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National Advisory Council for Human Genome Research
Summary of Meeting

Chevy Chase, Md.

September 16-17, 1996

The National Advisory Council for Human Genome Research (NACHGR) was convened for its eighteenth meeting at 8:30 a.m. on September 16, 1996, at the Holiday Inn, Chevy Chase, Md. Dr. Francis Collins, director of the National Center for Human Genome Research, called the meeting to order.

The meeting was open to the public from 8:30 a.m. to 2:00 p.m. on September 16. In accordance with the provisions of Public Law 92-463, the meeting was closed to the public from 2:00 p.m. on September 16 to adjournment on September 17 for the review, discussion and evaluation of grant applications.

Council members present:

Dr. R. Daniel Camerini-Otero
Dr. Ellen W. Clayton
Dr. David R. Cox*
Dr. Troy Duster
Dr. Leroy E. Hood
Dr. Richard Mathies*
Dr. Rodney Rothstein
Dr. Diane C. Smith
Dr. M. Anne Spence
Dr. David Valle
Dr. Barbara Wold

Council member absent:

Dr. Lennette J. Benjamin
Dr. Shirley Tilghman

* Via teleconference

Liaisons from Professional Societies:

Dr. Beverly Emanuel, American Society of Human Genetics
Ms. Rosalie Goldberg, National Society of Genetic Counselors
Dr. Kurt Hirschhorn, American College of Medical Genetics

Staff from the National Center for Human Genome Research:

Jane Ades, OPC
David Benton, DER
Kate Berg, DIR
David Boyer, DER
Joy Boyer, DER
Erin Burgess, OAM
Jean Cahill, DER
Francis Collins, OD
Linda Engel, DER
Patti Fakunding, OD
Elise Feingold, DER
Leslie Fink, OPC
Barbara Fuller, OPC
Mary Glynn, OAM
Bettie Graham, DER
Mark Guyer, DER
Linda Hall, DER
Kathy Hudson, OPC
Elke Jordan, OD
Jean McKay, OPC
Carol Martin, OIS
Tara Mowery, DER
Kenji Nakamura, DER
Jane Peterson, DER
Rudy Pozzatti, DER
Jeffery Schloss, DER
Megan Sexauer, OPC
Elizabeth Thomson, DER
James Vennetti, OAM
Monika Yakovich, DER
Sally York, DER

Others present for all or a portion of the meeting:

Arthur Allen, freelance journalist
Peter Ballard, The Blue Sheet
Mark Boguski, NCBI, NLM
Robert Boyd, Knight-Ridder
Sarah Carr, NIH
Cheryl Corsaro, DRG
Mary Davidson, Alliance of Genetic Support Groups
Dan Drell, Department of Energy
Machi Dilworth, National Science Foundation
Pat Kobor, American Psychological Association
David Lipman, NCBI, NLM
Elliot Marshall, Science
Nancy Moy, SRI International
Kathy O'Donoghue, College of American Pathologists
James Ostell, NCBI, NLM
Ari Patrinos, Department of Energy
Sara Radcliffe, SmithKline Beecham
Steven Rose, Department of Energy
Jay Snoddy, Department of Energy
Marvin Stodolsky, Department of Energy
Susan Wallace, HUGO
Joan Weiss, Alliance of Genetic Support Groups

Introduction of New Council Members, Ad Hoc Members, and Liaisons, Visitors and New Staff

Dr. Jordan introduced new staff: Dr. Eric Meslin and Ms. Joy Boyer, ELSI Program, Division of Extramural Research; Ms. Monika Yakovich, Grants Management, Office of Administrative Management; Mr. Mathew Thomas, Office of Genome Ethics, Division of Intramural Research; Mr. Jeff Witherly, Office of Science Outreach and Education, Division of Intramural Research; and Ms. Patti Fakunding, secretary to Dr. Collins. Dr. Jordan noted that Ms. Tara Mowery has replaced Ms. Jane Paull as the council coordinator. Dr. Carol Dahl and Dr. Robert Strausberg have joined the National Cancer Institute (NCI) as advisors to the NCI director on technology development, and Ms. Linda Engel has accepted the position of special assistant to the director of the National Institutes of Health (NIH) Division of Research Grants.

Dr. Jordan introduced the liaisons to the council from the professional societies: Dr. Kurt Hirschhorn, representing the American College of Medical Genetics; Dr. Beverly Emanuel, representing the American Society of Human Genetics; and Ms. Rosalie Goldberg, representing the National Society of Genetic Counselors. Dr. James Ostell, the chief of the Information and Engineering Branch in the National Center for Biotechnology Information (NCBI), National Library of Medicine (NLM), was the invited speaker.

Approval of Minutes

The minutes from the May 20-21, 1996 council meeting were approved as submitted.

Future Meeting Dates

February 20-21, 1997, May 19-20, 1997, and September 14-15, 1997 were approved for future council meetings.

Director's Report

Recognition of Dr. Norman Davidson

On June 10, Dr. Norman Davidson, a former council member, was awarded the U.S. National Medal of Science and Technology, the nation's highest research and development award. Dr. Davidson, a biochemist at the California Institute of Technology (CIT), was recognized for his work on genomic structure.

Dr. Edward Birkenmeier Obituary

Dr. Edward Birkenmeier, a physician and senior staff scientist at The Jackson Laboratory, in Bar Harbor, Maine, passed away in August. Dr. Birkenmeier was a well-known and well-respected geneticist who pioneered the use of animal models, particularly the mouse, in developing gene therapy vectors for the treatment of human genetic disease. A former NCHGR grantee, he enthusiastically shared his love for medical genetics with people of all ages.

New Director of the National Institute of General Medical Sciences

On August 22, NIH Director Dr. Harold Varmus announced the appointment of Dr. Marvin Cassman as the new director of the National Institute of General Medical Sciences (NIGMS). Dr. Varmus stated that "Dr. Cassman is an outstanding scientist and scientific program manager whose skills are ideally suited for this position at the helm of NIH's basic research institute. His expertise in such areas as structural biology, biotechnology, science policy and technology transfer will be especially valuable at NIGMS and at NIH as a whole." Dr. Cassman has been the deputy director of NIGMS since 1989 and the acting director since 1993.

New Director of the Division of Research Grants

Dr. Elvera Ehrenfeld, from the University of California-Irvine, has been named the new director of the NIH Division of Research Grants. Dr. Ehrenfeld is a professor of molecular biology and biochemistry, and the dean of the School of Biological Sciences. From now until January 1, 1997, when she comes to NIH on a full-time basis, Dr. Ehrenfeld will spend about 25 percent of her time at DRG and 75 percent concluding research projects at UC-Irvine.

Leadership Forum for NIH Institutes, Centers, and Divisions (ICD)

On September 3 and 4, Dr. Varmus held the annual ICD leadership forum. The topics discussed at this year's forum included priority-setting, interactions with the private sector, and information technology at the NIH.

Division of Intramural Research Retreat

In conjunction with a meeting of the Board of Scientific Counselors, the NCHGR Division of Intramural Research (DIR) held its annual retreat at Airlie House, in Warrenton, Va., on September 10-12. Intramural scientists presented their work in poster sessions and seminars. These scientific retreats provide an opportunity for NCHGR staff to share information about ongoing and planned research, and to form productive collaborations for future projects.

Atm-Deficient Mouse Model

NCHGR Division of Intramural Research (DIR) scientist Anthony Wynshaw-Boris and collaborators recently reported the development of a laboratory mouse with virtually all the characteristics of people with ataxia-telangiectasia (A-T), including neurologic problems, cancers of the immune system, slow growth, radiation sensitivity and abnormal development of sperm and eggs. Although scientists have gleaned clues about the function of the human A-T gene from similar genes in single-celled yeast, the new mouse model provides the first opportunity to study the disease in a controlled way in multi-celled animals. The development of a mouse model only a year after the discovery of the human A-T gene highlights how rapidly genetics research is moving to translate gene discoveries into knowledge about how genes work and how changes in them cause disease. This work was published in the July 12 issue of Cell.

Spectral Karyotyping

NCHGR DIR scientist Thomas Ried and collaborators recently developed a new technique, called spectral karyotyping, that identifies all 23 pairs of human chromosomes by a different color. This method allows scientists to more easily examine the entire group of chromosomes for changes that could lead to disease, such as insertions, deletions, or rearrangements, not visible with conventional karyotyping. This work was published in the July 16 issue of Science.

NCHGR-DOE Guidance on Human Subject Issues in Large-Scale DNA Sequencing

In recognition of the need to minimize the risks to donors of DNA for large-scale genomic sequencing, the NCHGR and the DOE, in consultation with many advisors, including this council, developed guidance to address: benefits and risks of genomic DNA sequencing; privacy and confidentiality; recruitment of DNA donors as sources for library construction; informed consent; IRB approval; and use of existing libraries. The guidance is based on the premise that protection can best be achieved by a combination of approaches: ensuring the first complete human DNA sequence is derived from multiple donors; providing donors with the opportunity to make an informed decision about whether to contribute their DNA to this project; and taking effective steps to ensure the privacy and confidentiality of donors. It is expected that the guidance will be used immediately by investigators, IRBs and others interested in these issues. It is being widely distributed and is available on both the NCHGR and the DOE World Wide Web sites.

The National Coalition for Health Professional Education in Genetics

As reported at the May Council meeting, the NCHGR, in partnership with the American Medical Association (AMA) and the American Nurses Association (ANA), is spearheading the formation of a National Coalition for Health Professional Education in Genetics. The mission of the coalition is to ensure that the nation's health care providers have the knowledge, skills, and resources to: integrate new genetic knowledge and technologies into the prevention, diagnosis, and management of disease; provide high-quality services for patients, families and communities affected by genetic-related conditions; and understand and address the ethical, legal and social implications of advancing genetic knowledge and technologies. Both the Steering Committee and the full coalition will be led by health care professional organizations and will include representatives from consumer and voluntary groups, government agencies, industry, managed care organizations, and genetics professional organizations. The first meeting of the Steering Committee was held July 23-24, at the NIH. The purpose of this meeting was to discuss the formation of the Coalition, its organization, and priorities. The first meeting of the prospective general membership of the Coalition is scheduled for March 1997. Colleen Scanlon, from the ANA, and Michael Scotti, from the AMA, will act as interim co-chairs until the March meeting.

Task Force on Genetic Testing

The Task Force on Genetic Testing (TFGT) is now developing recommendations for implementing the Interim Principles, which were distributed to the council in early April. The Task Force will be meeting September 23-24 in Baltimore and again on December 2-3 to complete their recommendations. It is expected that the draft recommendations will be made available for public comment in January 1997. Following consideration and incorporation, as appropriate, of public comments, the TFGT will hold its last meeting in March 1997 to finalize their recommendations. Their report will then be submitted to the council and the DOE Health and Environmental Research Advisory Committee through the ELSI Working Group. Following council's action on the report, the NIH will transmit the recommendations from the TFGT to the Secretary of HHS. Secretary Shalala has been kept apprised of the work of the TFGT and was briefed on June 12 by Pat Barr, a member of the TFGT, and Mike Watson, vice chair of the TFGT. It is expected that the Secretary and senior HHS officials will move quickly to consider these recommendations.

National Bioethics Advisory Commission

On July 19, the President announced the members of the National Bioethics Advisory Commission (NBAC), which was created nearly a year ago to address the protection of the rights and welfare of human research subjects and the management and use of genetic information. The chairman is Harold Shapiro, president of Princeton University. Among the members who are known to the genetics community are: David Cox, a member of this council and the ELSI Working Group; Tom Murray, former ELSI Working Group member and ELSI grantee; Steve Holtzman, chief budget officer at Millennium Pharmaceuticals, Inc.; Alex Capron and Alta Charo, both of whom have been ELSI grantees and reviewers; and James Childress, who has also served on ELSI review committees. Dr. Varmus and Dr. Collins have met with Dr. Shapiro and Dr. Collins was invited to speak at the first meeting of the NBAC on October 4. The NCHGR is looking forward to working closely with the NBAC as it begins its deliberations.

Cystic Fibrosis Consensus Conference

A consensus development conference, "Genetic Testing: Cystic Fibrosis (CF) as a Case Study," will be held April 14-16, 1997, at the NIH Natcher Center. The conference will bring together a panel of health care providers, researchers, ethicists, and consumers to consider the current state of the science of reproductive genetic screening for CF carrier status. Using CF as a case study, the panel will be asked to develop recommendations concerning the safe use of reproductive genetic screening in the general population. Dr. Rodney Howell, a respected pediatrician from the University of Miami, has been selected as the panel chairman. The consensus conference is open to the public, with the exception of the final phase during which the panel writes its report. The NCHGR and the NIH Office of Medical Applications of Research are coordinating this conference.

Hereditary Hemochromatosis

Hereditary hemochromatosis (HH) is a common recessive disease in which an estimated 1 in 10 Northern Europeans are carriers of the trait and 1 in 400 have the disease. It is caused by a defect in iron metabolism that results in the accumulation of iron in various organs in the body. The most common symptoms are abnormalities in liver function, heart failure, diabetes and arthritis. Therapy is simple and highly effective: periodic phlebotomy to reduce the level of iron in the body. Early treatment can prevent the clinical manifestations of the disease. However, HH can masquerade as other diseases and is frequently misdiagnosed, preventing prompt treatment and leading to needless morbidity and mortality.

The NCHGR is in the early stages of planning a workshop to examine the implications of the discovery of the hemochromatosis gene, which was reported in the August issue of Nature Genetics. Preliminary discussions have occurred with other interested NIH Institutes and Centers (IC), the CDC, the presidents of several genetics organizations, and the Hemochromatosis Foundation. It is anticipated that the meeting will be held in early 1997.


In the FY97 House appropriations bill, the NCHGR received an 11.5 percent increase over the FY96 level. This is the largest increase of any component of the NIH and indicates that genetics is a high priority area for the Department of Health and Human Services and the NIH. The increase will be reflected in extramural research activities at the NCHGR. The Senate Subcommittee on Labor, HHS, and Education, chaired by Senator Arlen Specter, held hearings on June 18. In early September, the Senate Appropriations subcommittee marked up the NIH appropriations bill allocating $179 million for the NCHGR.

NIH Revitalization Act and Institute Status

The NIH Revitalization Act of 1996 was approved by the Senate Labor and Human Resources Committee on July 17. The bill included language to designate the NCHGR an institute - the National Human Genome Research Institute (NHGRI). In addition, Secretary Shalala has agreed to create the NHGRI administratively and has notified the House Commerce Committee and the Senate Labor and Human Resources Committee of her intentions. This notification initiated a required 180 day waiting period. At the end of this time, she can proceed to make the NCHGR an Institute. Designating the center as a research institute would not change the mission of the NCHGR nor require a change in the organizational structure or an increase in staff. It especially would not adversely affect the commitment of the other NIH institutes to human genetic research or increase the proportion of funds allocated for the NCHGR DIR.

Health Insurance Reform

The Health Insurance Portability and Accountability Act of 1996 (PL 104-191) was signed by the President on August 21. The bill prohibits insurers from establishing eligibility or enrollment requirements based on a number of health related factors including genetic information. The bill allows insurers to impose a limitation or exclusion of benefits for up to one year for pre-existing conditions but insurers may not impose exclusions if an individual has been insured for the previous 12 months. The bill stipulates that "genetic information" cannot be considered a pre-existing condition without a diagnosis.

Dr. Collins recognized the efforts of the many groups who worked hard to ensure that, under this law, genetic information cannot be used to deny or limit health insurance coverage. These groups included this council, the ELSI Working Group, the National Action Plan on Breast Cancer, the National Breast Cancer Coalition, The Genome Action Coalition, and many others.

Genetics Hearings

On July 25, the Senate Labor and Human Resources Committee held a hearing on "Advances in Genetics Research and Technologies: Challenges for Public Policy." On September 17, the House Science Committee Subcommittee on Technology held a hearing that highlighted new genetic diagnostic technologies and quality control issues. Dr. Collins participated in both hearings.

Congressional Meetings and Tours

Representative Clifford Stearns (R-FL) and members of his staff visited the NCHGR on July 9 to tour the facilities and to discuss genetics and ELSI issues. Senator Jeffords (R-VT) visited the NIH and the NCHGR on July 22. Senator Jeffords met jointly with Dr. Collins, Dr. Klausner (NCI director), and Pat Barr (National Breast Cancer Coalition and member of the Task Force on Genetic Testing). Topics discussed during this meeting included the Human Genome Project, the BRCA1 snapshot study, discrimination, genetic testing, and the proposed ELSI project in Vermont.

Recognition of Retiring Council Members

Dr. Collins recognized the outstanding service of the five members who will be retiring from the council: M. Anne Spence, Rodney Rothstein, Daniel Camerini-Otero, Anita Allen, and Shirley Tilghman. Certificates of appreciation were presented to Dr. Spence, Dr. Rothstein, and Dr. Camerini-Otero. Certificates will be mailed to Dr. Allen and Dr. Tilghman, who were not present at the meeting.

Report from the Department of Energy (DOE)

Dr. Ari Patrinos reported that a small decrease in the total FY97 budget for the Department of Energy (DOE) is anticipated; however, the DOE portion of the Human Genome Project (HGP) is likely to receive a 7 to 8 percent increase. Dr. Patrinos also described the creation of a joint genome institute, which will combine the research efforts in large-scale sequencing, technology development, and informatics of the Lawrence Berkeley Laboratory, the Lawrence Livermore National Laboratory, and the Los Alamos National Laboratory. The joint genome institute will be headed by Dr. Elbert Branscomb.

Scientific Presentation: Dr. James Ostell

Dr. James Ostell presented an overview of the NCBI and its role in the acquisition, analysis and dissemination of genome data. Dr. Ostell is the chief of the Information Engineering Branch, NCBI located in the National Library of Medicine. Using slides of "screen dumps" from a search and analysis of the TCRB gene, HIV sequences and other examples, Dr. Ostell demonstrated the power, versatility and limitations of existing software to collect and analyze data generated by genome researchers. These analyses included protein structure, electronic hybridization of sequences, phenotype information (from the Online Mendelian Inheritance in Man [OMIM]) and mapping.

Concept Paper for RFA: Technologies for Geome Analysis

Dr. Elise Feingold presented a concept for a request for applications (RFA) to stimulate the development of "genomic-scale" technologies for the study of genomic function and variation. Specific areas of interest included: the elucidation of the biological role of gene products and non-coding regulatory elements; the biological consequences of genome organization; the dynamics of mutations in populations; and the significance of genomic variation as it applies to phenotypes and to conservation between and among species. This RFA is intended to support the development of technologies that will take advantage of the complete genomic maps and DNA sequences for use in systematic and comprehensive approaches to the study of genomic function and variation.

The council members were enthusiastic about the concept and encouraged the NCHGR to be innovative and open-minded with respect to the kinds of applications that may be funded under such an RFA. Dr. Jordan noted that after the council approves the concept, other NIH ICs will be polled for interest in co-sponsoring the RFA.

Budget Projections

Dr. Mark Guyer presented draft budget projections to set the stage for discussions about the amount of money that the NCHGR should expect to spend to support its share of human DNA sequencing and the effect of those expenditures on other areas of NCHGR-supported research. The NCHGR proposed that an investment of $60 million per year in production sequencing would increase the likelihood of completing the human DNA sequence by 2005. In developing this projection, the NCHGR made two assumptions: that the DOE and other international programs would support 40 percent of the human DNA sequencing effort; and that the cost of sequencing would continue to decrease exponentially during the production phase. It is anticipated that the $60 million figure would be attained by 1998. Council members expressed interest in how the additional funds would be allocated (e.g., between technology development and increased sequencing efforts) and what information can be gained from the pilot sequencing projects to validate the assumptions upon which these budget projections were made. It was agreed that further discussion of this topic will take place at a future council meeting.

Update on the ELSI Working Group

Dr. Troy Duster updated the council on the activities of the ELSI Working Group.

  • The Task Force on Genetic Testing is revising its Interim Principles document, and a final report is due from the Task Force in 4-6 months. Dr. Duster reported that Secretary Shalala has expressed concern about the complexities of the issues surrounding genetic testing. Dr. Collins noted that a HHS interagency working group has been formed to address the recommendations of the Task Force.

  • Dr. Duster has corresponded with Dr. Shapiro, the chairman of the National Bioethics Advisory Commission (NBAC), in order to establish a relationship between the NBAC and the ELSI Working Group. Because of previous commitments, Dr. Shapiro was unable to attend the October 3 ELSI Working Group meeting.

  • The ELSI Working Group is refining their statements in two areas: discrimination and stored tissue samples.

  • Senator Domenici's staff has asked the ELSI Working Group to comment on the Senator's proposed privacy bill.

  • On behalf of the ELSI Working Group, Dr. Duster sent a letter to Dr. Varmus that expressed the concerns of the ELSI Working Group about the elimination of the Recombinant DNA Advisory Committee, and offers the assistance of the Working Group to NIH with respect to alternative forums and strategies.

  • Future topics that the ELSI Working Group plans to address include: consumer issues and population-based screening.

Update on the ELSI Working Group Evaluation Committee

Dr. Spence provided an update to the council on the activities of the ELSI Working Group Evaluation Committee. The committee has agreed upon the information needed in order to formulate its recommendations, and avenues for input included individual interviews, written comments, a World Wide Web site, and a public forum (scheduled for October). Dr. Spence assured the group that the committee will complete its work by the end of 1996, as scheduled.

Report on the June 1996 Meeting of the NIH Advisory Committee to the Director, and the Meeting of the National Advisory Concil and Board Representatives

Dr. Valle provided an update of the activities of the Advisory Committee to the Director (ACD) the National Advisory Council and Board Representatives. At the ACD meeting, the members heard a series of reports on the following topics: treatment modalities for AIDS; integrity and misconduct in research; and the NIH intramural and extramural programs. The council asked to be provided with a copy of the report on integrity and misconduct in research. Dr. Collins noted that this was a controversial report, especially the report's definition of "misconduct." [The council has been provided with copies of the report of the Commission on Research Integrity, entitled "Integrity and Misconduct in Research."]

The major topics of discussion at the meeting of the National Advisory Council and Board Representatives were ways to increase communication between councils and ways to increase recognition of the role of NIH as a major source of funding of biomedical research.

Council-Initiated Discussion

Dr. Hood suggested that "Genome II" be a topic for the scientific presentation at the next council meeting. Other suggestions included functional genomics and variation (Dr. Cox) and update on sequencing activities (Dr. Collins).

Conflict of Interest

Dr. Jordan read the Conflict of Interest statement and reminded the council members that all review materials furnished to council members are privileged information. Conflicts involving institutional affiliations already had been identified. Members were asked to absent themselves also during discussions of any applications in which there was a personal or professional conflict not identified by staff.

Review of Applications

The Council reviewed 64 applications, totaling $14,476,227. The applications included 14 regular research grants, four pilot projects, 11 ethics grants, one center grant, four conference grants, one continuing education training program grant, 11 Phase I Small Business Innovative Research grants, and seven fellowship grants. A total of 39 applications requesting $8,864,678 were recommended.

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Last updated: March 01, 2006