American Health Information Community

Personalized Healthcare Workgroup Meeting #1

January 4, 2007

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by the U.S. Government.*

**[\>\> MATT McCOY:]{.underline}**

Okay, you can go ahead, Judy.

**[\>\> JUDY SPARROW:]{.underline}**

Thank you, and welcome everybody to the first meeting of the
Personalized Healthcare Workgroup. We\'re very excited about this
Workgroup, Dr. Downing and his team have assembled what we think is a
very inclusive and intense 22 member workgroup, so we\'re looking
forward to your hard work.

Let me just remind you, first off, that we\'re operating under the rules
of the Federal Advisory Committee Act, which means all of our work is
being conducted in public. This Workgroup meeting is being broadcast
over the Internet, we are keeping a transcript as well as a summary of
the meeting minutes, which will be put on the Web page about three days
following this meeting.

We do have a new Webpage for the Workgroup that actually just went out
today, so if you get a moment please take a look at it. And if you have
any comments or anything is wrong, the spelling of your name or
whatever, please let me know.

When you do make comments, since we\'re not seeing each other
face-to-face, please identify yourselves clearly when you speak, and
also at the end of the meeting there will be an opportunity for the
public to comment.

So with that, I think I\'m going to turn it over to Matt McCoy, who is
going to introduce those members on the telephone, and then we\'ll ask
the people here at ONC to introduce themselves. Matt?

**[\>\> MATT McCOY:]{.underline}**

Okay, Judy. On the phone for the meeting today, Grant Wood is calling in
for Marc Williams from Intermountain Health Care, Andrea
Ferriara-Gonzalez from Virginia Commonwealth University, Stephen
Matteson from Pfizer, Douglas Henley from the American Academy of Family
Physicians, Beryl Crossley from Quest Diagnostics, Felix Frueh from FDA,
John Glaser from Partners Health Care, Paul E. Olman-cleare from Partner
Center for Genetics and Genomics. Marc Williams from Intermountain
Health Care is actually also on the phone in addition to his stand-in.
Perry Marr from Partners Health Care, Jean Slutsky from AHRQ, Busho
Ready from IBM, \[Joel\] Kupersmith from the Veterans Administration,
Steve Teutsch from Merck, and I believe that\'s it. Are there designees
or Workgroup members on the phone who I did not just \--

**[\>\> CAROLYN CLANCY:]{.underline}**

Yes, this is Carolyn Clancy, I\'m on the phone.

**[\>\> BETSY HUMPHREYS:]{.underline}**

This is Betsy Humphreys, I\'m on the phone.

**[\>\> MATT McCOY:]{.underline}**

Okay, I think that\'s it for the members on the phone, Judy.

**[\>\> JUDY SPARROW:]{.underline}**

Thank you. Let me turn it to Janet Warrington to begin, you can state
your name and organization.

**[\>\> JANET WARRINGTON:]{.underline}**

Hi, I\'m Janet Warrington from Affymetrix.

**[\>\> GREG DOWNING:]{.underline}**

Greg Downing from the Department of Health and Human Services.

**[\>\> MICHELE PURYEAR:]{.underline}**

Michele Puryear from Health Resources and Services Administration.

**[\>\> LISA ROVIN:]{.underline}**

Lisa Rovin, Food and Drug Administration.

**[\>\> JOHN LOONSK:]{.underline}**

This is John Loonsk from the Office of the National Coordinator.

**[\>\> DEVEN McGRAW:]{.underline}**

Deven McGraw, National Partnership for Women and Families.

**[\>\> ALLAN GUTTMACHER:]{.underline}**

Allan Guttmacher from National Human Genome Research Institute, NIH.

**[\>\> KATHY HUDSON:]{.underline}**

Kathy Hudson, Genetics and Public Policy Center at Johns Hopkins.

**[\>\> JUDY SPARROW:]{.underline}**

Okay, that\'s it for now, Matt, so we could turn it over to the
co-chairs, Dr. Glaser and Dr. Henley.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Welcome, everybody, this is Doug Henley, thank you for being with us
again for this meeting today. And as we had done with our preliminary
meeting, John and I were going to discuss the proposed Workgroup
charges, and I\'ll now turn it over to John for a discussion of the
specific charge, and I\'ll follow that with a discussion of the broad
charge. John?

**[\>\> JOHN GLASER:]{.underline}**

Thank you, Doug. And I\'d like to join Doug in welcoming all of you to
this first official meeting and look forward to the months and the work
ahead. I believe you can see in front of you, with the Webcast in front
of you there\'s both a broad and a specific charge.

Let me \-- excuse a bit of a cold here \-- address the specific charge,
our task in the months ahead is to develop recommendations to AHIC or to
the community regarding the establishment of standards for \-- you know,
as you can see, the reporting and incorporation of genomic testing into
electronic health records. This is a phenomenon that is beginning
certainly at Partners Health Care and in other settings where this is on
it\'s way to becoming a routine and very important fabric of the care
process.

So in addition to recommendations regarding standards, we are also being
asked to just comment and provide thoughts about incentives that would
encourage the adoption of these standards both broadly across the
country and make sure that we include the federal government agencies.

So this is the specific charge that we have, and we also -- and Doug may
mention this, too -- have been asked to make comments on the privacy
aspects that surround all of this. So Doug?

**[\>\> DOUGLAS HENLEY:]{.underline}**

Thanks, John. As folks can see, regarding the broad charge of the
Workgroup, building upon John\'s comments relative to the specific
charge, you know, remember that AHIC at its core, the American Health
Information Community at its core, is about establishing standards to
assure interoperability of health information across all sites of care.
And so that as a specific charge relates to a focus on standards, and
probably a time frame looking at what we can do in the next 12 to 15
months, perhaps 18 months, the broad charge builds upon that in terms of
yes, we need the standards to assure interoperability, but how can we
incorporate this genetic laboratory test data in an interoperable way
with electronic health records. And importantly, how can we go beyond
that in terms of developing analytical tools as part EHRs that can
support clinical decision-making at the point of care both for the
benefit of the healthcare provider, and importantly, most importantly,
for the patient.

And again the broad charge is meant to focus on most likely beyond the
first year, over a two to three year time frame.

So those are the broad charges and the specific charges that have been
adopted by the American Health Information Community at its previous
meeting in December. Comments from the folks on the phone from the
Workgroup or others at this point in time?

Thank you very much, I guess we\'ll turn it back, then, to Greg or to
Judy.

**[\>\> JUDY SPARROW:]{.underline}**

Okay, why don\'t we start with the Workgroup members introduction. I
guess because I\'m looking at them I\'ll begin with the members that are
here, if you could go around and just briefly say your name, your
organization, and something about your background in personalized
healthcare. Janet, may I begin with you?

**[\>\> JANET WARRINGTON:]{.underline}**

Sure. I\'m Janet Warrington, and I\'m the vice-president of research and
development in Emerging Markets and Molecular Diagnostics at Affymetrix.
I\'ve been leading standards initiatives for the microrate community for
the last three to four years, and I\'m leading a number of large
international initiatives, and I guess that\'s probably why I\'m here.

So I\'ll just leave it at that, and if you have more questions about my
background later we can go there.

**[\>\> GREG DOWNING:]{.underline}**

My name is Greg Downing, I\'m the project director for the Secretary\'s
initiative on Personalized Healthcare. I\'ve been in the Office of the
Secretary since last March, on loan from NIH and the National Cancer
Institute where I worked on a variety of technology and research
programs associated with genomics and proteomics and other aspects of
personalized healthcare. We are the coordinating office along with our
partnership with the Office of the National Coordinator for Health IT
for this project, which is one segment of the Secretary\'s initiatives.
And I\'ll be discussing other parts of that program later in the
presentation today.

**[\>\> MICHELE PURYEAR:]{.underline}**

I\'m Michele Puryear, I\'m an advisor to the Workgroup. And our work
primarily of interest to this committee, Workgroup, has been primarily
in the area of newborn screening where we\'re actually building
databases to look at long-term followup. So we\'re very interested in
the progress and the recommendations that are coming.

**[\>\> LISA ROVIN:]{.underline}**

I\'m Lisa Rovin, I\'m the senior advisor for strategic initiatives, Food
and Drug Administration. I\'m here for two reasons, I suspect. One is
that I\'m generally responsible for coordinating FDA\'s participation in
AHIC- and ONC-related activities. In addition I\'m one of the cofounders
of the FDA\'s critical path initiatives which includes a significant
personalized medicine component.

**[\>\> DEVEN McGRAW:]{.underline}**

Deven McGraw with the National Partnership for Women and Families, a
nonprofit, nonpartisan advocacy organization here in town, that has done
work on genetic discrimination legislation in the past. But the primary
reason why I\'m here is that I\'m also a member of the Confidentiality
and Privacy and Security Workgroup. My key role is to make sure that
there\'s some continuity or some intersection between the work of those
Workgroups.

**[\>\>ALLAN GUTTMACHER:]{.underline}**

I\'m Allan Guttmacher, I wear two hats at the National Human Genome
Research Institute, one is I\'m deputy director of the Institute and the
second is I\'m director of policy and communication education. My
background is as a pediatrician and medical geneticist. I\'ve long
personally been interested in this question of integration of genomics
tools, approaches, genetics, into regular healthcare.

**[\>\> KATHY HUDSON:]{.underline}**

I\'m Kathy Hudson, I\'m at the Genetics and Public Policy center at
Johns Hopkins. I\'m a molecular biologist by training and have been
working on genetic testing quality issues, privacy and discrimination
issues, and have done a lot of work in assessing the public\'s attitudes
towards both genetic research and clinical practice.

**[\>\> ARMANDO OLIVA:]{.underline}**

My name is Armando Oliva, I\'m the deputy director for bioinformatics in
the office of critical path programs at the FDA, and I\'m a neurologist
by training, and my current role is in the identification and
development and implementation of data standards and clinical research
at the agency.

**[\>\> BECKY FISHER:]{.underline}**

I\'m Becky Fisher, I\'m a medical librarian by training, I\'m also a
breast cancer survivor\--  the RCA1 positive (inaudible) I\'m currently
(inaudible) I think I was asked to participate as a medical librarian
(inaudible), and as a patient.

**[\>\> JUDY SPARROW:]{.underline}**

And Matt (inaudible) on the telephone now.

**[\>\> MATT McCOY:]{.underline}**

Sure for members on the phone I\'ll just prompt people so we don\'t get
all the members speaking over each other. Marc Williams, first.

**[\>\> MARC WILLIAMS:]{.underline}**

Marc Williams, I\'m director of the clinical genetics institute at
Intermountain Health Care. My background is as a pediatrician and
medical geneticist, although I have also had involvement with \-- as a
medical director of a health maintenance organization and am interested
in genetics and health systems. My role at Intermountain Health Care is
to translate genomic and genetic information into links to personalized
medicine, taking advantage of the strengths of Intermountain in the
areas of quality improvement, medical informatics, and clinical decision
support, and would also just mention a specific role in looking at how
we can best leverage the use of a very prosaic but nonetheless important
genetic test that is the family history, take advantage of what we know
there to help to develop risk stratification and personalized
recommendations based on that information.

**[\>\> MATT McCOY:]{.underline}**

Andrea Ferriera-Gonzalez.

**[\>\> ANDREA FERRIERA-GONZALEZ:]{.underline}**

My name is Andrea Ferriera-Gonzalez, I am a professor of pathology and
director of the molecular diagnostics laboratory at Virginia
Commonwealth University. I have been doing molecular diagnosis and
genetic testing for the last 18 years. So it\'s been very interesting to
see explosion of the not only the technology, but the ability and the
different applications that we can use today. I'm very excited about the
future of where we actually can go.

I\'m also currently president of the Association for Molecular Pathology
and member of the Secretary\'s advisory committee on genetic health in
society. I think it\'s pertinent to this group that we are currently
going through the implementation of a new laboratory information system
solution specific for genetic testing that will be integrated with the
entire medical record in our institution. So from experience I can
relate some of these to the group.

**[\>\> MATT McCOY:]{.underline}**

Stephen Matteson.

**[\>\> STEPHEN MATTESON:]{.underline}**

Hi. My name is Stephen Matteson, I\'m the director of scientific
enabling organization at Pfizer, have experience in developing of
software applications in support of clinical reporting as well as
molecular profiling. Thank you.

**[\>\> MATT McCOY:]{.underline}**

Doug Henley.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Doug Henley, executive vice-president of the American Academy of Family
Physicians and proud to serve as a co-chair with John of this Workgroup.
My background is 20 years in private practice of family medicine, before
becoming executive vice-president of the Academy in 2000. And my
interest in this Workgroup in particular is the translation of this data
to the site of care in the clinical environment, and the interaction
between the patient and the physician. Particularly in terms of not only
standards but also clinical decision support tools delivered through the
EHR.

**[\>\> MATT McCOY:]{.underline}**

Beryl Crossley.

**[\>\> BERYL CROSSLEY:]{.underline}**

Hello, I\'m Beryl Crossley, I\'m a computational biologist and
pathologist by training and here at Quest Diagnostics I direct the
informatics and data management for our laboratory genetics operation in
research and development.

**[\>\> MATT McCOY:]{.underline}**

Felix Frueh.

**[\>\> FELIX FRUEH:]{.underline}**

Hi, this is Felix Frueh, I\'m the associate director for genomics in the
office of clinical pharmacology in the center for drugs at the FDA. And
I\'m also chairing the interdisciplinary pharmacogenomics review group,
which is an FDA-wide review group with interest in pharmacogenomics and
personalized medicine at the FDA. I\'m a biochemist by training, and the
main interests here at the FDA that I\'m representing are the
integration of the genomics into the review process overall, as well as
policy development in this particular area.

They\'re also working with HL7 and CDISC on the development of standards
for genomics and genomic data submissions to the FDA, which I think is
the link for me to this particular group here.

**[\>\> MATT McCOY:]{.underline}**

John Glaser.

**[\>\> JOHN GLASER:]{.underline}**

Yes, I\'m John Glaser, I\'m the chief information officer for Partners
Health Care, which is a large delivery system, academically-based, in
Boston, we were founded by the Brigham and Women\'s and Mass General. I
have the overall responsibility for both EHR deployment across Partners
but also for the implementation of technologies to support researchers
investigating the genomic basis of disease, and working to \-- and we
started to incorporate genetic data into our EHR database along with
genetic-based decision, clinical decision support. Although other people
in Partners, Perry and Molly do, other colleagues, do most of the work
here. So we have some front line experience and exposure to this. In
addition I have some aspects of broader understanding of the federal
agenda, working with ONC on portions of the NHIN contracts and for the
last couple of years having been chairman of the board of the E-health
initiative.

**[\>\> MATT McCOY:]{.underline}**

I believe Jean Slutsky and Carolyn Clancy are on one line together?

**[\>\> CAROLYN CLANCY:]{.underline}**

Yes, we\'re sharing a phone. This is Carolyn Clancy, I\'m the director
of AHRQ, and Jean directs our center for outcomes and evidence, and
you\'ll be hearing from her a lot. We\'ve had the pleasure of working
closely with Greg Downing over the past year on the personalized
healthcare initiative. And let me just say, Greg, what a ride it\'s
been. I think that our strongest interest here is two-fold. One is if
you'll recall the initial presentation of the panel to the American
Health Information Community making the case that this Workgroup was
incredibly important, where we really come into the picture is on the
distal or applied end, evaluating the evidence in terms of is there
clinical utility for using certain tests or treatments right now.

We do that to the U.S. preventive service task force in our close work
with our evidence-based practice centers and working with CDC\'s EGAPP.
In addition to that, we fund a lot of work that\'s complementary to that
funded by NLM and ONC focused on the use of health IT through safety and
quality, and I think we have a number of grantees actually on the line
with us today. A lot of very, very exciting work going on at Brigham and
Women\'s. And the \-- we know, as one of a number of partners very, very
interested in clinical decision support, that this issue of how can you
anticipate the future developments and build that in and be ready to
build it into clinical decision support systems of the future is
particularly salient for clinical practice. And I\'ll just finish by
saying that any group that Doug Henley is chairing I\'m proud to be a
member of.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Thank you, Carolyn.

**[\>\> MATT McCOY:]{.underline}**

Joel Kupersmith.

**[\>\> JOEL KUPERSMITH:]{.underline}**

Hi, this is Joel Kupersmith, I\'m the chief research and development
officer at the VA, I run the VA research program nationally. I\'m a
cardiologist, and we are just beginning a major genetics-genomics
program to collect genetic specimens on all consenting Veterans, of our
7 and a half million enrollees, and link it to the electronic health
record.

**[\>\> MATT McCOY:]{.underline}**

Steve Teutsch.

**[\>\> STEVE TEUTSCH:]{.underline}**

Good afternoon, this is Steve Teutsch, I\'m the executive director of
outcomes research at Merck and formerly with CDC, and my involvement in
this area is primarily through the evidence-based medicine, I\'m part of
EGAPP and have worked closely with AHRQ on a number of their activities,
and am interested primarily in the translation of this information into
practice.

**[\>\> MATT McCOY:]{.underline}**

Betsy Humphreys.

**[\>\> BETSY HUMPHREYS:]{.underline}**

I\'m Betsy Humphreys, I\'m the deputy director of the National Library
of Medicine, of course the National Library of Medicine produces a wide
range of relevant information sources for the researcher from GenBank
and most recently the newly produced dbGaP, which is the home of
genomewide association study data, and information for clinicians in
terms of gene tests and gene clinics or support for that, as NHGRI does
too, and then of course the Genetics Home Reference.

But I am on this group because NLM also coordinates clinical terminology
standards on behalf of the department and is the producer, the funder,
and the licensor, and the distributor of a range of clinical terminology
standards some of which would \-- are likely to be a (Inaudible) in
whatever format is put together for the transmission of genetic test
data.

**[\>\> MATT:]{.underline}**

Muin Khoury.

**[\>\> MUIN KHOURY:]{.underline}**

This is Muin Khoury, I\'m the director of the National Office of Public
Health Genomics at the Centers for Disease Control and Prevention. For
those of you who don\'t know, the CDC has created an office of public
health genomics to try to figure out what to do with genetic information
from a population perspective. And as you may have heard from others,
we\'ve been collaborating with a number of groups to figure out what
genetic information means from an evidence-based application. Through
the EGAPP initiative we\'re working with AHRQ and others, we also have
focused on developing family history tools for use in clinical practice
and disease prevention and a number of other activities.

**[\>\> MATT McCOY:]{.underline}**

Are there other members or designees who did not get a chance to
introduce themselves on the phone?

**[\>\> AMY McGUIRE:]{.underline}**

Amy McGuire is on the phone. I\'m Amy McGuire from the center for
medical ethics and health policy at Baylor College of Medicine, and my
research focuses on issues of consent and confidentiality in genomic
research.

**[\>\> MATT McCOY:]{.underline}**

Thank you, sorry about that. Any others? Okay, Judy, I think that does
it for all our introductions.

**[\>\> JUDY SPARROW:]{.underline}**

Okay, let me just say very briefly, because you do have a very full
agenda, talk a little bit about the Workgroup\'s role in the AHIC. And
obviously the workgroups play a very important role in the AHIC process
as a body of experts that really advise the AHIC through
recommendations. Which is your work, to work through some of the issues
and make the recommendations to the AHIC, which will then discuss them
and at some point either pass them on to the Department and Secretary
for actions or not.

How do we do this? It\'s basically a consensus-building process where we
identify areas of agreement or, in some cases, disagreement, which in
that event makes the discussion go a little bit deeper into the subject
matter. So it is a consensus-building process, working towards these
recommendations to the AHIC.

That\'s a very short summary of it, but I do think you\'ve got a lot to
accomplish here, I think I\'ll turn it over now to Dr. Downing, who will
give an overview of the personalized healthcare.

**[\>\> GREG DOWNING:]{.underline}**

Thanks, Judy. On behalf of our little team, here, I want to thank again
the chairs, John and Doug, for their hard work over the last couple of
months in putting this together, and all the members of the working
group who contributed quite a bit of information to you already. One of
our major challenges has been organizing the information in ways that
are useful to you in bringing this group together today for the first
time, which happens to coincide with opening of Congress I guess today.
So Happy New Year to everyone and thanks for joining.

What I\'d like to do is begin is by just providing a broader scope of
the secretary\'s initiative in personalized healthcare, its origins and
direction and how one piece of that initiative became imbedded into the
AHIC activities.

And I think you should have the slide set here, some of you have already
seen portions of this in prior presentations, but this is an initiative
that many of you know that the Secretary, Leavitt has been working on,
and his activities as one of the co-chairs of the AHIC has endorsed and
brought forward, and one of the components that we\'ve been working on
is developing a coordinated plan across the agencies that bring together
the best of the science and the clinical delivery support systems that
are necessary to make this a reality.

So I wanted to give you a bit of a background on how he has been
thinking and communicating on a number of these initiatives, but on the
first slide it will identify \-- his priorities cut across many of the
activities in the agencies that are prominent today and reflect some of
the activities over the last year or so that he\'s been working on,
particularly the health IT aspects that we\'re closely aligned with here
on this particular project. Medicare Part D implementation, pandemic flu
preparedness, and the New Orleans healthcare system redesign are many
aspects of which \-- some of them are also connected to some of the work
that are ongoing here with regard to electronic health records.

So just speaking to the Secretary\'s vision, this has been shaped over
time and really reflects a learning process about what many of us in his
work with many of the heads of the agencies in the Department, have been
really beginning to shape a vision of where the directions of the two
underpinning components of personalized healthcare, that being health IT
and electronic health records, and the genomic technologies are really
leading us, and where the practice of medicine and healthcare delivery
will likely be impacted by this.

So from the initial discussions we\'ve had on this is that his view of
the personalized healthcare is really patient-centric, and
information-based. And those are really the key messages that he\'s been
emphasizing on how we utilize the information in the new medicine and
new science capabilities to help underpin our healthcare system, and
maximize the capability of using that information in the proper ways.

And as you will likely hear him speaking more about this in the upcoming
months, the security, privacy and confidentiality issues were something
that he was very concerned about, and also were emphasized by the AHIC.
And so one aspect of the group\'s efforts here has been to flesh out
some of the major elements of that, and what types of protections are
already in place, and what other specific concerns related to genetic
test information in electronic health records may provide.

The longer term, really, objective is he\'s looking at this as a
generational perspective, as he often has done in his reflections upon
major achievements and advances in medicine over the last several
hundred years, is that these are often generational in that there are
breakthroughs in technologies and capabilities.

So while the work that his administration will be doing over the next
couple of years will not lead us to a specific place, it will set the
course for certain directions in which policies and practices are in
place throughout the healthcare delivery system, that will maximize the
capabilities for utilizing these new capabilities.

And the goal here is then to provide consumers and healthcare providers
the means to make information and delivery of healthcare more informed,
individualized, and effective in the choices that we present to
patients, and the care of them.

This two-year objective is really to establish concepts and priorities
that support the healthcare system transformation, to help achieve these
long term objectives, and the work of this group in terms of adoption of
standards or the practices of inclusion of genetic test information in
electronic health records is one of those key components.

And the Secretary recognizes that there are different aspects in regions
of the country, at different institutions, different disease areas, the
pace of which the advances in these areas are moving at different rates.
So the goal here is to develop some common vision and policies around
how these new capabilities will be employed.

We saw in justifying this as a major area for his work is a number of
key enablers that were coming together. And I can\'t speak for the
secretary, but I believe in the reflections that he\'s made that his
experiences as governor in the state of Utah, where the implementation
of health IT came about at a time when he was governor and helped
facilitate both from education and in healthcare, and at the same time
his role as a community leader in the development of the Utah cohort and
genetic studies that were done as part of the human genome project I
think set the stage for his interest in this particular area, as well as
the input from most of the agency heads that he\'s been working with
closely over the last two years or so.

The other aspect of it is that health IT is really the transforming
capability that will enable patient-centric care to be doable, and it is
the means at which not only commerce but information exchange in the
healthcare system will be transformative, that at the bedside or the
clinic, the patient and the healthcare provider will have a discussion
and be provided information that is up-to-date and current and is
reliable in making healthcare decisions.

This integration of health IT and genomic information will be
transformative in its practice, and I think we\'re already seeing the
leading edges of that in some ways. And it\'s a critical opportunity for
us to anticipate and plan for the future to achieve that across the
Department, anyway, in our partnership with the private healthcare
enterprise that we achieve these.

We have constructed a pyramid of what we see as the critical steps, and
this is referred to as the personalized healthcare pyramid that\'s
really building on the extension and rapid growth in our scientific
knowledge and understanding of disease. And often we use the term
genomics in a broader context to meaning not only DNA sequence but other
features including proteins, as really being able to \-- whether it\'s
through biomarker or biology or other mechanistic aspects of
understanding and being able to determine more mechanistically the basis
of which health and disease have their origins.

Complementing that are the advances in health IT through both the
infrastructure developed as part of the internet, as well as the
information exchanges that NLM and many other parts of the government
have been exploring, but also in the private sector, that the
integration of electronic health records capability is the foundation
for the ability to aggregate information and utilize it in an organized
fashion is really one of the underpinning structures for this.

In looking at the pyramid, you\'ll see the breaks in here, and it\'s
really in building bridges across these that the efforts that the
Secretary has been leading is most fundamental. The next steps in that
are to develop and utilize the information from the science and the
healthcare delivery system to review and develop \-- and this is one of
the points that Carolyn was talking about, is to understand what works
and what doesn\'t in certain patient populations and under certain
conditions. And utilizing this information then to help facilitate the
integration of best practices into the clinical scene is one of our
goals.

And that as Doug and the other members have contributed here, is that
the information, if not presented in ways that is clinically meaningful
and useful to the consumer, won\'t achieve the pinnacle of the pyramid,
and that is a individual patient-centric approach to healthcare
delivery.

Just a little bit on the history of the planning process that led up to
this in the next slide. Approximately nine months ago there was a number
of meetings across the Agency with the Secretary leading a number of
discussions of workgroups, and a number of issues were fleshed out at
that point in terms of ideas and opportunities that were basically
inventories of what were going on within the agencies themselves, and
looking for opportunities to leverage some aspects of those. And we\'ve
had a number of briefings across the different agencies with leading
scientists and healthcare practitioners and others to gain better
insights into what\'s needed and where the Secretary could utilize his
opportunities best.

Throughout the course of the summer we have had a number of agency-wide
retreats and other discussions and planning processes to better
coordinate information exchange on who is doing what, in what areas of
science and medicine and healthcare delivery that facilitate and enhance
the opportunities to utilize the products of those.

At the September 12th AHIC meeting there was an initial presentation on
this activity, and there was discussion at AHIC, and following up on
that was a panel put together represented by a number of the members of
this working group that presented the concepts of what was the need, and
where were the opportunities for the AHIC working group, for an AHIC
working group, to help contribute to the Secretary\'s initiative. And it
was at that point the further concepts were developed and presented then
in terms of the scope that were presented earlier by the chairs at the
December meeting.

In November, on November 1st, we released an RFI from the Secretary\'s
office and have \-- soliciting opinions and ideas about concepts of how
the healthcare delivery system is engaging in personalized healthcare
planning. And we also engaged in many community outreach activities with
a number of patient advocate groups, and have been collecting
information primarily with the goal of developing a report for the
Secretary relatively soon after the completion of the RFI on February
5th. If any of you would like further information on that they can
contact me and we\'ll be happy to send information about that.

What are some of the emerging opportunities? That many healthcare
systems and public resources are considering, the risks and benefits for
the incorporation of genetic test information into electronic health
records. We\'ve heard from many of them, about the attendant issues of
what patient concerns are, what physicians\' and practitioners\'
concerns are, and then overall how is that information exchanged in ways
that are meaningful and contribute to better healthcare.

Practical applications of medical genomic tests are already emerging for
risk assessment, confirmatory diagnostic testing and the selection of
appropriate therapy, such as pharmacogenomics platforms that many of you
have already been either employing or utilizing or hearing a lot about.

There\'s a lot of work to be done, and there\'s no question that this is
a very early stage. But as the standards processes for many of the
technology platforms \-- and you\'ll hear from Janet Warrington a little
bit about that \-- that it seems timely, and a unique opportunity at
which you can get a head start, if you will, on integrating some of
these and developing harmony among many of these standards processes
that will facilitate the use of this information by the healthcare
delivery system.

We\'ve heard from many, many, many healthcare providers that they feared
the day in which genomic test information would become a mainstay
diagnostic test in their practice, it\'s a very anxiety-provoking in
terms of not having sufficient information or knowledge base upon which
how to use that information. And that\'s one of the goals of this group
is to consider how the availability of this information may help in
easing the utility of it as we go along. And many of you may have some
points to raise on this in the discussion.

We\'ve provided to you today a slide that shows some of the capabilities
and ways in which we\'re already using genetic tests in medical
management, represented here today by a number of you are people who
have a lot of experience with these applications. Newborn genetic
testing and metabolic screening has been conducted for many years, many
of these are genetically-based tests and are conducted as state
mandates, and they\'re done on virtually half a million newborn infants
each year, and that information, in terms of \-- four million, sorry, I
should know these numbers better than that. The collection of this
information, utilizing it in more efficient terms, is one way in which
electronic health records could help facilitate.

One of the members here spoke earlier today about risk factor
determination in family healthcare. The implications of family health
histories are something we\'re going to talk about in this discussion
for the Community. And then also in treatment selection, much discussion
in the medical literature and the lay literature today about the
utilization of genetic testing to help in the selection of treatment
outcomes.

We felt that in building the interface for health IT and genomics and
healthcare management that there are a number of advantages that
genomics already provides for us. And one of those is that the structure
of the genome provided us with a fairly simple lexicon of terminologies
in which we can describe unique sequences in our DNA. And that digital
quality I think matches fairly well with our digital enterprise in which
we exchange information. Through the help of NLM and much of the work
that\'s already been ongoing across the globe, relative to many other
aspects of biology and medicine that we\'ve developed a harmonized
nomenclature system that are widely used for genes and diseases, and
this continues to evolve in a fairly community-based practice of
organizing standards and nomenclature for diseases. And many of you here
represent those kinds of communities that can help facilitate this now
to the next level in terms of health practice.

Communities already exist, and some of the members here today will be
talking a little bit about the existing standards for technology
platforms, for whether it\'s for registration purposes and market entry,
or into clinical diagnostic frameworks for laboratory applications. And
so that\'s another step in the right direction that there\'s already
efforts ongoing that will facilitate the incorporation of these
laboratory test data into genetic records, health records. So we\'ve
established a precedent here, in that there are many activities ongoing.

The Secretary\'s goals overall, I won\'t go through these in detail, but
are fairly simple in terms of the ability to link clinical and genomic
information. And we\'ve been looking at a number of pathways and
programs across the agencies that will hopefully come together to help
establish some either test beds for developing these, in working with
the National Health Information Network, and some of the work that\'s
already ongoing with Dr. Clancy\'s agency, and CDC, to help integrate
databases and develop networks of resource information that can be
linked across a number of enterprises to help facilitate, ultimately, in
a longer term fashion, clinical decision support activities.

One of the components we\'ve been talking about also has been the use of
genetic test information, and this is goal two, is really looking at how
consumers can be assured that the information that they\'re being
provided, utilizing genetic tests, has some form of oversight. The
patient confidence we understand is going to be crucial to the
utilization of these technologies in the future, that this provides
healthcare providers with the assurances that the tests have been done
appropriately, and many of these are complex technologies and tests that
having the appropriate interpretation of the results may lead to very
important decisions that are made between the healthcare provider and
the patient.

Also have been several issues that have come up recently with regard to
direct to consumer marketing with various testing platforms, and
although this group will not be dealing specifically with some of these,
they may be of interest to you, in that there are a number of working
groups within the Department that are addressing some of these issues of
analytic and clinical validity, and we\'ll continue to have discussions
about that.

I won\'t say anything further about that at this point, but breaking
this down, it\'s really about, for the initiatives themselves, it\'s
really about the development of the information utilizing health IT and
genomics combined, as the two pioneering technologies of this
millennium. And then the appropriate use of genetic test information.
The oversight, the capabilities, that consumers are provided protections
that the information will be used for their benefit and not against
them.

So those are really the underpinning principles. I just wanted to go on
to the next slide and just identify several of the other working group
activities that \-- several of the other activities within the
Department that are contributing to this working group\'s activities.
The Secretary\'s advisory committee on genome health in society, several
members of this working group are members of that.

These are just listing a number of the activities that that group has
been developing reports, and having public comments on. This relates to
pharmacogenomics, genetic nondiscrimination legislative issues, genetic
test oversight, and intellectual property issues. And many of these are
ongoing within the Department, and the Secretary is being briefed on
them on a frequent basis.

Just with regard to a number of the major activities going on within the
agencies themselves, genome-wide association studies have become quite
prolific in terms of research activities at the NIH. The genes in
environment initiative started last year that helps develop information
about the association of environmental factors and genetic risk.

The NIH and FDA have been working jointly on a number of activities to
help facilitate the integration of genomic testing capabilities to
facilitate personalized healthcare through the biomarkers consortium.
Last month had a workshop on looking at the use of genomic technologies
for safety aspects, in preventing adverse events. And so there\'s many,
many activities going on that we\'re tracking and coordinating in some
fashion, as well.

As a number of people have mentioned here, their membership is
represented on an additional advisory body to the Secretary on
evaluation of genomic applications for practice and prevention, and the
committee on heritable and genetic diseases in newborns and children.

The last slide is basically some of our communication strategies, and we
welcome input from you on how we best articulate and communicate with
the public through the Secretary and the conduits that this community
provides. Basically we\'ve had a number of listening sessions and
meetings, and the Secretary has done a number of these himself, of
meeting with key stakeholders and consumers, the industry
representatives, planners and researchers and the like, in identifying
what do they mean by personalized medicine, personalized healthcare, and
what is the role of the government in facilitating this evolution of
healthcare.

We have a Website, one through AHIC here, and one also it\'s a working
Internet site within the Department that will also be developing a
communication site in the next month for the public on the Secretary\'s
home page.

Some of our public messaging and communication strategies, that we again
welcome your input on, is portraying a common vision. This notion of
personalized healthcare can be fairly confusing, and we think we\'ve
simplified it to the extent that most people can understand that
gathering information about their genetic aspects and risks for disease,
and coupling it with health IT, can help facilitate better
decision-making and safety of our healthcare practices.

The strategy for doing this is working across a number of our agencies
and stakeholder organizations to help develop a common means to explain
and convey this somewhat complex idea to the general public, and equally
to the healthcare delivery system, and to the communities about them
that are going to be key stakeholders in making sure that this presents
opportunities, and is welcomed by patients and healthcare providers
rather than feared.

And then I think the major part here, the one element we\'ll be dealing
with on a technical basis as well as policy, is on information safety
and usefulness of gathering of information, and how it\'s shared, and
providing access to public resources are one of the major goals of what
the Secretary wants to assure that the information is being used in a
proper fashion.

So that concludes our overview of the personalized healthcare initiative
from the Secretary, and I\'ll be happy to take any questions at this
point, or move right on to the next discussion from some of the ONC
representatives here today. John, Doug, I\'ll turn it back to you.

**[\>\>:]{.underline}**

Any questions for Greg? Fair enough. John Loonsk, do you want to take it
from here?

**[\>\> JOHN LOONSK:]{.underline}**

Thank you, Doug. And on behalf of the Office of the National
Coordinator, we want to express our great excitement and enthusiasm
about working with both this working group, and with the overall
initiative. We think that this is a critical initiative in the context
of advancing health IT, but also that health IT can be critical in
helping to advance the goals of personalized health, as well.

What I\'d like to do today is just talk very briefly about some of the
activities that the Office of the National Coordinator is pursuing in
the context of the national health IT agenda. And by no means will I
touch on them all, Jodi Daniels is going to speak about some of the
others, and there are still others that we won\'t be able to talk about
today.

But I wanted to convey especially the concept of the cycle that we\'re
going through, and to talk a little bit about not just standards, but
getting to standards implementation and adoption, which is so critical
for all the things that we\'re trying to do, in the broader health IT
agenda.

So not only do we have to think about adoption of health IT in general,
but we have to think about standards adoption. And the importance of
that is that we need to consider a number of different activities that
feed into that.

And so I\'m going to talk off the cycle slide, which is in front of you.
And just to go through, again, at a very high level, and there will be
opportunities for more discussion on these points in future meetings, as
you all see fit, but to go through some of the components that feed into
this cycle of getting to standards, and getting to actual implementation
and adoption of those standards in the context of the national agenda.

So where we start is at the American Health Information Community. And
there are several on this call and in this room who participate in that
setting, where priorities for the different activities are expressed.
And the priorities in this case have been articulated as breakthroughs,
they come in the context of recommendations.

But they\'re really an articulation of where the areas are where
there\'s an opportunity for an alignment of the business need, of where
the technical infrastructure can make advancements, and where, in
general, we can begin to implement a health IT system, or to coordinate
health IT systems, to advance the broader health IT agenda. So they\'re
strategic opportunities, and opportunities for attention by the entire
apparatus that I\'m talking about. And all the different components here
are then focused to some degree or another on those priority areas.

And the way they\'re done is the American Health Information Community
has identified breakthroughs, that has usually led to a working group,
the working group has led to discussion of priorities in that area, a
use case has been developed to specifically articulate some of the
needs. And we have developed, in the last cycle that was largely
operative last year, three use cases. These are \-- this is jargon, but
it\'s really what it is is a very specific detailing of some of the
information flows and some of the architecture needs and some of the
issues and problems that need to be addressed in the context of
advancing that activity.

And the goal in the use case is not to solve the problems, it\'s to
state them with enough specificity that the various other aspects of
this national apparatus then can focus on them and work on them. We have
literally thousands of people who are working in one way or another on
related activities to advancing national health IT. And to coordinate,
communicate, and advance this broad agenda, having that specific
articulation is very helpful.

The three that were done last year were in the area of consumer
empowerment or for the consumer, a use case about registration
information and medication history; in the area of the provider around
electronic lab results reporting; and then in this \-- in the last
month, a new use case that was asked for by the EHR working group on
emergency responder EHR has also been published that will start to feed
into the next round of the cycle, if you will.

And in the population area, a use case was developed around connecting
public health to clinical care data. And not all public health
activities, but specifically talk about data that are available in the
electronic clinical care environments that are of use to public health
in a biosurveillance context, and trying to make those available.

We anticipate that there will be three more use cases that are
prioritized at the next American Health Information Community meeting,
which is later this month. And those and the emergency responder EHR
will then feed these next step processes, which include, among other
things, the Nationwide Health Information Network initiative.

The NHIN is about health information network services, and facilitating
the movement of data, frequently between the different organizations, to
advance the broad health IT agenda of having information follow the
consumer, and have it be available for clinical decision-making where
it\'s necessary \-- where it\'s needed.

The specific activities of the NHIN have been focused on these use cases
this year, they were put to the NHIN, and the context for this past
year\'s activities was for the four different consortia to develop
prototype architectures for how the different organizations involved in
healthcare could connect up to facilitate this mission.

So it was not to implement software systems, it was to develop how these
architectures could work, and to develop software and to advance it, to
demonstrate that their architecture was viable. And we have now, for \--
a number of different products from that activity, including functional
requirements that have been worked with the National Committee on Vital
and Health Statistics, security models, we\'re working with John Glaser
and others on business models for how this can be sustainable. And at
the January NHIN forum, and also at the January American Health
Information Community, we\'re going to have a presentation of the actual
software implementations of these prototype architectures. I would
recommend that to you, I think I could talk for quite a long time and
not convey what that looks like as well as these software systems will
do in terms of articulating how that can look.

2006 prototype architectures. What we announced recently was that in
2007 we\'re moving from prototype architectures to directly engaging
with state and regional health information exchanges in the context of
trial implementations. And a new request for proposals is going to go
out oriented to that networking activity, but I can \-- suffice it \-- I
can say at least two things about it. One is that standards, and those
standards that are blessed by the Secretary and have gone through this
process, will be a part of that, as a methodology of moving toward
implementation. And that the trial implementations will take the other
issues, like security products and policy products, and work to
implement them to get the state and regional health information
exchanges to begin to come together to implement the network of networks
that will be this Nationwide Health Information Network.

So there\'s more to talk about in that regard, but the NHIN will deal
with the products, the standards products and the architecture products
that are talked about in these other settings, and work toward their
implementation.

Another part of this process is the Health Information Technology
Standards Panel. And there are several classic issues in standards that
the HITSP, as it\'s called, was designed to work to address. What HITSP
has been doing is taking these use cases, that come from the
breakthroughs from the American Health Information Community, and then
working to harmonize the standards that are associated with them.

So what standards are needed to fulfill those use cases, that has been
HITSP\'s role. And it\'s not about developing standards, it\'s about
harmonizing them. And you know, whatever \-- there are one or two
standards jokes, and this is the first one, which is that the great
thing about standards is that there are so many to choose from.

So one of the classic problems with standards is attempting to be
addressed by harmonizing them, by saying in the context of that use
case, we\'re going to use these standards for this purpose, in terms of
this national agenda. And coming to closure on what will be used in that
context.

Another classic standards problem has been identifying standards gaps,
and it\'s clearly part of what this working group is going to be
thinking about, in terms of where there may be needs for standards. And
one of the roles for HITSP has been to try to identify where there are
gaps, where there are standards that are needed, and work with standards
development organizations to help fill them. It\'s not necessarily
HITSP\'s role to fill standards or to manage them in an ongoing way, but
it is their role to try to identify gaps where they see them, and then
try to work with standards development organizations to help fill those
gaps. And others, potentially.

A third classic problem with standards is their specificity has not
always been adequate to accomplish easy interoperability, or easy
exchange. And I\'m now in this room holding up an example of one of the
HITSP products, which is an interoperability specification. It is, I\'ll
thump it, it \-- I hope that wasn\'t too loud, but the heft of it is
phonebook-like heft, with very specific detail about not just what the
standards are, which is really for the three that were talked about this
year, there were only 30 that were identified, but exactly how to use
them to accomplish a kind of plug-and-play interoperability.

So this kind of specificity is part of the goal of the HITSP process, as
well. To develop the unambiguous specificity that says these are how the
standards are to be deployed in the context of achieving this
interoperability.

So the products of these are going \-- of the HITSP process are going to
be recognized by the Secretary, and recently the first three from last
year were advanced to the American Health Information Community, who
then recommended them to the Secretary, the Secretary has accepted them,
and they will be recognized in December of 2007. And with that conveys a
slew of activities that also relate to other things we can talk about in
the future, including the executive order, and the expectation of
implementation in federal health IT systems and federal health IT
contracts, federal health contracts, also there\'s an expectation that
the certification process will implement these interoperability
specifications in times as certification criteria.

So moving to the next slide, and the next piece of this agenda is to
talk about certification, which is essentially about ensuring that those
who invest in health IT solutions know that they are going to do what
they expect them to do, they have the functionality that they\'re
expected to have, that they\'re secure, and that they have the kind of
interoperability necessary for them to work in the broader health IT
environment.

So the three tenets of certification are functionality, security, and
interoperability.

The time sequence for certification has been to \-- in the previous
year, to look at certification criteria for ambulatory care EHRs, and
then to test to them. So the Certification Commission has certified now
some 35 ambulatory care electronic health records as meeting these
criteria, and they have a very rigorous testing process to ensure that
it\'s a fair evaluation of whether they\'re in fact doing it.

This year certification is looking at criteria for inpatient electronic
health records. And also, has added to their focus specialty ambulatory
care EHRs. And next year, certification will focus on not just updating
ambulatory care and inpatient, but also working on network certification
criteria for the kinds of activities that I talked about in the context
of the Nationwide Health Information Network.

So going back to that cycle slide, there are clearly needs for a variety
of different activities, some of which occur in parallel, but some of
which occur in sequence. Starting with the identification of priorities,
working through architecture, standards, the \-- some of the policy
issues that Jodi will touch on, and others around barrier removal, and
regulatory considerations. Thinking about business opportunities for
deployment both in terms of determining where in fact to emphasize and
pay attention in terms of the national agenda to move this forward, but
also in terms of thinking about showing what works, and what doesn\'t
work, and evaluating what has been successful and what will be
successful moving forward.

Identifying business models for sustaining, self-sustainment of these
types of activities, and then to certification, to indeed show that the
different aspects of this cycle have been established in the software,
and to ensure that people who invest in software systems will be
investing in systems that can fulfill those expectations, and bring us
to this broader health IT agenda.

It\'s a cycle that we anticipate doing over and over again. And part of
what I\'m focusing on here is the many components to moving this
forward, we can talk about them in greater detail, but the point is that
there are many aspects to getting standards advanced and implemented,
and there is also many opportunities here to try to move that forward.

And then to give you just a broad picture of the fact that these
activities are going on, and the fact that we\'re in mid-cycle. With
some of them we\'re starting the next cycle, for some of them, and then
there will be more that will come in the weeks and months ahead. And we
look forward to working with you all, to both give you the advantage of
the tools that have been put in place, to accomplish your goals here,
and to have your activities fit in and help advance the broader health
IT agenda, as well.

**[\>\>:]{.underline}**

Terrific, John. Any questions for John?

**[\>\>:]{.underline}**

We have a couple here, Doug \-- or John.

**[\>\> MICHELE PURYEAR:]{.underline}**

Your use cases that you spoke about, are those primarily adult medicine,
or were any of them pediatric?

**[\>\> JOHN LOONSK:]{.underline}**

They have not differentiated to pediatric versus adult medicine, to this
point. I would say largely. That\'s the one \-- and use case is a term
of art in systems development, where a use case usually refers to a very
specific articulation so that a software designer can say, you know,
"Oh, I know exactly what they want in that system, and I\'m going to
build that."

We\'re working at several meta levels above that, and so \-- and we\'ll
be happy to share details of the work that has been done. I think that
there is a good amount in the use cases that have been developed that
are relevant to what you\'re doing. And there are also \-- there\'s a
good amount in the NHIN activity that is relevant to what you are doing,
and I\'m excited about the possibilities for conveying some of that to
you. I hope you\'ll get a chance to see that. But they haven\'t
really \-- to answer the question very specifically, they haven\'t
differentiated pediatric from adult largely because they\'re working at
a little higher level right now.

**[\>\> MICHELE PURYEAR:]{.underline}**

A higher level. So that kind of specificity isn\'t needed?

**[\>\> JOHN LOONSK:]{.underline}**

That types of specificity sometimes may occur, would occur at the
standards harmonization standard, so that if there is a standard that is
relevant in the pediatric domain to fulfill that use case, but not in
the adult domain, or vice versa, that that would be articulated. So I
believe some of that may have occurred to date. But the use case itself,
because they\'re working on a high level, have not yet \-- you know,
they haven\'t worked in areas where the difference between pediatric or
child health IT and adult health IT is that different.

**[\>\> MICHELE PURYEAR:]{.underline}**

And then another question I have, say a community comes together and
has \-- large community has developed standards for specific laboratory
tests, do they \-- how do they get those standards adopted?

**[\>\> JOHN LOONSK:]{.underline}**

There\'s a real tension here between wanting to encourage the
development of standards in areas where they\'re necessary, but also
trying to use HITSP to make sure that there\'s a valid process for
anointing, if you will, the standards that are going to be used. And the
fact that HITSP has some 260 different organizations that are
participating in it, it has a certain amount of throughput that it can
accommodate, this whole cycle really has a certain amount of throughput
it can accommodate. So we\'re starting out, we\'ve done \-- almost
completed the first cycle of this. There are going to be efforts to
expand the capacity, but we\'re still working with limited bandwidth, if
you will. So \--

**[\>\> ANDREW WIESENTHAL:]{.underline}**

John, this is Andy Wiesenthal. May I ask a question and make a comment?

**[\>\> JOHN LOONSK:]{.underline}**

Andy, if I could make one more statement about the last question.

**[\>\> ANDREW WIESENTHAL:]{.underline}**

Sure.

**[\>\> JOHN:]{.underline}**

There are specific opportunities for advancements, participating in
HITSP is an example, one great way.

But not all the standards activities are just about harmonization, and
working with standards development organizations to make sure the
standards are available to be used is clearly an important component
that has to occur before some of the rest of this can occur, as well.
Sorry, Andy.

**[\>\> ANDREW WIESENTHAL:]{.underline}**

No, the comment was really about this discussion, and I don\'t \-- from
reading some of the materials and also from listening to this, I
don\'t \-- I\'m not sure that this group \-- and we should open this up
for discussion, if I\'m wrong \-- is in the business of characterizing
the quality standards for this kind of testing in the laboratory domain.
What this is about is creating standards for the characterization of the
data, so that it can be transmitted in a reproducible fashion between
systems. And stored and expressed in a way that clinicians and others
can use it and understand it.

It\'s not about how do you \-- how do you adequately, you know, test
microarrays.

**[\>\> MICHELE PURYEAR:]{.underline}**

That\'s not what John was saying, then.

**[\>\> ANDREW WIESENTHAL:]{.underline}**

But I find some of this \-- there\'s a little bit of confusion at least
in my own mind in reading some of the material. I don\'t think we \-- we
could edge over into that, and I\'m not interested because I don\'t
think any of us have the \-- at least I don\'t have the competency.
That\'s the comment. The question \--

**[\>\> JOHN LOONSK:]{.underline}**

That's a good point. I\'m not sure there\'s a joke about it, but one of
the things that we have learned is that you should always articulate
exactly what you mean by standards when you\'re talking about them,
because people do interpret them in about five or six different ways.

**[\>\> ANDREW WIESENTHAL:]{.underline}**

Because in this arena at least in terms of characterization of the
laboratory tests for the purpose of communicating results between
systems and naming them and characterizing them, there is a standard
called LOINC. And so to pursue this through LOINC I think is probably
the most \-- the path of least resistance because LOINC is very widely
accepted. And this just would be an addition to LOINC, if they don\'t
already have \-- you know, LOINC codes for, for example, newborn
screening. I\'m quite sure they must.

**[\>\> MICHELE PURYEAR:]{.underline}**

No, they don\'t. We\'re creating them, though.

**[\>\> JOHN GLASER:]{.underline}**

Andy, this is John Glaser. You\'re correct, our job is not to develop
standards for sort of assuring that the test is done properly and QCed
and all that other stuff. So you\'re right, it\'s for the transmission
and the storage here. And I think your comments on LOINC are appropriate
and will be part of the series of meetings, the conversations we\'ll
have in the months ahead, as we\'re seeing who is doing what in this
space, and to what degree existing efforts could be leveraged to
encompass what we need to take on here.

**[\>\> ANDREW WIESENTHAL:]{.underline}**

Anyway, the question I have is a simple one. Some of us, I\'m thinking
of myself, are on these other groups. And so how does this group wants
to exploit those relationships? I\'m a commissioner on the CCHIT, there
may be others on the Workgroup who have roles in these other entities,
and we should openly discuss how we want to use those crosslinks.

**[\>\> GREGORY DOWNING:]{.underline}**

This is Greg, I think that\'s \--

**[\>\> JOHN GLASER:]{.underline}**

I think that\'s fair. Without sort of jumping too far ahead on the
agenda, I think one of the things we ought to close this meeting on is,
looking forward to our February meeting, is to lay out a roadmap of the
tasks that we have to take on here to fulfill both the specific and
broad objectives that have been set for us. We may use the better part
of our February meeting to say we need tackle this task and that task,
et cetera. And I think once we have a set of tasks that makes sense to
everybody, then we can see how best to leverage the variety of
professional relationships that are on the phone here to carry those
tasks out.

So I suspect we\'ll probably need a context of a series, we need to do
these six things or ten things or whatever, and that will give us a
better position, for example, to know how to take advantage of your
CCHIT relationship.

**[\>\> ANDREW WIESENTHAL:]{.underline}**

Great.

**[\>\> GREGORY DOWNING:]{.underline}**

This is Greg. I was just going to add, John, that there was some method
to our madness in reaching out to various communities about this, that
to help convey and bring into the group, most of the members of this
working group have other relationships with other advisory committees or
other standards groups, and that was by intent.

**[\>\> JOHN GLASER:]{.underline}**

Actually, Greg, I thought this was a door prize for attending the AMA
event. All right, any other questions for John?

**[\>\> KATHY HUDSON:]{.underline}**

I have a question, this is Kathy Hudson. Thank you very much for a
really helpful presentation of how these things are interdependent, but
I sort of feel like I needed organizational charts, though, for the
Certification Commission and for HITSP and for the National Health
Information Network. Are those all made up of outside advisors to this
office, or sort of \-- what\'s the organizational structure, here?

**[\>\> JOHN LOONSK:]{.underline}**

I could just give a quick answer, then \-- more on the materials. But
those are all \-- the HITSP has over 260 different health sector
organizations in it, so it\'s a very public process, consensus-based,
has bylaws, you know, for its processes. CCHIT is a public-private
process, it is \-- and the NHIN has had a series of public activities
related to input into that process as well.

They\'re all a little different, we can share some of those nuances if
time allows

**[\>\> KATHY HUDSON:]{.underline}**

But all reporting up to the Secretary? Or not?

**[\>\> JOHN LOONSK:]{.underline}**

Well, another way of articulating it is that many of them report to
the \-- relate to the AHIC, which then in turn reports \-- you know,
relates to the Secretary. So \--

**[\>\>:]{.underline}**

So AHIC (inaudible) all these various other entities?

**[\>\> JOHN LOONSK:]{.underline}**

I think it\'s fair to look at it that way, yes, they\'re sponsored by
contracts from the Office of the National Coordinator, but they\'re all
working on the health IT agenda, and the AHIC is setting the priorities
for that.

**[\>\> KATHY HUDSON:]{.underline}**

Thank you.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Any other questions for John? Perhaps we can go on, then, to Janet
Warrington and your presentation, Janet.

**[\>\> JANET WARRINGTON:]{.underline}**

Okay. Thank you. So first of all I want to say to address Andy\'s
concern about some of the other slides that he saw in here. I tried to
be inclusive, I didn\'t want to jump to any conclusions about how much
information you all wanted to see.

So in the spirit of this initial effort to collect information about
initiatives that are underway that are relevant to genomic technology
and the development of standard controls and best practices, I put
everything in here that I\'m currently involved in or am aware of.

But I also really fully appreciate that many of these things are
upstream of the immediate goals of this working group. But I wanted to
be inclusive, and not make that decision myself.

Secondly, the other point that I wanted to make about that is that the
current focus of most of these activities is on DNA and RNA, although
many of these groups acknowledge that there will be some extension into
proteomics. And the current activities have been focused on DNA and RNA
so that they have a limited scope, that there\'s a beginning, a middle,
and an end, and that there are achievable goals and products that will
come out of these in a reasonable timeframe. And that proteomics are out
there, but really viewed as something that would be a next step.

So I\'ll just set it up that way. I\'ve got the sort of laundry list on
the second slide of these best practice initiatives, and standards
controls initiatives. And about the term standards, I\'ve learned from
working with folks at the National Institute of Standards and Technology
that generally people who work in the quote-unquote standards community
don\'t actually ever really use the word \"standards\" as a noun, they
use it as an adjective. And it\'s usually followed by something like the
word \"controls.\"

So I tried to adhere to this, even though I consider myself part of a
standards community. When we talk about this in these meetings, in these
different groups where we\'ve got specific work products in mind, we
really try to be very explicit about what the work product is from the
perspective of standardization and harmonization.

So that\'s the set up. If you move on to slide three. I\'m going to whip
through these pretty quickly, so you have questions about these don\'t
hesitate to ask me later, but I\'m going to try to keep on time for the
agenda here. So the first one is the external RNA controls consortium,
and we now have 178 members from 95 organizations, and representing 14
countries. And the focus of this volunteer organization is to develop
well-characterized standard controls that will be interoperable across
expressions set firm.

So microarray technologies and another expression technology, RT-PCR,
and because the diagnostic development community is developing tests in
expression using RT-PCR and microarray technology, we felt that it was
really timely to try to develop some control materials that could be
used across platforms. Every major microarray manufacturer and many
minor microarray manufacturers are participating in this effort, reagent
manufacturers who produce RT-PCR kits are participating, we\'ve got
biotechnology, pharmaceutical, and diagnostic companies participating,
four different divisions of the FDA and other regulatory bodies are
participating as well as academic laboratories and the National
Institute of Health.

It\'s open to the public, our ways of working \-- everything is
published, it\'s a volunteer organization, it\'s consensus-based
decision-making, this probably sounds familiar to you from the
perspective of ways of working.

Our first deliverable was try to develop a protocol for the use of
external RNA controls in the clinical setting. In this document we used
the mechanism of the Clinical and Laboratory Standards Institute, and
that protocol was published, that guideline was published in August of
last year.

So we\'ve achieved our first deliverable, we will begin testing donated
control materials, they\'re all deposited in the public domain, and
we\'ll begin that testing this month at a number of different sites
worldwide. And what we\'re hoping to achieve is consensus on a set of
controls that work across platforms and then working within this to
advance these to the level of a certified reference material.

And there was a progress report published in Nature Methods in October
of 2005 on this, and if you\'d like more information on this, I\'m
chairing this committee and I\'d be happy to talk with you about that in
more detail if you have interest in it.

If you go on to the next slide, this is the Clinical and Laboratory
Standards Institute, I imagine that most of you are familiar with CLSI,
it\'s global, it\'s nonprofit, they have an excellent website, and I use
their harmonized terminology database almost every day. And it\'s a
tremendous resource.

The document that I mentioned that the ERCC was most interested in
getting produced and working with the international community on, if you
go to the next slide, that\'s described, that document is described on
the next slide. The CLSI molecular methods document number 16 guideline
for use of external RNA controls in gene expression assays, took us two
years using the CLSI (indiscernible) accredited process to get that
document drafted, approved, and published. If you go to the next page,
the next slide.

You\'ll see that there\'s another initiative that\'s currently underway
for the verification and validation of multiplex nucleic acid assays.
This is a proposed guideline that is currently in development. And
again, this draws on the international community to develop a
consensus-based document for the use of multiplex nucleic acid assays.
This is genomic level information, this one is really more focused on
DNA, the first one was more focused on RNA.

And then if you go to the next slide, there\'s another organization
called the Clinical and Laboratory Genomic and Genetic Standards Group,
this is another volunteer organization that I\'m leading, not by design,
but sort of by default. We now have 90 participants from about 60
organizations in 19 countries. There is considerable overlap in the
membership between the folks participating in the Clinical and
Laboratory Genomic and Genetic Standards Initiative and the CLSI MM17
document. The reason that we did that was for alignment between the two
efforts. Again, there is this real interest on the interoperability of
the best practice guidelines, and the control materials themselves
across technologies and across platforms. The way information is
supported, the terminology that\'s used, the metrics that are used, and
the way the quality information is reported.

And so there\'s a desire for interoperability with other technologies,
and we\'re trying to leverage the information that\'s already out there
in this community. There are many, many labs worldwide that do genetic
testing. They maybe use a single analyte, but they\'re doing genetic
testing. They\'re using family information, but all in all if you really
step back from it, it\'s the certain type of predictive information that
is genetic.

And so what we\'re trying to do is leverage this considerable expertise,
and develop a recommendation document for how controls are selected and
qualified for genetic tests.

And what we\'re trying to do is extend that to these new technologies,
so that we\'re not creating something that\'s completely new, but
something that is already well characterized is now adapted to these new
technologies. And that\'s the goal of this. As well as hosting a forum
for driving consensus on characteristics and output of algorithms for
microarray DNA-based genomic tests. So those are the current initiatives
of that group.

Then if you go to the next slide, I just included a slide here, and I
know many of you are very keenly aware of this, and involved in OECD,
but these are some recent projects at OECD biotechnology working group
that I felt were relevant to this community. There was an international
pharmacogenomics standards meeting in Rome in 2005 to really talk about
the introduction of pharmacogenomics into clinical testing, and the use
of (indiscernible) was discussed in that meeting as well as other
assays. There was the development of a guideline for quality assurance
of molecular genetic testing and best practice guidelines for genetic
testing. Both of those are being advanced for approval within the OECD
by the 30 member countries as well as China, and that\'s happening this
month.

And then there was an extra \--

**[\>\> DOUGLAS HENLEY:]{.underline}**

Janet, if I could interrupt you for a second. There\'s some background
noise that we\'re getting over the phone. So for those of you who are
just listening, if you could mute your phones, that would be helpful so
we can hear Janet better.

**[\>\> :]{.underline}**

What it is, it\'s construction outside. Here in D.C.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Okay.

**[\>\> :]{.underline}**

We have Florida here today.

**[\>\> :]{.underline}**

It\'s 60 degrees, we opened up the windows. We\'re trying to close them.
Is that better?

**[\>\> DOUGLAS HENLEY:]{.underline}**

I think so.

**[\>\> :]{.underline}**

Okay. Now we\'ll start to boil.

**[\>\> JANET WARRINGTON:]{.underline}**

So the OECD initiatives are basically listed here. The guideline that\'s
mentioned in bullet point number two and the best practice in bullet
point number three, those are being advanced for approval by the 30
member countries and also China, toward the end of this month.

Then there\'s another project that is called the microarray quality
control project. This was initiated by Dr. Leming Shi at the FDA. This
is really what I would consider upstream of standard controls and best
practice guidelines, it was really to address some concerns that had
been voiced in the community about the intra- and interlab
reproducibility of microarray-based expression assays. I include it
because it was considered in some circles as a standards initiative,
although again I would caution you with respect to the interpretation of
the term "standards".

There was \-- there were a series of reports that came out of this that
were published in Nature Biotechnology in the September 8th issue, it
all looks very favorable, they\'re very nice publications. There\'s a
current initiative underway by an expanded group of individuals from
that community, I think there are 400 people now on that mailing list,
to develop recommendations and best practices for methods of signature
extraction from expression assays. Again, I would suggest that this is
probably quite a bit upstream from the goals of this working group, but
I wanted to include it just so that people are aware of it. And if I\'m
missing the big picture here, you guys would catch that.

So, and then if you move on to the EU project EMERALD, I have to admit
this is something that has recently been brought to my attention. Martin
provided these slides for me, Martin is in Belgium, and he\'s
participating in this effort, I think he\'s one of the persons leading
this. I wanted to just bring this to the attention of this group.
Frankly, I don\'t know a lot about this, they\'ve just invited me to be
a member of their \-- on their advisory board, so I\'m expecting that
I\'ll learn more about this in coming months.

It\'s really \-- the function right now is to build consensus on
laboratory practices for quality assurance and quality control in the
microarray community, and that\'s pretty much all I know about it.
Except that they\'re planning workshops, and there\'s a list of the
planned workshops on the next slide, slide 13. So if we go on to slide
13, there\'s the aims.

And then go on to slide 13. There we go. What I like about this is
they\'re tightly integrating their activities with the activities of
MGED, which I think is a really positive thing, so these two
organizations will be integrating and aligning their efforts. And if
you\'re not familiar with the Microarray Gene Expression Data Society, I
added a slide at the end of it, that's on slide 14, this is the current
focus of their activities.

And as far as I\'m concerned, it looks like these are really forums for
building consensus in that community. But again, this is probably
somewhat upstream of the work of this group. But I wanted to include it
so that you could make that decision, it\'s not for me to decide. And
then I have a summary slide.

So I\'m open to any questions. This may not have been comprehensive, but
these are the activities that I\'m involved in this some way, shape, or
form. So I thought I\'d bring them to your attention.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Thank you, Janet. Any questions from the Workgroup to Janet? All right.
Very good, Janet, thanks very much. Good summary.

I guess we\'ll next go to Betsy Humphreys.

**[\>\> BETSY HUMPHREYS:]{.underline}**

Just advance to the next page.

**[\>\> MATT McCOY:]{.underline}**

For all the presenters, it takes about three seconds for the slides to
refresh, so keep talking and they\'ll be refreshed if you get going.

**[\>\> BETSY HUMPHREYS:]{.underline}**

Fine, I know we have a long agenda here, and maybe we\'re on schedule or
only a few minutes behind, and I\'ll try to keep us on schedule.

I think that from the point of view of this group, I just gave you a
pointer here on the slide and a more readable URL because from this page
you can get to more background on what NLM\'s activities are that relate
to the working group initiatives.

Off this page that you\'re looking at is the fact that NLM does
participate in the Health Information Technology Standards Panel that
John described. I\'m a member of the board of that organization, too.

I think the key message is that NLM is involved in one way or another
providing financial support and making \-- and therefore making certain
clinical terminology standards freely available for use, in some cases
within the U.S. and in other cases just freely available for the use
internationally. And the key ones are SNOMED-CT, LOINC, which has
already been mentioned and I think will come up again in the next
presentation, so I won\'t emphasize it here, except to say that it is a
standard naming and coding system for tests and results, and is
therefore something that is certainly directly relevant to the concerns
of the working group. And I know that the LOINC group is very interested
in expanding LOINC as necessary to take care of the needs of
transmission of genetic tests for clinical reporting purposes.

SNOMED-CT may also have a role to play here, perhaps not quite as big as
LOINC, and I can tell you that SNOMED-CT is undergoing a transition that
is very likely to occur, which is that the College of American
Pathologists will transfer ownership of the property of SNOMED-CT from
the College to an international health data standards organization,
which is under formation. And that standards organization will then take
up the effort to define \-- to work with LOINC and other standards
development organizations to define prospectively cleaner areas of
responsibility between the two standards going forward. So that is work
that I expect \-- the transfer I expect to take place in our lifetimes,
like within the next three months or so, give or take.

And I know that high on the agenda of both groups, the newly-forming
international standards organization and LOINC, will be defining a
cleaner division between the two standards, which may be relevant in
this area, as it will be in other areas. The National Library of
Medicine will be representing \-- or shall we say will be paying the
bill for the U.S. in terms of joining this new organization as it is
currently paying the annual fee to make SNOMED-CT available for use
within the U.S. without charge to individuals.

I don\'t think that I am going to do more than state that, because I
think that\'s the most directly relevant to what we are discussing
today. This page, going through it you will see a variety of activities
that are not unrelated to this, but I think that\'s the most directly
related thing. And if I stop there then we\'re roughly on schedule.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Thank you Betsy, very much. Questions to Betsy?

**[\>\> MARC WILLIAMS:]{.underline}**

Yeah, this is Marc Williams, just a comment. This issue has come up once
before in the context of the discussions, and given the more traditional
genetic test is also under our umbrella, I think it\'s only fair to
state that the current coding systems, whether that be the ICD9 or 10,
or SNOMED-CT, are woefully inadequate from the perspective of genetic
disorders.

And I don\'t know if it\'s within the purview of this group to note
that, and perhaps make a recommendation regarding engagement. Because I
can tell you on behalf of the American college and a number of other
groups that have tried to engage with these groups to improve this area,
we have been spectacularly unsuccessful in terms of getting much
interest in this.

You know, the comment I always make is that ICD9 is actually a code for
weightlessness, which I don\'t think comes up frequently in the clinic.

**[\>\> BETSY HUMPHREYS:]{.underline}**

I think that that is a very good addendum and comment, and I think that
it is \-- let me just say that it is my expectation that the
transformation, the change in the ownership of SNOMED, and the ability
to focus attention on priority activities related to the extension of
SNOMED in this area, I expect the situation to improve, and I think that
this working group, and \-- obviously we are going to be in a position
to focus attention on this, and I believe get action in this area.

**[\>\> JOHN GLASER:]{.underline}**

Yeah, Marc, I think that would be fair game. I mean, if our view of the
charge is we want to make sure that the standards move forward, and the
standards necessary to sort of support a genomically-enabled EHR, then
it would be in addition to test results moving from point A to point B,
it might be other classes of data. Including stuff you brought up
before, such as family history.

**[\>\> ANDREW WIESENTHAL:]{.underline}**

John, this is Andy Wiesenthal. And I would add to that having been, as
Betsy may know, I was on the SNOMED national authority, the board of
SNOMED before it moved into this standards development organization, in
Copenhagen. The real critical problem has been they don\'t have enough
people to model the terms that everybody needs. And so a way of jump
starting that would be if within the genetics testing community there
are people who have dual expertise, not just at understanding the names
and meanings of the tests, but also understanding SNOMED. So that they
can provide the new organization with suggested terms.

**[\>\> BETSY HUMPHREYS:]{.underline}**

In that, picking up on that thought, I think you have assessed the
problem correctly. And I think that one of the goals of the new
organization is in fact to expand the bandwidth of modelers and people
who are trained to do this, and to essentially increase in various
countries the number of folks who can productively provide input to the
expansion of the core of SNOMED.

**[\>\> ANDREW WIESENTHAL:]{.underline}**

Exactly. And I\'ll take it offline, I\'m not sure who the person who
made the comment \-- the woeful countenance person, the woeful
countenance, but anyway, just call me.

**[\>\> BETSY HUMPHREYS:]{.underline}**

Marc.

**[\>\> ANDREW WIESENTHAL:]{.underline}**

Marc. We actually have in my organization had to do a lot of internal
expansion of SNOMED because it is lacking in many, many procedural
terms. So I can\'t guarantee, it but I\'m willing to bet that at least
some of the genetic testing that is at issue, we have coverage for. And
I can supply the Workgroup with what we\'ve come up with for our own
internal purposes.

**[\>\> TIM O\'LEARY:]{.underline}**

This is Tim O\'Leary from VA with Joel Kupersmith. The other comment
that one might make is structurally there\'s some question in my mind as
to whether SNOMED is really capable of dealing with characterization of
a whole human genome.

**[\>\> ANDREW WIESENTHAL:]{.underline}**

Don\'t go there.

**[\>\> TIM O'LEARY:]{.underline}**

Point is there are other organizations. And there\'s a mutation
nomenclature working group, for example, that\'s more or less associated
with the HUGO umbrella, maybe Muin can speak more to this, that\'s
working on some of these problems. And it\'s I think really important to
hear particularly what those folks are coming up with. Because as a
framework, it\'s likely to be a more adaptable for the future than those
frameworks which we\'ve been using in \-- at least within the laboratory
community in the past.

**[\>\> JOHN GLASER:]{.underline}**

If I can make a suggestion, I think this is terrific stuff, stuff that
we ought to make sure we don\'t forget. And Andy you guys can take it
offline, but do come back. Because this would be the essence of the
series of conversations we\'ll have in the meetings ahead. If I could do
a little bit, along with Doug, of bringing us back to the agenda here
providing background, if you guys don\'t mind that. But again, I don\'t
want to lose the threads and the ideas that we\'ve just heard, because
we need to go \-- come back to those.

**[\>\> BETSY HUMPHREYS:]{.underline}**

I certainly agree with that.

**[\>\> JOHN GLASER:]{.underline}**

Any other questions or comments for Betsy? All right, Marc, I believe
it\'s yours.

**[\>\> MARC WILLIAMS:]{.underline}**

Yes, so in the interest of full disclosure let me just say I\'m an
informaticist\'s worse nightmare, in the sense that I\'m the guy that
shows up with the crazy ideas and completely ignores anything relating
to how easy or difficult the process might be, and just says please
develop this for me.

So rather than actually try and explain something that I know very
little about, I\'m going to yield my time to my distinguished colleague
from the Clinical Genetics Institute, Grant Wood, who is a member of the
HL7 clinical genomics special interest group, and he\'s going to briefly
talk about HL7.

**[\>\> GRANT WOOD:]{.underline}**

Thank you very much, Marc, can we move to slide two, please? Two years
ago several forward thinking physicians at Intermountain Health Care
formed the Clinical Genetics Institute. We put our goals in a brochure,
and I have included the most important goal, in my humble IT guy
opinion, in my first slide. That goal is link genomic and family medical
history data to the electronic medical record, to provide advanced
genetics-based tools for the clinician.

I\'m sure many of us who are working in the area of personalized
medicine share this same goal. Slide three, please.

The frontier of genomics and clinical care, however, brings with it
several challenges. First of all, the data created by clinical genomics
would be much greater than your collection of U2 videos. And secondly,
the clinical research and clinical care systems will need to become more
integrated. Some basic questions are how do we store genomic data, what
data do we store, what format would be the most useful for the
clinician.

We thought that the HL7 clinical genomics models would be a good place
to start. Slide four, please.

Let me begin with a quick overview of HL7 for those who are not familiar
with its work. HL7 is an international community of healthcare clinical
and informatics experts collaborating to create standards for the
exchange, management and integration of electronic healthcare
information. It is divided into technical committees, the list is very
comprehensive, including both clinical and administrative areas.

We encourage everybody in the healthcare industry to participate in HL7,
and especially those interested in clinical genomics.

We want to collaborate with healthcare information technology users to
ensure that HL7 standards meet real-world requirements. Slide five,
please.

The HL7 clinical genomics mission is to create standards which enable
communication between interested parties of clinical and genomic data.
The focus of the clinical genomics work is the personalization of the
genomic data and the linking to relevant clinical information.

The three main models are the genetic locus, genetic loci, and family
history, which are currently approved as draft standards for testing,
but will soon be approved as a normative or fully accepted standard.

A key point here is the last bullet. Where we are always looking for
partners who will join the current early adopters in testing the models
in real-world environments. Slide 6, please.

This slide contains the graphical representation of the genotype model.
Lucky for all of us, time will not permit me to explain this model in
detail. Actually, I notice that on the -- the model actually appears
behind all the boxes that are appearing in the foreground.

Let me first acknowledge that this model, this and the next few slides,
are the work of Amnon Shabo, who is a co-chair of the HL7 clinical
genomics special interests group. He also has a day job at the IBM Haifa
research lab. 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 healthcare, built with the vision of
personalized medicine in mind.

The entry port or the entry point of the model consists of a genotype
locus, but will also store individual alleles; biosequencing data such
as DNA, RNA, or protein; sequence variations like mutations, SNPs and
haplotypes; genoexpression data, and the related clinical phenotypes
such as diseases and allergies.

An important design characteristic is that this is a shared model or a
reusable component which works regardless of use case. At the same time,
it allows the representation of fine-grained raw 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.

Most of the objects in the model are optional, thus allowing the
representation of only gene mutations, which would constitute the
minimal data set.

The clinical phenotype in the model is an actual observation valid for
the patient which is associated with a genomic observation. The genotype
model will also work for pharmacogenomic-based clinical trials and
submissions. Slide 7, please.

Allow me to make an editorial comment at this point. We strongly believe
that any integration of genomic data in the electronic health record
must include the raw sequence data. As an illustration, a genetic test
result could return a positive result, meaning we have identified a
variation known to cause a disease. The result could also be presumed
positive, meaning we have not seen enough cases of this variant in the
population to know for sure that the variant is causative, but the
effect on the downstream protein is significant enough where we think it
will probably be causative.

Or another result could read unknown significance, meaning it is
impossible to attempt to predict the effect of the variant at this time.
Because our knowledge in the interpretation of clinically significant
variants or mutations is constantly being updated, we need to have the
full sequence data with every test result. Retesting because new
findings are available certainly is not very efficient. Slide 8, please.

The genotype model is designed from the ground up to provide dynamic
reporting of data for clinical decision support. We call this
encapsulate and bubble up. In the use case of warfarin dosing a
cardiologist may have a patient he or she wishes to start on warfarin
for chronic anti-coagulation. 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 this 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. For example, BSML, or bioinformatics
sequence markup language, is a current very popular format aimed at any
biological sequence, for example DNA, RNA, or protein.

Another format MAGE-ML or microarray gene expression markup language, is
the standard for gene expression data. When the results of the test are
available, the data is bubbled up and fed to the algorithm, where the
optimal dose is calculated. The bubbling up process can take into
account the most up-to-date knowledge and patient-specific condition.

This part of the model is very dynamic, just like the knowledge base in
the center of the slide, which holds the current but changing knowledge
of the clinically significant biomarkers. Slide nine, please.

Last fall the clinical genomics group became involved with the AHIC EHR
Workgroup. With the help of Dr. Karen Bell we were very pleased when the
family history made the top ten 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, we feel that this is the best tool to start with
personalized medicine. We know how to use family history today, we can
add the genomic information as it comes online. Slide 10, please.

An HL7 model for family pedigree also exists. A number of
pedigree applications are in use by healthcare professionals, for
example CH gene to determine cancer risk, as well as the CDC and Surgeon
General family history programs used by patients and the public. Each
have their own internal proprietary format of representing data for
pedigree drawing and maintenance of family history information.

With widespread acceptance, we envision that any pedigree application
will be able to send and receive an individual\'s family history
information using this HL7 specification, either electronically or
through import or export routines that will be developed for each
pedigree application.

Slide 11, please. There are healthcare organizations that have already
implemented and are testing these models. Dr. Kevin Hughes, co-director
of the Avon Comprehensive Breast Evaluation Center at Mass General has
incorporated the family history model in his cancer risk application.
The Harvard Partners Center for Genetics and Genomics started in June of
last year storing genetic data in their EMR, and to date have more than
79 structured genetic test results in their system. They have a goal in
March of this year to code the first clinical decision support rule and
leverage those stored genetic test results.

Most healthcare 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 are currently collaborating to establish an inter-institutional
interface for passing structured genetic results.

The interface will enable to us further test these standards as well as
potentially serve as a prototype for other organizations. The goal with
all of these efforts is simply to create interoperability across the
country. Slide 12, please.

For more detailed information and walk-through of these models, please
follow the link on the slide to get the HL7 clinical genomics documents.
If you want to speak with the model expert, and I am certainly not the
expert, please contact Amnon Shabo, and I have included his e-mail, and
as part of the meeting materials there\'s a PDF file entitled "Clinical
Genomics Data Standards for Pharmacogenetics and Pharmacogenomics," and
that is an excellent reference and was written by Amnon.

The HL7 clinical genomics members look forward to working with Greg
Downing and the personalized medicine Workgroup, and encourage others to
become involved in HL7 activities.

Marc, was there anything that you wanted to add?

**[\>\> MARC WILLIAMS:]{.underline}**

No, I think that was a good summary, Grant, and we\'ll be happy to take
any questions.

**[\>\> JOHN GLASER:]{.underline}**

Questions for Grant or Marc? There are none. Nice work, gentlemen. Jodi,
look forward to hearing from you.

**[\>\> JODI DANIEL:]{.underline}**

I\'m Jodi Daniel, I\'m the director of policy and research here at the
Office of the National Coordinator, and I just wanted to reiterate John
Loonsk\'s comments, and thank everybody who is devoting their time to
working on this, and our excitement with the Workgroup as it relates to
(inaudible).

We\'re looking at the policy issues. Privacy and security of health
information is really one of the prominent issues, and probably the most
prominent issue that we have been spending our time on. Because it
really requires that we have the trust of consumers for any of this to
work, for any health information to flow, and for people to trust that
when information is being shared for treatment purposes, that it is
going to be protected and that they don\'t have risks in that sharing of
information, or unnecessary risks.

I also, when I spoke with Greg Downing when this Workgroup was being
formed, we were talking about a number of policy issues, particularly
privacy issues that are raised by genetic information. And I will try to
stay involved in the discussions of this Workgroup as policy issues are
raised to help think through where there might be some linkages to some
other activities that we\'re doing or where there may be some
opportunities as you\'re thinking through some of these issues and
recommendations.

But what he specifically asked me to come and talk about here today is
the role of this group and the intersection with our Confidentiality,
Privacy and Security Workgroup, which is taking on some of these issues.
And this is really just the beginning of this discussion, I think it\'s
something we\'ll have to continue to talk about as issues are raised and
how best we can coordinate the efforts of these groups.

So just briefly, the CPS Workgroup, as we call it, was first formed or
first discussed at the AHIC meeting in May of 2006. Three of the initial
workgroups that were formed \-- the Chronic Care Workgroup, the Consumer
Empowerment Workgroup, and the Electronic Health Records Workgroup \--
had recommended creating a new subgroup focusing on these issues.

They were all talking about similar types of issues across the different
workgroups. They didn\'t necessarily have the expertise on those
workgroups, and they were concerned that having those conversations in
isolation were not the best way to have those conversations. So they
recommended that a separate workgroup be formed, and that\'s how the CPS
Workgroup came about.

Specifically, they said that the workgroup should frame the privacy and
security policy issues relevant to all the Community charges and solicit
broad public input and testimony to identify viable options or processes
to address these issues that were coming up in the workgroup
discussions.

We have members from those three workgroups that have recommended the
formation of the CPS Workgroup from Chronic Care, Consumer Empowerment
and EHR to make sure that the CPS Workgroup understands the discussions
and the issues that were being raised as they relate to the specific
topic areas. And we also have a representative from the National
Committee on Vital and Health Statistics to make sure we\'re
coordinating with some of the discussions and efforts that they\'re
doing there as well. Then we have members from provider groups and
providers themselves, state public health officials, some Feds from DOD,
VA, CMS, consumer privacy advocates, health plans, and technology
experts to try to round out that group.

Originally it was supposed to be a subgroup of the Consumer Empowerment
Workgroup because the thought was that privacy and security issues were
really sort of consumer trust issues. But we decided to raise it up to a
full workgroup, because it really was such an important set of issues
that they were discussing, and we wanted that group to be able to report
directly to the American Health Information Community on their
recommendations.

So the charge for the CPS Workgroup, there\'s a broad and specific
charge, just like this group and all the other workgroups, 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 specific charge more directly related to the specific breakthroughs
that John Loonsk had mentioned. It\'s to make actionable
confidentiality, privacy, and security recommendations to the Community
on specific policies that best balance the needs between appropriate
information protection and access to support and accelerate the
implementation of consumer empowerment, chronic care, and electronic
health record related breakthroughs.

So a lot of activities we are looking at in the context of the specific
breakthroughs, although the Workgroup has had discussions about how the
recommendations would apply more broadly. And you\'ll notice when we
come up with recommendations we try to \-- we\'re trying to clearly
articulate where it\'s related to the specific breakthroughs and where
we think there\'s a broader application, or where it may need some more
thinking in order to apply it more broadly.

The first meeting of this workgroup was in August of 2006, so it\'s a
fairly new workgroup, it was just formed a few months back. And the
first topic that the group took on, or the first topics, were identity
proofing and user authentication. There were hearings on those topics,
and very quickly we realized those two topics really did need to be
separated, they were both fairly technical and complex issues. And the
groups narrowed the focus to patient identity proofing and left user
authentication to another discussion.

Specifically, the way it\'s been defined, identity proofing has been
defined, is the process of providing sufficient information, identity
history, credentials and documents, to correctly and accurately
establish and verify an identity of an individual for use in electronic
environments.

The first set of recommendations from this Workgroup will be at the next
AHIC meeting on January 23rd, so stay tuned for some more \-- for the
first work product from that group.

We have a meeting next Monday, on January 8th, in order to finalize
those recommendations. And the other thing that we\'re going to do
during that meeting is to set some priorities for the next year, to try
to establish a work plan for the next year.

So the Workgroup members have given some feedback to us on where they
think we should be setting priorities, and where we should be starting
to focus, and we will be having a public discussion about that on
Monday. So the hope is that we\'ll pick a couple of topics that we will
be taking on in the next year as a focus.

The \-- some of the topics that were recommended, both from the other
workgroups as well as from some of the members of consumer empowerment
were \-- excuse me \-- were methods of patient identification and
authentication, as I had mentioned, methods for controlling access to
personal health information, both accessing information \-- excuse me,
sorry \-- methods for accessing information from electronic health
records, making information available in personal health records, and
the like, as well as some issues regarding consumer control of
information, you know, should there be opt in and opt out, are there
roles for consumers in use and disclosure of information.

As well as guidelines and processes to determine appropriate secondary
uses of data. That issue actually has come up in some of the newer
workgroups, as well, in the Quality Workgroup, as well as in the
Biosurveillance Workgroup, which wasn\'t one of the ones that
recommended the formation of this group, but clearly, there\'s a lot of
overlap on this issue across the different workgroups.

We are trying to focus at least initially on issues that advance the
breakthroughs. Since those are shorter term initiatives, we want to make
sure that if there is an issue that is maybe a stumbling block or that
can help advance a breakthrough, that we focus on that first. So that\'s
one of the things we\'ll be looking at as we\'re setting priorities.

We also are trying to understand what the existing framework is for
protections, and looking at where some of the health IT initiatives
raise new issues.

So, you know, where there might be new entities that are being formed,
like personal health record vendors, that might be something that sparks
some new interest, and I think with this group, similarly, where genetic
information may raise new and different issues that may not have been
adequately considered in some of the other privacy policies that have
been developed.

I know Amy McGuire is going to be talking a little bit more about
privacy and genetic information, so I won\'t go into too much detail
there.

Looking at the interaction between this group and that group, I think
there\'s a lot of flexibility here. The group was formed in response to
three of the other working groups. I think as issues are coming up that
are similar to some of the issues that may be raised in other contexts,
it would be a great idea to have this Workgroup either defer to them or
consult with the CPS Workgroup on those. Perhaps where there are issues
that are unique to this Workgroup, that they might be best addressed in
this Workgroup. And I think this is going to be an ongoing dialogue on
what the best way is to address some of those issues.

I do plan to stay engaged in the activities of this Workgroup, and work
with Greg so that we can help figure out the best way to do this.
There\'s obviously some bandwidth issues with the CPS Workgroup as
they\'re taking on issues from lots of different Workgroups that are
pretty sticky. So we\'ll have to figure out how best to balance those
out.

Also I just want to note that Deven McGraw is a member of both this
Workgroup and the CPS Workgroup, so she can also be helpful in
coordinating and making sure that the two Workgroups knows what each
other is doing. Just happy to be a part of this, and to provide any
guidance, expertise, and assistance that I can as some policy issues
come up, both privacy and other policy issues come up, and figuring out
how they can best be connected. And I\'ll be happy to answer any
questions about the Workgroup, or other issues that we\'re working on
that might be related.

**[\>\> GREGORY DOWNING:]{.underline}**

Thank you, Jodi. John, Doug, I wonder if I can just have a minute here
to kind of replay some of the discussions from the September 12th
meeting that initially came up, and then was followed up in the October
meeting. Would that be okay, to just take a minute or two?

I think Al Berg was one of the speakers and remains in connection with
our working group, but really, one of the balancing acts that we\'re
looking at here is the notion of not providing cases of genetic
exclusionism as a focus here, and that there have been a number, and I
think Mark Rothstein is probably not with us today, emphasized this to
us as well, that information that we\'re talking about here with
specific aspects to genetic information that can be used to identify
individuals, that we\'re not creating specific rules just around
specific laboratory tests to address those concerns. That the electronic
health record overall should have a high level of attention to it from a
security perspective.

At the same time, we recognize that some aspects of the genetic
information that Amy is going to talk a little bit about, some of the
concerns that are emerging are really the capabilities that new
technology and the feasibility of linking various information sources
together really come about in the world post-HIPAA in which many aspects
of privacy rule protections and the elements of that really couldn\'t
have been conceived at a timepoint when these were initially being
developed.

So one of the things we\'re discussing internally with the Department
are mapping out, you know, where are the gaps, and what are the current
levels of protection by various laws, regulations, and statutes, both
federally and on a statewide basis. And we\'ll try to put this together
in a fashion that\'s useful for this working group and perhaps for CPS
as well.

But it\'s a very complex area, obviously, but I think it\'s one that
because of the nature of the information being collected here, and to
the point Grant made earlier, that more and more we\'re hearing about
capturing of sequence information in laboratory tests in some way, that
this makes this I think an issue that really has to be confronted by
this group in some fashion. And at least facilitating the dialogue with
accurate interpretations of what\'s currently in place, and where the
gaps are, I think are one of the challenges that AHIC itself really
pointed out that this working group must take on. In a very narrow
fashion and with the context of genetic laboratory tests, but not to an
exclusionary point that it has overbearing effects on other laboratory
information or clinical information in the records.

So I just wanted to sort of recap that from how we got to this focus in
this group, and there may be others on the call here that want to
contribute, that were part of that, and they want to contribute to some
of those points.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Questions to Jodi or Greg. Thank you both very much for good summaries
of the issues of confidentiality, and privacy, and security. I\'m sure
we\'ll be hearing more about that as we proceed.

Let\'s go next, on that same topic of privacy, let\'s go next to Amy
McGuire for her presentation about this issue as well.

**[\>\> AMY McGUIRE:]{.underline}**

Thank you very much for including me in this and inviting me to talk
about this today, and I think that was a great introduction. And I agree
that it\'s really important that when we talk about privacy and
confidentiality we think about all of the information in the electronic
health record, but I was asked today to talk about the narrower issue of
de-identification and privacy concerns associated with that. So I will
address that in the next few minutes.

I think it\'s helpful to start by defining some terms, because I often
find that in conversations such \-- on topics such as these, people are
talking about things using different terminology and it\'s very
difficult to figure out what everybody is talking about. So I offer here
some terminology that others can contribute to, or we can decide what
language we want to use, but this is taken primarily from Bob Weir and
Robert Olick\'s book, "The Stored Tissue Issue".

And it\'s really referring to the identity status of stored tissue, DNA
data, and genomic-genetic information, and I think that we can
categorize it, for our purposes, into two major categories. The first is
"identified", where the information that we\'re talking about is
actually attached to traditional identifiers, what we would think of as
traditional identifiers, things like your name, address, Social Security
number, medical record number. So when you have these samples or DNA
data or genetic information imbedded in the electronic health record and
it\'s connected to other information, phenotypic information that would
easily identify somebody, then we can refer to that as "identified
data".

Then there\'s the "de-identified data", and I put that in quotes because
whether it\'s actually de-identified I guess is somewhat under debate.
But there\'s two ways you can traditionally de-identify data. You can
either link it or code it, where you take the data or the sample and you
link it to traditional identifiers through a numeric code and somebody
has a key to the code but others looking at the data don\'t necessarily
know to whom it belongs, or you can anonymize it or have anonymous data
where there is no link to traditional identifiers that are maintained.

I think that traditionally, it has been assumed that de-identification
is an appropriate means of protecting privacy, and I think it has been
in the past. And there from a regulatory perspective have been
additional protections provided for identifiable information, and the
interpretation of what constitutes identifiable information is very
important because it identifies to whom and to what information those
additional protections apply.

I just wanted to put up what some current interpretations of
identifiability are. And some of the \-- these have been somewhat
questioned in the last couple years, so we can talk a little bit about
that.

But two forms of protection for identifiable data come under the common
rule for research involving human subjects and under HIPAA. And as you
know, the common rule applies to research involving human subjects, and
human subject is defined under the regulations as a living individual
about whom an investigator obtains either data through intervention or
interaction with the individual, or identifiable private information.

A 2004 OHRP guidance document, it was explicitly 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. So if for example you have a clinical investigator
or a surgeon who is taking a tissue sample from a patient with
appropriate consent and they then code the sample or the genetic
information in that sample, and then pass it along to a secondary
researcher who does not have access to that code, under this guidance
document, I think that the secondary researcher who does genetic
analysis would not be considered doing human subjects research under the
common rule.

According to HIPAA, HIPAA, we all know, restricts access to and use of
identifiable protected health information, and again, in 2004, the
Department of Health and Human Services guidance document stipulated
that neither blood nor tissue or the results from an analysis of blood
or tissue are in and of themselves considered individually identifiable
health information.

So if they\'re not linked to other identifiable health information,
those samples or data or information are not in and of themselves
identifiable.

So the question has been raised more recently, with the emerging
technologies and sort of the state that we\'re in now, is whether DNA is
itself a unique identifier, and whether there needs to be some
reconsideration of what we consider identifiability when we\'re talking
about genetic data that\'s not linked to other types of identifying
information.

In 2004, Zhen Lin, Art Owen and Russ Altman published this policy forum
in Science Magazine where they talked about the ability to identify an
individual from a DNA sequence. And they pointed out that specifying DNA
sequence in only 30 to 80 statistically independent SNP positions would
uniquely identify a single person. And of course, if you have SNPs that
are relatively rare, then the number that you need to identify an
individual becomes smaller. And if you have additional information about
the person, such as kinship information, then it becomes even easier to
identify the person.

And there\'s been more recent work done on linking at least publicly
released sequence information or data with information in other
electronic health records or, I\'m sorry, electronic databases, not
electronic health records, but electronic databases and it\'s been shown
that there is the possibility of linking up that data to identify
individuals and get more information about that person.

So in this article they concluded that the transition from what is
private to what is identifiable is very rapid.

In April of this past year, 2006, I published, along with Richard Gibbs,
who is the director of the human genome sequencing center here at
Baylor, an article in Science where we really relied on previous work
that was done out of Russ Altman\'s group, and we pointed out that
currently, ethical concerns about privacy to this point in time have
largely been addressed by ensuring that the data are de-identified and
that confidentiality is maintained.

I think there\'s been a lot of work done on developing data security and
new database structures, and I think that that is essential and should
continue to be done, and I think that we had a good discussion earlier
in the session about some of the things that are being done to ensure
database security.

But as the technology develops to secure data, the technology also
develops to breach those security measures. So I don\'t think that in
and of itself that is going to eventually be a sufficient enough
safeguard, although the efforts definitely should continue, and it\'s an
important component.

So we\'ve argued that additional safeguards are required, and I think
one of the main considerations, as Jodi mentioned, is this issue of
public trust, which is so essential to the advancement of genomics
research.

So I just wanted to end with some preliminary thoughts on what we can do
to protect privacy in the context of this increasing \-- increasing ease
with which we can identify individuals from genetic information. And I
put up here three main areas that deserve further attention and should
be on our radar screens. I\'m sure there are many other things that are
ongoing efforts that people are aware of that we can discuss as well,
but I just wanted to start with these.

I mentioned before data security, and I can\'t stress enough how
important I think it is. This is not necessarily my area of expertise,
but I think people that are working in the informatics area and have
expertise in this area are doing very interesting work, and I encourage
that to continue and am interested in what happens with that.

There\'s also the legislation, there\'s both state and federal
legislation that could address protecting privacy. I think when we talk
about legislation, it\'s helpful to think about two different types of
legislation with privacy protection. 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, protected health
information under HIPAA, then that could \-- may help limit access to
genetic information. There may be other state or federal legislative
mechanisms that we want to use to limit access to genetic information,
or not.

The second is prohibiting discrimination on the basis of genetic
information. And as most of us are aware, there\'s piecemeal state
legislation dealing with prohibiting both employment and insurance
discrimination on the basis of genetic information. There\'s currently
no federal legislation, although a lot of people would like to see some
get passed. I know also Mark Rothstein and others have worked more
extensively on that effort and may have greater insight into what the
probability of that happening is.

And then the third area that I wanted to address was consent, which is
really the area in which I do most of my research. And I think that it
really is essential to have a policy of transparency, and to really
develop well-designed consent processes and forms, in order to encourage
people to participate in genetic testing, genetic research, and be
really open about what the privacy risks are, to the extent that we know
them, and to have people decide and voluntarily choose to assume those
risks or not.

There\'s always the balance I think of \-- there\'s always the challenge
of balancing between protecting privacy and wanting to promote research,
and I think to some degree at a policy level we can sort of try to
strike where we think that balance should be, but ultimately I think it
is an individual judgment in at lot of circumstances and it\'s best left
to the people who are most affected by it, which are the patients or
research subjects or potential research subjects.

Of course when we\'re developing consent processes and forms there are
many challenges to doing this. I\'m very aware of them because I\'ve
been working on developing some of these forms, and it\'s not an easy
task. I think one of them is assessing what the privacy risks are today
and what they could be in the future. If technology continues to develop
at the rapid pace that it has been developing, I think it\'s very
difficult to predict what the privacy risks and other risks will be of
gaining access to genetic information in the future. So assessing that
risk is not easy to do.

Insuring that potential subjects and patients understand what those
risks are, and understand what the technologies are that we\'re going to
be using to do genetic testing, to do genetic genomic research, is also
very difficult. This is a very complex area, and oftentimes when I talk
to my scientific colleagues I don\'t even understand what they\'re
talking about. So I think it\'s very difficult to communicate that
information in a way that it\'s understandable to the general public.
But worth the effort.

And finally, I think it\'s also extremely challenging to predict what
future uses we might make of genetic information that we\'re collecting
and incorporating into individuals\' health records and using for
research. I think, you know, there\'s many samples, tumor samples, blood
samples that were collected 20, 30 years ago that we never could have
anticipated the kind of things that we want to use them for today, and
as a consequence there\'s some difficulty in what was consented to, and
having to go back to re-consent people or not be able to use those
valuable resources.

And so there\'s the challenge of trying to balance getting informed
consent, where you\'re really informing people sufficiently so they can
make a decision about what they would like to participate in or not, but
not limiting what you\'re telling them you\'re going to do to such an
extent that you can\'t use the information that they give you in useful
ways in the future.

And there\'s a big literature on whether we should be adopting a model
of kind of broad general consent when we\'re collecting samples either
for research or clinical purposes, or whether we should have more
specific consent and, you know, I don\'t think we can resolve that
today, but that\'s worth keeping in mind and focusing on.

So I will turn it back over for questions, or to move on on the agenda,
and thank you very much for \--

**[\>\> DOUGLAS HENLEY:]{.underline}**

Amy, thank you very much. Certainly your comments give us pause, I
think, to reconsider privacy in a different context than perhaps we\'ve
done before.

Let me, Greg, if I may, let me go back to Jodi Daniel if she\'s still
there, and just ask the question, given the information that Amy has
just challenged us with, is this the type of information that will go
back to the CPS Workgroup, that they will deal with, or is part of this
or all of this still subject to the agenda of this Workgroup?

**[\>\> JODI DANIEL:]{.underline}**

Yeah, I just don\'t hear a \-- I think, you know, some of it I think
there is some flexibility here on how we handle this, but it seems to me
that the specific comments that Amy is making about the unique issues
related to genetic information, or the fact that the ability to identify
an individual based on genetic information is improving, I think that\'s
probably something that\'s unique. And that would be something that this
group would probably be best to handle, because the CPS Workgroup
doesn\'t necessarily have the expertise on genetic information to really
think through those issues.

You know, some of the more general issues, like data security, I think
probably CPS would be best to handle, because they\'re not going to
necessarily be unique to genetic information, but really would apply to
all identifiable health information. Obviously depending on how we
define that term, as Amy pointed out.

And as well as some of the, you know, more general consent or the, you
know, patient involvement type issues. If there were unique issues
regarding consent because of the changing \-- you know, because of the
advancements in genetic technology that the group wants to discuss, then
you know I think that that might be better discussed here. It may be
that as \-- that you may want to have preliminary discussions here, and
then bump something to CPS where it might have broader implications.

So I think it\'s probably \-- you know, there\'s some flexibility here.
I think there are some things that are probably specific, and that this
group would probably have the most expertise on, and then there are some
more general issues that might best be best to work with CPS on.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Thank you, Jodi. Any other questions to Amy McGuire?

**[\>\> BETSY HUMPHREYS:]{.underline}**

This is Betsy Humphreys, I\'d like to make a couple of comments here. It
seems to me (inaudible) involved in this notion of identification of
people\'s genetic information from a totally different perspective,
which is we\'ve been involved in the, you know, cross-agency efforts to
assist with DNA identification of victims, and developing methods for
quality control, automated quality control of that activity through our
National Center for Biotechnology Information, that first came up in the
aftermath of the 9/11 and the identification of World Trade Center
victims, and more recently the technology has been applied to
identification of Katrina victims.

And this comes at DNA from a totally different angle from what is
involved in attempting to characterize DNA that would be used in
clinical decision support and activities related to that.

But it does bring up the same thing that people\'s DNA is not
protectable in a local environment. It\'s not. You know, I mean, it\'s
the piece of hair, it\'s the saliva in the coffee cup, or whatever. So
there are a lot of aspects of this. A person is \-- you know, if they
live in a cave, in a bubble or something, they might be able to protect
their genetic information from any possible incursion, otherwise they
can\'t. So the genetic discrimination and getting protection for people
from genetic discrimination is really, in the last analysis, their
protection against the misuse of these data.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Point well made, Betsy. Any other comments to Amy or her comments to us?

**[\>\>:]{.underline}**

I have a few here, Doug.

**[\>\> KATHY HUDSON:]{.underline}**

This is Kathy Hudson, I'm actually responding to Betsy\'s comments about
the forensic uses of DNA. And while I agree that we leave our DNA around
everywhere, and there are currently no protections for somebody, you
know, taking our coffee cup and using that in some way, I think, you
know, we could contemplate a system in which there were such
protections. So I \--

**[\>\> BETSY HUMPHREYS:]{.underline}**

I believe that what we could do, is we could \-- I think it\'s going to
be hard to lock up the coffee cup, so I really basically believe that
what we all need \-- and I think this may be an NHGRI\'s position as
well, but Allan can comment \-- is we really do need some level of
protection in law from genetic discrimination.

**[\>\> KATHY HUDSON:]{.underline}**

I agree, and my point, I guess, is it really goes beyond the current
contemplation of protection against discrimination, because the current
consideration is workplace, employer discrimination and health
insurance, and really what we\'re talking about is that anybody could,
you know, sequence your genome from something that\'s left behind and
make that information publicly available because you\'re a public
figure, or whatever. So I think it\'s a different kettle of fish sort of
from a legal perspective.

**[\>\> AMY McGUIRE:]{.underline}**

Can I make a point here? This is Amy McGuire. I think Mark Rothstein has
talked a lot about the anti-defamation statutes, and I think one thing
that is (inaudible) or challenging, and we\'ve been talking a lot about
it today, is where you draw the line what constitutes genetic
information. Because when we\'re talking family history, which a lot of
people have been discussing today as being part of that, it\'s hard to
discriminate what you\'re going to prohibit discrimination on the basis
of. We use family history all the time for things like life insurance
purposes and stuff like that. So I just wanted to point that out.

And I think, in my experience, I\'ve done a little bit of discussion
with individuals who have participated in genetic research, and what\'s
interesting to me is the realization that \-- and I don\'t know if this
is new, I don\'t know if there\'s data about this from years ago, but it
seems to me that just based on my observations that individuals are
concerned about discrimination from employment and insurance, but I
think particularly in today\'s environment there\'s also a lot of
concern about access to genetic information by the federal government,
and use for forensic purposes, but other kinds of national security
purposes as well, which I found kind of interesting.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Any other comments or questions?

**[\>\>:]{.underline}**

Actually, Amy, this is a question for you, from Becky Fisher, on your
slide number 4 \--

**[\>\>:]{.underline}**

I can\'t hear you.

**[\>\>:]{.underline}**

I\'m sorry, can you hear me now?

**[\>\> DOUGLAS HENLEY:]{.underline}**

A little bit better.

**[\>\>:]{.underline}**

Okay. On slide 4, current interpretations of identifiability. You have a
note that genomic data are not identifiable under a common rule if
they\'re coded. And my question for you is does this apply even when
consent forms say nothing about what happens to the residual samples? Is
that information still protected for the use of the researcher, and they
can use it however they wish, if the provider of the sample was not told
how it was going to be used?

**[\>\> AMY McGUIRE:]{.underline}**

I\'m not sure if I\'m totally understanding your question, but can they
use \-- if they\'re not told how it\'s going to be used and then it\'s
coded and used in ways that they weren\'t told about, is that okay, is
that what you\'re asking?

**[\>\>:]{.underline}**

Yeah, I think I (inaudible) if I\'ve thrown the word coded in there. My
concern stems from a recent finding that Myriad takes the residual blood
sample and uses it in research ways. And when I read your article, no
longer de-identified it, it was a concern to me, because I\'m certain
that that was not in the consent form.

**[\>\> AMY McGUIRE:]{.underline}**

Yeah. So I don\'t think that\'s terribly uncommon right now as a
practice, although it concerns me, as well, and I think that\'s one of
the things that prompted us to write that article. But \-- and I do have
to say that at some institutions IRB practices are more protective than
this interpretation would be. So I don\'t think, though, under a strict
reading of the common rule and the guidance documents, and if others
that have more experience in the development of this have a different
opinion, please speak up, but I think under a reading \-- a strict
reading of the guidance documents, that if you collect the data, and
then you somehow code it or anonymize it, even if your consent form
didn\'t say what you were going to do with it after that, if you forward
it to somebody that doesn\'t have access of that code, then they would
not be considered to be doing human subjects research and they would not
have to get consent or IRB review for what they are doing with that
sample. That\'s my reading of it.

**[\>\>:]{.underline}**

That\'s right.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Let\'s \-- in the spirit of trying to finish on time, I think we need to
move forward with the last areas of our agenda. So let me just kind of
lay those out very quickly in the next 32 minutes that we have. We\'re
next going to hear from our co-chair John Glaser in terms of laying out
a roadmap for our next meeting on February the 21st, then we\'ll have
some time for comments from the Workgroup relative to that presentation
or other comments that you have heard today. And then we\'ll open it up
for public comment before we adjourn.

So John, if you\'ll take over at this point in time in terms of the
roadmap for our next meeting.

**[\>\> JOHN GLASER:]{.underline}**

Sure enough, thanks, Doug. First of all, I thought all of the
presentations and presenters did a very nice job covering quite a
diverse range of terrain, and providing very useful background
information for our discussions ahead.

I suspect, and I\'ll just float this out to all of you, that what we
might want to do in February is begin to dive into the specifics of the
topics, and a suggestion would be that we start with the standards
arena, and I\'m going to \-- I think what we could do in February is to
lay out a \-- I use the term roadmap or a series of tasks that we will
undertake, and use the February discussion to make sure that those tasks
are \-- if it makes sense to everybody, and we have all folks'
contributions and thoughts about which tasks ought to be there, and
being clear about perhaps the content of a particular task. And we also
need to hear from the ONC staff to make sure we\'ve got something that
can be reasonably done given the resources and competing demands that
they have.

But to give you an example of task, and again these are offered, and
there\'s nothing written so I have the ability to disavow I ever said
them should you all shoot them down, one of the things we might do is
define the range of standards that we\'re talking about, or need to be
included here. There have been a variety of ideas that have been floated
today and in the prior conversation ranging from family history to
extensions to the diagnostic or disease codes, to standards related to
transmission, et cetera.

So we ought to at least get some boundary of what \-- of this terrain,
where do we think standards need to be applied or need to exist if
we\'re going to have this vision of a genomically-enabled EHR. There may
be a better terminology for that. So one is a definition, almost an
inventory, definitional landscape.

The second part of that might be we\'ve had pieces of some discussion
about this today, is to get a survey of existing standards efforts. To
what degree are people already working on some of these, how far along
are those, to what degree is there potentially conflicting activity
here, or activity that if, you know, we gave a little bit of assistance
or the federal government could move them further along. But let\'s get
an assessment of who is doing what in addressing these things.

So it\'s not only an assessment of who, but kind of where are they in
their evolution, and might include some commentary about the degree to
which they sort of broadly include the community of interest, or are
perhaps more narrowly focused.

If one had a sort of an inventory and a range of assessment of who is
doing what, and where they were, we might cycle back to some of our
HITSP colleagues, and a number of you have great depth and familiarity
with the standards there used, again, returning to an assessment of
criteria for assessing standards maturity, or for if we want to make
recommendations that a particular SDO be the one to carry certain things
forward, how does one make these choices or selections. And to at least
understand how to frame a series of recommendations.

I think given the mention of HITSP, too, there\'s probably a cycling
back at what point would this Workgroup be done. I mean, what does
\"done\" look like, and at what point does HITSP take over. So we just
ought to be clear about where the boundary really is, because we could
stop 100 yards too short, we could go 100 yards too far.

And perhaps some discussion about things that we might suggest to the
Community of steps that might be taken to encourage the adoption of
those standards or SDOs that we identify here.

Part of all of that is the discussion of use cases that might guide how
we think about standards, where the standards need to be applied. I
suspect that given some of the use cases that were brought up earlier by
John Loonsk is that we may be able to take some and adapt them, that
they may not require a scratch start on our part.

Anyway that\'s an essence of a potential conversation is to lay out a
series of areas, tasks that need to be done, and to use the February
conversation to get \-- Doug and I can work with the ONC staff to put
that together, but to get reactions and comments, addition of tasks,
removal of tasks, make sure that as we go one-by-one all the way down
that everybody is on the same page and has the same understanding about
what might be, what should be done to carry out that task. And again
being mindful of there\'s probably a lot of work we can imagine that
would be important to be done, there may be limits in terms of staff
ability to take on the things we\'d like to have them do, along with
their other demands.

So why don\'t I stop there, and see if that sort of general approach to
our next meeting in February makes sense to folks.

**[\>\> CAROLYN CLANCY:]{.underline}**

John, this is Carolyn Clancy.

**[\>\> JOHN GLASER:]{.underline}**

Uh-huh.

**[\>\> CAROLYN CLANCY:]{.underline}**

Thank you for that very thoughtful presentation. I wanted to inject one
additional thought into this. It seems to me that building on what
you've just presented, and thinking about the presentation to the
Community, it was this October, Greg, I believe where there was a huge
amount of excitement about clinical utility. That if it were possible to
conduct some sort of environmental scan \-- and I\'ll use that term to
be as rough as we might want it to be \-- of diagnostic tests or other
genetic breakthroughs that are likely on some near-term horizon, that
that might give us some strategy for prioritizing our work.

Because it seems to me that when I think about the discussion among
members of the Community, they all kept coming back to Al Berg\'s
presentation about what can we use today.

And it also seems to me from having visited your institution that this
is the kind of thing that some of your internal colleagues are
struggling with right now.

**[\>\> GREGORY DOWNING:]{.underline}**

Carolyn, this is Greg. I think just to amplify on that from an example,
I think just over the last few days the American College of Obstetrics
and Gynecology, for example, has recommended a standardized screening
for common genomic, trisomics actually, as a standard of care. And those
are genetic tests that are practically applied here today. They\'re
simple ones, but they\'re ones for which practice guidelines are now
emerging. There may be others, but those are practical kinds of things
that affect \-- you know, large chunks of primary care, actually.

**[\>\> JOHN GLASER:]{.underline}**

I think that\'s a great comment, Carolyn, and I think we can include as
part of the things as a scan of near-term breakthroughs or advances that
we need to factor into our thinking. That\'s good.

**[\>\> MARC WILLIAMS:]{.underline}**

This is Marc Williams again, I\'ll just again sort of be the broken
record, which is to say that we do have family history available now,
and could be used today. And I think that would be an excellent target
in terms of looking at what we can do in terms of standardization of
that information.

The other question I have is you had referenced use cases, and after our
last meeting I had actually forwarded a couple of brief use cases around
some of these issues. And I didn\'t know if there would be \-- if that
would be useful at all in terms of the next meeting.

**[\>\> GREGORY DOWNING:]{.underline}**

Marc, this is Greg. We did not distribute those to the whole working
group at this point. We can do that, I wasn\'t quite clear on the terms
of what you provided those. But the rest of the group has not seen
those.

**[\>\> MARC WILLIAMS:]{.underline}**

They are generic enough that I don\'t feel there\'s anything that would
be problematic in terms of distributing them. Again, I don\'t know that
those would necessarily be useful in terms of setting a direction, but
at least it gives an idea of sort of a current and future high-level
view of how this might be used.

**[\>\> JOHN GLASER:]{.underline}**

I appreciate that, Mike, and I'd appreciate \-- Marc, and appreciate
your willingness to share that stuff. I think part of what we also have
to do is be sure that we understand what a use case needs to look like.
And to a degree there\'s sort of expectations across all Workgroups
about these things. So \-- but I think the contribution is terrific.

One thing we could do in the February discussion as we sort of lay \--
go over the areas that we need to address, is perhaps distribute the
work across a number of members of this Workgroup to see who would carry
forward specific aspects of that.

Other comments?

**[\>\> MARC WILLIAMS:]{.underline}**

Well, if you\'re looking for volunteers, this is Marc again, I\'d be
happy to take ownership of sort of pulling something together relating
to the current status of representation of family history in the
electronic health record.

**[\>\> JOHN GLASER:]{.underline}**

Okay. Well, we will put you on the list, here, and we will solicit other
volunteers in the month ahead. But I appreciate that.

So this layout and sort of the approach to the February meeting would be
a fairly interactive discussion about the tasks that we have and the
scope and all that other stuff, and I want to make sure that this makes
sense to you all. And if so, we\'ll fire away on that direction.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Thanks, John, very much.

**[\>\>:]{.underline}**

All right.

**[\>\> DOUGLAS HENLEY:]{.underline}**

At this time, Greg, I think we can go most likely to \-- well, let me
see if there are any Workgroup comments. You\'ve provided comments
relative to John\'s presentation, just completed, relative to the
February 21st meeting and kind of a roadmap beyond that. Are there any
other comments from the Workgroup about any of the presentations earlier
in the conference call today?

All right, hearing none, then we\'ll go next to public comment. And for
those representing the public who are on the phone, if you do have
comment please identify yourselves and the entity from whom you
represent, and we look forward to your comments at this time.

**[\>\> MATT McCOY:]{.underline}**

I\'ll jump in quickly and explain how this works. We\'ve got some
members of the public listening along on the phone, we\'ve got others
who are following this, following the audio of the meeting via Webcast.
Those of you who are looking at the Webcast, you\'ll see a slide now on
your screen that has a phone number to dial in. There\'s one
instruction, and that is that you press star 1 once you are connected,
and that will open up your line and let you make a comment.

If a member of the public is already listening over the phone, they need
only press star 1. And we usually wait about one minute just to make
sure that anybody who wants to comment can work their way through the
operators, and after that we\'ll leave up the slide with an e-mail
address for submitting comments that way.

**[\>\> GREGORY DOWNING:]{.underline}**

Matt, while you\'re getting lines open, and to the chairs, I just wanted
to introduce to those in the room here, that Dr. Rob Kolodner, the
director for ONC, is here. And I think we\'ve had a very productive
meeting. John and Doug, you may want to make a few comments, but I
wanted to introduce Rob. And the staff at ONC has been exceptional in
their support of this fledgling personalized healthcare initiative of
the Secretary's, and we\'re very pleased that his efforts here have been
very crucial to getting this off the ground for this working group. So
Rob, you may want to make some comments, or John or Doug to reflect a
little on the meeting today.

**[\>\> ROB KOLODNER:]{.underline}**

I certainly won\'t take very long, I know you\'ve had a long meeting,
I\'m glad to hear that it\'s very productive. With the people involved,
I\'m not surprised about that. And certainly this is, as you know, a key
area, a very important area to the Secretary, and we look forward to
providing any support that you might need to succeed in helping to
provide the guidance that will move the nation forward.

And we really appreciate all the time and effort that you people have
started to involve, to dedicate, and any time that you\'ll be giving in
the future. So thank you very much.

**[\>\> GREGORY DOWNING:]{.underline}**

John, Doug do you have any comments for Rob here at this point?

**[\>\> JOHN GLASER:]{.underline}**

Rob, good to hear you, and glad to have you join this conversation. I
thought it was a good discussion, a lot of ground work was covered, and
the folks that you all have down in D.C. that are helping this effort
out are terrific. So we look forward to working with them more in the
months ahead.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Ron, this is Doug. I echo John's comments exactly.

**[\>\> ROB KOLODNER:]{.underline}**

Excellent. With your fine leadership and with the excellent group that
you have, I know that we (inaudible) things from you as we move forward.

**[\>\> JOHN GLASER:]{.underline}**

Thanks, Rob. So Matt, I think we can go with public comments if there
are any at this point.

**[\>\> MATT McCOY:]{.underline}**

No, it doesn\'t look like we have any today.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Okay, very good. Well, let me sum up the meeting today. First of all, as
John had already done earlier, let me thank those who made presentations
today. I found them very educational. I thought I learned a new
vocabulary in terminology when I started in medical school and
residency. Man, this is starting all over again with this type of
information. But thanks to John Loonsk and Janet Warrington, Betsy
Humphreys, Marc Williams, and Grant Wood, and Jodi Daniel and Amy
McGuire for excellent presentations. And obviously we thank the staff at
ONC for their continued work, and those at HHS. Just a great job.

John has outlined, I think, an excellent roadmap for us at the next
meeting, we\'ll certainly begin to address standards as he outlined
them. And I clearly agree with John Loonsk and his comments earlier
about the need to not only figure out what standards we need to
recommend, to eventually HITSP and to the Community, but how we
implement the darn things once we get them adopted.

Clearly, others on the call today have identified gaps that we need to
look at, be they in standards or coding or nomenclature or terminology.
And Betsy spoke to the need to fully address those along the way, be it
SNOMED or other areas that we need to look into.

Clearly, privacy \-- we\'ll need to address some issues that are unique
to our Workgroup, as Jodi said. And of course other areas that are more
generic may fall over into the other Workgroup. And eventually we\'ll
get around to that important issue and topic of clinical decision
support as we move forward as it related to the broader charge.

So I think we have a lot of interesting goals to achieve over the coming
months. I\'m reminded of the fact that, you know, a good CEO will
surround him or herself with people that are smarter than he or she is.
And certainly as co-chair, I\'m impressed by the intelligence of a lot
of people in this Workgroup that know a whole lot more about this
subject than I do. And I look forward to, as a co-chair with John, in
working with all of you as we move forward.

John, any closing comments that you have?

**[\>\> JOHN GLASER:]{.underline}**

No, well said, Doug.

**[\>\> DOUGLAS HENLEY:]{.underline}**

Thank you, sir. Greg?

**[\>\> GREGORY DOWNING:]{.underline}**

I think that\'s it. I want to thank everyone again, and Happy New Year.
And we\'ll be getting additional information to you, and as we\'ve kind
of got the wheels turned once on this now, we I think can be a bit more
methodical in how we distribute information, get the Websites going,
that sort of thing. So our pledge to you is to make this user-friendly
and make the information and time invested as to be substantial in terms
of return of what the Secretary and others are looking for. So thank you
all, and we look forward to your continued contributions. And send us
any comments and thoughts you have after the meeting today. Thank you.

**[\>\>:]{.underline}**

Thanks, everyone.

**[\>\>:]{.underline}**

Thank you, everyone.