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National Advisory Council for Human Genome Research
Summary of Meeting

Bethesda, Md.

September 9-10, 2002

The open session of the National Advisory Council for Human Genome Research was convened for its thirty-sixth meeting at 8:30 a.m. on September 9, 2002, at the Natcher Conference Center, 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 8:30 a.m. until 3:30 p.m. on September 9, 2002. In accordance with the provisions of Public Law 92-463, the meeting was closed to the public from 3:45 p.m. on September 9 until adjournment on September 10 for the review, discussion, and evaluation of grant applications.

Council Members Present

Wylie Burke
Kim Nickerson
Ronald W. Davis
Maynard V. Olson
William M. Gelbart
Janet D. Rowley
Eric Juengst
Robert Tepper
Bronya J. Keats
Robert H. Waterston
Raju Kucherlapati
Tadataka Yamada
Richard Lifton

Ad hoc Members

David Valle
Barbara Wold
Alan R. Williamson

Council Members Absent

Vickie Yates Brown Gerry Schellenberg (Ex Officio)
David Burgess

National Human Genome Research Institute Staff

Maggie Bartlett, OD
Peter Good, DER
Vence Bonham, OD
Bettie Graham, DER
Joy Boyer, DER
Alan Guttmacher, OD
Lisa Brooks, DER
Eric Green, DIR
Jean Cahill, DER
Mark Guyer, DER
Monika Christman, DER
Karen Hajos, OD
Francis S. Collins, OD
Linda Hall, DER
Elise Feingold, DER
Belinda Jackson, DER
Adam Felsenfeld, DER
Sandra Kamholz, DER
Lynn Frampton, DER
Ron King, DIR
Barbara Fuller, OD
Tim Leshan, OD
Emily Linde, DER
Jane Peterson, DER
Jean McEwen, DER
Rudy Pozzatti, DER
Rodecia McKnight, DER
Jerry Roberts, DER
Susan Mix, OD
Jeff Schloss, DER
Ken Nakamura, DER
Larry Thompson, OD
Ken Ow, OD
Elizabeth Thomson, DER
Diane Patterson, DER
Kris Wetterstrand, DER
Allison Peck, DER

Others Present for All or a Portion of the Meeting:

Joann Boughman, American Society of Human Genetics
Leland Ellis, USDA/ARS
Brandy Fureman, National Institutes of Health, DER/NINDS
Rodney Howell, American College of Medical Genetics
Tom Johnson, National Institutes of Health, OD/OSP
Edward Kloza, National Society of Genetic Counselors, Inc.
Benjamin Lum, The Blue Sheet
Pam Moore, Capital Publications
Sharon Olsen, International Society of Nurses in Genetics, Inc.
Ari Patrinos, U.S. Department of Energy
Gale Savage, Analytical Sciences, Inc.
Margaret Snyder, National Institutes of Health, OD/OER
Sandra Talley, National Institutes of Health, NIBIB
Gerald Vovis, Genaissance Pharmaceuticals
LaTonya Wesley, American Psychological Association

Introduction of Liaisons and New Employees

Preceding the introductions of new and visiting attendees, Dr. Francis Collins took a moment to reflect on the tragic events of September 11, 2001, and asked everyone to pause for a moment of silence in remembrance. Dr. Collins next thanked the council members for joining us at what he predicted would be an important and intense council meeting. Dr. Collins introduced Mark Guyer as the newly appointed Director for Extramural Research and Executive Secretary for Council.

Dr. Mark Guyer welcomed the three ad hoc council members: Barbara Wold, Alan Williamson and David Valle. Dr. Guyer welcomed the professional society liaisons: Rodney Howell, the representative from the American College of Medical Genetics, Edward Kloza, the representative from the National Society of Genetic Counselors, and Sharon Olsen, the representative from the International Society of Nurses in Genetics. Dr. Guyer introduced the new NHGRI staff members: Allison Peck and Sandra Kamholz both Science Program Analysts in the Division of Extramural Research

Approval of Minutes

The minutes from the May 20-21, 2002 Council meeting were approved as submitted.

Future Meeting Dates

The following dates were proposed for future meetings:

  • February 10-11, 2003 February 9-10, 2004
  • May 19-20, 2003 May 10-11, 2004
  • September 15-16, 2003 September 13-14, 2004

A special council session was proposed for October 9, 2002 at which time the first draft of the NHGRI strategic 5-year plan will be presented to council. A re-draft will come out of that discussion and will be presented at the Airlie II meeting in November.

Director's Report

I. General Announcements

Dr. Collins reported on the first few months of Dr. Elias Zerhouni's tenure as the NIH Director (his appointment was made official on May 20, 2002). Dr. Collins described Dr. Zerhouni as a very experienced leader and a visionary. Included among his priorities for the NIH are the appointments to fill several Institute/Center Director vacancies, identification and initiation of "high risk/high yield" research areas, and translation of research findings into new medical therapies. Although too soon to speculate on the outcome, Dr. Zerhouni is working on a "Road Map" initiative to identify new NIH approaches to tackling disease. Five focus groups were formed to help determine where NIH should invest its energies. Dr. Collins co-chaired one of these groups.

Council member Dr. Robert Waterston has been named chair of the Department of Genome Sciences at the University of Washington School of Medicine and will hold the William Gates II Endowed Chair in Biomedical Sciences starting in January 2003 (July 9th University of Washington press release). Dr. Rick Wilson, effective November 11, 2002, will succeed Dr. Waterston as the Director of the Washington University Genome Sequencing Center. Dr. Wilson joined Washington University in 1990 and has been the co-director of the Center and associate professor of genetics and molecular biology. Dr. Waterston reflected that the past 12 years had been "amazing" for him to contribute to the Human Genome Project with the Washington University group, but that the opportunity in Seattle offers him new challenges. Dr. Waterston also noted his confidence that the Genome Sequencing Center at Washington University will flourish under the leadership of Rick Wilson.

Staff Changes:

Office of the Director: Alan Guttmacher, M.D., formerly Clinical Advisor to the Director, is now the Deputy Director, NHGRI. He is also the acting Director for the Office of Policy, Planning, and Communications in OD.

Barbara Fuller, J.D., has assumed Elke Jordan's role as Deputy Ethics Counselor for NHGRI.

Vence Bonham, J.D. Associate Professor, Michigan State University is on a one-year sabbatical to the Office of the Director to coordinate efforts regarding issues of race and ethnicity and of health disparities.

Division of Extramural Research: Mark Guyer, Ph.D. is now the Director for Extramural Research and Executive Secretary for Council.

Jane Peterson, Ph.D. and Bettie Graham, Ph.D. each assumed the title of Associate Director for Extramural Research with distinct responsibilities.

Division of Intramural Research: Jeffrey Trent, Ph.D., after 9 years as the Scientific Director of DIR and Chief, Cancer Genetics Branch has agreed to accept the leadership of the newly formed Translational Genomics Research Institute in Phoenix, Arizona. NHGRI has established a search committee, chaired by Dr. James Battey (Director, Director) ,to carry out a national search to fill the position of Scientific Director, NHGRI. An advertisement for the position was posted in Science and Nature magazines with a closing date of September 15, 2002.

Dr. William Gahl, M.D., Ph.D. has accepted the position as Clinical Director, NHGRI after serving as the Medical Officer, Chief, Section on Human Biochemical Genetics Heritable Disorders Branch at NICHD.

II. New Initiatives
April 2003 Celebration Events - Update

The NHGRI is in the planning stages of a 3-day, April 2003 celebration of the 50th anniversary of the publication of the DNA structure, the completion of the human genome sequence and the unveiling of the new strategic plan for the National Human Genome Research Institute. It is hoped that the celebration will include a national proclamation of April 2003 as the "Human Genome Month" and April 25th as "DNA Day". Activities will include:

An all-day scientific symposium at the NIH on April 14th. . The symposium will be web cast to institutions around the world. Speakers will first discuss the science and the history of the Human Genome Project, and then will explore the future of science and medicine made possible by breakthroughs in genomic science. The symposium will include the unveiling of the NHGRI's new scientific plan. [N.B. Subsequent to the Council meeting, the symposium was expanded to a 2-day meeting.]

The Smithsonian Institution's Arts and Industries Building will open a preview of an exhibit entitled "The Genome: How Life Works", produced by Clear Channel Communications with support from Pfizer, Inc. The full exhibit will open at the Smithsonian in June 2003.

To bring the April 2003 celebration of genomics to the classroom, a video is being produced for circulation to high schools. A flyer has been sent out, asking teachers what issues they would like this video to address. Lesson plans, challenging activities and curriculum supplements regarding the Human Genome Project, genomic science and the basics of human genetics will be developed and made available on-line.

User's Guide to the Human Genome (copies given to Council members at the table)

This special edition of Nature Genetics was written to offer help to the wide range of biological researchers who are still learning to use the products of genomics. It is a resource that will allow those scientists to make better use of both sequence data and the tools that have been developed to view the data. The guide is written in a practical, question-and-answer format, with step-by-step instructions on how to approach a representative set of problems using publicly available resources. An electronic version will be housed on Nature magazine's website mid-September, and hard copy will be distributed in the September issue of Nature Genetics.

III. Recent Scientific Accomplishments and Issues

Sequencing. Approved by the May 2002 Council and featured in press releases from both the Washington Post and Nature News (8/29/2002), the following group of organisms, following review by The Genome Resource and Sequencing Priority Panel (GRASPP) were designated as high priority for genomic sequencing: chicken, chimpanzee, several species of fungi, a sea urchin, Tetrahymena, and the honey bee. NHGRI designated two other organisms, the rhesus macaque and Oxytricha, a protozoan, as having moderate priority. The selections were assessed by biological criteria and medical relevance of the species proposed, not sequencing strategies. This is an ongoing process, and in June, we received 7 proposals for 8 additional organisms; the GRASPP's recommendations concerning those organisms will be discussed in closed session. NHGRI staff, the sequencing centers and the Sequencing Advisory Panel will work together to match sequencing center interest with the approved organisms and determine the sequencing strategy to be employed.

Human Genome Update. We remain on track for finishing the euchromatic portion of the human genome by April 2003. Currently, 86.1% is in finished form, up from the 77.9% reported at the May 2002 Council session. The RIKEN Genome Sequencing Center hosted the Twelfth International Strategy Meeting on Human Genome Sequencing, in August 2002 in Yokohama, Japan. All 16 members of the International Human Genome Sequencing Consortium were represented. The discussions focused on how best to close the remaining gaps and approaches to quality assurance.

Coordination of the International Sequencing Consortium's efforts to sequence the chimpanzee genome was discussed at a satellite meeting. The Japanese collaborators are focusing on chromosome 23, the homologue of human chromosome 22, and have already sequenced a set of BAC ends. The U.S. collaborators are planning to generate a 4x product. It is anticipated that these goals will be achieved quite efficiently.

Mouse Genome Update. Earlier this year, the Mouse Genome Sequencing Consortium (MGSC) completed the whole genome shotgun phase of the project, achieving approximately 7X coverage containing 96% of the mouse genome. The MGSC is currently working on a publication to describe the first analysis of these data. Manuscript preparation has fallen to the leadership of Eric Lander and Bob Waterston. The trace repository, as of 9/6/02, contains 50,687,353 available traces. As of 8/23/02, the finished base count is 220,890 kb and the draft base count is 1,587,391 kb.

Rat Genome Update. The Rat Genome Sequencing Consortium (RGSC), led by Richard Gibbs at Baylor and including Celera Genomics and Genome Therapeutics, has generated approximately 5.5X coverage of the rat genome as a mixture of random whole genome shotgun reads and light shotgun coverage of a set of BAC clones. These "enriched BAC sequences" are available on the Baylor web site. The goal of the two-year effort is to generate approximately 6.5X coverage of the genome in whole genome shotgun reads combined with 1X coverage in BAC skims to produce a draft assembly. The RGSC met face-to-face July 15-16, 2002 in Vancouver. The trace repository, as of 9/6/02, contains 33,431,302 available traces. As of 9/6/02, finished base count is 166 kb and the draft base count is 2,651,182 kb.

Ciona savigyni Genome Update. With its high rate of SNPs, the whole genome shotgun sequencing effort on Ciona savigyni has been quite challenging for the Whitehead Institute for Genome Research. A preliminary assembly of 12 X shotgun data is underway and will be available within the next month. Deposited in the NCBI Trace Repository, as of 9/6/02, are 4,666,088 traces.

Ciona intestinalis Genome Update. This sequencing effort is being carried out at the DOE Joint Genome Institute. A draft assembly was completed earlier this year, and the sequence can be searched at the JGI website. Deposited in the NCBI Trace Repository, as of 9/6/02, are 1,939,113 traces.

Tetraodon nigroviridis Genome Update. Genoscope and the Whitehead Institute for Genome Research have assembled version 6 of the puffer fish genome by using over 3 million shotgun sequence reads representing 6X genome coverage, and have layered them onto a physical map. This has resulted in 108,177 contigs representing 70% of the genome. The assembly can be downloaded from the Genoscope web site http://www.genoscope.cns.fr/externe/tetraodon/Data/Reads/index.html. Deposited in the NCBI Trace Repository, as of 9/6/02, are 2,664,249 traces.

Fugu rubripes Genome Update. Sequencing of the second puffer fish, Fugu rubripes, is being done by the Sequencing and Analysis Consortium (DOE JGI, IMCB Singapore, UK HGMP Resource Center, ISB Seattle and U. of Cambridge UK), led by Sydney Brenner. A 5.7X whole genome draft sequence assembly was released on August 26, 2002 and can be accessed at the Fugu Genome Project web site http://www.fugu-sg.org/. Deposited in the NCBI Trace Repository, as of 9/6/02, are 1,926,836 traces.

Danio rerio Genome Update. The Sanger Institute released a preliminary assembly of the zebra fish genome, based on July 22, 2002 data including approximately 7.9 million unique sequencing reads. Approximately 77% of the genome is represented in supercontigs. The assembly can be searched and downloaded from the Ensembl web site. Deposited in the NCBI Trace Repository, as of 9/6/02, are 10,625,136 traces.

Extramural Program

Grants have been awarded for two new Centers of Excellence in Genomic Science (CEGS) - Human Genome Array: Technology for Functional Analysis, at Yale University under the direction of Michael Snyder, and the Center for Genomic Experimentation and Computation at the Institute of Molecular Sciences under the direction of Roger Brent. A new set of applications was received on June 1st and will be reviewed at the February Council. The plan is to award approximately 10 CEGS in total.

The Mammalian Gene Collection (MGC) is now under the management of Francis Collins, Elise Feingold and Robert Strausberg, following the departure of Dr. Richard Klausner former Director of the National Cancer Institute. To date, sequences from approximately 32,000 full-length human and mouse cDNA candidate clones have been identified (~20,000 human; ~12,000 mouse), and approximately 19,600 full-ORF sequences have been submitted to GenBank. This collapses to a non-redundant set of ~15,750 clones.


Twenty-three applications were received in July 2002 in response to the ELSI "Studies of the ELSI of Human Genetic Variation Research for Individuals and Diverse Racial and Ethnic Groups" RFA. Many of these were from new ELSI investigators. The Council will review the applications at its February meeting.

Recruitment began in February 2001 for the Hemochromatosis and Iron Overload Study (HEIRS), and continues at the five field centers. As of September 2002, more than 75,000 participants have been recruited into the initial screening phase. Approximately 51% of the participants are from minority populations.

Minority Outreach Initiatives

On June 24-25, NHGRI and the Office of the Director for the National Institutes of Health (NIH), welcomed members of the National Medical Association (NMA), the nation's leading professional society for African-American physicians, to the NIH campus for information sharing about genomics research and how it relates to minority health issues. This interaction was a step in facilitating the expansion of a working partnership between NIH, NHGRI, and the NMA, to ensure that genomics, as it translates to human health, is of real benefit to minority populations.

On August 5th, Dr. Collins gave the keynote address on "Genomics, Health, and Health Disparities" at the NMA's Annual Convention and Scientific Assembly held in Hawaii. On August 6th Dr. Collins and scientists from the Intramural Program participated in the Genomics, Cancer and Community joint session hosted by The R. Frank Jones Urologic Society of the NMA and the Coordinating Center for the African-American Hereditary Prostate Cancer Study Network.

NHGRI will be exhibiting and participating at the 2002 Annual National Conference of the Society for Advancement of Chicanos and Native Americans in Science (SACNAS) on September 26-29th in Anaheim, CA and at the 2002 Annual Biomedical Research Conference for Minority Students (ABRCMS) on November 15th in New Orleans.

Intramural Program

NHGRI is participating in an epidemiologic study of environmental and genetic risk factors for prostate and breast cancer in Barbados. A group of intramural researchers and Dr. Collins traveled to Barbados to witness the launch of the Barbados National Cancer Study (BNCS). The BNCS involves collaboration among the University of New York at Stony Brook, the University of the West Indies, and the NHGRI and the NCMHD. Barbados activities will be conducted under a subcontract from Stony Brook to the Ministry of Health.

Policy Issues

Appropriations. The Senate Labor-HHS Appropriations Subcommittee and the full Appropriations Committee approved the $136.7 billion appropriations bill in July, which represents a 7% increase over last year. Under this bill the NIH would receive $27.2 billion ($3.7 more than last year), completing the five-year doubling of the NIH budget. It is not clear when this bill will come to the Senate floor. The House has introduced the President's version of the Labor-HHS appropriation, but has not yet scheduled the mark up of the bill. The House version will stick to President Bush's $131 billion funding limit. The difference in the Senate and House bills will likely mean that Congress will not be able to finalize the Labor-HHS bill until after the election.

The Senate Appropriations Committee has also unanimously approved the VA-HUD spending bill for a total of $91.4 billion in discretionary funding, which is $2.07 billion less than President Bush proposed in his budget and $1.1 billion less than last year's bill. The National Science Foundation would receive $5.3 billion, $288 million more than the President's request.

Some discussion has already begun on the FY 2004 and 2005 budgets. Having completed the initial 5-year doubling of the NIH budget, a more modest schedule may be about to take effect.

Privacy Rule. The final HIPAA Privacy Rule Standards for Privacy of Individually Identifiable Health Information; Final Rule was published in the Federal Register on August 14, 2002. The compliance date remains August 14, 2003. NIH has been deemed not to be a "covered entity" and thus is not subject to the HIPAA Privacy Rule. However, NIH extramural grants and contracts will involve institutions and individuals that will have to comply. NIH is currently developing guidance materials for NIH staff and the research community.

Patenting Update. NHGRI has been working with NIH Director Zerhouni to respond to several questions from Representative Lynn Rivers (D-MI) regarding her two gene patenting bills "Genomic Science and Technology Innovation Act of 2002" and the "Genomic Research and Diagnostic Accessibility Act of 2002." These questions followed Dr. Zerhouni's participation in a House Science Committee hearing where he raised the issue of gene patenting. There had been discussion of possible hearings regarding these bills, but that is not likely to occur this year.

As a result of the pending legislation and interest by Dr. Zerhouni in the issues of gene patenting, NHGRI has decided to host a Patenting Roundtable on December 4, 2002. The purpose of the roundtable will be to explore the ramifications of patenting and licensing genetic sequence data and SNPs on healthcare delivery and research in the current climate and in the future. NHGRI will be able to utilize this information to help inform policy development and to identify ELSI research that would inform the policy process.

Genetic Discrimination. Since May, there has not been a great deal of new activity in Congress regarding the genetic nondiscrimination legislation introduced by Senator Tom Daschle (D-SD) and Senator Olympia Snowe (R-Me). The Senate Health, Education, Labor and Pensions Committee has been working hard to try to resolved the differences between the Democrat and Republican bills - S. 318 and S. 1995. Majority Leader Tom Daschle continues to say he hopes to bring such a bill to the Senate floor this year. President Bush has also been pushing for passage of a genetic discrimination bill. The primary House bill, H.R. 602 currently has 266 cosponsors, but has received no consideration this year.

Advisory Committee Updates

President's Bioethics Council. On July 11, the President's Advisory Council on Bioethics released its report Human Cloning and Human Dignity: An Ethical Inquiry. The Bioethics Council was unanimous in its opposition to human cloning. On the question of the ethics of cloning for biomedical research, the Bioethics Council was divided seven in favor and ten against with an abstention. Those in favor of allowing the research to go forward said it should do so "only under strict federal regulation." Those opposed to this type of cloning "recommend instituting, by law, a four-year ban on cloning-for-biomedical-research, applicable to all researchers regardless of whether federal funds are involved." They went on to say that there should be a federal review of: human embryo research, pre-implantation genetic diagnosis, genetic modification of human embryos and gametes, and related matters, with a view to recommending and shaping ethically sound policies for the entire field. Dr. Collins has been asked by the Council to address the group in December on the issue of genetic enhancement. Dr. Janet Rowley also shared her views on the Bioethics Council proceedings.

Secretary's Advisory Committee on Genetic Testing. The Department performed a review of the SACGT and decided not to extend the Committee's charter. The Department is planning to establish a new committee with a broader scope to address genetic testing issues as well as other aspects of genetics.

NHGRI - Education and Outreach

Web site. On June 21st NHGRI launched a totally redesigned Website with a new Internet address, www.genome.gov. The first overhaul since 1997, the project was a team effort led by Larry Thompson, Chief, Communications and Public Liaison Branch. The site is organized as seven major categories, with more than 1/3 of the site found in Research. The other categories are: Health, Policy and Ethics, Educational Resources, Careers and Training, Grants, Newsroom, and About NHGRI. Usability testing was performed with a representative segment of people from the various audience levels served by the NHGRI. NHGRI met the gold standard with 85% of the users being able to perform 85% of the services 85% of the time.

Report from the Department of Energy (DOE)

Dr. Ari Patrinos provided a report on genome research activities at the U.S. Department of Energy (DOE). Updating the human genome sequencing status for the Joint Genome Institute (JGI), led by Dr. Eddy Rubin at, Dr. Patrinos stated that chromosome 19 is finished, chromosome 5 is near completion and chromosome 16 is coming along. Reporting on the status of DOE's "Bringing the Genome to Life" program, 5 grants have been awarded. Most of these have a microbial focus and are addressing issues such as climate change, bio-remediation and clean energy. Efforts continue at DOE to make available to scientific users neutron and light source facilities to be used for activities involving spectroscopy, scattering, and imaging experiments. DOE is also planning department specific celebration events for April 2003.

Dr. Richard Lifton inquired about DOE's delay in releasing sequencing information on Ciona intestinalis. Dr. Patrinos responded that he would investigate what was probably a "glitch" in data deposition.

Report on the NHGRI 5-Year Strategic Plan

Dr. Alan Guttmacher presented a report on the procedure and status of the planning process for developing the NHGRI 5-year strategic Plan. Coincident with the completion of the finished human genome sequence in April 2003, NHGRI intends to publish a new plan encompassing the Institute's vision for future genomics research activities.

Ten workshops (nine of which have been held) were designed to gather the community's input, and aid in determining the future priorities of the Institute. The focus of these workshops were Proteomics (4/02); Education and Public Engagement (6/02); World View, Non-Medical Applications, Ethical Boundaries on Research, Sequencing and Re-Sequencing the Biome, 1% Workshop (7/02); Race, Ethnicity and Genetics, and Genetic Variation (8/02); and Genomics to Health (10/02). The strategic plan will consist of three components: Pillar I - Genomics to Biology, to elucidate the structure and biological significance of genomic-based research; Pillar II - Genomics to Health, translating genome-based knowledge into health related issues, and Pillar III - Genomics to Society, which will encompass many of the ELSI issues.

The first draft, in an outline format, will be presented to the Council at the October 9th special session. The draft will be revised based on Council's advice and presented at the November 2002 Airlie II meeting. Additional comments will be gathered and the final draft will be formally brought to the Council in February 2003. Upon approval, the plan will be published in April 2003.

Report on the Minority Action Plan

The first annual progress report on the NHGRI Minority Action Plan was presented by Dr. Bettie Graham. Dr. Graham reported on advances made in the five focal areas of the Action Plan.

Research training. The Research Training Advisory Committee has been formed and will assist NHGRI in monitoring the activities of the grantees charged with responding to the Minority Action Plan. The Committee is to include 2 NACHGR members - currently Dr. Bronya Keats and Dr. Kim Nickerson, and 4 or 5 members chosen for training expertise. Currently four of those positions have been filled - Dr. Walter Bollenbacher, Professor at the University of North Carolina; Dr. Shirley McBay, President of Quality Education Network for Minorities; Dr. Richard Moromoto, Dean and Professor at Northwestern University; and Dr. Merna Villarejo, Professor Emerita at the University of California, Davis. The first set of supplements to ongoing grants has been received and assessed, with 8 of the 15 having been rated as acceptable or acceptable with modification. Consultation visits were made to the Washington University and Whitehead Institute sequencing centers, and it is expected that funding will occur by month's end. Staff is working with four of the grantees to help them improve their proposals. Thirteen new applications were received in the current review cycle.

Approximately $500,000 has been spent on minority supplements, with 75% due to ELSI program awards. A substantial increase is expected next year when many of the newly proposed programs kick in in earnest.

Research Collaboration. Researchers in the DIR are collaborating with researchers at Howard University in genomic analysis of 2 diseases that disproportionately affect African-American populations - diabetes mellitus and hereditary prostate cancer. An international collaboration between researchers at the University of Antioquia, Colombia and the DIR was established in 2000 to study the genetics of ADHD in a Hispanic-Amerindian population isolate.

Education. The NHGRI short course was extended to include a new program called the Genome Scholars. Under this program, participating teachers were encouraged to choose a promising student to accompany them to the Short Course. Among the 14 participating students, ~50% were from URM groups. The Talking Glossary of Genetics in Spanish is now ready for the web and 5,000 copies have been printed for use at appropriate events and educational sessions. A larger marketing plan is nearly complete for a further reaching distribution. Spanish-speaking researchers at NHGRI volunteered to assist with this project.

Outreach/Communications. A number of grant writing workshops, held by Elizabeth Thomson, were conducted for members of the ELSI research community between June 2001 and June 2002. NHGRI staff members also participated in a variety of conferences and meetings sponsored by minority-serving associations such as ABRCMS, SACNAS, the Leadership Forum, Meharry Medical College, the National Council of La Raza and Zeta Phi Beta Sorority.

Partnerships. The April 2002 NGHRI-sponsored meeting with minority-serving professional societies and associations has facilitated potential partnerships between the University of Washington and the Salish Kootenai College (SKC) in Montana, to recruit Native American students into the university's graduate school and summer research program; and between the National Consortium for Graduate Degrees for Minorities in Engineering and Science, Inc. (GEM) and the NHGRI intramural division to recruit graduate students into its NHGRI training program.

Concept Clearance: Mentored Patient-Oreinted Rare Disease Research Career Development Award with Emphasis on Genomics (K23)

Dr. Bettie Graham presented for clearance a concept paper for a mentored patient-oriented rare diseases research career development award with and emphasis on genomics. The purpose of this award would be to support the career development of physicians who have made a commitment to focus on patient-oriented research that will involve the application of genomics to the study of rare diseases. This award would provide support for three to five years of supervised study and research for clinically trained professionals who have the potential to develop into productive, physician scientists focusing on patient-oriented research. The K23 mechanism provides awardees, through multidisciplinary didactic training and rigorous research training, with the opportunity to obtain both the knowledge and the research skills necessary to compete for independent support in patient-oriented research. It is expected that during the fourth year of the program, awardees would seek independent funding for the continuation of their research through the NIH or other funding based on peer review.

This award, targeted to M.D.s or M.D./Ph.D.s, carries the expectation of a 90% work effort, but will provide support at the 100% effort levels. Mentors should be M.D./Ph.D.s who are actually involved in this research. Progress will be monitored with reports given at an annual meeting, held here in Bethesda, in addition to the usual written progress reports and third year evaluations. The number of awards granted per year would be limited to three.

Council expressed several concerns with the concept as presented, including the requirement that mentors have an M.D. degree, that the program would be limited to rare disease studies, and the lack of focus on development of therapies. To take account of the Council's concerns, the announcement will be rewritten.

Concept Clearance: RFA for Continued Large-Scale Sequencing Capacity

Dr. Jane Peterson presented for clearance a concept for an RFA for continued large-scale sequencing. The large-scale sequencing program is currently funded through October 31, 2003 when the cooperative agreements supporting the three largest sequencing centers will terminate. Through this Concept Clearance, NHGRI staff recommended that the program be continued and offered a format for doing so. The proposed format was designed to implement a competitive process that would ensure that the program remains maximally productive and continues to foster evolution and improvement of the sequencing process. Applicants would be evaluated on the basis of their capability to continue to generate large amounts of high quality genomic DNA sequence and to continue to improve the efficiency of large-scale sequencing. Applicants would have to demonstrate the ability to generate a minimum number (5-6 million) of reads. A specified organism would not be required, but would instead be determined on the basis of the white paper process.

In a lively discussion, the Council recommended that the solicitation not be as prescribed as the concept document suggested, but that the focus be on the objective of the sequencing program. The Council was also interested in maintaing as much flexibility as possible for the NHGRI as the planning process defines future Institute priorities and as sequencing demand and technology develop over the next few years. In the end, the Council approved the RFA concept with the following modifications, that the funding period be three years, that the RFA not include a dollar amount, and that the eligibility statements be removed in favor of a statement that the objective of the program is to maintain the current level of sequencing capacity in the first year and, if possible, increase that level subsequently.

Recommendation on the Future of the BAC-Based Sequencing Program

Dr. Bettie Graham presented a Staff recommendation that the program for sequencing individual BACs be discontinued due to lack of demand. Staff noted that the number of requests for the sequencing of individual clones has steadily decreased, even with the expansion of the program beyond mouse. It is not clear why the demand turned out to be so much lower than our estimates. Whatever the reason, however, the lack of demand for the service provided by this program indicates that it does not need to be a high priority for the Institute.

The Council noted this program had been successful in achieving its original aims and that the centers who participated in the program had provided a valuable service. The decrease in demand can be seen as a sign of its success and that, at this scale of sequencing, investigators are finding ways to get this information that are less cumbersome. Council also suggested that, in place of the announcements of this program, investigators should be directed to the alternative ways in which any such sequencing could be done. Council voted to concur with the staff recommendation and discontinue the program.

Concept Clearance for a pilot Project on Exhaustive Determination of Functional Elements in the Human Genome

Dr. Elise Feingold presented for clearance a concept for an RFA for a pilot project for exhaustive determination of functional elements in the human genome. This would be part of a program to create a new public research consortium to test and compare existing and new methods to exhaustively identify and verify functional sequences in human genomic DNA. The concept proposed an initial RFA to solicit applications to pilot the effort using a limited region of the human genome. It is envisioned that investigators with diverse backgrounds and expertise would work cooperatively to rigorously evaluate the relative merits of a varied set of techniques, technologies, and strategies to identify all of the functional elements in human genomic sequence, to identify gaps in our ability to annotate genomic sequence and to consider the abilities of such methods to be scaled up into an effective overall strategy to analyze all of the functional elements encoded in the entire human genome sequence. A critical part of this consortium effort would be the development of a database to store and display the information in a useful manner. The concept also proposed a second RFA to support new technology development for identification of sequence-based functional elements.

The Council approved the concept, but noted that there would also be considerable merit in a comparable program focused on model organisms.

Announcements and Items of Interest

Dr. Guyer noted the single items of interest contained in the Council folders, an article from Science on the issues being addressed in finishing the human genome sequence. Dr. Collins mentioned Dr. Olson's recent article, The Human Genome Project: A Player's Perspective. J. Mol. Biol. (2002) 319, 931-942.

Council-Initiated Discussion

Dr. Olson initiated a discussion concerning sample collections for the SNP project and the related human subject issues by distributing a draft statement (attached) and moving that the Council adopt it. Dr. Olson stated that the lack of conceptual clarity is beginning to inhibit research, and that sample acquisition is becoming chaotic. Dr. Olson wondered whether this Council was the right group to address policy in this area, but suggested that staff could explore a mechanism to establish a uniform set of guidelines for collection of samples to be use in studies of human variation. He stated that there is a need for a document that addresses issues such as to what extent DNA samples are traceable to the donor; the definition of informed consent; the definition of informed consent within the family context; policies on the grand-fathering of cell lines and DNA samples and the relevant consent policies of these.

Council members agreed that this was an important issue. Dr. Nickerson offered the following amendment: Are there standardized processes and tools for tracking and evaluating how samples are acquired and whether the definitions of, and process for community consultation and informed consent are adequate, thereby potentially leaving individuals and communities vulnerable during DNA analysis in the future. This concern speaks to the issue of public understanding and trust - especially with regard to sample collection outside the U.S.

The Council raised a number of questions in the discussion, asking whether a group should be constituted to address these issues and present guidelines or whether it would be appropriate to organize a workshop on the subject. After discussion, the Council voted to approve Dr. Olson's motion, as amended. Dr. Collins suggested that the issue might be directed to Dr. Greg Koski, the Director of the Office of Human Research Protections, DHHS in the form of a letter from the Council.

Budget Table

Dr. Guyer pointed out that the budget table presented to the Council had not changed from the one presented at the previous Council meeting.

Conflict of Interest

Dr. Guyer 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 129 applications, totaling $ 107,698,711. The applications included 91 regular research grants, 5 career development awards, 3 research center awards, 2 conference grants, 11 SBIR Phase I, 4 SBIR Phase II, 4 fellowship grants, 1 STTR Phase I, 1 STTR Phase II and 7 others. A total of 81 applications requesting $78,841,688 were recommended.

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

Date Mark Guyer, 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