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National Advisory Council for Human Genome Research
Summary of Meeting

Natcher Conference Center
Bethesda, Md.

February 13, 2001

The open session of the National Advisory Council for Human Genome Research (NACHGR) was convened for its twenty-eighth meeting at 8:30 a.m. on February 13, 2001, at the Natcher Conference Center, National Institutes of Health (NIH), Bethesda, Md. Dr. Francis Collins, Director of the National Human Genome Research Institute (NHGRI), called the meeting to order. (1)

The meeting was open to the public from 8:30 a.m. until 10:30 a.m. on February 13, 2001. In accordance with the provisions of Public Law 92-463, the meeting was closed to the public from 10:30 a.m. on February 13 until adjournment for the review, discussion and evaluation of grant applications.

Council members present:

Allen Buchanan
David Burgess
Wylie Burke
Ronald W. Davis
William Gelbart
H. Robert Horvitz
Bronya J. Keats
Raju Kucherlapati
Richard P. Lifton
Kim J. Nickerson
Maynard Olson*
Janet D. Rowley
Colleen Scanlon
Robert H. Waterston
Alan R. Williamson

Ex officio member:

Gerard Schellenberg

Staff from the National Human Genome Research Institute:

F. Boyd, DIR
Joy Boyer, DER
Lisa Brooks, DER
Jean Cahill, DER
Francis S. Collins, OD
Claire T. Driscoll, DIR
Elise Feingold, DER
Adam Felsenfeld, DER
Lynn Frampton, DER
Mary Glynn, DER
Bettie J. Graham, DER
Alan Guttmacher, OD
Mark Guyer, DER
Linda M. Hall, DER
Craig Higgins, DER
Linda Jacobson, DER
Elke Jordan, OD
Emily Linde, DER
Monique Mansoura, OD
Carol Martin, DER
Jean McEwen, DER
Kenji Nakamura, DER
Khang Nguyen, DER
Diane Patterson, DER
Jane Peterson, DER
Rudy Pozzatti, DER
Jeff Schloss, DER
Erin Shannon, DER
Elizabeth Thomson, DER
Kris Wetterstrand, DER

Others present for all or a portion of the meeting:

Sally Ann Amero, NIH/CSR
Robert Boyd, Knight Ridder
Cheryl Corsaro, NIH/CSR
Lyle Dennis, The Genome Action Coalition
Machi Dilworth, National Science Foundation
J.W. Dunlap
Frank Greene, National Science Foundation
Lauren Hafren, FDC Reports
R. Rodney Howell, American College of Medical Genetics
Edward Kloza, National Society of Genetic Counselors, Inc.
Pat Kobor, American Psychological Association
Bernice Morrow, American Society of Human Genetics
Stephanie Ottley, PhRMA
Ari Patrinos, DOE
Cliff Poodry, NIH/NIGMS
Chris Peterson, SRI

* Via teleconference


Dr. Francis Collins welcomed the attendees and was gratified that council members were able to attend the proceedings on February 12, 2001 that announced the publication of papers describing the working draft DNA sequence of the human genome.

Dr. Collins also indicated that Council member Dr. Maynard Olson will participate by conference phone.

Introduction of Liaisons and New Employees

Dr. Jordan welcomed liaisons to the Council from the professional societies: Rodney Howell, the new representative from the American College of Human Genetics, Edward Kloza, the new representative from the National Society of Genetic Counselors, Bernice Morrow of the American Society of Human Genetics and Sharon Olsen of the International Society of Nurses in Genetics. She also introduced Machi Dilworth and Frank Greene of the National Science Foundation and Lyle Dennis of The Genome Action Coalition.

Dr. Jordan also extended welcome to Members of the Press: Lauren Hafner of the Blue Sheet and Robert Boyd of Knight Ridder.

Ms. Lynn Frampton was introduced as a new Program Analyst in the Division of Extramural Research.

Approval of Minutes

The minutes from the September 11-12, 2000 NACHGR meeting were approved as submitted.

Future Meeting Dates

The following dates were proposed for future meetings: May 21-22, 2001; September 10-11, 2001, February 11-12, 2002, May 20-21, 2002 and September 9-10, 2002.

Director's Report

General Announcements

Dr. John Sulston, the former Director of the Sanger Centre in the United Kingdom, was awarded a knighthood for services to genome research in the New Year Honours list.

Mr. Tommy Thompson was sworn-in as the new Department of Health and Human Services (DHHS) Secretary on February 2, 2001.

The National Center on Minority Health and Health Disparities (NCMHD) was established in October 2000.

The new National Institute of Biomedical Imaging and Bioengineering was established in December 2000. Jeff Schloss, an Extramural Program Director, has been involved in the transfer of technology grants and will continue to monitor events as the new institute takes form.

Craig Higgins, NHGRI Senior Advisor on Legislative Affairs and Director of the Education, Policy and Outreach Branch is leaving to become Staff Director for the House Appropriations Subcommittee, under Congressman Ralph Regula.

New NHGRI Initiatives in Genomics

A workshop to explore new ways of enhancing minority participation in genomics research will be held April 16 & 17, 2001. A draft prospectus for the workshop was handed out and council was asked to comment.

Recent Scientific Accomplishments and Issues

Human genome sequencing: The manuscripts describing the working draft of the human genome are now published and attendees were encouraged to read them in the February 15 issue of Nature.

The Mouse Sequencing Consortium will achieve roughly three-fold coverage of the mouse ("Black-6" strain) by the end of March. Data repositories have been established to archive and provide access to sequence traces at the European Bioinformatics Institute and at the National Center for Biotechnology Information.

New awards for rat genome sequencing, funded by NHLBI, will be made soon to fund the additional sequencing of the rat genome.

The Mammalian Gene Collection (MGC), the effort to identify and sequence full-length human and mouse cDNAs, supported by several NIH institutes, continues to progress well. Currently, there are approximately 20,000 candidates in the pipeline. Of the first 1,000 sequenced, 84% have included the full-length open reading frames.

"A Decade of ELSI Research" conference was held January 16 to 18, 2001 on the NIH campus to review the past ten years of ELSI related research.

Report from the Department of Energy

Aristides Patrinos, Associate Director for Biological and Environmental Research at the Department of Energy (DOE) updated the council on genome-related activities at DOE. Mr. Spencer Abraham is the newly appointed Secretary of Energy. Dr. Patrinos brought copies of the new DOE advisory report "Genomes to Life" that details the DOE's plans for research activities in genomics, especially for sequencing and understanding the biology of microorganisms.

The plans revolve around three major areas of research: bioremediation, clean energy (bioreactors) and carbon sequestration. There are four major goals: life's molecular machines (protein complexes), gene regulatory networks, functional repertoire of microbial communities and computational aspects of all the above issues. The DOE is currently involved in numerous RFAs through the Office of Advanced Scientific Computing. Dr. Patrinos extended special thanks to Dr. Barbara Wold, Dr. Elbert Branscomb and others who have contributed greatly to the report.

Minority Tracking Report

Dr. Monique Mansoura presented an analysis of data, for FY 1997 and 1998, on the inclusion of minorities and women in clinical research within the NHGRI extramural and intramural research portfolios and contrasted the data with that of NIH as a whole. The NIH Revitalization Act of 1993 strengthened already existing NIH policies of inclusion of minorities and women in clinical research. This legislation primarily targets Phase III clinical trials, of which NHGRI has none. Overall, the NHGRI data are not inconsistent with the NIH portfolio. However, NHGRI has a very small number of protocols and participants.

Dr. Nickerson commented that minority recruitment is an NIH-wide concern. Dr. Burgess recommended plotting the data against the percent of the U.S. population for each group. Hispanics as a group are probably underrepresented. He asked what initiatives the Ethical, Legal and Social Implications Program (ELSI) has in place to address this recruitment issue. Elizabeth Thomson described a number of efforts: supplements are frequently awarded to projects that have difficulty recruiting minorities, ELSI reaches out to minority institutions through directed correspondence, program announcements and conference invitations, and ELSI staff make efforts to attend relevant meetings.

Dr. Waterston pointed out that the location of a study can greatly affect the diversity of that project's participants. Dr. Jordan explained that the emphasis is on balance within the portfolio and not necessarily within each study. Dr. Collins added that some specific NHGRI-funded protocols have better representation of diverse groups, but pointed out that these studies were funded in 1999, and thus not included in the analysis. Dr. Collins also agreed that Hispanic participation is an important issue.

Dr. Burgess commented on the small numbers of grants in this analysis and asked if there was a move to increase the NHGRI budget for ELSI research higher than the current 5 percent. Dr. Collins agreed that this is a discussion council should have at some point, but would require a careful analysis of whether current funding levels are inadequate for the research opportunities. Ms. Thomson did point out that NHGRI has had no shortage of funds and been able to pay the top scoring grants. However, new initiatives to reach out to minority institutions could be considered.

Concept Clearance for BAC Library Production

Dr. Adam Felsenfeld described a proposal to establish increased capacity for bacterial artificial chromosome (BAC) library production. NHGRI currently funds one grant to produce two whole genome BAC libraries per year. This level may become a bottleneck, as the demand for BAC libraries for use in genomic sequencing is expected to increase over the next few years. Based on a recommendation from an advisory group that recommended the production of fifty BAC libraries over the next few years, NHGRI proposes to write a solicitation to fund the production and distribution of ten libraries per year. The BAC libraries will be of use to the NHGRI-funded sequencing centers, both for comparative genomic sequencing and the sequencing of specific regions of interest. NHGRI will have a role in selection of organisms, which will also be coordinated with large-scale sequencing targets. NHGRI expects to fund two to three cooperative agreements at $2M per year, with an initial three-year project period.

Dr. Gelbart asked about a plan for quality assessment of the BAC libraries. Dr. Felsenfeld explained that NHGRI expects that quality assessment will be an integral part of each proposal. Dr. Kucherlapati endorsed the need for readily available BAC libraries at reasonable cost.

Dr. Horvitz inquired about the nature of the coordination with large-scale sequencing. Dr. Kucherlapati also expressed his interest in this coordination. He advocated flexibility in establishing sequencing priorities. Dr. Felsenfeld replied that NHGRI would like BAC library production capacity to exist in anticipation of the increased demand for such libraries. He expects that BAC libraries will be used for purposes other than large-scale genomic sequencing. Dr. Waterston also emphasized the need for the libraries in advance of demand and the need to foster BAC library making skills. Dr. Olson advocated encouraging these skills in additional laboratories and also coupling the establishment of priorities with the peer review process.

Dr. Lifton inquired about what types of activities will be served by the existence of twenty or so BAC libraries. Staff provided some examples: comparative sequencing in different strains of the same species, sequencing of specific regions in a large number of organisms and the gathering of preliminary comparative data to help determine the next steps in comparative sequencing.

Proposal to Expand the NIH Mouse BAC Sequencing Program

Dr. Bettie Graham presented a summary of the NIH Mouse BAC Sequencing Program, which began in January 2000 with three sequencing centers participating. Web-based applications for sequencing (to the draft or finished level) specific BACs in the mouse C57/BL6 strain were received from the research community and reviewed. Six rounds have occurred to date, with a total of 60 requests and 45 approvals, resulting in 106 BACs in the sequencing pipeline. The number of requests remains far below the available capacity. A customer survey was conducted and users of this service expressed a desire for expansion of the program.

NHGRI proposes to expand the program, to the sequencing of BACs from any animal or fungus with an existing BAC library. The requester would be required to demonstrate the biological significance and provide the BAC clone. NHGRI proposes to accept applications, starting April 1, 2001, four times a year and standardize sequence coverage to a full shotgun (6 to 10-fold) level.

In response to an inquiry from Dr. Lifton, NHGRI staff confirmed that the program will accept applications for the re-sequencing of already sequenced regions, in a new strain. This type of request may not require full shotgun coverage. Other council members agreed that different projects need different coverage levels. Dr. Collins and Dr. Waterson expressed concerns with the need for a more broad-based review process to address coverage needs and biological significance in many different organisms.

Dr. Horvitz asked about the restriction of organisms to animals and fungi. He asked what were the reasons for excluding microbes. Dr. Collins pointed out that microbes do not require a BAC-based sequencing approach. The goal is really to exclude plants and prokaryotes. Dr. Kucherlapati encouraged NHGRI staff to consider the goals of the participating sequencing centers, so they do not simply become service centers.

Announcements and Items of Interest

Dr. Jordan noted the items of interest in the council folders, and referred council to material in Tab "Q."

Council-Initiated Discussion

At the next council meeting, Dr. Collins proposed discussing the prioritization of organisms for genomic sequencing. Dr. Lifton proposed discussing how to do large-scale re-sequencing (how much to do and how much will it cost). Dr. Kucherlapati requested updates on the progress in finishing the human genome and completing the working draft of the mouse.

Dr. Rowley requested a report of the proposed April meeting with Celera to compare methods of whole genome assembly. She was also interested in how NHGRI will move into proteomics. Dr. Collins described current plans for the April meeting, saying that it will be roughly 15 to 18 people and focus on assembly issues, not annotation. Dr. Gene Myers of Celera Genomics and Dr. David Haussler of the University of California at Santa Cruz have agreed to be co-chairs.

Budget Table

Dr. Jordan referred to the budget table found under Tab "T." NHGRI received a 14 percent increase over last year.

Conflict of Interest

Dr. Jordan read the Conflict of Interest policy to council and asked them to sign the forms provided.

Review of Applications

In closed session, the council reviewed 66 applications, totaling $28,725,167. The applications included 18 regular research grants, one pilot project, 10 ELSI grants, three requests for application, one center grant, one conference grant, two research career development awards, two training grants, three continuing education training programs, 11 SBIR Phase I, 3 SBIR Phase II, two fellowship grants, four S.T.T.R. - Phase I, and five others. A total of 45 applications requesting $24,047,876 were recommended.

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

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

Date Francis S. Collins, M.D., Ph.D.
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."

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Last updated: December 01, 2005