Summary of Meeting
February 23, 2000
Arlington, Virginia

1. Introductions and Charge to Group
   
   The meeting was opened with introductions by attendees (see attached list), followed by Drs. Baker and Khoury reviewing the proposed agenda and purpose of the meeting
    

2. Brief review of informal discussions that took place during January 25-26 snowstorm.
    
   Drs. Baker, Popovich, Charache, and Howell who were present at the Baltimore "snow-gathering" - meeting reviewed some of the informal discussion that took place. Among the issues informally discussed were orphan diseases, informed consent, stages of testing, data collection, definitions of genetic testing, and a public/private partnership.
     

3. Review of Clinical Laboratory Improvement Advisory Committee (CLIAC) Recommendations in Proposed CLIA Notice of Intent.
    
   The proposed CLIA Notice of Intent was distributed, but not reviewed.
    

4. Discussion of how a Public/Private Consortium might work to address genetic testing issues.
   
   Dr. Baker moderated a discussion of several issues related to the structure and function of the group. It was decided to call the group a Forum to avoid confusion with existing and proposed consortia, including the public/private consortia on data collection for cystic fibrosis and hemochromatosis . The group determined that addressing issues in some sort of hierarchy would be appropriate and that formalizing the current informal process of dialogue about issues that takes place among groups would be useful. The initial issue to be addressed was a review of the purpose and value of such a group. The members, after discussion, concluded that the purpose of the group was to assure that laboratory issues related to the quality of genetic testing are appropriately addressed. It was determined that indeed such a group would serve an important purpose as a Forum to help address:
     

   • Understanding the type and level of contributions of professional organizations and others as adjunctive to existing laboratory regulatory processes. There was agreement that this effort would require staff support and that clarification of mission would be important.
      

   • Identification/clarification of specific issues (e.g., how would the Forum contribute to assessment of the quality of genetic testing and the stages through which an assay moves - research, clinical trials, broader use, educational/information sharing, etc.
      

   • Definition of relationships with other committees/advisory groups
        

   • The Forum could provide support when requested by either the SACGT or CLIAC. The group could be proactive with CLIA to help identify and/or address genetic issues around laboratory testing. The Forum, as well as other interested groups, could also bring issues of importance to the attention of SACGT and CLIAC. Other groups with which this Forum would interact include the Genetics Advisory Panel in FDA.
      
     It was understood that the activities of the forum required resources and that members of the forum would be required to address conflict of interest issues. This forum would also provide practical suggestions about laboratory implementation of tests.
      
     The group agreed that the focus should be on laboratory testing issues even though there may be a laboratory component associated with some broader. The forum would begin its tasks by 1) assessing the current regulatory paradigm; 2) identifying laboratory testing gaps; 3) addressing possible solutions for those gaps; and 4) assisting with practical implementation as indicated.
     
     Dr. Gutman commented that this forum would be valuable from FDA's standpoint because although industry input on laboratory testing was readily supplied, it was often difficult to obtain input from professional laboratory organizations simply because it was often difficult to identify the appropriate individuals with whom to interact in a timely fashion.

   • Scope and Support Issues
     
     Membership - Membership of a core group of approximately 20 individuals would be comprised of representatives of organizations whose members were themselves providers or significant users of genetic laboratory testing services and the federal agencies dealing with genetics (e.g., CDC, FDA, HCFA, NIH, HRSA, NIST). If issues came up that required broader input, other professional organizations or experts and representatives of the public would be called upon to participate. 
     
     Staffing - In order for the Forum to be effective, the attendees agreed that someone would need to manage day-to-day affairs for the group. Staffing to meet this need was accepted as a CDC responsibility.
     
     
   • Discussion of a Genetics Regulatory Paradigm
     
     The regulatory agencies have been discussing possible paradigms that may be models for examination by this forum. For example a tiered approach for addressing new genetic tests was discussed at the CLIAC meeting last September and a more recent "phasing in" approach was discussed recently among the agencies. 
     
     Dr. Gutman reviewed a new concept that was based upon consideration of whether the test was a predictive presymptomatic test or symptomatic. In the former case, if the test was the major or sole determinant and the disease was high risk (e.g., breast cancer and BRAC1) then this test would fall into a "high scrutiny" category. This category would be most appropriate for most stringent oversight using FDA authority. Work could be done by FDA, could be contracted out, or could be granted deemed status and performed by other government agencies or the group/consortium now being considered. 
     
     If the disease were low risk, but the predictive test was still the sole determinant, then it would fall into a category of "low scrutiny". Such tests might be appropriate for analytical characterization under existing CLIA oversight, or could be addressed in the way described above. 
     
     If the test was performed on a patient with symptoms of a particular genetic disorder and the test was the major determinant of the presence of disease which was high risk, then it would fall into a third category of "moderate scrutiny". 
     
     
   • Summary
     
     At the conclusion of the meeting it was determined that:
   
   

   • A Forum could make important contributions to the process of quality laboratory testing and the implementation of new tests.
       

   • The Forum would be staffed by CDC.
       

   • The next meeting of the Forum would address various paradigms that have been presented. Appropriate modifications will be discussed.
      

   • The next Forum meeting was tentatively scheduled for April/May 2000.

   
   
   Added Note: 
   
   The next meeting of the Forum has now been scheduled. It will occur at the Holiday Inn, 3377 Peachtree Road NE, Atlanta, GA (404-264-1111) on Friday, June 2, from 8:30 am - 5 pm.

   ---

   CDC Genetic Forum February 23, 2000
    - Laboratory Workgroup Participant Roster:

   ALTMILLER, Dale H., Ph.D.
   Department of Pathology
   BMSB 451
   940 S.L. Young Blvd
   Oklahoma City, Oklahoma 73104 

   BAKER, Edward L., M.D.
   Dir., Public Health Practice Program Office
   Centers for Disease Control and Prevention
   4770 Buford Highway, N.E., Mailstop K36
   Atlanta, Georgia 30341 

   BOONE, Joe., Ph.D.
   Assistant Director for Science
   Division of Laboratory Systems
   Public Health Practice Program Office
   Centers for Disease Control and Prevention
   4770 Buford Highway, N.E., MS G25
   Atlanta, Georgia 30341 

   CARR, Sarah
   Executive Secretary
   Secretary's Advisory Committee on
   Genetic Testing
   Office of Recombinant DNA Activities
   Office of Science Policy
   National Institutes of Health, MSC 7010
   6000 Executive Boulevard, Suite 302
   Bethesda, Maryland 20894

   CHARACHE, Patricia, M.D.
   Professor of Pathology Medicine
   Oncology
   Johns Hopkins Medical Institutions
   Nelson B112, 600 North Wolfe Street
   Baltimore, Maryland 21287
    
   GUTMAN, Steven I., M.D.
   Director
   Division of Clinical Laboratory Devices
   Office of Device Evaluation
   Food and Drug Administration
   2098 Gaither Road, HFZ-440, Room 316
   Rockville, Maryland 20857
    
   GUTTMACHER, Alan E., M.D.
   Senior Clinical Advisor to the Director
   National Human Genome Research Institute
   National Institutes of Health
   31 Center Drive, Building 31, Room 4B09
   Bethesda, Maryland 20892-2152
    
   HINKEL, Cecilia
   Division of Laboratories and Acute Care
   Center for Medicaid and State Operations
   Health Care Financing Administration
   7500 Security Boulevard
   Baltimore, Maryland 21244
    
   HOWELL, R. Rodney, M.D.
   Professor and Chairman
   Department of Pediatrics
   University of Miami School of Medicine
   Miami, Florida 33101
    
   HOWERTON, Devery, Ph.D.
   Chief, Laboratory Practice Standards Branch
   Division of Laboratory Systems
   Public Health Practice Program Office
   Centers for Disease Control and Prevention
   4770 Buford Highway, N.E., MS F11
   Atlanta, Georgia 30341
    
   HUDSON, Kathy
   Director of Policy and Public Affairs
   National Human Genome Research Institute
   National Institutes of Health
   31 Center Drive, Building 31, Room 4B09
   Bethesda, Maryland 20892-2152
    
   INHORN, Stanley L., M.D.
   State Laboratory of Hygiene
   William D. Stovall Building
   465 Henry Mall
   Madison, Wisconsin 53706
    
   KHOURY, Muin J., M.D.
   Director
   Office of Genetics and Disease Prevention
   Centers for Disease Control and Prevention
   4770 Buford Highway, N.E., MS K28
   Atlanta, Georgia 30341
    
   LLOYD-PURYEAR, Michele, M.D., Ph.D.
   Health Resources and Services Administration
   5600 Fishers Lane
   Rockville, Maryland 20857
    
   LUBIN, Ira M., Ph.D.
   Geneticist
   Division of Laboratory Systems
   Public Health Practice Program Office
   Centers for Disease Control and Prevention
   4770 Buford Highway, N.E., MS G23
   Atlanta, Georgia 30341
    
   MALONE, Kevin M.
   Senior Attorney
   Office of the General Council
   Centers for Disease Control and Prevention
   1600 Clifton Road, N.E., Mailstop D-53
   Atlanta, Georgia 30333
    
   MARTIN, Robert, Dr.P.H.
   Director, Division of Laboratory Systems
   Public Health Practice Program Office
   Centers for Disease Control and Prevention
   4770 Buford Highway, N.E., MS G25
   Atlanta, Georgia 30341
   NOLL, Walter W., M.D.
   Department of Pathology
   Dartmouth-Hitchcock Medical Center
   One Medical Center
   Lebanon, New Hampshire 03756
    
   OONNELL, Catherine D., Ph.D.
   Chairwoman, Research Scientists
   NIST Biotechnology Division
   100 Bureau Drive, MS 8311
   Gaithersburg, Maryland 20899-8311
    
   O'DONOGHUE, Kathleen
   Policy Analyst
   College of American Pathologists
   1350 I Street, N.W.
   Washington, D.C. 20005
    
   POPOVICH, Brad, Ph.D.
   Oregon Health Sciences University
   707 S.W. Gaines Road, CDRC 2254
   Portland, Oregon, 97201
    
   SOBEL, MARK, M.D., Ph.D.
   Molecular Pathology Section
   National Cancer Institute
   10 Center Dr. MSC 1500
   Bethesda, MD 20892-1500
    
   STOMBLER, Robin E.
   Director, Washington Office
   American Society of Clinical Pathologists
   1225 New York Avenue, N.W., Suite 250
   Washington, D.C. 20005
    
   TUBBS, Raymond, D.O.
   Chairman, Department of Clinical Pathology
   Cleveland Clinic Foundation
   Cleveland, Ohio
    
   UHLMANN, Wendy, M.S.
   President, Nat'l. Society of Genetic Counselors
   University of Michigan Medical Center
   4301 MSRB #3, Box 0638
   Ann Arbor, Michigan 48109-0638
   WANAMAKER, Genny
   Division of Laboratories and Acute Care
   Center for Medicaid and State Operations
   Health Care Financing Administration
   7500 Security Boulevard
   Baltimore, Maryland 21244
    
   WATSON, Mike, Ph.D.
   Washington University School of Medicine
   One Children's Place
   St. Louis, Missouri 63110
    
   WHALEN, Rhonda, M.S.
   Health Scientist
   Division of Laboratory Systems
   Public Health Practice Program Office
   4770 Buford Highway, N.E., MS F11
   Atlanta, Georgia 30341
    
   WILLEY, Ann, Ph.D.
   Director, Laboratory Policy Development
   Wadsworth Ctr. for Laboratories & Research
   New York State Department of Health
   Empire State Plaza, P.O. Box 509
   Albany, New York 12201
    
   WILLIAMS, Laurina O., Ph.D.
   Health Scientist
   Division of Laboratory Systems
   Public Health Practice Program Office
   Centers for Disease Control and Prevention
   4770 Buford Highway, N.E., MS G23
   Atlanta, Georgia 30341
    
   WINN-DEEN, Emily S., Ph.D.
   Manager SNP Product R&D
   Celera Genomics
   45 West Gude Drive
   Rockville, Maryland 20857
    
   YOST, Judith, M.A., M.T. (ASCP)
   Director,
   Division of Laboratories and Acute Care
   Center for Medicaid and State Operations
   Health Care Financing Administration
   7500 Security Boulevard
   Baltimore, Maryland 21244