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National Advisory Council for Human Genome Research
Summary of Meeting

Bethesda, Md.

February 11-12, 2002

The open session of the National Advisory Council for Human Genome Research (NACHGR) was convened for its thirty-fourth meeting at 8:45 a.m. on February 11, 2002, at the Natcher Conference Center, National Institutes of Health (NIH), Bethesda, Md. Francis Collins, director of the National Human Genome Research Institute, called the meeting to order.

The meeting was open to the public from 8:45 a.m until 2:30 p.m. on February 11, 2002. In accordance with the provisions of Public-Law 92-463, the meeting was closed to the public from 2:30 p.m. on February 11 until adjournment on February 12 for the review, discussion and evaluation of grant applications.

Dr. Collins introduced the new Council members who are not yet officially appointed but are in attendance for this meeting. Tadataka Yamada is the Chairman of Research and Development at GlaxoSmithKline. Vicki Yates Brown is the Chair of Health Care and Insurance Practice Group at Greenebaum Doll & McDonald. Robert Tepper is the Executive Vice President of Discovery at Millenium Pharmaceuticals.

Council members present:

Vickie Yates Brown
David Burgess
Wylie Burke
Ronald Davis
William Gelbart
H. Robert Horvitz [By Phone/Closed Session Only]
Bronya Keats
Raju Kucherlapati
Richard Lifton
Maynard Olson
Janet Rowley
Robert Tepper
Robert Waterston
Alan Williamson
Tadataka Yamada

Council members absent:

Kim Nickerson

Staff from the National Human Genome Research Institute:

Jane Ades, OD
Joy Boyer, DER
Lisa Brooks, DER
Senétra Buie, DER
Jean Cahill, DER
Carol Carnahan, DER
Eileen Cavanagh, DER
Monika Christman, DER
Francis Collins, OD
Edith DeHaut, DER
Elise Feingold, DER
Adam Felsenfeld, DER
Lynn Frampton, DER
Barbara Fuller, OD
Mary Glynn, OD
Peter Good, DER
Bettie Graham, DER
Alan Guttmacher, OD
Mark Guyer, DER
Karen Hajos, OD
Linda Hall, DER
Kathy Hudson, OD
Belinda Jackson, DER
Elke Jordan, DER
Tim Leshan, OD
Emily Linde, DER
Carol S. Martin, DER
Jean McEwen, DER
Rodecia McKnight, DER
Ken Nakamura, DER
Khang Nguyen, DER
Ken Ow, OD
Diane Patterson, DER
Jane Peterson, DER
Elizabeth Pledger, OD
Rudy Pozzatti, DER
Jerry Roberts, DER
Susan Saylor, DER
Jeff Schloss, DER
Erin Shannon, DER
Larry Thompson, OD
Elizabeth Thomson, DER
Kris Wetterstrand, DER

Others present for all or a portion of the meeting:

Sally Amero, NIH, CSR
Jim Anderson, NIH/NIGMS
Robert Boyd, Knight-Ridder
Cheryl Corsaro, NIH, CSR
Machi Dilworth, NSF
Kenneth Frushour, NIH, OD
Lauren Hafner, The Blue Sheet
Edward Kloza, National Society of Genetic Counselors
Ramesh K. Nayak, NIH, CSR
Bernice Morrow, American Society of Human Genetics
Sharon Olsen, International Society of Nurses in Genetics
Ari Patrinos, U.S. Department of Energy
Margaret Snyder, NIH, OER, OS
Gerald Vovis, Genaissance Pharmaceuticals
Michael Watson, American College of Medical Genetics
Todd Zwillich, Reuters

Introduction of Liaisons, Guests and New Staff

Dr. Jordan introduced new NHGRI staff. Tim Leshan is Senior Policy Analyst in the Office of the Director. Belinda Jackson is Science Program Analyst in the Division of Extramural Research.

Dr. Jordan welcomed liaisons to the council from the professional societies: Michael Watson, the representative from the American College of Medical Genetics, Edward Kloza, the representative from the National Society of Genetic Counselors, Bernice Morrow, the representative from the American Society of Human Genetics and Sharon Olsen, the representative from the International Society of Nurses in Genetics.

Dr. Jordan extended welcome to members of the press: Lauren Hafner of The Blue Sheet and Robert Boyd of Knight Ridder.

Dr. Jordan also welcomed Machi Dilworth from the National Science Foundation.

Approval of Minutes

The minutes from September 10, 2001 NACHGR meeting were approved as submitted.

Future Meeting Dates

The following dates were proposed for future meetings: May 20-21, 2002; September 9-10, 2002; February 10-11, 2003; May 19-20, 2003; September 15-16, 2003; and February 9-10, 2004.

Director's Report

General Announcements

Dr. Collins reflected on how the world has changed since the last council meeting on September 10-11, 2001. The NHGRI is helping out in the aftermath of the World Trade Center (WTC) attacks in two ways. The institute along with the Office of the Chief Medical Examiner, the New York Police Department, and the National Institute of Justice developed a brochure on "How DNA Can Help Identify Individuals," which is being distributed to the families of the victims of the WTC attacks. Two NHGRI scientists are also participating on the World Trade Center Kinship and Data Analysis Panel (KADAP).

Dr. Collins congratulated Bob Waterston, David Cox, Mark Boguski and Ed McCabe who were elected to the Institute of Medicine on October 15, 2001.

The search for a new NIH director continues. Andrew von Eschenbach has been named the director of the National Cancer Institute (NCI). Marvin Cassman is leaving his position as director of the National Institute of General Medical Sciences to become the first director of the California-based Institute for Quantitative Biomedical Research.

The National Institute of Mental Health (NIMH), National Institute of Neurological Disorders and Stroke (NINDS), National Institute on Drug Abuse (NIDA) and National Institute of Alcohol Abuse and Alcoholism (NIAA) are all currently under the leadership of an acting director. Dr. Collins requested council submit recommendations for potential directors of these institutes to him to be forwarded to the appropriate search committee.

NHGRI held a major meeting on December 12-14, 2001 at Airlie House as the formal kickoff to the strategic planning process for the future of the institute. The major presentations from the meeting are available on the NHGRI Web site. The final plan will be published in the spring of 2003.

Recent Scientific Accomplishments and Issues
Sequencing Update

NHGRI has developed a process for utilizing the NHGRI-funded capacity to construct additional genomic BAC libraries. Pieter de Jong at Children's Hospital, Oakland Research Institute, Rod Wing at Clemson University, and Chris Amemiya at the Virginia Mason Research Center were funded to construct libraries for the research community. The BAC Resource Steering Panel, chaired by Eric Green, has been formed to provide advice to the BAC Resource Network regarding the library construction process.

The Genome Resources and Sequencing Priorities Panel (GRASPP), chaired by Bill Gelbart has been formed to review proposals that come in for BAC library construction and for genomic sequencing (see below). As a result of the first round of proposals, GRASPP has recommended Taeniopygia guttata, Mus castenus, Saccoglossus kowalevskii, Exenopus tropicalis, and Oikopleura dioica for the construction of BAC libraries. The second date for BAC library construction proposals and the first receipt date for genomic sequencing proposals was February 10th. These proposals will be reviewed in March.

The main focus of the human sequencing effort continues to be finishing the genome to the high standards set by the International Human Genome Sequencing Consortium. This is targeted for April 2003. At the time of the council meeting, 2.1Gb (about 70 percent) had been finished.

The Mouse Genome Monthly Newsletter has been developed to distribute recent information about the mouse sequencing effort to the scientific community. The shotgun phase of the mouse genome effort has reached 6X coverage and an assembly is now underway. It should be available mid to late March. The Mouse Sequencing Liaison Group, chaired by Wayne Frankel, has been established to serve as a line of communication between the sequencing centers, funding agencies, and the mouse research community.

The Rat Genome Project, a jointly funded project by NHGRI and NHLBI, is being led by Richard Gibbs at Baylor University. The goal of the two-year effort is now to generate approximately 7X coverage. Currently, over 20 million genomic rat traces have been deposited in the NCBI Trace Repository. The Ciona Savignyi Genome Project has 14X coverage available in the NCBI Trace Repository. The Tetraodon Genome Project currently has 500K reads available in the NCBI trace repository and the rest is available from center websites (2.5X coverage from Whitehead Institute for Genomic Research and an additional 1.8X coverage from Genoscope).

Extramural Program

Dr. Collins referred to Tab K, containing the Revised Program Announcement for the Centers for Excellence in Genomic Science Program. This is an effort by NHGRI to fund highly innovative research focused around the next phase of genomics. Council will review the second round of applications in the closed session.

As part of the Mammalian Gene Collection (MGC), the identification of candidate full-length human and mouse cDNAs continues to progress well. To date, sequences from approximately 13,500 full-length clones have been submitted to GenBank.


The ELSI Research Program has released a new RFA focused on the Study of Ethical, Legal and Social Implications of Human Genetic Variation Research for Individuals and Diverse Racial and Ethnic Groups. Recruitment for the Hemochromatosis and Iron Overload Study is going well. Over 40,000 individuals have been recruited for the initial screen.

Minority Outreach Initiatives

NHGRI held an all grantee workshop on recruiting and graduating minority students in biology. Dr. Collins referred to the meeting summary and list of resources located under Tab "M."

Intramural Program

Dr. Collins referred to recent accomplishments by scientists in the intramural program located under Tab "N."


The 2002 fiscal year budget has been approved and represents a 14.7 percent increase over the previous year for NIH. The 2003 President's Budget was released and concludes the commitment to double the NIH budget over five years. It represents a 15 percent increase over 2002 for NIH and a focus on bioterrorism and cancer research. NHGRI is targeted for an 8 percent increase. The appropriations hearings will be held over the next couple of months.

NHGRI continues to work with the White House and Congressional staff to provide assistance for genetic discrimination legislation.

Advisory Committee Updates

Dr. Collins referred to the press release located under Tab "P" announcing the newly appointed President's Bioethics Council. Advisory Council member Janet Rowley is a member of this committee. She reported that the group will be focusing on issues related to both reproductive and therapeutic cloning. The next meeting will be held in April 2002.

Dr. Collins referred to the status of "third party" deliberations under Tab "O." The document is a statement put forth by the National Human Research Protections Advisory Committee (NHRPAC) that outlines four criteria Internal Review Boards (IRBs) may consider when approving research where information is provided by a human subject about someone else. Dr. Collins requested that council review the document and determine whether it provides sufficient guidance for IRBs. Council recommended that the document define what constitutes sensitive information, articulate the harms, and help IRBs outline security protocols to protect research subjects.

Education and Outreach

NHGRI and the Office of Rare Diseases have established a Genetic and Rare Diseases Information Center. It opened January 11, 2002 and aims to meet the information needs of the general public, including patients and their families, health care professionals and biomedical researchers.

Nearly 400 people attended "The Challenges and Impact of Human Genome Research for Minority Communities" held November 9-11, 2001 in partnership with the National Human Genome Center at Howard University.

NHGPEG held its 5th Annual Meeting on January 30-31, 2002. The committee has a new 15-person board of directors elected by representatives from over 100 professional member organizations.

Report from the Department of Energy (DOE)

Ari Patrinos provided a report on recent genome-related activities at the Department of Energy (DOE). He stressed the commitment of DOE and its Joint Genome Institute to finishing the human genome sequence of chromosomes 5, 16 and 19 by the end of the year. DOE is also involved in ongoing collaborations with NIAID to sequence microbes.

The DOE's Genomes to Life Initiative is continuing to grow. Dr. Patrinos circulated an RFP to solicit applications for large, well-integrated, multidisciplinary teams to do research focused on one of the four main goals of Genomes to Life. Letters of intent are due by March 1, 2002 and applications are due by May 7, 2002.

DOE is working to develop scientific user facilities for the future. These could include protein expression centers, imaging centers, and computational centers. Council was interested to know the criteria for the user facilities and how large a community such a center could serve.

Concept Clearance: Large-Scale Genotyping for the Haplotype Map

Lisa Brooks presented for clearance the concept for an RFA for the large-scale genotyping for the human Haplotype Map Project. The project will create a tool that will enable researchers to find genes that affect complex traits and will be used for association studies. The components of the project include estimating haplotype variation in multiple populations, finding more SNPs, developing better genotyping technology, developing better statistical methods, genotyping samples from a few populations across the entire genome, and improving the map. The estimated completion date is fall 2004.

Council was enthusiastic about the need for pilot studies to understand and define variation among populations, the need for cheaper SNP genotyping technology, and the need for reliable allele frequency information in the SNP database. Council agreed this project will be useful for testing the Common Disease Common Variant hypothesis. Council was concerned about providing ample opportunity for competition between genotyping platforms, as they had some concerns about locking into any particular technology at an early stage.

Council unanimously approved the Concept for an NIH RFA for the large-scale genotyping component of the Haplotype Map Project.

Report from the First Meeting of the Genome Resources and Sequencing Priority Panel (GRASPP) Review

The committee, chaired by Bill Gelbart, met to review the first round of proposals for BAC Library production. Five organisms received the highest level of enthusiasm and will enter the production pipeline. The panel has decided the default should be 10x coverage and the heterogametic sex should be chosen. In making its choices, the committee is considering both the importance of the organism for biological research and the potential medical benefits.

Report from the Meeting of the Research Network for Large-Scale Sequencing

The Research Networks meeting was held January 7-8, 2002 to discuss the progress of human, rat, and mouse genome sequencing. Richard Lifton reported that a web-based tool has been developed for the sequencing centers to track clones and manage gap closure as part of the finishing process of the human sequence. The group is committed to completing the sequence by April 2003 and is on track to do so.

For the Rat Genome Project, the fingerprint map has been completed and the collaboration between Baylor, Celera, and Genome Therapeutics has produced 5X coverage, well ahead of schedule.

The mouse genome project has had similarly remarkable progress. To date the fingerprinting is complete on 300,000 BAC clones. In a preliminary assembly, the average contig length is 16kb and the average scaffold is 1Mb.

Announcements and Items of Interest

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

Council-Initiated Discussion

At their next meeting, council would like to review the status of the under-represented minority training efforts, discuss the white papers received for the large-scale sequencing of new organisms, and get an update on the NHGRI planning process. Wylie Burke will give a report on the progress of both the ERA and EPPG panels that will be planning the future of the ELSI program and policy activities.

Budget Table

Dr. Jordan referred to the budget table found under Tab "T."

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 92 applications, totaling $44,798,158. The applications included 17 regular research grants, 4 pilot projects, one program project, 22 ELSI grants, two request for applications, one area grant, 15 center grants, one research career development award, three training grants, one continuing education training program, 13 SBIR Phase I, two STTR Phase I, four fellowship grants, and six others. A total of 49 applications requesting $38,212,745 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

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Last updated: March 01, 2006