Personalized Healthcare Workgroup: August 2007 Meeting Summary

American Health Information Community

Personalized Healthcare Workgroup

Summary of the Seventh Web Conference of this Workgroup

Friday, August 17, 2007

PURPOSE OF MEETING

The meeting was convened to review the results of the recommendations recently submitted to the AHIC and to receive additional testimony relevant to the charge of the Workgroup, including two new topics for consideration newborn genetic screening and pharmacogenomics. The meeting was called to order by the Co-chairs at 2:03 p.m. Meeting materials and documents referenced below are available at http://www.hhs.gov/healthit/ahic/healthcare/phc_archive.html.

KEY TOPICS

1. Approval of June 7, 2007, Meeting Summary

The summary of the June 7 meeting was approved without corrections, additions, or objection.

2. Recap of July 31, 2007, AHIC Meeting, Recommendations Presentation

Co-chair Doug Henley reported that the Personalized Healthcare (PHC) Workgroup’s recommendations were very well received by AHIC. The Community found them to be aggressive and on target, and agreed that implementation of the recommendations will improve healthcare and outcomes. All of the recommendations including the use case were approved.

3. Implementation Plan for the Recommendations

Office of the National Coordinator (ONC) staff Greg Downing and Kristin Brinner reviewed implementation plans, including the status of use case development. Three use cases were developed in 2006. Four will be completed in 2007. Another six are scheduled for 2008, including the use case on genetic lab data and family medical history recommended by the PHC Workgroup. A long list of possible cases for 2009 is being generated. The timeline and process for use case development was reviewed. The entire process from prototype and detailed use case development through two public comment periods to the final use case is estimated to take 22 weeks. The prototype describes the stakeholders and the various perspectives that will be included in the detailed use case. Dr. Brinner used the medication management use case as an example to illustrate the process. An informational conference call has been scheduled for September 6. John Loonsk, ONC, will review the use case development process and timeline.

A new workgroup will be convened (Recommendation 2.1) to identify what types of data and information are generated from genetic or genomic tests (GTs) and to identify standard metrics, terminology, language, and processes. This work is expected to inform the extension to the Harmonized Use Case for EHRs (Laboratory Results Reporting) developed for GTs. The GT Subgroup will be involved in evaluating the use case. Stakeholders will be convened as this process continues.

The National Institutes of Health (NIH) is responsible for Recommendation 2.2. Mary Beth Bigley of the Office of the Surgeon General and Greg Feero of the National Human Genome Research Institute (NHGRI) will be responsible for convening the group referenced in Recommendation 3.0, which is to develop a core minimum data set and common data definitions for primary care collection of family health history information. Over the past few months a group of stakeholders has been convened. Participants have been asked to submit examples from their organizations of the content of and process for obtaining core family history data. The group is scheduled to meet via conference call on August 22, followed by a meeting in September. The documents obtained will help in developing the use case and later the standards identification.

ONC staff are working with various federal agencies the Department of Veterans Affairs (VA), the Indian Health Service (IHS) and other Department of Health and Human Services (HHS) agencies, and the Department of Defense (DoD) to carry out recommendations 3.1 and 3.2.

Action Item #1: The Co-chairs asked staff to prepare and disseminate a schedule of the many upcoming calls, meetings, use case comment periods, and other events of interest to the Workgroup members.

4. Update on Confidentiality, Privacy, and Security (CPS) Subgroup Activities

CPS Subgroup Co-chairs Amy McGuire and Becky Fisher reported that they had had several calls with the CPS subgroup and are preparing a conceptual framework document to inform the Workgroup on ways to think about CPS as it pertains to the inclusion of genetic information in the electronic health record (EHR). The framework will address three major issues:

(1) Genetic data exceptionalism, including the pros and cons of special protection for these data as they are stored and used in the EHR, and whether legislation and special IT procedures are required. The Subgroup is considering whether to be descriptive or proscriptive. Joel Kupersmith reported that the VA will be convening focus groups, which will among other things attempt to obtain veterans’ opinions on this very issue, that is, how they view this type of personal information. He offered to make the findings available to the Workgroup. The focus groups will be convened during the period of September to November.

Discussion resulted in the suggestion that the Subgroup’s document should include definitions, and recognize the distinction between the patient’s disclosure of his or her own data versus those of a relative. The difficulty of defining genetic data and drawing boundaries between genetic and other medical data was acknowledged as one of the major issues in CPS.

Andrea Ferreira-Gonzalez recommended reading the article on that topic in a recent issue of the American Journal of Medicine Genetics. She also pointed out the need for the Subgroup to coordinate its efforts with the Secretary’s Advisory Committee on Genetics, Health, and Society Oversight Taskforce, which is charged with determining whether genetic testing differs from other testing.

(2) Integration of genetic information into the EHR and the ways and contexts in which genomic data are generated. Genetic data are generated in the research, clinical, private industry, and commercial contexts. The type of information may vary across these contexts. Data from the non-clinical contexts may not be appropriate for inclusion in the EHR.

(3) The public education aspect and the identification of the educational needs of the various sectors.

5. Planning for September 17, Clinical Decision Support (CDS) Meeting

Co-chair Glaser reported on plans for the all-day, in-person meeting scheduled for September 17. He has been working with the CDS Ad-Hoc Workgroup. Various presentations have been scheduled, including several previously presented to AHIC. Jerry Osheroff and Jonathan Teich, who were commissioned by ONC to work on a national roadmap for advancing the use and effectiveness of decision support, will present their work and facilitate the discussion. The purpose of the meeting is to educate participants about the availability of CDS systems and the work commissioned by the ONC in order to provide the background for addressing CDS within PHC. Panel presentations will focus on CDS Tools Services and Systems, and Evidence Development for CDS. If time permits, the Workgroup will begin to consider CDS within the context of PHC.

6. Information Exchange for Newborn Genetic Tests

During its visioning exercise in March, the Workgroup identified newborn screening as a potential actionable topic. Marie Mann, MD, MPH, from the HHS Health Resources and Service Administration, provided background on the national newborn screening program, which includes hearing screening. The number of conditions screened varies by State and is mandated by State law. Newborn screening is a system, which includes public and provider education, the screening itself, follow up diagnosis and treatment, case management and program evaluation. Follow up to positive screens and management of the chronic conditions requires considerable coordination, including sharing of information with multiple partners in a short timeframe. For a number of conditions, there is a short timeframe for intervention and treatment. Linkage to CDS is necessary. Linking screening data to birth certificates is necessary in ensuring that screening is universal. Approximately 25 percent of newborns in the U.S. undergo a second screen. Linkage of results across time, newborn name changes, and changes in providers can be challenging.

Mike Watson, PhD, FACMG, American College of Medical Genetics, described the work of the National Coordinating Center for Regional Genetics and the Newborn Screening Collaboratives. Newborn screening is the largest program of genetic testing in the U.S. Twenty-eight of 29 conditions that are targets of screening are genetic diseases. The differential diagnoses of the markers for these 28 conditions involve at least 140 gene loci. Many states have expanded the number of mandatory screenings.

With a few exceptions (e.g., sickle cell), these are very rare conditions and pediatricians as well as specialists need CDS in order to treat and manage these patients. The multiple participants in screening and follow through need interoperable electronic communication systems between primary care providers, specialist providers in private and institutional environments, and State public health programs. Standardized laboratory and clinical languages are needed for data compatibility.

The National Coordinating Center for Regional Genetics has developed CDS action sheets and diagnostic algorithms for clinicians. They are compatible with electronic medical records (EMRs), incorporating pop-ups for education. CDS and popups serve different needs for users at various levels of expertise and knowledge. A tool that allows someone to speak in an informed manner with patients and other providers is not necessarily the same CDS tool that the expert specialist will use to go through the diagnostic workup of the infant. The action sheets are considered as practice guidelines and are reviewed and revised every three years. The Center is also working on support for the continuation of newborn screening when disaster occurs.

The NIH National Institute of Child Health and Human Development (NICHD) is developing a national newborn screening translational research network founded on data collection and using resources available from the States. NICHD is interested in the longer term outcome of newborn screening. This will involve the improvement of long-term tracking and registries, data collection, repositories for research, common case definitions across States, and LOINC codes.

During the discussion of Dr. Watson’s presentation, it was mentioned that Health Level Seven has developed a standard process for putting documents into a form that can be imported into the EHR and moved between electronic health systems. Many of these documents are suitable for incorporating into the EMR. Members agreed on the need for testing labs to report out the screening results in numbers not just a positive or negative result. Some are doing so, and several States have developed their own systems. Members agreed that the AHIC and the Secretary could influence the laboratories to change reporting formats. Several of the newborn screening issues are similar to those in the use cases. Some members of the Population Health Workgroup are also interested in these issues.

Action Item #2: Staff will inquire if any Workgroup members are interested in working with Drs. Watson and Mann to consider recommendations on the role of genetic screening data in PHC, and arrange conference calls as necessary.

7. Interoperability between Clinical Research and Practice for Pharmacogenomics

The Co-chairs introduced the topic by noting that the Workgroup should begin thinking about how to enable interoperability of the research component of this area of medicine and linking it to EHRs. Federico Goodsaid, PhD, described the HHS Food and Drug Administration’s (FDA) voluntary genomics data submissions (VGDS) program. The VGDS, which has been underway for 3 years and has received 40 submissions, has been useful in identifying how best to interact with industry to facilitate the electronic exchange of these data. Standardized reporting of pharmacogenomic test information could be used to better communicate the clinical validity and utility of pharmacogenomic tests. Interoperable exchange of information between the research and clinical practice enterprises also could be used to enable the translation of pharmacogenomic tests into more routine clinical care. Pharmacogenomic tests could be used to aid in dosing, avoidance of adverse events, guiding treatment decisions, and aiding in appropriate intervention selection. Successful integration of standards into genomic databases will facilitate interoperability and flexibility for enabling clinical practice.

Pharmacogenomic biomarkers include both SNPs and differentially expressed genes. VGDS biomarkers are exploratory biomarkers and are not yet ready for inclusion in patient records. Dr. Goodsaid emphasized that platforms used for research or exploratory purposes have constraints and technical uses that may not be related to platforms that will be suitable for diagnostic applications. Therefore, finding a way to have these platforms talk to each other is not a priority. The FDA is developing a Companion Guidance to the Pharmacogenomic Guidance. It is expected to accelerate the application of gene expression data in drug development and regulatory review through consensus and discussion. A genomic biomarker result should become part of the patient record only when we know what is being measured and why. The Table of Valid Genomic Biomarkers in the Context of Approved Drug Labels is a first step in that direction.

During discussion members noted that a Secretary's Advisory Committee is currently finalizing a report on pharmacogenomics. ONC staff suggested that additional background work on interoperability and harmonizing be completed prior to convening a subgroup around the topic.

Action Item #3: Staff will do the background work to determine the various groups and committees working in this area and attempt to harmonize efforts. Staff will make inquires to determine if any Workgroup members are interested in developing approaches to this topic.

8. Next Steps

The next meeting of the Workgroup is scheduled for September 17, 2007. This will be an all-day, in-person meeting in Washington, DC. The meeting will focus on CDS. Staff will continue to work with the CPS Subgroup to prepare the document described above.

9. Public Comments

There were no public comments.

10. Adjournment

Meeting adjourned at 4:12 p.m.

SUMMARY OF ACTION ITEMS

Action Item #1: The Co-chairs asked staff to prepare and disseminate a schedule of the many upcoming calls, meetings, use case comment periods and other events of interest to the Workgroup.

MEETING MATERIALS

Agenda

Personalized Healthcare Recommendations

Use Case Development Timeline

Newborn Genetic Tests Background

Michael S. Watson - Newborn Screening and Genetic Testing

Pharmacogenomics Background

Federico Goodsaid Pharmacogenomics and EHR

Personalized Healthcare Workgroup Members and Designees

Participating in the Web Conference


Co-chairs
John Glaser	Partners HealthCare
Douglas Henley	American Academy of Family Physicians

Members
Beryl Crossley	American Clinical Laboratory Association, Quest
Paul Cusenza	23andMe
Andrea Ferreira-Gonzalez	Association for Molecular Pathology
Becky Fisher	Patient Advocate
Emory Fry	Department of Defense
Alan Guttmacher	HHS/National Institutes of Health (NIH)/National Human Genome Research Institute (NHGRI)
Betsy Humphreys	HHS/NIH/National Library of Medicine
Joel Kupersmith	Department of Veterans Affairs
Stephen Matteson	Pfizer Global Research and Development
Amy McGuire	Baylor College of Medicine
Mark Rothstein	University of Louisville
Steve Teutsch	Merck & Co., Inc.
Janet Warrington	Affymetrix
Andrew Wiesenthal	Permanente Foundation for Clinical Information Support
Marc Williams	Intermountain Healthcare

Office of the National Coordinator for Health Information Technology Staff
Kristin Brinner
Gregory Downing
Alan Zuckerman

Senior Advisors
Mary Beth Bigley	Office of the Surgeon General
Marie Mann (for Michele Lloyd-Puryear)	HHS/Health Resources and Service Administration (HRSA)
Lisa Rovin	HHS/Food and Drug Administration

Others
Anthony Achampong (for Cheryl Austein-Casnoff)	HHS/HRSA
Cathy Fomous	HHS/NIH/Office of Biotechnology Activities
Catherine Kohler	HHS/Centers for Disease Control
Chris Lamer	HHS/Indian Health Service
Joyce Mitchell	University of Utah
Dina Paltoo	HHS/NIH
David Parker	HHS/Indian Health Service
Philip Pochon	Clinical Data Interchange Standards Consortium (CDISC)

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