National Advisory Council for Human Genome Research
Summary of Meeting

Bethesda, Md.

February 21-22, 1999

The open session of the National Advisory Council for Human Genome Research (NACHGR) was convened for its twenty-fifth meeting at 8:30 a.m. on February 22, 1999, at the National Institutes of Health (NIH), Building 31 Conference Center, Conference Room 10. Dr. Francis Collins, director of the National Human Genome Research Institute (NHGRI), called the meeting to order.(1)

In accordance with the provisions of Public Law 92-463, the Council had met in closed session on February 21 at 6:30 p.m. at the Bethesda Marriott at Pooks Hill for the review, discussion and evaluation of grant applications. The meeting was open to the public from 8:30 a.m. until 12:30 p.m. on February 22, and closed to the public from 1:30 p.m. until adjournment on February 22 for further review, discussion and evaluation of grant applications.

Council members present:

Wylie Burke
Allen Buchanan
Aravinda Chakravarti
H. Robert Horvitz
Raju Kucherlapati
Jeanne Lawrence
Richard Mathies
Joseph Nadeau
Maynard Olson
Colleen Scanlon
Alan R. Williamson

Ex officio members:

Joel N. Buxbaum
William M. Nelson

Council members absent:

Troy Duster
David Cox
Robert Waterston
Barbara Wold*

*Attended the Sunday evening session via teleconferencing

Staff from the National Human Genome Research Institute:

Jane Ades, OPC
Carol Almeida, OAM
Meg Bouvier, OPC
Joy Boyer, DER
Lisa Brooks, DER
Erin Burgess, OAM
Jean Cahill, DER
Francis Collins, OD
Elise Feingold, DER
Barbara Fuller, OPC
Mary Glynn, OAM
Bettie Graham, DER
Mark Guyer, DER
Karen Hajos, OD
Linda Hall, DER
Craig Higgins, OPC
Kathy Hudson, OPC
Linda Jacobson, OAM
Elke Jordan, OD
Charles E. Leasure, OD
Emily Linde, DER
Kenji Nakamura, OSR
Diane Patterson, DER
Jane Peterson, DER
Rudy Pozzatti, OSR
Jerry Roberts, CIDR
Jeffery Schloss, DER
Sandra Taubenkibel, OAM
Elizabeth Thomson, DER
Emma Williams, OAM
Monika Yakovich, DER
Sally York, DER

Others present for all or a portion of the meeting:

Finley Austin, Merck Genome Research Institute
Wendy Baldwin, OD/ NIH
Kristina Borror, OD
Cheryl Corsaro, CSR
Matthew Davis, The Washington Fax
Machi Dilworth, NSF
Dan Drell, DOE
Paul Gilman, Celera Genomics
Thomas Hogan, The Blue Sheet
Susan Mattson, OD/NIH
Peggy McCardle, OD/OER
Pamela Moore, Capitol Publications
Ari Patrinos, DOE
Maria Persinos, Washington Insight
Min Song, NCI
Joan Weiss, Alliance of Genetic Support Groups

Introduction of New Members and Liaisons

Dr. Jordan welcomed five new Advisory Council members: Dr. Wylie Burke, University of Washington School of Medicine; Dr. Raju Kucherlapati, Albert Einstein College of Medicine; Dr. Maynard Olson, University of Washington; Ms. Colleen Scanlon, Catholic Health Initiatives in Denver; and Dr. Robert Waterston, Washington University School of Medicine. Dr. Waterston was unable to be present at the February meeting.

Dr. Jordan also introduced the liaisons to the council from the professional societies: Dr. Kurt Hirschhorn, representing the American College of Medical Genetics, and Ms. Rosalie Goldberg, representing the National Society of Genetic Counselors. Dr. Jeffrey Murray has rotated off as liaison for the American Society of Human Genetics. His replacement will be Dr. Ron Worton, who was not present at this council and will be introduced at a future meeting.

Approval of Minutes

The minutes from the September 14-15, 1998 NACHGR meeting were approved as submitted, with a note to correct the spelling of Dr. Chakravarti's first name from Aravindra to Aravinda on page 3.

Future Meeting Dates

The following dates were proposed for future meetings: May 17-18, 1999; September 13-14, 1999; February 28-29, 2000; May 22-23, 2000; September 11-12, 2000; February 12-13, 2001; May 21-22, 2001; and September 17-18, 2001.

Director's Report
General Announcements

Dr. Collins indicated that because of a scheduling conflict with the February 23 Senate Appropriations Hearings, council had met in closed session Sunday evening, February 21. An effort would be made to conclude the open session by the lunch break on Monday morning, February 22, so that Council could continue the closed session and complete its business on Monday afternoon.

Dr. Collins announced that he was in the process of recruiting an individual to serve as Special Assistant to the Director for Clinical Affairs. This individual would provide advice and guidance on clinical issues, the NHGRI outreach program that targets health professionals, clinical genetics issues having ethical, legal and social implications (ELSI), and serve as a liaison to other NIH and Department of Health and Human Services (DHHS) components. Currently, Dr. Collins is the only physician in the NHGRI Office of the Director and he must spend a significant amount of time dealing with clinical issues and responding to Congress regarding potential misuse of genetics research findings. A letter was sent to all physicians who are Board Certified by the American College of Medical Genetics inviting them to apply for this position. A search committee has been appointed and is preparing to review the candidates.

Report of Total Human Sequence in Genbank

As of Friday, February 12, 1999 GenBank is reporting the following numbers:
259,575 kb (8.1 percent) finished sequence
173,148 kb (5.4 percent) working draft sequence
432,723 kb (13.5 percent) TOTAL (including finished and working draft)

This represents a 46 percent increase over the total of 177,486 kb (5.9 percent) finished sequence reported at the September council meeting.

Program Items of Interest and Scientific Accomplishments

The Five-Year Plan presented at the September Advisory Council meeting was published in the October 23, 1998 issue of Science. The eight goals enumerated in the plan will serve as a blueprint for activities during the next five years, and call for the completion of the human sequence two years ahead of schedule.

The cover story in the December 11, 1998 issue of Science reported the completion of the C. elegans sequence, a collaborative effort involving researchers at Washington University and the Sanger Centre. This achievement is considered by Science to be one of the top 10 research findings of 1998, and will be highlighted by Dr. Varmus in his appearances before the Congressional appropriations committees.

Partnership Between Berkeley Drosophila Genome Project and Celera

The publicly funded Berkeley Drosophila Genome Project and Celera Genomics have signed a Memorandum of Understanding (MOU) that will allow them to become formal partners in an effort to decode the sequence of the fruit fly. The MOU, signed by Dr. Gerald Rubin of the University of California, Berkeley and Dr. J. Craig Venter, president of Celera Genomics, will enable Celera to test its "shotgun technique" of sequencing to speed up Dr. Rubin's decoding efforts. The MOU addresses concerns about public access to data and is a test of whether a public-private effort can expedite and lower the cost of sequencing. Details on how the finishing of this sequencing effort will be accomplished need to be worked out. However, all contigs of a certain length will be made public when released by Celera to Dr. Rubin. The complete set of shotgun data is expected to be in GenBank by the end of 1999.

Council discussed the feasibility of developing a similar MOU between the public and private sector for sequencing the human. The goal of the publicly funded Human Genome Project (HGP) is to produce finished human sequence that is very accurate and without gaps. The data to be released by Celera on a quarterly basis using the shotgun technique will be unfinished and contain unanchored contigs. From a business point of view, it could be advantageous to Celera to have a relationship with the public effort to work on closing gaps. However, the public effort needs to be concerned about intellectual property issues and sensitive to the concerns of its foreign partners in the Human Genome Project (HGP), such as the Wellcome Trust. NIH is committed to ensuring that sequencing data remains in the public domain. On the other hand, if private sector activities will benefit the HGP, NIH needs to be receptive.

NIH SNP RFA

One of the goals of the Five-Year Plan emphasizes the importance of cataloging human sequence variation. Towards that goal, NIH is making 17 awards in the area of variation. The total amount of funding over the 3 years will be $38.5 million. Funding is coming from 16 NIH Institutes, as well as from the Merck Genome Research Institute.

NIH DNA Polymorphism Discovery Resource

A resource of DNA samples and cell lines from 450 U.S. residents that can be used to discover SNPs (single nucleotide polymorphisms) has been deposited in the Coriell Institute. Samples are representative of the diversity found in the U.S. population, and all donors have given informed consent to be part of this resource. However, all identifying and phenotypic information has been removed from the individual samples so that links to individual donors are irreversibly broken. Researchers who wish to use these samples must have approval from an IRB, or their research must be designated exempt.

Prostate Cancer Gene Mapped to X Chromosome

In an international collaborative study, NHGRI intramural researchers have mapped a gene on the X chromosome responsible for increased susceptibility to prostate cancer. This is the first time that a gene for a common type of cancer has been mapped to the X chromosome. An individual with this particular mutant gene will have a greater risk of developing prostate cancer if his brother has the disease than if his father had the disease. This is the second prostate cancer gene this group has mapped.

Parkinson's Gene Discovery

NHGRI intramural researchers have identified another gene that causes Parkinson's disease. This finding bolsters the hypothesis that defects in a pathway for disposing of flawed proteins are responsible not only for Parkinson's, but for several other late-onset neurodegenerative disorders.

Advanced Mouse Models of Huntington Disease

NHGRI intramural scientists have developed a mouse model of Huntington's disease with the same brain abnormalities and behavioral and motor problems seen in humans with the illness. This model should help scientists understand underlying causes of Huntington's disease and other diseases with similar genetic inheritance patterns.

Smithsonian's Campus on the Mall Lecture Series

Part of the Smithsonian's Campus on the Mall lecture series recently featured eight evening seminars designed to shed light on genetic research with an opportunity to learn about diagnostic and therapeutic techniques on the scientific horizon. Eight of the nine speakers were NHGRI DIR investigators. The NHGRI homepage contains a link to the Web site giving information about the lectures and the slide presentation.

Talking Glossary of Genetics

NHGRI has established an online multimedia glossary to help people better understand genetic terms and concepts associated with many of the recent advances in genetics. The project is the first online glossary available publicly on the Internet to combine text, audio, and visuals in a user friendly format.

Watson Lecture

The Fourth Annual James D. Watson Lecture and Award Ceremony was held January 18, 1999 at the National Academy of Sciences. This lecture series is sponsored by The Genome Action Coalition. This year's speaker was Dr. David Satcher, Surgeon General and Assistant Secretary, Office of Public Health and Science, DHHS. Dr. Satcher spoke of the importance of genetics in public health.

NIH Initiatives and Other Meetings of Interest

Mouse Resources. In March 1998, NIH convened a group of scientists to develop priorities for mouse genomics and genetics resources. In response to the community's recommendations, Dr. Varmus created a Trans-NIH Mouse Genomics and Genetics Resources Coordinating Group which has developed a strategic implementation plan. The group is co-chaired by NHGRI's Dr. Elke Jordan and Dr. James Battey of the National Insitute of Deafness and Other Communication Disorders (NIDCD).

On October 5, 1998 the Coordinating Group held a priority setting meeting to develop the optimal strategy for an integrated approach to producing detailed maps and genomic sequence for the mouse. There was strong support for producing a "working draft" sequence by 2003, and the recommended strategy was to build the physical map as the sequence is generated. In order to increase the U.S. capacity to generate genomic sequence, three models were proposed: expand existing centers; allow some of the existing sequencing centers to switch to more mouse genomic sequence; or to start up new large-scale sequencing centers. In addition, there was a recommendation to establish mutagenesis and phenotyping centers that would serve the needs of the mouse research community. A Web site was established on the NIH home page summarizing these planning meetings and other relevant information on the mouse genomics initiative.

In January 1999 a meeting in Princeton, sponsored by Jackson Laboratories, brought together members of the mouse genetics community to discuss strategies for sequencing the mouse genome.

These planning meetings have resulted in a new RFA for a Mouse Genome Sequencing Network to support mapping and sequencing of the mouse genome. This is a trans-NIH initiative, and $21 million dollars has been made available for funding this RFA in FY 1999.

During council discussion of the mouse sequencing initiative, Dr. Williamson indicated that there was less enthusiasm in Europe for the strategy of sequencing first and mapping later. There was also discussion on how the mutagenesis centers would be coordinated using a central database and how specific regions would be targeted for sequencing. A question was asked about funding commitments for subsequent years, and Dr. Collins explained that funding plans from year to year depend upon the Congressional appropriation. Dr. Mathies indicated that a fundamental decision still needed to be made as to whether we should be striving for draft sequence or very accurate sequence with finish as you go.

Workshop on Non-Mammalian Model Organisms. The Workshop on Non-Mammalian Model Organisms was held February 16-17, 1999. This workshop was prompted by recommendations of a subgroup of the NCI Working Group on Pre-Clinical Models of Cancer, which was discussed at the February 1998 Council meeting. The recent workshop provided a forum to discuss genetic/genomic resources for additional model organisms, such as S. cerevisiae, C. elegans, Drosophila, and Zebrafish. The workshop was organized by NHGRI, the National Cancer Institute (NCI), National Insitute of General Medical Sciences (NIGMS), National Center for Research Resources (NCRR), and the National Insitute of Child Health and Human Development (NICHD) and was co-chaired by Dr. Raju Kucherlapati and Dr. David Valle. There were several breakout groups at the workshop that discussed additional eukaryotic, non-mammalian model organisms, development of microarrays for a variety of organisms and funding mechanisms. Requests for resources by the breakout groups totaled approximately $50 million.

Mammalian Full-length cDNA Initiative. There is a great need for a full set of full length cDNAs in a form that is expressible. Only 4000 to 5000 cDNAs are available out of the 60,000 to 80,000 that exist. NHGRI and NCI are leading the effort to launch a new trans-NIH initiative to obtain full-length cDNA clones and sequences of all genes for the human, mouse, and possibly other mammalian organisms. So far, 12 institutes have committed almost $10 million in FY 1999 funds towards this effort. A trans-NIH Steering Committee has been established, co-chaired by Dr. Elise Feingold, NHGRI and Dr. Robert Strausberg, NCI. A Technology Development RFA is about to be released and an External Advisory Committee is being established. Initial focus will be on human cDNAs. Availability of funding for the out years is still unknown. Dr. Lawrence pointed out that this is one area where the private sector is actively involved and that there is more information in private databases than in public databases.

Hereditary Hemochromatosis Workshop. A workshop, co-sponsored by CDC and NHGRI, was held on March 3, 1997 to examine the clinical, ethical, legal and social implications of discovery of the gene for hereditary hemochromatosis (HH) and the possibility of widespread population-based testing for this autosomal recesssive, adult-onset disorder. Follow-up analyses of clinical epidemiological and genetic data suggest that the relationship between HH genotype and iron overload is complex and many questions about the etiology, molecular basis and clinical course of HH-associated iron overloading remain unresolved. Given the potential for psychological, social and economic harm to affected individuals, it was felt that for now genetic testing for HH offers no advantage over phenotypic testing and may introduce unnecessary risk. A series of RFPs have been released by NHGRI and the National Heart, Lung and Blood Institute (NHLBI) to Study Iron Overload and Hereditary Hemochromatosis to gain further information on the value of population screening. Proposals are due March 15, 1999.

Budget Issues. In FY 1999 NIH was very fortunate and received an increase of 14.9 percent for a total of $15,652 billion. NHGRI actually received an increase of 21.3 percent over FY 1998. The additional funds will be used mainly to support large-scale human sequencing efforts to increase capacity and generate more sequence data per day at lower cost. The Advanced Development Program for DNA sequencing technology, the trans-NIH efforts to sequence the mouse genome, and the improvement of technology for producing full-length cDNAs also received some of the new funds.

However, the President's Budget for FY 2000 is only proposing a budget increase of 2.1 percent above the FY 1999 budget for NIH. This increase is below the rate of inflation, and it is hoped that Congress will be more generous. On Tuesday, Dr. Varmus will appear before Senator Specter's Senate Appropriation Labor, Health and Human Services, Education and Related Agencies Subcommittee and on Wednesday he will appear before Chairman John Porter's House Appropriations Labor, Health and Human Services, Education and Related Agencies Subcommittee.

In preparation for the NHGRI budget hearings, Dr. Collins met with House appropriations committee staff for Chairman Porter and Representative Obey, the ranking Democratic member, to discuss Human Genome Project initiatives. In addition, The Genome Action Coalition and NHGRI jointly sponsored a series of educational briefings examining recent developments in genetic research and their effect on medicine, which was attended by Congressional staffers. Dr. Collins is scheduled to appear before the House Appropriations Subcommittee on Thursday, February 25.

Dr. Collins indicated that he would defer discussion on health insurance, medical records confidentiality, and discrimination in the workplace to the May Council meeting. However, there is optimism in both houses of Congress that effective legislation may be passed this year.

Workshop on Implications of Bragdon vs. Abbott Decision. The Supreme Court decision on Bragdon vs. Abbott involved an HIV positive woman whose dentist refused to fill a cavity during an office visit, but wanted her to go to a hospital instead. The patient filed suit, citing protection from discrimination under the Americans with Disabilities Act (ADA). The Supreme Court found in the woman's favor based on the conclusion that asymptomatic HIV infection is a disability under the ADA. Because of concerns regarding the legal implications of this decision, NHGRI held a joint workshop with the National Action Plan on Breast Cancer on February 19, 1999. The general consensus of the workshop attendees was that the Bragdon vs. Abbott decision did not provide a strong enough precedent to provide protection against employment discrimination based on predictive genetic information.

NIH Comments on Draft NBAC Report. In November the National Bioethics Advisory Commission (NBAC) released a draft report on "The Use of Human Biological Materials: Ethical Issues and Policy Guidance" for public comment. The draft dealt with ethical issues and policy concerns regarding stored tissue samples. The trans-NIH Bioethics Coordinating Committee, chaired by Kathy Hudson, provided detailed commentary on the NBAC report. NBAC is currently assessing all the responses received from individuals and organizations, and a revised version is expected to be released in March or April.

Report from the Department of Energy

Dr. Ari Patrinos, Associate Director for Biological and Environmental Research, Department of Energy (DOE) Office of Science updated the Council on genome-related activities at the Department of Energy (DOE). Appropriations Hearings for DOE are scheduled in early March, and a modest increase is expected. There should be increased funds for microbial genomes and functional genomics.

Dr. Patrinos indicated DOE's concurrence with the scaled-up sequencing goals of the HGP. He discussed the opening of the DOE Joint Genome Institute's (JGI) Production Sequencing Facility (PSF) in Walnut Creek, CA and its planned dedication on March 29. In January the DOE Contractor/Grantee meeting was held in California to show off the new PSF. This PSF should increase DOE sequencing capacity by 4 times in the next 6 months and by 6 times over the next calendar year.

The JGI completed 21 Mb of human sequence (to Bermuda standards) in FY 1998 and has already completed 4.3 Mb of additional Bermuda-quality human sequence this year, as well as 14.8 Mb of high quality "draft" human sequence. In an accuracy test along with NHGRI-funded genome centers, the JGI performed extremely well. The JGI plans to have 5 million sequencing lanes in operation by March 1, 2000 and focus on 5X coverage of human chromosomes 5, 16, and 19. A smaller but parallel effort on mouse genome sequencing will also be undertaken.

Dr. Patrinos reported that a focus of the DOE genome program remains pushing ahead with the Bacterial Artificial Chromosome (BAC) end sequencing effort, which is on track. DOE anticipates that 400,000 BACs will have been end sequenced by November 1999, that three-quarters of them will have been fingerprinted, that the BACs would permit identification of sequence tag connectors every 3-4Kb, and in aggregate, the BAC end sequences would comprise perhaps a 1X coverage of 10 percent of the human genome.

In the area of functional genomics, the Deparment of Energy (DOE) is working with the National Institute of Environmental Health Sciences (NIEHS) on a study of the biological effects of low dose radiation, and an RFP is being developed. DOE is also collaborating on a structural biology project with NIGMS, and together with NIH and the Wellcome Trust is conducting ongoing discussions with Celera Genomics regarding a cross-agency Memorandum of Understanding (MOU).

NHGRI Gender and Minority Tracking Data

Each NIH institute and center (IC) is required to maintain data on gender and minorities for human subjects participating in research studies that do not fall under an IRB exemption. These data must be reported annually to the IC's advisory council. NHGRI has been tracking these data since 1994. Ms. Elizabeth Thomson presented these data to council, since in NHGRI the human subjects being tracked are participating in ELSI initiatives. Ms. Thomson indicated that the figures being presented are distorted because the ELSI program is relatively small and some projects target very specific populations (e.g., a 1994-1995 prenatal study involving 4,200 Ashkenazi Jewish individuals). A number of ELSI projects have targeted women who have been at increased risk to develop breast cancer and also women who are offered carrier and/or prenatal genetic testing. When asked about men involved in prostate cancer studies, Ms. Thomson indicated that to date, the ELSI program has not funded any projects involving genetic testing for prostate cancer. It was also pointed out that the number of subjects tracked from year to year varies widely depending upon whether survey research (involving large numbers of subjects) is being funded or much smaller clinical research studies (that might involve genetic counseling and testing) is being conducted.

Council members stated that the information was difficult to interpret and wondered how it compared with data in other ICs. It was suggested that it might be helpful to see the NIH aggregate data. The next time this report is presented, NIH-wide data will also be made available so council members will have a reference point for analyzing the information.

RFA on ELSI Research into Human Genetic Variation

Elizabeth Thomson presented a draft RFA to solicit projects that examine the ethical, legal, and social implications of the study of human DNA sequence variation. Of particular concern is how the information that results from this research will interact with current concepts of race and ethnicity, and how this information may influence access to various health services. To date, three other institutes have joined with NHGRI on this RFA (NIDCD, NIEHS, and NIGMS) and several others have expressed interest in collaborating. It is expected that approximately $1 to $2 million dollars per year for up to three years will be available to support this research beginning in FY 2000 to fund four to eight studies.

Council members expressed support for this RFA and stated that these issues are extremely complex and not easily understood or communicated, even to sophisticated audiences. Because issues having to do with human variation, self-identification and self-image are potentially volatile, council members suggested that the wording in the RFA should be more precise. Council also asked that consideration be given to support for education projects under this RFA. Council members were invited to provide additional wording for the RFA.

Implications of an Extension of FOIA to Grantees Research Data

Dr. Wendy Baldwin, NIH Deputy Director for Extramural Research, addressed the council on the implications of a recently enacted law requiring public access to all federally funded research data under the Freedom of Information Act (FOIA). This legislation appeared in The Omnibus 1999 Appropriations bill and directed the Office of Management and Budget to amend Circular A-110 to extend the scope of FOIA to include all grantee data produced with federal funds. Recently, OMB issued proposed regulations that defined data to include only "published" data. Nevertheless, implications for public-private partnerships and intellectual property rights remain. Representative George Brown has introduced legislation to repeal the new FOIA requirements, but for now we need to implement the law. We are now in a 60-day public comment period regarding the regulations, and Dr. Baldwin would like feedback from council members.

This law came about as a result of regulations on clean air standards proposed by the Environmental Protection Agency (EPA). Congress was concerned that these regulations were being put into effect even though the epidemiological data upon which they were based was not available to the lawmakers. Supporters of this legislation want to provide the public access to federally funded research data that is "used by the Federal Government in developing policy and rules."

Some ambiguities in the wording of the current legislation include the need to clarify what constitutes data and what constitutes a publication. It would be more descriptive to talk about data published in a "peer reviewed" journal, but there would still be problems because of the sequential release of data. Also, the legislation is very far reaching and says that the data must be accessible even if the level of Federal funding is very small. This creates problems when research is funded mainly from private sources and can create an atmosphere of distrust. Also, the data must be available up to 3 years after a grant has ended. Many investigators will have changed institutions by then. Since the institution, not the grantee, must provide the data requested under FOIA, it will be difficult to enforce compliance.

Under current regulations, Federal agencies are required under FOIA to give out only information that they have in their possession. Under the new legislation, agencies will have to go out and retrieve information. This can be a costly procedure, and NIH will not be given any funds to comply with the law. Any reimbursement made by an outside institution to cover the costs of the data retrieval will go directly to the treasury, not to NIH. Also, before data can be released to the public, it must be evaluated to see what needs to be redacted. NIH would have to review the original version of the data and keep it on file for six years. Another concern is that under FOIA there are no restrictions as to who may get the data or the purpose for which it can be used. This raises privacy issues when clinical data is involved. In general, the new legislation imposes a great administrative burden on NIH. NIH is preparing comments.

Council members expressed concern and indicated that the new legislation could change the way research labs operate. Laboratory notebooks may contain information that eventually results in patents or inventions. Premature release of this data could lead to patent litigation, since it may be difficult initially to determine that a notebook contains information of proprietary value.

Council members were also concerned that informed consent would be difficult to obtain if individuals in a research study felt that their privacy could not be protected. There is still some question as to how far back information can be requested. Dr. Baldwin felt information could not be requested if it originated before the new law was implemented. However, there is a question as to whether data can be requested from the time a grant was issued or when the data were published. Council members felt that the private sector should also be encouraged to comment on this legislation since they will also be affected by it. Dr. Baldwin felt that the council members were raising very important issues and encouraged them to send their comments to OMB. Dr. Baldwin would be happy to receive copies of any correspondence.

Memorandum of Understanding between NHGRI Staff and NACHGR

Since there were no proposed changes in the Memorandum of Understanding between staff of the National Human Genome Research Institute and the National Advisory Council for Human Genome Research, Council endorsed the policy as it stands.

Announcements and Items of Interest

Dr. Jordan noted the items of interest in the council folders, and referred council to the material in Tabs "S through W." Dr. Collins noted the trans-NIH nature of genomics research activities exemplified by the items of interest, which is a change from the situation five or six years ago. Council members suggested this reflected the impact of NHGRI research on the NIH.

Council-Initiated Discussion

Dr. Collins initiated a discussion of possible presentations at future council meetings. He reminded council that a policy seminar on how we move from ELSI concerns to implementation of official policy had been deferred because of the budget hearings and suggested that an ELSI presentation be given at the May meeting. He also suggested that Dr. Craig Venter be invited to the September council meeting to give an update on the partnership of Celera and the Berkeley Drosophila Genome Project. Dr. Kucherlapati indicated that the sequencing center directors should also be invited to participate in a presentation that focuses on sequencing production.

Council members indicated that they would like to be given an update on the status of intellectual property issues, that was the subject of a presentation given to Council in September 1997. Dr. Collins indicated that patenting will be a topic of discussion at the Cold Spring Harbor Genome Meeting scheduled for May 19, 1999, which will be attended by U.S. and international representatives.

Dr. Chakravarti indicated that it was important to hear from Dr. Venter as soon as possible to clarify how data was being released to the public and get a report on the difficulties Celera was experiencing with its sequencing technique, as well as the successes. He felt it was important to track how the public and private sector methods of collecting data compared, the quality of the private sector data, and how it was being utilized. We need a substantial amount of data in order to judge how the private and public sector programs can work together. Other council members supported this viewpoint. They felt there were policy issues that still needed to be debated in a public forum in addition to evaluating the technical merit of different sequencing techniques. It is important to maintain an ongoing dialog with Dr. Venter, and it would be advantageous to invite him to both the May and the September council meetings. It would also be a good idea to invite Dr. Rubin to the September council meeting to discuss his collaboration with Celera on the fly project. It was agreed that NHGRI would check with Dr. Venter regarding his availability to address the council at its next two sessions.

Council members also expressed an interest in finding out how the emphasis on ramping up funding for sequencing to obtain the finished human genome sequence by 2003 is affecting other projects, such as technology development, the mouse genome, etc. Dr. Collins indicated that NHGRI staff would develop projections on how increased funding for sequencing would affect other projects in the out years.

Council members discussed how the tremendous demand for sequencing data as soon as possible to make certain that information remains in the public domain may be affecting other potentially useful projects, such as the mouse genome. We need to set priorities and balance conflicting goals to decide what costs give the most value. However, it is increasingly difficult to make long-range goals. Many worthwhile projects, such as SNP and cDNA research, do not have obvious endpoints and may never be completed. We need to retain our focus on endgame issues, and achieving a finished, highly accurate, contiguous, complete sequence is still our main goal.

Review of Applications

In closed session, the council reviewed 60 applications, totaling $105,215,705. The applications included 10 regular research grants, five pilot projects, one program project, 15 ethics grants, three grants in response to request for application, one center grant, three conference grants, one research career development award, 19 small business innovative research awards - phase I, and two small business innovative research awards. A total of 41 applications requesting $102,943,723 were recommended.

I hereby certify that, to the best of my knowledge, the foregoing minutes are accurate and complete.(2)



Date Elke Jordan, Ph.D.
Executive Secretary
National Advisory Council for Human Genome Research


Date Francis S. Collins, M.D., Ph.D.
Chairman
National Advisory Council for Human Genome Research

1. For the record, it is noted that to avoid a conflict of interest, council members absent themselves from the meeting when the council discusses applications from their respective institutions or in which a conflict of interest may occur. Members are asked to sign a statement to this effect. This does not apply to en bloc actions.

2. These minutes will be formally considered by the council at its next meeting, and any corrections or notations will be incorporated in the minutes of that meeting.

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Last Reviewed: March 2006