## PURPOSE OF MEETING

Following a preliminary meeting to orient the members on December 19,
2006, the purpose of this first official meeting was to receive and
review informational presentations on issues and projects related to the
charge of the Workgroup.

## KEY TOPICS

### 1. Summary of the December Meeting

A summary of the orientation meeting in December was distributed by
e-mail prior to January 4.

### 2. Introductory Remarks

Judy Sparrow, AHIC Director, summarized the rules for the Workgroup's
operations. In compliance with the rules of the Federal Advisory
Committee Act, all work will be conducted in public, with meeting
transcripts and summaries a part of the public record. Documents will be
posted on the AHIC Web page, where future meetings will be announced.
Members of the public are invited to listen to the Web broadcasts and a
time at the end of each meeting is allocated for public input. The
Personalized Healthcare (PHC) Workgroup is advisory to the AHIC, which
makes recommendations to the Department of Health and Human Services
(HHS) Secretary. HHS is responsible for implementing those
recommendations that are accepted. The Workgroup meetings are to be
conducted in such a way as to build consensus. Recommendations are
expected to reflect consensus.

Co-chairs John Glaser and Douglas Henley restated the specific and broad
charges of the Workgroup.

**Specific Charge within the 12- to 18-month time frame**

Make recommendations to the AHIC on the establishment of standards for
reporting and incorporating genomic tests data into electronic health
records (EHRs) and suggest incentives to encourage adoption of these
standards. Genomic testing is becoming a routine part of the health care
process, and standards are needed for use by the Federal Government and
the private sector. The Workgroup also will consider privacy issues as
well as how to reach consensus across diverse groups and interests on
standards.

**Broad Charge within the 2- to 3-year time frame**

Make recommendations to the AHIC for the incorporation of genetic
laboratory test data into EHRs and for the development and incorporation
of analytical tools to support clinical decision-making at the point of
care for the health care provider and patient. This builds upon the
overall AHIC goal of interoperability.

Workgroup members had no comments or questions regarding their charge.

Prior to the beginning of the presentations, meeting participants
introduced themselves, citing their current and past affiliations and
briefly describing their interests and expertise related to the charge
of the Workgroup.

### 2. Background Presentations

PowerPoint presentations are available at the AHIC Website.

**Personalized Health Care Overview by Gregory Downing**

Dr. Downing's PowerPoint presentation described Secretary Mike Leavitt's
priorities for personalized health care. Health information technology
(HIT) is a cross-cutting issue. His goal is to provide consumers and
health care providers the means to make the delivery of health care more
informed, individualized, and effective and to increase the choices
presented to patients. His two-year objective is to establish concepts
and priorities that support health care system transformation.

The PHC Workgroup has an important role in that transformation -- making
recommendations for the adoption of standards for the inclusion of
genetic test information in EHRs. The integration of HIT and genomic
information will be transformative in its practice, as shown in the
personalized health care pyramid.

![](media/image1.jpeg){width="2.4055555555555554in"
height="2.448611111111111in"}HHS staff uses the term "genomics" in a
broader context to mean not only DNA sequence but other features,
including proteins, as being able to determine more mechanistically the
basis in which health and disease have their origins. Complementing that
are the advances in HIT, which make possible the aggregation and use of
information.

Dr. Downing went on to review the history of the HHS planning process,
which spanned a nine-month period. Various retreats, meetings, and
discussions were held to promote the exchange of information across
agencies on HIT activities, culminating in the decision at the September
AHIC meeting to form a Workgroup dedicated to personalized healthcare
issues.

In November, the Secretary released a Request for Information (RFI)
soliciting opinions and ideas about the health care delivery system's
engagement in personalized healthcare planning. HHS staff also has
engaged in community outreach activities with a number of patient
advocate groups, and has been collecting information with the goal of
developing a report for the Secretary relatively soon after the
completion of the RFI on February 5. These information gathering
activities are expected to assist with the identification of emerging
opportunities, risks, and benefits for the incorporation of genetic test
information into EHRs. Information is being obtained on the respective
concerns of patients, physicians, and other providers as well as how
data are being exchanged in ways that are meaningful and contribute to
better health care.

Practical applications of medical genomic tests are already emerging for
risk assessment, confirmatory diagnostic testing, and the selection of
appropriate therapy. Many health care providers report that they fear
the day in which genomic test information becomes a mainstay diagnostic
test; they say that they do not have sufficient information or knowledge
to use the information.

One of the advantages of genomic testing is that the structure of the
genome provides a fairly simple lexicon of terminologies that can be
used to describe unique sequences in our DNA. Furthermore, digital
quality matches fairly well the exchange of digital information. A
harmonized nomenclature system widely used for genes and diseases is
continuing to evolve.

Efforts are underway by various groups to develop standards for
technology platforms, whether for registration and market entry or for
clinical diagnostic frameworks with laboratory applications. These
efforts will facilitate the incorporation of the laboratory test data
into genetic records and EHRs.

Dr. Downing summarized the Secretary's goals:

1\. Link clinical and genomic information to support personalized health
care by establishing an interoperable public/private data network of
networks to deliver information on individual medical outcomes and
linking findings to genetic laboratory tests and establishing a common
pathway for data integration through personal EHRs.

2\. Support the appropriate use of genetic laboratory tests in medical
practice by encouraging policies and practices that provide sufficient
protections to consumers that genetic test information is used for their
medical benefit and providing oversight of genetic testing to ensure
analytical and clinical validity.

He concluded by mentioning the several advisory groups whose charge is
related to the Workgroup and then described ongoing activities of the
National Institutes of Health (NIH), the National Library of Medicine
(NLM), the Food and Drug Administration (FDA), and other agencies.

**Nationwide Health Information Network (NHIN) Overview by John Loonsk,
Office of Interoperability and Standards Director**

Dr. Loonsk presented an overview of the responsibilities and activities
of the HHS Office of the National Coordinator for Health Information
Technology (ONC). The national HIT agenda is about not only the
establishment of standards but also the adoption and implementation of
standards. This process constitutes a cycle or series of continuing
cycles. The AHIC has identified opportunities for adoption or
breakthroughs, which in turn have led to the establishment of a
workgroup. The workgroups have developed three use cases to articulate
the problems so that various other aspects of this national apparatus
can work on them.

The three use cases focus on (1) consumer empowerment, a use case about
registration information and medication history; (2) provider use of
electronic lab results reporting; and, (3) in the area of population
health, a use case around using clinical care data for public health
biosurveillance. The EHR Workgroup recently requested another use case
on emergency responders' use of EHRs. ONC is anticipating that the AHIC
will prioritize three additional use cases at the January meeting.

The NHIN is concerned with facilitating the movement of data between the
different organizations in the network to advance the broad HIT agenda
of having information follow the consumer and available for clinical
decision-making.

This year the activities of the NHIN focused on these use cases. Four
different consortia developed prototype architectures for how the
different organizations involved in health care could connect to,
transmit, and share data. Software development was contracted and the
new software systems will be demonstrated at the January AHIC meeting.
In 2007, the NHIN will engage directly with State and regional health
information exchanges in the context of trial implementations; a new
request for proposals soon will be announced to implement these trials.

Another part of this process is the Health Information Technology
Standards Panel (HITSP), which is addressing several classic standards
issues. HITSP is taking the AHIC use cases and harmonizing the standards
associated with them. Another issue is identifying standards gaps, which
is related to the charge of the PHC Workgroup. It is not necessarily
HITSP's role to fill standards gaps, but rather to identify them and
work with standards bodies to fill those gaps. A third classic problem
with standards is that their specificity has not been always adequate to
accomplish easy interoperability or easy exchange.

Another issue is certification criteria. In 2006, certification criteria
for ambulatory care EHRs were developed and tested. The certification
commission has subsequently certified some 35 ambulatory care EHRs. This
year the focus will be on certification for inpatient EHRs as well as
specialty ambulatory care EHRs. Next year certification work will focus
on updating ambulatory care and inpatient EHRs, as well as on network
certification criteria.

Following the presentation, Dr. Loonsk answered several questions. In
response to a query about whether the use cases dealt with adult or
pediatric cases, he said that the use cases to date have not been
sufficiently specific to differentiate between adult and pediatric
medicine. That level of specificity is expected to occur at the
standards harmonization stage; if there is a standard relevant in the
pediatric domain to fulfilling the use case but not in the adult domain,
or vice versa, that will be articulated.

In response to a question about how standards are adopted, Dr. Loonsk
acknowledged the tension between encouraging the development of
standards and using HITSP to make sure that there is a valid process for
anointing the standards to be used. HITSP includes some 260
participating organizations. Not all the standards activities are about
harmonization; working with standards development organizations to make
sure the standards are available is important as well. He also clarified
that the work on standards does not include quality issues or quality
standards for laboratory testing. LOINC is widely accepted for
laboratory standards.

A process question was raised: "Given that the membership of the
Workgroup overlaps with other AHIC groups and various other advisory
groups, how should these relationships be exploited?" The Co-chairs
suggested that this question be addressed during the February meeting
when the Workgroup members will begin to delineate tasks and a roadmap
for completing them. Once the tasks have been identified, members can
determine how best to leverage the variety of professional relationships
represented in the group.

Finally, Dr. Loonsk clarified that HITSP has bylaws and an established
process for making decisions. The Certification Commission for Health
Information Technology is a public-private process. The NHIN has
sponsored a series of activities to obtain public input.

**Standards and Best-practice Guidelines Development by Janet
Warrington**

Dr. Warrington began by stating that her presentation was intended to
describe the activities related to genomic technology and the
development of standard controls and best practices in which she herself
was involved, many of which are upstream of the immediate goals of the
Workgroup. Most of these activities focus on RNA and DNA. She urged
caution in the use of the term "standards"; staff of the National
Institute of Standards and Technology avoids the use of the term as a
noun. They use it as an adjective, for example, as in "standards
controls." The term should be used only in reference to a very specific
work product.

She went on to describe the composition, process, publications, and
expected deliverables of the External RNA Controls Consortium, Clinical
and Laboratory Standards Institutes MM16 and MM17, the Clinical and
Laboratory Genomic and Genetic Standards Group, the Organization for
Economic Cooperation and Development Biotechnology Industry Advisory
Committee, the Working Party on Biotechnology, the MicroArray Quality
Control Project, the E.U. Project EMERALD, and the Microarray Gene
Expression Data Society.

**Ontology and Standards Development at NLM by Betsy Humphreys**

Ms. Humphreys referred Workgroup members to an NLM Web page, which
contains information about the library's participation in various
standards development efforts. NLM provides financial support and makes
certain clinical terminology standards freely available for use, in some
cases within the United States and in other cases internationally,
including SNOMED Clinical Terms (CT) and LOINC. The LOINC group is
interested in expanding LOINC to accommodate the transmission of genetic
tests data for clinical reporting.

SNOMED CT is undergoing a transition in ownership from the College of
American Pathologists to an international health data standards
organization. That new organization will work with LOINC to clarify
areas of responsibility between the two standards groups.

Marc Williams noted that current coding systems, such as ICD9 or -10 and
SNOMED CT, are inadequate from the perspective of genetic disorders. Ms.
Humphreys said that the change in the ownership of SNOMED likely will
improve that situation. The Workgroup is in a position to promote action
on the issue. SNOMED has not always had the resources and expertise to
deal with genetics testing. Andy Wiesenthal said that Kaiser Permanente
has expanded the SNOMED terms for internal use.

Tim O'Leary, Department of Veterans Affairs, questioned whether SNOMED
is capable of dealing with the characterization of a whole human genome.
A mutation nomenclature working group, more or less associated with the
Human Rights and Governance umbrella, is working on some of these
problems. He suggested that the Workgroup inform itself about the
activities of this group.

**Health Level Seven (HL7) Activities by Grant Wood*,* Clinical Genetics
Institute, Intermountain Health**

Dr. Wood explained the Institute's goal is to link genomic and family
medical history data to the EHR to provide advanced genetics-based tools
for the clinician. Basic questions are, "How do we store genomic data?",
"What data do we store?", and, "What format would be the most useful for
the clinician?"

HL7 is an international community of health care clinical and
informatics experts collaborating to create standards for the exchange,
management, and integration of electronic health care information. The
HL7 and clinical genomics mission is to create standards for
communication between clinical and genomic data. The focus of the
clinical genomics work is the personalization of the genomic data and
linking these data to clinical information. He explained how this might
work.

The genotype model describes various types of genomic data relating to a
chromosomal locus, and is proposed to be the basic unit of genomic
information exchange in health care built with personalized medicine in
mind. The entry port of the model consists of a genotype locus but also
will store individual alleles; biosequencing data such as DNA, RNA, or
proteins; sequence variations like mutations, single nucleotide
polymorphisms, and haplotypes; genoexpression data; and related clinical
phenotypes such as diseases and allergies.

An important design characteristic is that this is a shared model or
reusable component which works regardless of use case. At the same time,
it allows the representation of fine-grained rod genomic data, thus
accommodating the more complex use cases such as high-resolution tissue
typing, somatic mutations, personalized expression profiles, or genomic
based clinical trials.

The clinical phenotype in the model is an actual observation valid for
the patient. The genotype model also will work for pharmacogenomic-based
clinical trials and submissions. Dr. Wood believes that any integration
of genomic data in the EHR must include the raw sequence data. Because
our knowledge of the interpretation of clinically significant variants
or mutations is being updated constantly, we need to have the full
sequence data with every test result.

The genotype model is designed from the ground up to provide dynamic
reporting of data for clinical decision support. The EHR could inquire
about genetic testing for CYP2C9 or VKORC1, which are the two genes that
have the largest impact on warfarin dose. If the testing has been done,
the program uses an evidence-based algorithm to determine a starting
dose.

If the genotype information is not available, the physician is prompted
to order the test. The resulting sequence data from the test can be
encapsulated in any format. Last fall the clinical genomics group became
involved with the AHIC EHR Workgroup. Family history made the top 10
priority list of that Workgroup. Today, genomic information is not
sufficient to make predictions for one's future health. However, because
family history can include environmental and cultural factors, Dr. Wood
believes that it is the best tool to start with in personalized
medicine. Genomic information can be added as it comes online.

An HL7 model for family pedigree also exists and a number of
applications are in use. The Avon Comprehensive Breast Evaluation Center
at Mass General has incorporated the family history model into a cancer
risk application. The Harvard Partners Center for Genetics and Genomics
stores genetic data in its electronic medical records (EMRs). Most
health care providers will use external reference laboratories for
genetic testing. In order for structured test results to transfer in
these cases, interfaces will need to be established between laboratories
and provider organizations. Intermountain Health Care and Harvard
Partners currently are collaborating to establish an inter-institutional
interface for passing structured genetic results.

The interface will enable further testing of these standards and may
serve as a prototype for other organizations. The goal is to create
interoperability across the country.

**Confidentiality, Privacy and Security (CPS) Workgroup by Jodi Daniel,
Office of Policy and Research**

Dr. Daniel is the ONC Director of Policy and Research. Privacy and
security of health information is one of the prominent issues at ONC.
She summarized the basis for the establishment of the CPS Workgroup and
described its relationship to the PHC Workgroup. The CPS Workgroup was
formed in May 2006 at the recommendation of three of the initial AHIC
Workgroups -- Chronic Care, Consumer Empowerment, and EHR. The three
Workgroups found that they were discussing similar CPS issues but did
not have the expertise to make specific recommendations. They
recommended that the CPS Workgroup have representation from the National
Committee on Vital Health Statistics, provider groups, State public
health officials, Federal agencies, consumer groups, and technology.

The Broad Charge was to make recommendations to the Community regarding
the protection of personal health information, in order to secure trust
and support appropriate interoperable electronic health information
exchange. The CPS Workgroup began meeting in August 2006. Its first
topics were identity proofing and user authentication. Hearings were
held and the Workgroup members agreed to tackle patient identity
proofing first and left user authentication for a later time. Identity
proofing is the process of providing sufficient information, history,
credentials, and documents to establish and verify, correctly and
accurately, the identity of an individual for use in electronic
environments.

The first set of recommendations from the CPS Workgroup will be
considered by AHIC at the January 23 meeting. Dr. Daniel suggested that
as CPS issues are raised in the deliberations of the PHC Workgroup, the
Workgroup may defer to the CPS Workgroup or consult with it. An ongoing
dialogue is expected. Dr. Daniel indicated her intent to follow the
proceedings of the PHC Workgroup and to facilitate coordination as
necessary. In addition to coordination at the staff level, Deven McGraw
is a member of both workgroups.

Greg Downing then commented at length, explaining that ONC did not
intend to create specific rules to protect the CPS of laboratory tests;
rather, the interest was in overall protection of the EHR. However, new
technology and the feasibility of linking various information sources
have advanced since the enactment of the Health Insurance Portability
and Accountability Act (HIPAA). HHS staff is attempting to identify the
gaps in the current levels of protection. This is a complex area of
federal and state laws, regulations and statutes. The results of a gap
analysis are critical to both workgroups.

**De-identification of Data and Privacy Concerns by Amy McGuire**

Dr. McGuire began by defining several terms and referencing *The Stored
Tissue Issue* by Bob Weir and Robert Olick. Identified data is
information attached to traditional identifiers such as name, address,
Social Security number, and medical record number. When samples or
genetic DNA information are imbedded in the EMR and connected to
phenotypic information that would identify an individual easily, the
data are identified.

There are two ways to de-identify data. Data can be linked to
traditional identifiers through a numeric code, with the key to the code
secured and protected, or data can be made anonymous, meaning that they
cannot be linked to traditional identifiers. It has been assumed that
de-identification is an appropriate means of protecting privacy, but two
forms of protection for identifiable data come under the common rule for
research involving human subjects (45 CFR 46) and HIPAA. The common rule
applies to research involving human subjects, and a human subject is
defined as a living individual about whom an investigator obtains either
data through intervention or interaction with the individual, or
identifiable private information.

A 2004 Office for Human Research Protections guidance document stated
that genomic data are not identifiable under the common rule if the data
are collected in a coded fashion, and the investigator is prohibited
from deciphering the code. According to another 2004 HHS guidance
document, blood, tissue, and the results of an analysis of blood or
tissue are not in and of themselves considered individually identifiable
health information.

More recently, the questions have been raised on whether DNA is itself a
unique identifier and whether there needs to be some reconsideration of
what is considered identifiable in the case of genetic data that are not
linked to other types of identifying information.

Dr. McGuire referred to an article by Owen and Altman published in
*Science* in 2004. As the technology develops to secure data, it also
develops to breach security measures. She suggested that there are three
areas in which privacy protection can be increased. One is increased
data security. Another is legislation. Two different types of
legislation are relevant. The first is limiting access to genetic
information. One example of this is through HIPAA. If we broaden our
interpretations of what is identifiable, private, and protected health
information under HIPAA, access to genetic information could be limited.
There may be other State or Federal legislative mechanisms that could be
used as well.

The second type of legislation is prohibiting discrimination on the
basis of genetic information. Some States have prohibited both
employment and insurance discrimination on the basis of genetic
information.

The third avenue for increasing privacy protection is to do more around
consent. Well-designed consent processes and forms and an overall
transparency are essential in order to encourage people to participate
in genetic testing and genetic research. We should be open about what
the privacy risks are, to the extent that we know them, and should have
people decide voluntarily whether to assume those risks. The risks are
difficult to define, because we do not know what the future uses of
genetic information may be.

Discussion indicated that the information presented by Dr. McGuire
should be distributed to the CPS Workgroup. Dr. Daniel said that the
presentation raised issues of concern to both Workgroups. The more
technical issues related to genetics probably should remain under the
purview of the PHC Workgroup, but data security is included in the
charge of the CPS Workgroup. In any case, the workgroups will need to
coordinate.

Ms. Humphreys pointed out that DNA cannot be protected in a local
environment. NLM has been involved in activities to assist with DNA
identification of victims (World Trade Center and Katrina), and in
developing methods for quality control through the National Center for
Biotechnology Information.

Several members agreed that increased legal protection was both possible
and necessary, to protect against not only discrimination in employment
and health insurance but also forensic use and the possible
encroachments of Federal security initiatives.

Dr. McGuire pointed out that some institutions have established Internal
Review Board practices that are more protective than the interpretation
of the common rule.

### 3. Steps to begin Workgroup Deliberations

The next meeting is scheduled for February 21, 2007. The meeting is
expected to be interactive as members begin to delineate the overall
agenda and tasks for the Workgroup. Decisions about what to undertake
will be affected by the available staff resources.

The Co-chairs offered several topics for consideration at the next
meeting, beginning with the "standards agenda": the range of areas
(family history, transmission, and so on) in which standards should be
developed and applied, the landscape of standards, implementation of
standards, gaps in nomenclature; criteria for assessing standards,
criteria for framing the Workgroup's recommendations, standards to apply
to use cases, and privacy issues unique to the charge.

Other ideas included surveying existing standards efforts to identify
conflicting activities and conducting an environmental scan to identify
near-term advances in diagnostic tests or other genetic breakthroughs;
for example, the recent American College of Obstetricians and
Gynecologists recommendation for screening pregnant women for Down
syndrome. The Workgroup also needs to establish boundaries for its work
in order to know when the work is completed.

Dr. Williams asked that his use cases on family history be distributed
to the Workgroup members. Staff agreed to do so. Dr. Williams agreed to
assembly information on the current status of representation of family
history in the EHR.

> **Staff Action Item #1: The staff will work with the Co-chairs to
> prepare an agenda for the February meeting.**

### 4. Public Comments

None.

### 5. Adjournment

Rob Kolodner, the ONC Director, was present at the conclusion of the
meeting and thanked the participants for their willingness to serve on
the Workgroup. After covering all agenda items, the meeting adjourned at
3:45 p.m.

## SUMMARY OF ACTION ITEMS

> **Staff Action Item #1: The staff will work with the Co-chairs to
> prepare an agenda for the February meeting.**

**Meeting Materials**

Agenda

Proposed Workgroup Charges

Background Documents:

> Lin Zhen, Owen Art B., Altman Russ B. Genomic research and human
> subject privacy. *Science*. 2004 (305), 183.
>
> McGuire Amy L., Gibbs Richard A. No longer de-identified. *Science*.
> 2006 (312), 370--371.
>
> Shabo, Amnon. Clinical genomics data standards for pharmacogenetics
> and pharmacogenomics. *Pharmacogenomics*. 2006 (7), 247--253.

PowerPoint Presentations:

> *Personalized Healthcare Overview*, Gregory Downing
>
> *Personalized Healthcare - Operationalizing NHIN and Related
> Activities,* John Loonsk
>
> *Standard Controls and Best Practice Development for Genomic
> Technologies*, Janet Warrington
>
> *Related NLM Activities*, Betsy Humphreys
>
> *Introduction to HL7 Clinical Genomics*, Grant Wood
>
> *De-identification of Data and Privacy Concerns*, Amy McGuire

**[Personalized Healthcare Workgroup]{.underline}**

**[Members and Designees Participating in the Web
Conference]{.underline}**

*Co-chairs*

John Glaser Harvard Partners

Douglas Henley American Academy of Family Physicians

*Members*

Carolyn Clancy Agency for Healthcare Research and Quality

Beryl Crossley Quest Diagnostics

Paul Cusenza 23andME

Andrea Ferriera-Gonzalez Virginia Commonwealth University

Becky Fisher Patient Advocate

Felix Frueh FDA

Allan Guttmacher NIH/National Human Genome Research Institute

Kathy Hudson Genetics and Public Policy Center, Hopkins

Betsy Humphreys NLM

Charles Kennedy Wellpoint

Joel Kupersmith Department of Veteran Affairs

Stephen Matteson Pfizer

Deven McGraw National Partnership for Women and Families

Amy McGuire Baylor College of Medicine

Mark Rothstein University of Louisville

Steve Teutsch Merck

Janet Warrington Affymetrix

Andrew Wiesenthal Kaiser Permanente

Marc S. Williams Intermountain Health

*Office of the National Coordinator*

Gregory Downing Office of the Secretary, HHS

*Senior Advisors*

Michele Lloyd-Puryear HHS/Health Resources and Services Administration

> (newborn screening and followup)

Muin Khoury HHS/Centers for Disease Control and Prevention

Lisa Rovin FDA

*Alternates and others*

Jean Slutsky Agency for Healthcare Research and Quality

Perry Marr Partners Health Care

Grant Wood Intermountain Health

**Disclaimer:** *The views expressed in written conference materials or
publications and by speakers and moderators at DHHS-sponsored
conferences do not necessarily reflect the official policies of the
DHHS; nor does mention of trade names, commercial practices, or
organizations imply endorsement by the U.S. Government.*