## PURPOSE OF MEETING

The purpose of the all-day meeting, which was convened in Washington,
DC, as well as by Web conference, was to define the vision of the
Workgroup for 2017 and to begin to delineate a work plan. The meeting
was called to order at 9:08 a.m.

## KEY TOPICS

### 1. Visioning

The Co-chairs and various U.S. Department of Health and Humans Services
(HHS) staff welcomed the participants and reviewed the background of the
establishment of the Workgroup as well as the day's agenda. They thanked
participants for their interest and work. The Workgroup is advisory to
the Community in those areas in which genomic science and health
information technology (HIT) converge. The work of the Workgroup is one
of the Secretary's top priorities.

The goal of the meeting was said to be to obtaining full engagement and
participation of the members in developing the vision for the Workgroup.
Other workgroups have completed a similar process. Brainstorming is a
way to get all ideas and views on the table. Later, staff and Co-chairs
will distill the results of the meeting into a document that will be
circulated and discussed at the April meeting.

Mike Cowan, M.D., Medical Director, BearingPoint facilitated the
visioning process. In the weeks prior to the meeting, several drafts of
a vision document prepared by Kristin Brinner, Ph.D., 2006--2007 AAAS
Science and Technology Policy Fellow, HHS Immediate Office of the
Secretary, were distributed to the Workgroup members to assist them in
preparing for the meeting. Several members contributed to the
environmental scan, which was incorporated into the document. (Meeting
materials are available at
[www.hhs.gov/healthit/ahic/healthcare/phc_materials.html](http://www.hhs.gov/healthit/ahic/healthcare/phc_materials.html).)

The visioning process began by reviewing the broad and specific charges,
which had been presented to the members when the Workgroup was
established.

*Broad Charge.* Make recommendations to the AHIC for a process to foster
a broad, community-based approach to establish a common pathway based on
common data standards that encourage the incorporation of interoperable,
clinically useful genetic laboratory test data and analytical tools into
electronic health records to support clinical decision making for the
health care provider and patient.

*Specific Charge.* Make recommendations to the AHIC to consider means to
establish standards for reporting and incorporation of common medical
genomic test data into electronic health records and provide incentives
for adoption across the country, including Federal Government agencies.

Several members had questions concerning the wording of the charges and
suggested changes. One person expressed reservations about the use of
the word "encourage" in the charge. He opined that it is not necessarily
the role of providers and the government to "encourage"; rather, the
role should be to "facilitate" -- that is, to make the tools available
to individuals who then decide if they wish to use them. Another aspect
of facilitation would be to provide incentives for the adoption of
standards. Another member wanted to make a distinction between data
useful for treatment versus data that could be used to discriminate.
Another suggestion was to make "data standards" explicit in the specific
charge. Additionally, it was pointed out that population health is not
recognized in the charge (or the matrix).

#### Staff Action Item #1: Work with Co-chairs to consider the suggestions on modifying the charge statements and circulate a revised draft for consideration at the April meeting.

Greg Downing directed the group's attention to the matrix document,
which references 2017. It was noted that no one really knows what the
time frame will be. The matrix document is based on several additional
assumptions: (1) the generation of large-scale, individual-level genomic
data will be feasible in a few years; (2) protections for and limits on
the use of such information will be in place; (3) capabilities exist now
for linking large datasets, and the framework for analysis will be
available in the next few years; and (4) a personalized approach will be
possible.

In response to a question, Dr. Downing stated that the HHS is not making
a distinction between genetics and genomic data.

The facilitator initiated a structured brainstorming process. Referring
to the matrix document, he asked the participants to consider what would
be desirable to have in place by 2017 from the perspective of (1) the
consumer, (2) the provider, and (3) "other" stakeholders. Comments were
recorded on flip charts and staff will compile a complete listing for
incorporation into the next matrix document.

Beginning with the *consumers' perspective*, the participants had many
ideas, including ubiquitous real time access, understanding of the
importance of providing a "real" (no secrets) family history,
established and validated algorithms for personalized therapeutic
management, validated decision support, a consent process for sharing
information for different purposes, well-placed trust in the security
and regulation of their records and confidence in the integrity of
providers, inclusion of and access to environmental risk and exposure
information, control of access to information in the record, full
disclosure of genetic tests, useable information on possible treatments
and interventions, records that accommodate a family focus, and
interoperability of public health records (PHRs) and electronic health
records (EHRs) in order to provide the basis for patient-provider
discussions. Also desirable from the consumer perspective are the
following:

-   Consumers have the financial resources to act on the information in
    the PHR and be treated as an equal partner (in accordance with
    community-based research principles).

-   Health literacy is maximized.

-   Education is part of every component.

-   There is role-based control of information.

-   Consumers can distinguish genetic and genomic data.

-   There is a common vocabulary.

-   There are methods in place for consumers to detect incorrect and
    incomplete information.

-   Consumer access to providers is not limited by jurisdiction (State
    licensure issue).

-   Consumers are able to use the information in selecting health
    insurance.

    It was also noted that the information should be available for use
    in protecting and promoting population health.

Several members brought up the issue of genetic exceptionalism: Should
genetic information be isolated and treated differently from other
patient data? Is it possible to compartmentalize and block these data?

Several possible adverse outcomes to the increasing application of
personalized health care (PHC) were mentioned -- difficulty in dealing
with a very rapidly changing environment, consumer interest in and use
of PHR leading to further "tiering" and disparities, the cost that
limits financial access and drive up costs in general, and the lack of
infrastructure (professionals) to respond to the results of genetic
testing.

The group moved on to consider what would be desirable from the
*providers' perspective*. Dr. Cowan reminded them that many of the
aspects listed for consumers applied to providers as well; therefore, it
was not necessary to repeat characteristics previously mentioned.
Participants mentioned capability for risk-benefit analysis applied to
the individual patient, standardization and automation of data entry,
achievement/recognition of the balance between the science and the art
of medicine (not every decision can be made on the basis of algorithms),
reliable and usable data, and limits on the data that patients can enter
and change.

Participants went on to say that the type and use of information should
be payer independent; that information, not data, should be maximized;
that providers have developed competencies in understanding probability
and confidence; and that red flags appear at data entry to connect to
research findings and clinical protocols, interpretations of tests,
utility, and knowledge management guidance.

Many participants had ideas about the kinds of links to resources that
would be useful; e.g., direct access to other providers and triggers to
alert the provider to appropriate protocols. It was suggested that
agencies such as the National Institutes of Health (NIH), the National
Library of Medicine (NLM), and the Food and Drug Administration (FDA)
should be able to link updated information to the record system.
Additionally, there should be links with population health surveillance
systems. EHRs should be constructed in such a way as to make them
upgradeable to the next generation of HIT. A provider should be able to
use the EHR to obtain systematic feedback on how he/she is doing with
regard to quality of care and patient outcomes, as well as new metrics
based on personalized health care.

One member pointed out the importance of incorporating PHC into
reimbursement policy. The group also wanted EHRs to be constructed in
such a way that a user could differentiate between "no information" and
the absence of a condition or risk factor, as well as to facilitate
sharing information across family members. They were concerned about the
provider's responsibilities for and restrictions to sharing information
across family members as well as with the quality of algorithms -- for
example, who will be responsible for their development, testing, and
implementation? In particular, what about the obligation to follow up on
patient information collected at one point that becomes relevant at a
later point due to research findings?

Several members noted that as PHC moves into primary care, the primary
care provider (PCP) will have greater demands on her/his time and
resources. The gateway to getting a test covered by a third party payer
is based on the standard of care versus the experimental status of
various interventions. In order to expand coverage for genomic medicine,
documentation from clinical trials will be necessary.

The facilitator moved on to *"other" stakeholders*, such as researchers,
research subjects, public health officials, employers, EHR vendors,
workers, insurers (life, disability, long term care), advocates and
interest groups (disease groups, ethnic groups), law enforcement,
regulatory agencies, and family members. There was very little time to
explore this category. Nevertheless, participants named a number of
needs these stakeholders have for EHRs -- access for multiple
stakeholders, data repositories, denominator data, a consistent format
for the use of deidentified data, updating of algorithms, protections
for the identification of individuals from insurers and others,),
mechanisms for separating relevant from irrelevant data, capability to
provide and use information, access to information on clinical trials,
mechanisms for evaluating data quality, capacity for community-based
participatory research, capability to identify outbreaks, ability to
monitor safety of new products, regulation of the use of blood samples
to develop a new product, standards for quality, and resolution of the
issue of who will pay for EHRs and PHRs. (Some say that data mining will
be used to pay for a large proportion of the cost.)

Participant comments recognized that the needs of various stakeholder
groups were likely in conflict and frequently conflicted with the needs
of individual consumers and providers.

The facilitator then guided the participants to think about intermediate
goals -- what should be in place by 2012. Examples included the
following:

-   Family history is recorded in a standardized format.

-   Consumers can access data from clinical trials.

-   Point-of-care learning and decision support are established for
    providers.

-   There are well-defined mechanisms and protocols for evaluating data
    quality and quality control.

-   Researchers operate in accordance with principles of community-based
    participatory research.

-   Clear sets of standards, codes of conduct and tools for their
    enforcement are used.

-   Disease prevalence data are available.

-   Regulatory bodies are appropriately resourced.

-   Attention is paid to patent issues.

-   Data are used for continuous quality improvement research.

-   There is greater regulatory clarity around the potential roles of
    health plans, the pharmaceutical industry, and test manufacturers
    and how to collaborate to ensure that tests can be introduced to the
    clinical environment as quickly as possible.

-   Congress has passed legislation to protect CPS.

The Workgroup then turned to a discussion of how to achieve the desired
intermediate states. Several members pointed out that actions necessary
to move toward the desire states were not necessarily under the purview
of the PHC Workgroup. A partial listing of actions includes the
following:

-   By 2010, family history information will be represented in a
    standardized format that can be manipulated within an information
    system for use in clinical care and research.

-   Four recommendations from the National Committee on Vital and Health
    Statistics submitted June 22, 2006, were put forward: by April 1,
    2007, the HHS should investigate the feasibility of applying
    contextual access criteria to EHRs and limit the Nationwide Health
    Information Network (NHIN) enabling personal information disclosed
    beyond the health care setting on the basis of an authorization to
    the information reasonably necessary to achieve the purpose of the
    disclosure. The HHS should work with other Federal agencies and
    congress to ensure that privacy and confidentiality rules apply to
    all individuals and entities that create, compile, store, transmit,
    or use personal health information in any form and in any setting.
    The HHS should support legislative or regulatory measures to
    eliminate or reduce the potential harmful discriminatory effects of
    personal health information disclosure. The HHS should establish and
    support ongoing research to assess the effectiveness of and public
    confidence in the privacy, confidentiality, and security of the
    NHIN, and its components.

-   In 5 years, standards bodies are identified and their scope defined.
    The model for decision support is vetted. Trials or experiments on
    the delivery of genetic information to patients and the use of
    genetic information by providers are underway. (Participants
    referred to a number of areas for potential research.) PHC is
    delivered by multidisciplinary teams. A certified standard for PHR
    will be in place. Accommodations will have been made for low-income
    consumers to have PHR.

-   Within 5 years, oversight of genetic testing will be established and
    nondiscriminatory laws will be enacted. The risks of genetic
    information will the understood.

-   Over the next 5 years, several activities should be ongoing,
    including the engagement of the Association of American Medical
    Colleges in curriculum revisions, the engagement of the public in
    the excitement of PHC, and the revision of the elementary school
    curriculum to increase science and health literacy so that future
    consumers will be able to understand PHC.

Members were asked to e-mail any additional ideas to staff.

The discussion then moved on to barriers and obstacles anticipated in
reaching the desired future states**.** The following were mentioned:
lack of genetic literacy, excessive litigiousness, delay in HHS
regulation of rapidly developing products, low adoption, slow updating
of information for decision support, reimbursement policies that do not
reward adoption, and being overly cautious in the application of
knowledge.

Staff and Co-chairs will follow up today's visioning work. They will
draft and circulate a revised version of the vision document for
consideration at the April 17 meeting. By July, use cases will be
identified so that work on them can begin in the fall. More work and
discussion will be scheduled for privacy and decision support issues.
Staff and Co-chairs will propose a schedule for considering these and
other key issues. All of this will be coordinated with the ongoing work
of the other groups.

#### Staff Action Item #2: Work with Co-chairs to incorporate results of brainstorming and ideas submitted by e-mail subsequent to the meeting into another draft of the vision matrix. Circulate and obtain feedback prior to April meeting. Revise matrix and present for discussion and decisions at the April meeting.

**2. Commercial EHR Ecosystem**

Maren T. Scheuner, M.D., M.P.H., RAND Corporation, reviewed her interest
in policy and genetics and gave a PowerPoint presentation on Family
History and Genetic Tests in Electronic Health Records
([www.hhs.gov/healthit/ahic/healthcare/phc_materials.html](http://www.hhs.gov/healthit/ahic/healthcare/phc_materials.html)).
Dr. Scheuner reviewed the benefits of applying information from family
history. She summarized findings pertaining to how these data are
elicited, stored, analyzed, and used. The importance of asking the right
questions was emphasized. Results of several studies on how physicians
obtain and use family history information were summarized. She described
a recently initiated study on genomics and HIT designed to describe
current use and practices.[^1]

**3. Introduction to DoD AHLTA System**

Mark Hamra, M.D., Department of Defense (DoD) substituted for Nhan Do,
M.D., DoD**,** for a PowerPoint presentation on the DoD EHR
([www.hhs.gov/healthit/ahic/healthcare/phc_materials.html](http://www.hhs.gov/healthit/ahic/healthcare/phc_materials.html)),
which is in use worldwide. He described how data are used for bioterror
surveillance, disease management, population health, and symptom
surveillance. A typical weekly workload involves 642,000 professional
outpatient encounters. Tools are developed to allow building templates.
Sixty-eight percent of PCPs use the structured format. Patient input is
obtained via questionnaires and journaling. The DoD and the Department
of Veterans Affairs are working to coordinate patient data.

### 4. Next Steps

Kristin Brinner will receive comments and suggestions for the visioning
and revise the matrix. The next meeting is scheduled for April 17.

### 5. Public Comments

No member of the public sought to speak.

### 

### 6. Adjournment

The meeting adjourned at 2:57 p.m.

## 

## SUMMARY OF ACTION ITEMS

#### Staff Action Item #1: Work with Co-chairs to consider the suggestions on modifying the charge statements and circulate a revised draft for consideration at the April meeting.

#### 

#### Staff Action Item #2: Work with Co-chairs to incorporate results of brainstorming and ideas submitted by e-mail subsequent to the meeting into another draft of the vision matrix. Circulate and obtain feedback prior to April meeting. Revise matrix and present for discussion and decisions at the April meeting.

**MEETING MATERIALS**

Agenda

Summary of 2/21/07 Meeting

Draft PHC Visioning Matrix

Quality Workgroup Visioning Matrix

Visioning

Commercial EHR Ecosystem

Introduction to DoD AHLTA System

A Roadmap for National Action on Clinical Decision Support

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

**[Members and Designees Participating]{.underline}**

*Co-chairs*

John Glaser Harvard Partners

Douglas Henley American Academy of Family Physicians

*Members*

Mary Beth Bigley Surgeon General's Office

Carolyn Clancy Agency for Healthcare Research and Quality

Beryl Crossley, B.M., B.Ch. Quest Diagnostics

Paul Cusenza, M.B.A. 23andME

Andrea Ferreira-Gonzalez Virginia Commonwealth University

Becky Fisher, M.L.S. Patient Advocate

Felix Frueh FDA

Alan Guttmacher NIH/National Human Genome Research Institute

Kathy Hudson Genetics and Public Policy Center

Betsy Humphreys, M.L.S. NIH/National Library of Medicine

Charles Kennedy Wellpoint

Stephen Matteson Pfizer

Deven McGraw National Partnership for Women and Families

Amy McGuire Baylor College of Medicine

Mark Rothstein, J.D. University of Louisville

Steve Teutsch, M.P.H. Merck

Janet Warrington Affymetrix

Marc S. Williams Intermountain Health

*Office of the National Coordinator*

Gregory Downing

Kristin Brinner

*Senior Advisor*

Michele Lloyd-Puryear HHS/HRSA

*Others (excluding presenters)*

Mike Cowan, facilitator BearingPoint

Jean Slutsky Agency for Healthcare Research and Quality

Shelia Walkoff HHS/Office of the Secretary

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

[^1]: Scheuner MT, Yoon P, Khoury MJ. Contribution of mendelian
    disorders to common chronic disease: opportunities for recognition,
    intervention and prevention. *American Journal of Medical Genetics*.
    2004;125C:50--65. Wattendorf JD, Hadley DW. Family history: the
    three-generation pedigree. American Family Physician.
    2005;72:441--448.