotypes about the 

limited capacities and 

worth of people with 

disabilities are not so 

easily erased. As 

Adrienne Asch wrote 

in 2003:

I fear that the current climate in which 

prenatal testing takes place displays 

neither the rhetorical agility nor the social 

commitment to equality that I desire. 

If we are ever to make it at least as 

acceptable to bear and raise a disabled 

child as a non-disabled one, we must 

simultaneously commit ourselves to both 

social reforms that include all people, 

whatever their characteristics, and to 

accepting consumerism in the reproductive 

marketplace.221

Without a genuine and timely commitment to 

disability and social justice policy and regulatory 

measures in the field of genetic testing, the 

United States will continue to see two tracks 

that will increasingly diverge. One track will see 

[T]he field of genetics tends to 

prioritize disability elimination over 

treatment and equal participation

genetic testing and genetic engineering continue 

to hold the unnuanced view that the elimination 

of disability through genetic testing advances 

humanity’s physical, social, and economic 

wellbeing. The other track will have people with 

disabilities advocating for the ongoing elimination 

of social, economic, and legal barriers to their 

full participation in society. Even if these tracks 

never meet, they can influence one another. The 

disability community has spent decades hoping 

that the second track of full inclusion in society 

would come to influence the first and propagate 

a fuller understanding of what it means to live 

a life with disability, but the opposite appears 

to be true as the field 

of genetics tends to 

prioritize disability 

elimination over 

treatment and equal 

participation.

Building Consensus

Many possible courses of action may reduce the 

adverse impact of genetic testing on individuals 

and communities with disabilities. These 

actions range from informal individual measures 

such as talking to and educating one’s friends, 

neighbors, and colleagues about disability rights, 

to the development of nonbinding guidance for 

professional stakeholders, to the adoption of 

binding regulations, to the enactment of state 

laws that curtail abortion on the basis of disability.

This paper’s introduction established a 

principle of respect for women’s autonomy over 

their own reproductive choices. Particularly in 

the current polarized political climate, many 

disability rights advocates would be uneasy about 

promoting restrictions on a woman’s right to 

choose to end a pregnancy for whatever reason. 

74 National Council on Disability
The last action in the spectrum of action listed 

above is therefore eliminated. The first action, 

as well, can always be encouraged and should 

always be taking place, regardless of additional 

ongoing advocacy for guidance or regulation. In 

fact, bringing regulatory and policy proposals 

can provide the opening that will prompt 

conversation about what it means to live with 

disabilities. The middle option, of advocating for 

specific professional guidelines and state and 

federal policies and regulations to govern the 

players in genetic testing, will require outreach 

to various stakeholder groups who would not 

otherwise support such proscriptive steps. Some 

stakeholders, such as industry, may never come 

to support regulation of the field. While it might 

be possible to achieve compromise with industry 

on some issues, disability advocates must also 

keep in mind the importance of maintaining close 

communication and ties with other, more natural 

allies, such as civil rights, reproductive justice, 

and social justice advocates, who may also have 

distinct concerns with the advance of genetic 

testing and personalized medicine.

The disability community focus will most 

naturally be on guidance or regulations 

concerning the quality and breadth of genetic 

counseling and information provided to 

prospective parents upon the receipt of 

a disability-positive screen or diagnosis, 

maintaining independence for the genetic 

counseling profession, ensuring disabilityrelated education for all professionals involved in 

genetic testing, and direct regulation of industry 

marketing, testing, and outreach practices. 

Stephanie Meredith raised the concern of how 

direct one-on-one sponsorship between one 

genetic company and a specific advocacy group 

could lead to actual or perceived undue influence 

over that group’s informational materials and 

advice on genetic testing. Imposing a more 

generic “tax” on all commercial laboratories that 

would go toward an advocacy fund for which 

groups could apply would help eliminate the risk 

and appearance of undue corporate influence.222

In the seminal Parens and Asch article from 

1999, the experts who assembled for five 

multiday meetings over a 2-year period engaged 

in a robust discussion that elevated participants’ 

knowledge and shared understandings, but 

the group still could not reach agreement on 

what kinds of disability-specific screens could 

or should be offered in prenatal testing. Every 

such attempt seems to splinter a highly diverse 

disability community, and raise difficult questions 

about how to balance individual and collective 

needs, rights, and values. As just one example, 

Deaf parents who choose to use genetic testing 

to screen for genes associated with Deafness, 

do so as part of a broader attempt to preserve 

Deaf culture and community. Is this comparable, 

or not, to the attempts of parents without 

disabilities to ensure a child with desired traits of 

appearance and talent? The latter attempts have 

been critiqued by disability advocates as avoiding 

the parental ideal of unconditionally loving and 

supporting the child that is born, irrespective of 

that child’s characteristics. Does a collective goal 

rather than an individual one alter the nature of 

how genetic testing is being used?

Changing Hearts and Minds

The disability community underwent critical 

lessons in building and maintaining unity during 

the battle to enact the ADA. Similar concerns will 

doubtless arise when seeking regulatory and 

legislative support in the area of genetic testing. 

Yet unity among the community is one of the 

Genetic Testing and the Rush to Perfection 75
most, if not the most, effective means of not only 

achieving the support of state and federal 

lawmakers, but also reaching the “hearts and 

minds” of the public. Unity will also be a 

significant challenge for the community when it 

comes to genetic testing, which by its very nature 

identifies and evaluates the “risk” of particular 

genetic conditions. Efforts to agree on the kinds 

of health conditions that preimplantation genetic 

diagnosis (PGD) can be used to detect have been 

challenging for the over three decades since PGD 

was first used on 

humans. The ease and 

wide availability of NIPS, 

especially as technology—

and remuneration—for 

NIPS improves and 

genetic sequencing and 

polygenic risk scoring is 

added to chromosomal 

analyses, creates even 

more pressure to 

establish a “list” of 

diagnoses for which genetic testing can be used, 

and by implication, a list of conditions for which 

genetic testing cannot be used.223 One way or 

another, lines are being drawn all the time in the 

evolving world of genetic testing. This reality 

makes disability community unity essential, but 

such participation can also swiftly be co-opted 

when disability rights arguments are swallowed 

up by patient advocacy and promises of medical 

[T]he widespread use of genetic 

testing, and the rapid development 

of further technologies such as 

human germline editing, may lead 

to such significant losses within 

disability communities that these 

truths will never reach the tipping 

point for broader acceptance

cure. Ultimately, there is no need for a showdown 

between those who would advocate for broader 

genetic treatment of disability and those who 

would advocate for conditions to be placed on 

genetic testing. In both arguments, the lived 

experience and narratives of people with 

disabilities must help lead the way, not the latest 

technology.224

Each generation has its own counselors to 

educate, its own genetic, medical, and research 

professionals, disability scholars and advocates, 

plus new entrepreneurs 

and corporate entities 

who enter an essentially 

unregulated space. At 

the heart of the disability 

community’s critique of 

genetic testing is the 

same critique that lies 

behind many, if not all, 

of the bioethics papers 

collected by NCD: the 

failure of the nondisabled 

world to accept disability as a natural part of life 

that does not and should not determine the lives 

of people with disabilities. The problem is that 

the widespread use of genetic testing, and the 

rapid development of further technologies such 

as human germline editing, may lead to such 

significant losses within disability communities 

that these truths will never reach the tipping point 

for broader acceptance.

76 National Council on Disability
Case Study

L

ike so many best practices, Lettercase’s 

origins arise out of one woman’s 

experience. Stephanie Meredith was 

23 years old when she gave birth to a son with 

Down syndrome. Her son was diagnosed 

postnatally and she recalls getting good support 

at a progressive hospital where another mother 

of an older child with DS came in and showed her 

a picture of her child on a bicycle. It was 

seemingly a small thing but a significant turning 

point because it showed her and her husband 

that family life could still 

be fun.

After becoming 

involved with DS support 

groups, she read a study 

in 2006 that indicated 

women were not getting 

the support they needed 

after a prenatal diagnosis 

of DS. Shortly thereafter, ACOG guidelines were 

modified to indicate that all women should be 

offered prenatal screening. Stephanie and other 

advocates realized that if all women could receive 

screening, then they should also all be able 

to get good peer-reviewed medical and social 

information about DS. She quickly realized there 

was a dearth of such information. Fortunately, 

Meredith is a technical writer, and her husband a 

photographer. Pictures were a critical component 

of the materials they developed for women who 

received prenatal genetic testing. They wanted 

to show natural glimpses of life with a child with 

DS, people of different races and ethnicities from 

different walks of life, engaged in typical family 

activities. Once a draft was put together, the 

materials were run past a “consensus group” put 

together by a University Center for Excellence in 

Developmental Disabilities (UCEDD) that included 

representatives from professional organizations 

such as ACOG, as well as DS advocates, 

practicing healthcare 

providers, and so forth. 

The group’s feedback 

was incorporated and 

then the materials were 

made available.

Lettercase initially 

tried to continue a 

nonprofit but it wasn’t 

sustainable, and eventually the organization went 

under the umbrella of the Kentucky UCEDD. Over 

time, other genetic condition advocacy groups 

have formed partnerships with Lettercase, and 

the underlying consensus group has also evolved 

to include representatives with other genetic 

conditions, a representative from the American 

Academy of Pediatricians, a UCEDD 

representative, and so forth. Meredith is proud of 

the material template that they currently use. 

They wanted to show natural 

glimpses of life with a child with 

DS, people of different races and 

ethnicities from different walks 

of life, engaged in typical family 

activities

Genetic Testing and the Rush to Perfection 77
They include family life outcomes, research, 

health outcomes, employment prospects, and go 

a bit into the adult years. For guidance, they use a 

published study that compared the information 

that parents said they wanted after receiving a 

prenatal diagnosis of a genetic condition and the 

information that providers think parents want. 

Lettercase tries to provide the information that 

both groups think is important, and include 

perspectives from parents and providers, as well 

as disability advocates.

Katie Stoll, a genetic counselor in Washington 

State, connected with 

Stephanie Meredith 

around 2011 because 

of Stoll’s own interest 

in developing additional 

materials related to 

living with a disability. 

She recalls getting 

opposition from other counselors when she 

discussed the inclusion of pictures of people 

with DS living their daily lives. Some counselors 

thought women would be unduly pressured 

if they were shown pictures of “cute babies 

with DS.” Others just wanted to use pictures of 

chromosomes, as they had in the past. Pictures 

of chromosomes may help explain the genetic 

abnormality, but it doesn’t help to explain what 

a child with that genetic condition could be 

like. When asked whether it is difficult to get 

good information about disability, Katie replied 

that “it is really challenging to build the needed 

bridges to people who are actually living with 

the particular conditions. As a consequence, it’s 

hard to really know and advise on the condition.” 

She personally had a time when she worked 

with Stephanie and recalls that “I used to call 

her up to ask real questions about raising a child 

Pictures of chromosomes may help 

explain the genetic abnormality, 

but it doesn’t help to explain what 

a child with that genetic condition 

could be like

with Down syndrome, things involving care, 

reactions, learning. It’s also hard to be Stephanie, 

the one giving advice and doing it from a position 

of personal vulnerability, knowing as well that 

another woman is facing a decision to potentially 

terminate a fetus and understanding the need to 

support the woman.”

When Meredith was asked about her biggest 

challenges, she named two; keeping up with 

the rapidly expanding list of genetic conditions 

for which commercial laboratories are offering 

tests, and disseminating materials once they 

are written. Of course, 

the underlying problem 

to both of these 

challenges is sufficient 

funding. The laboratories 

themselves occasionally 

offer “sponsorships” 

of a particular affected 

genetic condition advocacy group, to help that 

group develop educational materials, but once 

the draft is completed, the sponsoring lab can 

ask to review it and there can be the attendant 

pressure to modify or soften some of the 

language in accordance with what the sponsor 

requests. Meredith felt that “some labs have 

been helpful to work with, but for the most part, 

they have no interest in putting their money into 

comprehensive education programs about living 

with genetic conditions. That isn’t their priority.” 

She also doesn’t mind commercial entities being 

involved as one stakeholder among many in the 

drafting, but it must, ultimately, be a balanced 

group of all stakeholders that reviews materials. 

Even when laboratories try to be objective, they 

can still be misleading, “for instance saying a test 

has 99% sensitivity does not mean that the test 

has 99% predictive value.”

78 National Council on Disability
In terms of dissemination, Lettercase has a 

good relationship with all the professional 

associations, but it is nonetheless difficult to get 

word out to individual providers, even when 

material is free. The small number of genetic 

counselors makes it possible to reach most of 

them, but that isn’t the case for other specialists. 

Translation and having the proper cultural lens for 

educational materials is also a part of the 

dissemination challenge. Translation is not 

naturally built into the budget. She just has to go 

out and get donations, or possible grant monies. 

Grants are also part of 

what sustains the work 

of developing materials 

for genetic conditions 

other than DS.225 As a 

result, the prioritization of 

which conditions get 

worked on next may 

depend less on the public 

need for information on that condition or the 

number of people affected, and more on how 

work on a particular condition can best meet the 

conditions of the grant.

Lettercase has an excellent website (https://

www.lettercase.org/) and provides current 

evidence-based information about the actual 

experiences of people and families living 

with specific genetic conditions, general 

developmental milestones and common health 

concerns, available social supports and services, 

and further resources. Information is provided 

Even when laboratories try to 

be objective, they can still be 

misleading, “for instance saying 

a test has 99% sensitivity does 

not mean that the test has 99% 

predictive value.

through text and photographs and directed at 

different stakeholders. It has clearly been a labor 

of love for Meredith and her family, who also 

built strong relationships with other professionals 

such as Katie Stoll, advocates, and ultimately 

the Kentucky UCEDD. But sustained, effective, 

and replicable advocacy cannot depend wholly 

on the determination of individuals, on the 

fortuitous forming of professional and personal 

relationships, and on funding and sponsorship 

that shows up when it is needed. When 

considering the funds, marketing power, and 

organized lobbying effort 

of the genetic testing 

industry in comparison 

with the DS advocacy 

community, it’s hard not 

to think about David and 

Goliath. There is a clear 

imbalance of funding and 

outreach capacity, and 

this is in regard to what is probably one of the 

biggest genetic condition advocacy organizations. 

Smaller advocacy groups who rely on parent 

volunteers to get out information about rarer 

genetic conditions have little opportunity to be 

heard. Numerous authors have discussed the 

need for varying degrees of federal regulation 

over genetic engineering,226 and genetic testing 

is no different in its potential to negatively impact 

the disability community and leave parents with 

less capacity for making informed reproductive 

choices.

Genetic Testing and the Rush to Perfection 79
80 National Council on Disability
Conclusion

Many would consider having and raising 

a child as one of the most hopeful 

acts in which humans can engage. 

Childbearing is an act of hope not only because 

of the dreams parents hold for their children, but 

because from conception onwards, so much of 

the process is out of the hands of individuals, 

families and societies. We cannot fully 

predetermine how a particular child, or any child, 

will turn out. Every parent just tries their best, 

and we have no choice 

but to hope. Genetic 

testing in itself, and even 

the genetic editing 

potential that has arisen 

with evolving clustered 

regularly interspaced 

short palindromic 

repeats (CRISPR) 

technology, has not changed the fundamental 

truth that we cannot predetermine how our 

children will turn out. Nonetheless, genetic 

testing is deeply impacting what we understand 

as every parent’s “best.”

We have seen a repeating pattern with gene 

technologies: technological breakthrough, we 

get closer to genetic engineering, we worry 

about the implications, someone “goes rogue” 

and performs a new genetic operation on a 

human being or beings. There is outrage and 

discussion and renewed attempts to draw some 

kind of ethical guideline in the sand. And then 

the pattern repeats all over again when, not if, 

another scientist makes another breakthrough 

or goes rogue. It’s fair to say that as this pattern 

continues, we are all—internationally and in 

the United States—coming closer to editing 

out the genetic components that result in a 

wide range of disabilities. In the process, we 

are also likely editing 

out DNA elements 

that may control or 

influence a myriad of 

characteristics that could 

potentially be critical 

to human survival. For 

all our technological 

sophistication, the 

human race seems no closer to finding ways to 

equalize the position of people with disabilities, 

as well as other medically underserved groups, 

within the ethical, social, and legal debate 

around these technologies. There is also the 

contradiction inherent in wielding choice for 

women as the motivation for increasing genetic 

testing, but failing to support and implement 

policies that would achieve equal opportunities 

for employment, meet long-term care needs, 

Genetic testing in itself, and even 

the genetic editing potential that 

has arisen .. has not changed t

fundamental truth that we cannot 

predetermine how our children will 

turn out

Genetic Testing and the Rush to Perfection 81
and ensure effective healthcare to people with 

disabilities, as well as increase support for 

families of children with disabilities.227 These 

latter actions would give women greater 

choice to continue a pregnancy of a fetus with 

disabilities. Choice involves making private 

decisions among equally viable alternatives, 

which is not the case if pregnant women are 

simply expected to assent to genetic testing, 

and are potentially judged for failing to terminate 

a pregnancy that implicates greater healthcare 

needs and costs.

82 National Council on Disability
Recommendations

Congress

■ Develop enforceable Sunshine and Conflict-of-Interest laws that will bring transparency 

to any financial relationships between genetic counselors, providers, and commercial 

laboratories.

■ Fund the Prenatally and Postnatally Diagnosed Conditions Awareness Act, Pub. L. No. 110-374, 

122 Stat. 4051 (2008).

■ Incentivize the development of educational units on disability experience and exposure in 

genetic counselor education.

Department of Health and Human Services (HHS)

HHS, National Institutes of Health

■ Establish standing relationships with disability advocacy organizations and include individuals 

from them on genetic advisory panels.

■ Encourage the attendance of advocates and representatives from disability communities at 

biomedical conferences by offering scholarships that reduce or cover fees and expenses.

HHS, Centers for Medicare and Medicaid Services

■ Recognize genetic counselors as health professionals who can receive reimbursement 

through Medicare and incentivize Medicaid payments for genetic counseling as an 

independent healthcare service rather than only reimbursing genetic testing.

(continued)

Genetic Testing and the Rush to Perfection 83
Department of Health and Human Services (HHS), continued

HHS, Food and Drug Administration

■ End enforcement discretion and regulate LDTs, specifically, Noninvasive Prenatal 

Screening (NIPS) to establish and enforce standards for the accuracy of any claims 

made by prenatal genetic testing entities, and proactively work with the Federal Trade 

Commission to oversee marketing by genetic testing entities.

Federal Trade Commission

■ Actively oversee the marketing claims and practices of prenatal genetic testing companies 

as more tests with questionable clinical validity and utility enter the market as part of the 

“standard” testing panels that companies offer.

Equal Employment Opportunity Commission

■ EEOC should leave wellness rules as they are now (May 2019) or, if EEOC does revise 

them, the agency should clarify that no financial incentives or penalties are permitted to 

induce employees to disclose health and genetic information.

State Legislatures

■ If genetic testing, and especially NIPS, is funded as a Medicaid service, the state should also 

ensure Medicaid funding for neutral genetic counseling before and after testing takes place.

■ Where state Medicaid programs cover prenatal genetic testing, the state should ensure 

that it collects voluntarily provided information on patient demographics, including disability 

status, outcomes, and the quality of genetic counseling received before the testing, if any. 

(continued)

84 National Council on Disability
State Legislatures, continued

Genetic Testing and the Rush to Perfection 85

This information will allow states and researchers to assess the use and results of prenatal 

genetic testing as a publicly insured service over time.

■ Consider enacting legislation, like that pending in California, that clarifies that no financial 

inducements are allowed for participating in or providing data to a workplace wellness program.

Professional Organizations, and Training Accreditation Bodies of 

Healthcare Providers Engaged in Genetic Counseling, such as the 

Genetics Society of America (GSA); American College of Medical 

Genetics (ACMG); American Board of Medical Genetics (ABMG);

American Board of Genetic Counselors (ABGC); and the Association of 

Professors of Human and Medical Genetics (APHMG)

■ Clarify that disability education and cultural awareness extends beyond examining best 

practices for effectively communicating with patients with disabilities and includes a social 

and civil rights context for understanding disability.

■ Ensure that the materials used for provider and patient education are passed through a 

consensus group of reimbursed stakeholders, including representatives from affected 

disability communities, to minimize the outsized influence of industry and investors in 

prenatal genetic testing.

■ Professional standards of care for offering NIPS and other prenatal genetic tests should be 

established through consensus negotiations that include genetic counselors, obstetrics 

and gynecology care providers, and representatives from affected disability communities. 

Genetic testing entities should not be allowed to market or provide specific genetic tests 

that have not been vetted through a professional organization using a consensus process.

■ Ensure that online and printed materials used for provider and patient education are fully 

communication accessible to people with a range of disabilities and diverse linguistic and 

cultural backgrounds.

■ The Accreditation Council for Genetic Counselling (ACGC) must make disability education 

and cultural awareness mandatory and more consistent among genetic counselor 

programs, within a reasonable range of time and resources. The same holds true of 

professional ongoing education.
Genetic Testing Researchers

■ Propose ways to achieve better data over time to determine the link between prenatal 

testing outcomes and various factors in the field of genetic testing such as counseling, 

cultural conditions, social expectations, and social determinants of health for particular 

disability communities.

■ Research the relationship between women’s choices after receiving pre-test counseling 

and after undergoing genetic testing, and how choices are affected by the kinds of genetic 

counseling information provided, who delivers it, and who is paying for the counseling.

86 National Council on Disability
Endnotes

1 ACOG offers a “Frequently Asked Questions” document on prenatal genetic diagnostic tests that provides a 

glossary with succinct definitions for common scientific terms used in genetic testing at https://www.acog

.org/Patients/FAQs/Prenatal-Genetic-Diagnostic-Tests.

2 Francis Bacon is credited with writing “Knowledge is power” in 1597. John Bartlett, Familiar Quotations, 

10th ed. (Boston: Little, Brown, 1919), 168. Thomas Jefferson is known to have used variants of this quotation 

in his own writing as follows: “Knowledge is power . . . knowledge is safety . . . knowledge is happiness.” 

However, Jefferson’s use related to the establishment of an institution of higher education in Virginia rather 

than an abstract homage to the acquisition of information. “Knowledge Is Power (Quotation),” Thomas 

Jefferson Encyclopedia, Thomas Jefferson’s Monticello, accessed April 12, 2019, https://www.monticello.org/

site/jefferson/knowledge-power-quotation.

3 Joel Feinberg is probably the best-known proponent of the idea that children have a right to “an open future” 

and parents need to preserve as much as possible their child’s future capacities and choices. Joel Feinberg, 

“The Child’s Right to an Open Future,” in Philosophy of Education: An Anthology, ed. Randall R. Curren 

(Blackwell, 2007).

4 Erik Parens and Adrienne Asch, “The Disability Rights Critique of Prenatal Genetic Testing: Reflections and 

Recommendations,” Special Supplement, Hastings Center Report 29, no. 5 (September–October 1999): S1–S22.

5 With respect to the use of and reliance on post-birth genetic testing to identify genetic markers for disabilities, 

popular understandings may reflect in part a desire to prevent the future burden of disability and in part a desire 

to avoid hiring, insuring, or otherwise dealing with people with disabilities and the perceived burdens they 

bring. For likely a minority of persons, pre- and post-birth genetic testing may be pure information gathering that 

facilitates planning for the anticipated services and supports that a person with disabilities could need.

6 See for example Sarah Overmohle, “Scientists from 7 Countries Call for Global Ban on Heritable Gene 

Edits,” Politico, March 13, 2019, https://www.politico.com/story/2019/03/13/nih-ban-gene-edit-dna-1220544; 

Donna Dickenson and Marcy Darnovsky, “Did a Permissive Scientific Culture Encourage the ‘CRISPR Babies’ 

Experiment?” Nature Biotechnology, March 15, 2019, https://www.nature.com/articles/s41587-019-0077-3; 

Tara R. Melillo, “Gene Editing and the Rise of Designer Babies,” Vanderbilt Journal of Transnational Law 50 

(May 2017). Calls for non-binding international declarations as a means of mediating the use of CRISPR-Cas9 

to edit DNA in human embryos.

7 Anna Zaret, “Editing Embryos: Considering Restrictions on Genetically Engineering Humans,” Hastings Law 

Journal 67 (August 2016): 1834.

8 Zaret, “Editing Embryos,” 1839.

9 See, for example, Erik Parens, Paul Appelbaum, and Wendy Chung, “Embryo Editing for Higher IQ Is a 

Fantasy. Embryo Profiling for It Is Almost Here,” STAT, February 12, 2019, https://www.statnews.com/2019/

02/12/embryo-profiling-iq-almost-here; Usha Lee McFarling, “Bad Press About Genetic Engineering Could 

Scare Off Those Who Would Benefit Most,” Los Angeles Times, March 6, 2019, https://www.latimes.com/

opinion/op-ed/la-oe-mcfarling-genetic-engineering-dna-sickle-cell-20190306-story.html.

10 Debra Miller, “Why My Patient Advocacy Organization Is Investing in CRISPR,” STAT, February 8, 2019, 

https://www.statnews.com/2019/02/08/crispr-gene-editing-duchenne-investment.

11 Parens and Asch, “The Disability Rights Critique,” S17–S18.

12 Silvia Yee et al., “Compounded Disparities: Health Equity at the Intersection of Disability, Race, and Ethnicity,” 

paper presented at the National Academies of Sciences, Engineering, and Medicine Roundtable Workshop 

on The Intersections Among Health Disparities, Health Equity, and Health Literacy, Washington, DC, 

Genetic Testing and the Rush to Perfection 87
June 14, 2016, 3–9, http://nationalacademies.org/hmd/Activities/SelectPops/HealthDisparities/

Commissioned-Papers/Compounded-Disparities.

13 For people with disabilities who have had to fight for an equal place in society, the fundamental question 

raises many additional ones concerning who is “us”? Is it a simple majority of people? Is it “healthy” people 

or those who bear no genetic markers for disease? Is it those who can afford the technology? Is it those who 

sell the new technology? Is it scientists and doctors, or is it every one of us, making individual decisions in the 

face of imperfect knowledge, social and cultural expectations, and the illusion that we control our fate?

14 Parens and Asch, “The Disability Rights Critique,” S1.

15 Parens and Asch, “The Disability Rights Critique,” S4.

16 Parens and Asch, “The Disability Rights Critique,” S5.

17 “Facts About Down Syndrome,” Centers for Disease Control and Prevention, United States Department 

of Health and Human Services, last updated February 15, 2018, https://www.cdc.gov/ncbddd/birthdefects/

downsyndrome.html.

18 National Down Syndrome Society, Down Syndrome Fact Sheet (National Down Syndrome Society, 2017), 

http://www.ndss.org/wp-content/uploads/2017/08/NDSS-Fact-Sheet-Language-Guide-2015.pdf.

19 James E. Kucik et al., “Trends in Survival Among Children with Down Syndrome in 10 Regions of the United 

States,” Pediatrics 131, no. 1 (January 2013): e27–e36. http://doi.org/10.1542/peds.2012-1616.

20 “Facts About Down Syndrome,” Centers for Disease Control and Prevention.

21 National Down Syndrome Society, Down Syndrome Fact Sheet.

22 M. A. Ferguson-Smith, “Amniocentesis” in Sydney Brenner and Jefferey H. Miller (Eds.), Encyclopedia of 

Genetics (Academic Press, 2001), 60.

23 “Facts About Down Syndrome,” Centers for Disease Control and Prevention.

24 National Down Syndrome Society, Down Syndrome Fact Sheet.

25 Samantha E. Parker et al., “Updated National Birth Prevalence Estimates for Selected Birth Defects in the 

United States, 2004–2006,” Clinical and Molecular Teratology 88, no. 12 (December 2010):1008–16.

26 Mark W. Leach, “ACOG Issues New Prenatal Testing Guidelines,” Prenatal Information Research Consortium, 

April 29, 2016, https://prenatalinformation.org/2016/04/29/acog-issues-new-prenatal-testing-guidelines.

27 Gert de Graaf, Frank Buckley, and Brian G. Skotko, “Estimates of the Live Births, Natural Losses, and Elective 

Terminations with Down Syndrome in the United States,” American Journal of Medical Genetics 167, no. 4 

(April 2015): 756–67.

28 Practice Bulletin No. 162 on Prenatal Testing for Genetic Disorders and Practice Bulletin No. 163 on Screening 

for Fetal Aneuploidy, issued in 2016, respectively, explore the current range of prenatal genetic testing 

and prenatal genetic screening. Each bulletin recommends that prenatal testing and prenatal screening be 

offered to all pregnant women, regardless of age, and also recommends both pre-test and post-test genetic 

counseling. ACOG practice bulletins are not mandatory, but they can be evidence of a current professional 

standard of care for administering prenatal testing, and it has been pointed out that insurers can and have 

cited ACOG practice bulletins to justify coverage determinations. Leach, “New Prenatal Testing Guidelines.”

29 Jessica Wakeman, “The Debate over Terminating Down Syndrome Pregnancies,” Healthline, August 29, 2017, 

https://www.healthline.com/health-news/the-debate-over-terminating-down-syndrome-pregnancies#6.

30 Wakeman, “The Debate.”

31 Amy Julia Becker, “True or False: 90% of Babies with Down Syndrome Are Aborted,” Thin Places (blog), 

Christianity Today, April 13, 2015, https://www.christianitytoday.com/amyjuliabecker/2015/april/true-or-false-90-

of-babies-with-down-syndrome-are-aborted.html.

32 More recent studies that have followed women’s choices after NIPS have tended to have small sample 

sizes and very specific research questions such as the impact of NIPS on twin pregnancies or in public 

national health programs. These studies, conducted in countries that included the United States, the 

United Kingdom, China, Taiwan, Spain, France, and Singapore, seem to indicate that pregnancy termination 

rates after NIPS has detected the likelihood of Down syndrome have either not changed or have possibly 

88 National Council on Disability
decreased compared to historical termination rates. The authors note that real termination rates themselves 

vary widely among countries, and more conclusive trends will only be established with population-based 

studies. See Melissa Hill et al., “Has Noninvasive Prenatal Testing Impacted Termination of Pregnancy 

and Live Birth Rates of Infants with Down Syndrome?” Prenatal Diagnosis 37, no. 13 (2017): 1281–90, 

doi:10.1002/pd.5182.

33 Jaime L. Natoli et al., “Prenatal Diagnosis of Down Syndrome: A Systematic Review of Termination Rates 

(1995–2011),” Prenatal Diagnosis 32, no. 2 (February 2012): 142–53, https://doi.org/10.1002/pd.2910.

34 Amy Harmon “Prenatal Test Puts Down Syndrome in Hard Focus,” New York Times, May 9, 2007, 

https://www.nytimes.com/2007/05/09/us/09down.html.

35 Tamara Pursley, interview with Erin Shea, March 18, 2019. 

36 Timothy Heleniak and Hjördis Rut Sigurjonsdottir, “Once Homogenous, Tiny Iceland Opens Its Doors to 

Immigrants,” Migration Information Source, April 18, 2018, https://www.migrationpolicy.org/article/oncehomogenous-tiny-iceland-opens-its-doors-immigrants.

37 Heleniak and Sigurjonsdottir, “Once Homogenous.”

38 Emma Jane Kirby, “Iceland’s DNA: The World’s Most Precious Genes?” BBC News Magazine, June 19, 2014, 

https://www.bbc.com/news/magazine-27903831.

39 Kirby, “Iceland’s DNA.”

40 Kirby, “Iceland’s DNA.”

41 Kirby, “Iceland’s DNA.”

42 Kirby, “Iceland’s DNA.”

43 In contrast, approximately 1 in 25 Americans adults currently has access to personal genetic data, primarily 

obtained through the purchase of direct-to-consumer genetic analysis for ancestral or health reasons. Antonio 

Regaldo, “2017 Was the Year Consumer DNA Testing Blew Up,” MIT Technology Review, February 12, 2018, 

https://www.technologyreview.com/s/610233/2017-was-the-year-consumer-dna-testing-blew-up.

44 Parens and Asch, “The Disability Rights Critique,” S2.

45 Harmon, “Down Syndrome in Hard Focus.”

46 Janet Malek, “Disability and the Duties of Potential Parents,” St. Louis University Journal of Health Law and 

Policy 119, no. 2 (2008): 131–33.

47 Pursley telephone interview with Erin Shea, March 18, 2019.

48 Adam Wolfberg, “Why So Many Babies Are Still Being Born with Down Syndrome,” Atlantic, April 1, 2012, 

https://www.theatlantic.com/health/archive/2012/04/why-so-many-babies-are-still-being-born-with-downsyndrome/254869.

49 Wolfberg, “Born with Down Syndrome.”

50 Wolfberg, “Born with Down Syndrome.” Quote from email correspondence with Jaime L. Natoli, a senior 

consultant in the department of clinical analysis at the Southern California Permanente Medical Group.

51 Lauren C. Sayres et al., “Demographic and Experiential Correlates of Public Attitudes Towards Cell-Free Fetal 

DNA Screening,” Journal of Genetic Counseling 23, no. 6 (December 2014): 957–67.

52 Sayres et al., “Fetal DNA Screening.”

53 Dr. Kara Ayers, interview with Silvia Yee, February 27, 2019.

54 Dr. Kara Ayers, interview with Silvia Yee, February 27, 2019.

55 Dr. Kara Ayers, interview with Silvia Yee, February 27, 2019.

56 Dr. Kara Ayers, interview with Silvia Yee, February 27, 2019.

57 Dr. Kara Ayers, interview with Silvia Yee, February 27, 2019.

58 Dr. Kara Ayers, interview with Silvia Yee, February 27, 2019.

59 See, for example, the website of the Harmony prenatal test at https://www.harmonytestusa.com/expectingparents/finding-clarity. The site includes selected quotations from the guidelines of professional societies such 

as ACMG and ACOG but little or no discussion of how to raise or handle ethical discussions or how to provide 

context for the results obtained from the test.

Genetic Testing and the Rush to Perfection 89
60 Other genetic conditions that involve having an extra full or partial copy of a chromosome are Edwards syndrome 

(chromosome 18), and Palau Syndrome (chromosome 13). While the accuracy of NIPS for chromosomal 

conditions is high, it is worth noting how this was not always the case. In 2009, the company delayed launching 

its blood test due to mishandling of data from in-house clinical trials. After making claims that their product 

identified 100 percent of the Down syndrome cases in 200 samples, with no false negatives, Sequenom was 

forced to walk back its claims, admitting, for example, that “they were getting a number of ‘no calls,’ meaning 

that the test was showing neither a positive nor a negative result. . . . And once tests from women of different 

ethnicities were added to the sample, the no-call percentage went up to around 10 percent.” David Washburn, 

“The Fallout from Sequenom’s Big Blunder,” Voice of San Diego, May 12, 2009, https://www.voiceofsandiego

.org/topics/science-environment/the-fallout-from-sequenoms-big-blunder.

61 Washburn, “Sequenom’s Big Blunder.”

62 Washburn, “Sequenom’s Big Blunder.”

63 Dina Fine Maron, “What Fetal Genome Screening Could Mean for Babies and Parents,” Scientific American, 

January 15, 2014, https://www.scientificamerican.com/article/what-fetal-genome.

64 Megan Molteni, “How Much Prenatal Genetic Information Do You Actually Want?” Wired, March 27, 2019, 

https://www.wired.com/story/how-we-reproduce-testing.

65 “Not surprisingly, the demographic profile of genetic counselors broadly reflects the patient population 

they serve, i.e., middle to upper middle class well-educated white women. We have more or less been the 

socioeconomic, physical, and ethical mirror images of our patients.” Robert Resta, “Demographics and the 

Future of Genetic Counseling,” The DNA Exchange, November 14, 2010, https://thednaexchange.com/2010/

11/14/demographics-and-the-future-of-genetic-counseling.

66 Haley K. Sullivan, “Noninvasive Prenatal Whole Genome Sequencing: Pregnant Women’s Views and 

Preferences,” Obstetrics and Gynecology 133, no. 3 (March 2019): 525–32, https://journals.lww.com/

greenjournal/Abstract/2019/03000/Noninvasive_Prenatal_Whole_Genome_Sequencing_.16.aspx.

67 Betsy L. Gammon et al., “Decisional Regret in Women Receiving High Risk or Inconclusive Prenatal Cell-Free 

DNA Screening Results,” Journal of Maternal-Fetal and Neonatal Medicine, October 1, 2018, https://doi.org/

10.1080/14767058.2018.1519541.

68 Gammon et al., “Decisional Regret.”

69 Mark Leach, “New Down Syndrome Prenatal Test Not FDA-Approved,” Down Syndrome Prenatal Testing, 

September 11, 2014, http://www.downsyndromeprenataltesting.com/new-down-syndrome-prenatal-test-notfda-approved. [FDA informed NCD that despite its enforcement discretion, it monitors the LDT landscape and 

has taken action to address a significant public health risk. For example, the FDA recently issued a warning 

letter to a lab for illegally marketing pharmacogenetic tests that have not been reviewed by the FDA for safety 

and effectiveness following issuance of a safety communication (https://www.fda.gov/medical-devices/safetycommunications/fda-warns-against-use-many-genetic-tests-unapproved-claims-predict-patient-responsespecific) warning the public about the availability of concerning tests.

70 Centers for Medicare and Medicaid Services, CLIA Overview (Centers for Medicare and Medicaid Services, 

2013), https://www.cms.gov/regulations-and-guidance/legislation/clia/downloads/ldt-and-clia_faqs.pdf.

71 “Regulation of Genetic Tests,” National Human Genome Research Institute, last updated January 17, 2018, 

https://www.genome.gov/10002335.

72 Please refer to CMS CLIA’s FAQ page for information regarding their oversight of laboratory operations. 

https://www.cms.gov/Regulations-and-Guidance/Legislation/CLIA/Downloads/LDT-and-CLIA_FAQs.pdf

73 For an explanation of the distinction between cell-free placental and cell-free fetal DNA, see Mark Leach, 

“When Cell Free Fetal DNA Isn’t,” Down Syndrome Prenatal Testing, March 26, 2013, http://www.down

syndromeprenataltesting.com/when-cell-free-fetal-dna-isnt.

74 There is an additional third criteria for evaluating diagnostic tests, clinical utility, which determines whether the 

test provides information that can lead to actionable outcomes such as diagnosis, treatment, management, 

90 National Council on Disability
or prevention that will improve health. “Regulation of Genetic Tests,” National Human Genome Research 

Institute.

75 See “How It Works,” Invitae Corporation, accessed April 12, 2019, https://www.invitae.com/en/patients/

how-it-works.

76 See “How It Works: Reproductive Genetic Testing,” Invitae Corporation, accessed April 12, 2019, 

https://www.invitae.com/en/patients/how-it-works/reproductive/.

77 ACOG’s latest guidelines on carrier screening are a little more nuanced. ACOG Committee Opinion No. 690 

(March 2017, reaffirmed 2019) states that “All patients who are considering pregnancy or are already 

pregnant, regardless of screening strategy and ethnicity, should be offered carrier screening for cystic 

fibrosis and spinal muscular atrophy, as well as a complete blood count and screening for thalassemias and 

hemoglobinopathies.” Additional screening may be raised depending on specific ethnicity or family history. 

See “ACOG Committee Opinion No. 690,” American College of Obstetricians and Gynecologists, March 2017, 

https://www.acog.org/Clinical-Guidance-and-Publications/Committee-Opinions/Committee-on-Genetics/CarrierScreening-in-the-Age-of-Genomic-Medicine. ACOG Committee Opinion No 691 (March 2017) states that 

“Information about genetic carrier screening should be provided to every pregnant woman. After counseling, 

a patient may decline any or all screening.” See “ACOG Committee Opinion No. 691,” American College 

of Obstetricians and Gynecologists, March 2017, https://www.acog.org/Clinical-Guidance-and-Publications/

Committee-Opinions/Committee-on-Genetics/Carrier-Screening-for-Genetic-Conditions. There is a difference 

between recommending information about carrier screening for all individuals, and recommending carrier 

screening itself for all individuals.

78 “Regulation of Genetic Tests,” National Human Genome Research Institute.

79 FDA response to NCD’s request for a technical review of this section of report.

80 FDA response to NCD’s request for a technical review of this section of report.

81 Federal Trade Commission, “Direct-to-Consumer Genetic Tests,” last updated February 2018, https://www

.consumer.ftc.gov/articles/0166-direct-consumer-genetic-tests.

82 Federal Trade Commission, “Direct-to-Consumer Genetic Tests.”

83 Molteni, “How Much Prenatal Genetic Information.”

84 Henry T. Greely, “Get Ready for the Flood of Fetal Gene Screening,” Nature 469 (January 20, 2011): 289–91.

85 Bret D. Asbury, “Fostering Informed Choice: Alleviating the Trauma of Genetic Abortions,” Cornell Journal of 

Law and Public Policy 25 (Winter 2015): 325–26.

86 Virginia Hughes, “Pregnant Women Are Finding Out They Have Cancer from a Genetic Test of Their Babies,” 

Buzzfeed News, March 5, 2015, https://www.buzzfeed.com/virginiahughes/pregnant-women-are-finding-outthey-have-cancer-from-a-genet#.jkRvKyY0K.

87 Lindsay M. Monte and Renee R. Ellis, Fertility of Women in the United States: 2012 Population Characteristics

(US Department of Commerce, Economics and Statistics Administration, US Census Bureau, July 2014).

88 George Estreich, “Selling Tests, Selling Treatments: A Few Reflections on Medical Advertising,” Biopolitical 

Times (blog), Center for Genetics and Society, December 18, 2013, https://www.geneticsandsociety.org/

biopolitical-times/selling-tests-selling-treatments-few-reflections-medical-advertising.

89 George Estreich, “Anatomy of a Webpage, Part 3: Selling ‘Peace of Mind,’” Biopolitical Times (blog), Center 

for Genetics and Society, November 13, 2012, https://www.geneticsandsociety.org/biopolitical-times/

anatomy-webpage-part-3-selling-peace-mind.

90 Ruth M. Farrell et al., “Online Direct-to-Consumer Messages About Non-Invasive Prenatal Genetic Testing,” 

Reproductive Biomedicine and Society Online 1, no. 2 (December 2015): 88–97, https://www.sciencedirect

.com/science/article/pii/S2405661816000034#!.

91 Farrell et al., “Online Direct-to-Consumer Messages.”

92 Farrell et al., “Online Direct-to-Consumer Messages.”

93 Farrell et al., “Online Direct-to-Consumer Messages.”

Genetic Testing and the Rush to Perfection 91
94 Farrell et al., “Online Direct-to-Consumer Messages.”

95 See Coalition for Access to Prenatal Screening, 2018, https://capsprenatal.com.

96 See “Sponsorship Opportunities,” Women in Government, 2018, https://www.womeningovernment.org/

partner/other-opportunities.

97 Lettercase is part of the National Center for Prenatal and Postnatal Resources and offers accurate, up-to-date, 

balanced, and medically reviewed information about multiple genetic conditions in multiple languages. See 

“History,” Lettercase, accessed April 12, 2019, https://www.lettercase.org/about/history. Lettercase will be 

further discussed in the case study.

98 Stephanie Meredith, personal interview with Silvia Yee, April 1, 2019.

99 “Review Explains Nuances of Non-Invasive Prenatal Screening for Pregnant Women,” News Medical Life 

Sciences, November 3, 2017, https://www.news-medical.net/news/20171103/Review-explains-nuances-of-noninvasive-prenatal-screening-for-pregnant-women.aspx.

100 “Although the group as a whole does not accept every claim in the disability community’s critique of prenatal 

testing, we do wholeheartedly endorse its central recommendation to reform how genetic information is 

communicated to prospective parents. . . . If genetic professionals learn more about what raising disabled 

children can mean, rethink their approach to parents, and help those parents better imagine what a child’s 

disability might mean for their family, then some progress will be made in honoring the disability rights 

movement’s central message that our society must be able to value people and lives of many different sorts.” 

Parens and Asch, “The Disability Rights Critique,” S 21.

101 Parens and Asch, “The Disability Rights Critique,” S21.

102 Katie A. Stoll et al., “Conflicts of Interest in Genetic Counseling: Acknowledging and Accepting,” Genetics in 

Medicine 19, no. 8 (August 2017): 864–66, https://www.nature.com/articles/gim2016216.

103 “Genetic Counselors,” Occupational Outlook Handbook, Bureau of Labor Statistics, last updated April 12, 

2019, https://www.bls.gov/ooh/healthcare/genetic-counselors.htm.

104 Allen Dobson et al., Projecting the Supply and Demand for Certified Genetic Counselors: A Workforce Study

(Vienna, VA: Dobson DaVanzo and Associates, September 7, 2016), ES1–2, https://www.abgc.net/abgc/media/

documents/dobson-davanzo-report-to-nsgc_final-report-9-6-16.pdf.

105 Dobson et al., Projecting the Supply, ES2.

106 Dobson et al., Projecting the Supply, ES2–3.

107 For a comprehensive examination of the development of the genetic counseling profession in the United 

States, see Alexandra Minna Stern, Telling Genes: The Story of Genetic Counseling in America (Baltimore: 

Johns Hopkins University Press, 2012), 248.

108 Legal commentators have discussed various aspects of how “wrongful” conception, birth, and life cases may 

prompt doctors and other providers to refer patients who are pregnant or who wish to become pregnant for a 

maximum number of prenatal genetic tests, to avoid a subsequent charge that a doctor’s failure to refer rises 

to the level of medical negligence. See, for example, Paul L. Barber, “Prenatal Diagnosis: An Ethical and a 

Regulatory Dilemma,” Houston Journal of Health Law and Policy 13 (Fall 2013): 329–51.

109 Katie Stoll et al., “Genetic Counselors, Genetic Interpreters, and Conflicting Interests,” Bill of Health (blog), 

Harvard Law School, March 9, 2017, http://blog.petrieflom.law.harvard.edu/2017/03/09/genetic-counselors

-genetic-interpreters-and-conflicting-interests.

110 Katie Stoll, interviews with Silvia Yee, February 28 and March 6, 2019.

111 “Videos,” Natera, 2019, https://my.natera.com/services/resources.

112 “Should I Have Prenatal Genetic Testing?” Natera, 2019, video, https://my.natera.com/services/resources.

113 “Should I Have Prenatal Genetic Testing?” Natera, 2019, video, https://my.natera.com/services/resources.

114 Andrew Pollack, “Conflict Potential Seen in Genetic Counselors,” New York Times, July 13, 2012, https://www

.nytimes.com/2012/07/14/business/conflict-potential-seen-in-genetic-counselors-paid:by-testing-companies

.html.

115 Pollack, “Conflict Potential.”

92 National Council on Disability
116 Pollack, “Conflict Potential.”

117 Pollack, “Conflict Potential.”

118 Pollack, “Conflict Potential.”

119 Pollack, “Conflict Potential.”

120 Pollack, “Conflict Potential.”

121 Accreditation Council for Genetic Counseling, Standards of Accreditation for Graduate Programs in Genetic 

Counseling (Accreditation Council for Genetic Counseling, February 13, 2013), https://www.gceducation.org/

wp-content/uploads/2018/12/Standards-Final-approved-Feb-2013.pdf.

122 Parens and Asch, “The Disability Rights Critique,” S20.

123 Personal correspondence with Katie Stoll, April 18, 2019.

124 Personal correspondence with Katie Stoll, April 18, 2019.

125 Anne C. Madeo et al., “The Relationship Between the Genetic Counseling Profession and the Disability 

Community: A Commentary,” American Journal of Medical Genetics 155, no. 8 (August 2011): 1777–85.

126 Madeo et al., “The Relationship Between,” 1777–85.

127 Madeo et al., “The Relationship Between,” 1777–85.

128 The social desirability bias “refers to the tendency of research subjects to give socially desirable 

responses instead of choosing responses that are reflective of their true feelings.” See Pamela Grimm, 

“Social Desirability Bias,” Wiley Online Library (December 15, 2010) at https://onlinelibrary.wiley.com/doi/

full/10.1002/9781444316568.wiem02057.

129 Madeo et al., “The Relationship Between,” 1777–85.

130 Madeo et al., “The Relationship Between,” 1777–85.

131 Clare Wilson, “Exclusive: A New Test Can Predict IVF Embryos’ Risk of Having a Low IQ,” New Scientist

(November 15, 2018), https://www.newscientist.com/article/mg24032041-900-exclusive-a-new-test-canpredict-ivf-embryos-risk-of-having-a-low-iq.

132 Wilson, “Exclusive: A New Test.”

133 Wilson, “Exclusive: A New Test.”

134 Wilson, “Exclusive: A New Test.”

135 The competition wouldn’t be arising from the United Kingdom, which only allows genetic testing of embryos 

for more straightforward conditions and not for polygenically identified conditions. See Wilson, “Exclusive: 

A New Test.”

136 Wilson, “Exclusive: A New Test.” This paper does not endorse the implicit assumption that higher intelligence 

is desirable, but counteracted by the undesirable chance that a child will be autistic.

137 See News Staff, “Scottish Woman Has Lived Her Life Pain-Free.” In late March 2019, news about a 71-yearold woman in Scotland who did not feel physical pain or anxiety and had accelerated healing circulated 

widely, based on the publication of a research paper in the British Journal of Anaesthesia. The woman did not 

undergo genetic testing until her 60s when a doctor noticed her limited pain response. He “found two notable 

mutations. One was a microdeletion in a pseudogene, previously only briefly annotated in medical literature, 

which the researchers have described for the first time and dubbed FAAH-OUT. She also had a mutation in the 

neighboring gene that controls the FAAH enzyme. Both genetic mutations are being studied because of their 

potential for leading to new chronic pain and anxiety treatments.

138 News Staff, “Scottish Woman Has Lived Her Life Pain-Free.”

139 Sonia M. Suter, “The Tyranny of Choice: Reproductive Selection in the Future,” Journal of Law and the 

Biosciences 5, no. 2 (August 2018): 262–300, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121058.

140 Carolyn Jacobs Chachkin, “What Potent Blood: Non-Invasive Prenatal Genetic Diagnosis and the 

Transformation of Modern Prenatal Care,” American Journal of Law and Medicine 33 (2007): 9–53.

141 Chachkin, “What Potent Blood.”

142 See Cheryl A. Camillo, “The US Healthcare System: Complex and Unequal,” Global Social Welfare, 3 (2016): 

151 at https://doi.org/10.1007/s40609-016-0075-z; Nancy Tomes, “The Origins of a Complex American Health 

Genetic Testing and the Rush to Perfection 93
Care System,” Here and Now, WBUR, March 27, 2017, https://www.wbur.org/hereandnow/2017/03/27/

health-care-system-origins.

143 Erica Sanborn and Annette R. Patterson, “Disability Training in the Genetic Counseling Curricula: Bridging the 

Gap Between Genetic Counselors and the Disability Community,” American Journal of Medical Genetics 164, 

no. 8 (May 2014): 1909–15, https://doi.org/10.1002/ajmg.a.36613.

144 Kenneth A. Gerhart et al., “Quality of Life Following Spinal Cord Injury: Knowledge and Attitudes of Emergency 

Care Providers,” Annals of Emergency Medicine 23, no. 4 (April 1994): 807–12, https://doi.org/10.1016/S0196-

0644(94)70318-3.

145 Jeffrey D. Edwards et al., “Pediatric Resident Attitudes Toward Caring for Children with Severe Disabilities,” 

American Journal of Physical Medicine and Rehabilitation 89, no. 9 (September 2010): 765–71, http://doi

.org/10.1097/PHM.0b013e3181ec9936.

146 Erica Check Hayden, “Should You Edit Your Children’s Genes,” Nature 530 (25 February 2016): 402–5, 

doi:10.1038/530402a.

147 Liam Sigaud, “Life Saving Gene Therapies Are Here—We Need to Get Them to Patients,” The Hill, February 

20, 2019, https://thehill.com/opinion/healthcare/430737-life-saving-gene-therapies-are-here-we-need-to-getthem-to-patients.

148 Sigaud, “Life Saving Gene Therapies Are Here.”

149 Pub. L. No. 110-374, 122 Stat. 4051 (2008).

150 Bret D. Asbury, “Fostering Informed Choice: Alleviating the Trauma of Genetic Abortions,” Cornell Journal of 

Law and Public Policy 25 (Winter 2015): 293–333.

151 Asbury, “Fostering Informed Choice,” 314.

152 Prenatally and Postnatally Diagnosed Conditions Awareness Act, Pub. L. No.110–374, § 2(1)–(3), 122 Stat. 4051, 

4051 (2008).

153 PPDCA, § 280 g-8(b)(1)(B)(i)–(v).

154 The 17 states that enacted laws similar to PPDCA between 2012 and the present are Delaware, Florida, 

Illinois, Indiana, Kentucky, Louisiana, Maine, Maryland, Massachusetts, Minnesota, Nebraska, New Jersey, 

Nebraska, Ohio, Pennsylvania, Tennessee, and Washington. Virginia and Missouri’s laws predate the PPDCA. 

The Lettercase webite has a page that provides links to many of the state laws and fact sheets, https://www

.lettercase.org/issues/state-laws/.

155 Asbury, “Fostering Informed Choice,” 315, n. 115.

156 See Ky. Rev. Stat. Ann. § 211.192 (2013).

157 La. Rev. Stat. Ann. § 40:1300.392(A)(3) (2014).

158 Wakeman, “The Debate over Terminating.”

159 Wakeman, “The Debate over Terminating.”

160 Tex. Health & Safety Code Ann. §§ 161.651-161.653 (West)

161 Wakeman, “The Debate over Terminating.”

162 Tex. Health & Safety Code Ann. § 161.652(b)(1)(B) (West).

163 29 U.S.C. § 794; 42 U.S.C. § 12182.

164 Note that disability rights law in itself does not necessarily protect or dictate what happens with genetic 

information. The Health Insurance Information and Portability Accountability Act (HIIPA) does not necessarily 

or automatically cover purely private business entities.

165 Thomas Sullivan, “Physician Payments Sunshine Act Final Rule: Quick Reference Act,” Policy and Medicine

(May 2018) at https://www.policymed.com/2013/02/physician-payment-sunshine-act-final-rule-quick-referenceguide.html.

166 Physician Payments Sunshine Act, 42 C.F.R. § 403.

167 “Sunshine Act,” Conflicts of Interest, Oregon Health Sciences University, accessed April 15, 2019, 

https://www.ohsu.edu/xd/about/services/integrity/coi/gifts/sunshine-act.cfm.

94 National Council on Disability
168 Abigail Lauren Perdue, “Justifying GINA,” Tennessee Law Review 78 (Summer 2011): 1051–1117 (quoting Lori 

Andrews, “Body Science,” ABA Journal 83, no. 4 [April 1997]: 44–45).

169 Bradley A. Areheart and Jessica L. Roberts, “GINA, Big Data, and the Future of Employee Privacy,” Yale Law 

Journal 128 (January 2019): 710–90.

170 Laurie A. Vasichek, “Genetic Discrimination in the Workplace: Lessons from the Past and Concerns for the 

Future,” St. Louis University Journal of Health Law and Policy 3 (2009): 13–39.

171 Perdue, “Justifying GINA,” 1076.

172 Vasichek, “Genetic Discrimination,” 14.

173 Vasichek, “Genetic Discrimination,” 20.

174 Vasichek, “Genetic Discrimination,” 20–21.

175 Vasichek, “Genetic Discrimination,” 22.

176 Vasichek, “Genetic Discrimination,” 23.

177 Vasichek, “Genetic Discrimination,” 24. The terms of two settlements, one in 2001 and a second in 2002, 

can be found in the EEOC’s press releases at https://www1.eeoc.gov//eeoc/newsroom/release/4-18-01.

cfm?renderforprint=1 and https://www.eeoc.gov/eeoc/newsroom/release/5-8-02.cfm.

178 Areheart and Roberts, “Future of Employee Privacy,” 719–23.

179 Areheart and Roberts, “Future of Employee Privacy,” 719.

180 Perdue, “Justifying GINA,” 1095.

181 Areheart and Roberts, “Future of Employee Privacy,” 719.

182 Public Law No. 110-233, § 2.

183 42 U.S.C. § 2000ff et seq.

184 Areheart and Roberts, “Future of Employee Privacy,” 730–31.

185 Areheart and Roberts, “Future of Employee Privacy,” 751.

186 Areheart and Roberts, “Future of Employee Privacy,” 743–44.

187 Areheart and Roberts, “Future of Employee Privacy,” 740–42, 751–55.

188 United States Department of Justice, “Justice Department Reaches Settlement with the City of Minneapolis 

to Resolve Disability and Genetic Information Complaint,” news release no. 18-1050, August 14, 2018, https://

www.justice.gov/opa/pr/justice-department-reaches-agreement-city-minneapolis-resolve-disability-and-genetic.

189 Emily Friedman, “Pamela Fink Says She Was Fired After Getting a Double Mastectomy to Prevent Breast 

Cancer,” ABC News, April 30, 2010, https://abcnews.go.com/Health/OnCallPlusBreastCancerNews/pamelafink-fired-testing-positive-breast-cancer-gene/story?id=10510163.

190 JoAnn Volk and Sabrina Corlette, Premium Incentives to Drive Wellness in the Workplace: A Review of the 

Issues and Recommendations for Policymakers (Georgetown University Health Policy Institute, February 

2012), 3.

191 Karen Pollitz and Matthew Rae, Changing Rules for Workplace Wellness Programs: Implications for Sensitive 

Health Conditions (Kaiser Family Foundation, April 2017), 2–3.

192 For GINA, see 42 U.S.C. § 2000ff-1(b)(2), 29 C.F.R. § 1635.8(b)(2)(i)(A), (c)(2). For ADA, see 42 U.S.C. § 12112(d)

(4)(A), (d)(4)(B), EEOC Enforcement Guidance on Disability-Related Inquiries and Medical Examinations of 

Employees Under the Americans with Disabilities Act (July 27, 2000).

193 29 C.F.R. § 1635.8(b)(2).

194 81 Fed. Reg. 31143 (May 17, 2016) (GINA), 81 Fed. Reg. 31126 (May 17, 2016) (ADA).

195 AARP v. EEOC, 267 F. Supp.3d 14 (D.D.C. 2017).

196 H.R. 1313, Preserving Employee Wellness Programs Act, introduced March 2, 2017, 115th Cong., 1st Sess.

197 Ariz. Rev. Stat. Ann. § 41-1463(B)(3); Ark. Code Ann. § 11-5-403 (West); Cal. Gov’t Code § 12940 (West); 

Conn. Gen. Stat. Ann. § 46a-60 (West); Del. Code Ann. tit. 19, § 711 (West); Fla. Stat. Ann. § 448.075-448.076 

(West); Haw. Rev. Stat. Ann. § 378-2 (West); Idaho Code Ann. § 39-8303 (West); 410 Ill. Comp. Stat. Ann. 

513/25; Iowa Code Ann. § 729.6 (West); Kan. Stat. Ann. § 44-1009 (West); La. Stat. Ann. § 23:368; Me. 

Genetic Testing and the Rush to Perfection 95
Rev. Stat. tit. 5, § 19302; Md. Code Ann., State Gov’t § 20-606 (West); Mass. Gen. Laws Ann. ch. 151B, 

§ 4(19) (West); Mich. Comp. Laws Ann. § 37.1202 (West); Minn. Stat. Ann. § 181.974 (West); Mo. Ann. Stat. 

§ 375.1306 (West); Neb. Rev. Stat. Ann. § 48-236 (West); Nev. Rev. Stat. Ann. § 613.345 (West); N.H. Rev. 

Stat. Ann. § 141-H:3; N.J. Stat. Ann. § 10:5-12 (West); N.M. Stat. Ann. § 24-21-4(D) (West); N.Y. Exec. Law 

§ 296 (McKinney); N.C. Gen. Stat. Ann. § 95-28.1A; Okla. Stat. Ann. tit. 36, § 3614.2 (West); Or. Rev. Stat. 

Ann. § 659A.303 (West); 28 R.I. Gen. Laws Ann. § 28-6.7-1 (West); S.D. Codified Laws § 60-2-20; Tex. Labor 

Code Ann. § 21.402 (West); Utah Code Ann. § 26-45-103 (West); Vt. Stat. Ann. tit. 18, § 9333 (West); Va. 

Code Ann. § 40.1-28.7:1 (West); Wash. Rev. Code Ann. § 49.44.180 (West); Wis. Stat. Ann. § 111.372 (West); 

D.C. Code Ann. § 2-1402.11 (West).

198 Del. Code Ann. tit. 19, § 711(e) (West).

199 42 U.S.C. § 2000ff-1(b).

200 Kan. Stat. Ann. § 44-1009.

201 Md. Code Ann., State Gov’t § 20-606(a)(3) (West).

202 Fla. Stat. Ann. § 448.075-448.076 (West).

203 D.C. Code Ann. § 2-1402.11(a)(4)(C) (West).

204 Mich. Comp. Laws Ann. § 37.1202(4) (West).

205 Mich. Comp. Laws Ann. § 37.1202(2) (West).

206 Fla. Stat. Ann. § 448.103 (West); 410 Ill. Comp. Stat. Ann. 513/40; Iowa Code Ann. § 729.6 (West); La. Stat. 

Ann. § 23:303; N.H. Rev. Stat. Ann. § 141-H:6; N.J. Stat. Ann. § 10:5-38 (West); N.M. Stat. Ann. § 24-21-6 

(West); N.Y. Exec. Law § 297(9) (McKinney); 28 R.I. Gen. Laws Ann. § 28-6.7-3 (West); S.D. Codified Laws 

§ 60-2-20; Utah Code Ann. § 26-45-105 (West); Va. Code Ann. § 40.1-28.7:1 (West); Vt. Stat. Ann. tit. 18, 

§ 9335 (West); D.C. Code Ann. § 2-1403.16 (West).

207 Del. Code Ann. tit. 19, § 714(a) (West); Md. Code Ann., State Gov’t § 20-1013 (West); Mass. Gen. Laws Ann. 

ch. 151B, § 9; Nev. Rev. Stat. Ann. § 613.420 (West); Tex. Labor Code Ann. § 21.252-21.254 (West).

208 Ariz. Rev. Stat. Ann. § 41-1481; Cal. Gov’t Code § 12960 (West); Conn. Gen. Stat. Ann. § 46a-82 (West); 

Del. Code Ann. tit. 19, § 712-713 (West); Haw. Rev. Stat. Ann. § 378-4 (West); Kan. Stat. Ann. § 44-1005 

(West); Me. Rev. Stat. tit. 5, § 19302; Md. Code Ann., State Gov’t § 20-1004 (West); Mass. Gen. Laws Ann. 

ch. 151B, § 5; Nev. Rev. Stat. Ann. § 613.405 (West); N.Y. Exec. Law § 297(1) (McKinney); Or. Rev. Stat. Ann. 

§ 659A.820 (West); Tex. Labor Code Ann. § 21.201 (West); Wis. Stat. Ann. § 111.39 (West); D.C. Code Ann. 

§ 2-1403.04 (West).

209 Ark. Code Ann. § 11-5-404 (West); Idaho Code Ann. § 39-8304 (West); Mo. Ann. Stat. § 375.1306 (West); 

N.C. Gen. Stat. Ann. § 95-4, § 95-13; N.M. Stat. Ann. § 24-21-6 (West); Okla. Stat. Ann. tit. 36, § 3614.2 

(West); Utah Code Ann. § 26-45-106 (West); Vt. Stat. Ann. tit. 18, § 9335 (West).

210 410 Ill. Comp. Stat. Ann. 513/25(e).

211 410 Ill. Comp. Stat. Ann. 513/25(e).

212 410 Ill. Comp. Stat. Ann. 513/40.

213 42 U.S.C. § 2000ff-1(b)(2)(C) and (D).

214 A.B. 648, 2019 Leg., 2019-2020 Reg. Sess. (Cal. 2019).

215 A.B. 648, 2019 Leg., 2019-2020 Reg. Sess. (Cal. 2019).

216 A.B. 648, 2019 Leg., 2019-2020 Reg. Sess. (Cal. 2019).

217 A.B. 648, 2019 Leg., 2019-2020 Reg. Sess. (Cal. 2019).

218 A.B. 648, 2019 Leg., 2019-2020 Reg. Sess. (Cal. 2019).

219 A.B. 648, 2019 Leg., 2019-2020 Reg. Sess. (Cal. 2019).

220 Dickenson & Darnovsky, “Permissive Scientific Culture”; Rob Stein, “World Health Organization Forms 

Committee to Guide Editing of Human Genes,” NPR, February 14, 2019, https://www.npr.org/sections/healthshots/2019/02/14/694710663/world-health-organization-forms-committee-to-guide-editing-of-human-genes

96 National Council on Disability
221 Adrienne Asch, “Disability Equality and Prenatal Testing: Contradictory or Compatible?” Florida State 

University Law Review 30 (Winter 2003): 315–41, 341.

222 Stephanie Meredith, interview with author, April 1, 2019.

223 The United Kingdom exercises greater control of in-vitro fertilization (IVF) than the United States, with an 

independent government agency that oversees human fertility and research. UK regulations include a list of 

several hundred conditions, most relatively rare, for which PDG may be used, and new conditions are added 

periodically.

224 Priya Lalvani and Lauren Polvere, “Historical Perspectives on Studying Families of Children with Disabilities: 

A Case for Critical Research,” Disability Studies Quarterly (February 2019), http://dsq-sds.org/article/view/

3209/3291. Proposes “the use of narrative inquiry, theoretically grounded in sociocultural perspectives, as 

a critical research methodology for exploring the experiences of families of children with disabilities in a 

meaningful way.”

225 Lettercase’s primary grant funder is the Joseph P. Kennedy, Jr. Foundation.

226 See, for example, Shawna Benston, “CRISPR, a Crossroads in Genetic Intervention: Pitting the Right to Health 

Against the Right to Disability.” Laws 5, no. 1 (February 18, 2016). https://www.mdpi.com/2075-471X/5/1/5/

htm; Anna Zaret, “Editing Embryos: Considering Restrictions on Genetically Engineering Humans.” Hastings 

Law Journal 67 (August 2016): 1805–39; Michael R. Dohn, “Preventing an Era of ‘New Eugenics’: An Argument 

for Federal Funding and Regulation of Gene Editing Research in Human Embryos.” Richmond Journal of Law & 

Technology 25, no. 2 (2018): 1–46.

227 Deborah Pergament, “What Does Choice Really Mean?: Prenatal Testing, Disability, and Special Education 

Without Illusions,” Health Matrix: The Journal of Law-Medicine 23 (Spring 2013): 55.

Genetic Testing and the Rush to Perfection 97
National Council on Disability 

1331 F Street, NW, Suite 850 

Washington, DC 20004