September 1994 NACHGR Meeting Summary

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


National Advisory Council for Human Genome Research
Summary of Meeting

Embassy Suites Chevy Chase Pavilion
Washington, D.C.

September 22-23, 1994

The National Advisory Council for Human Genome Research (NACHGR) was convened for its twelfth meeting at 8:30 a.m. on September 22, 1994, at the Embassy Suites Chevy Chase Pavilion, Washington, D.C. Dr. Francis Collins, director of the National Human Genome Research Institute (NHGRI), called the meeting to order.

The meeting was open to the public from 8:30 a.m. to 1:30 p.m. on September 22. In accordance with the provisions of Public Law 92-463, the meeting was closed to the public from 1:30 p.m. to 6:00 p.m. on September 22 and from 8:30 a.m. to adjournment on September 23, for the review, discussion and evaluation of grant applications.

Council members present:

Dr. Anita Allen**
Dr. David Botstein
Dr. R. Daniel Camerini-Otero**
Dr. Jerome Cox
Dr. Joe W. Gray
Dr. David E. Housman
Dr. Kimberly Quaid*
Dr. Kenneth N. Rosenbaum*
Dr. Diane Smith
Dr. Lloyd Smith
Dr. M. Anne Spence
Dr. Shirley Tilghman

* Ad Hoc Member
** Appointment Pending

Staff of the National Human Genome Research Institute attending included:

Jane Ades, Committee Management Officer
Anita Allen, Secretary
Midge Bajefsky, Grants Technical Assistant
Dr. David Benton, Assistant to the Director for Scientific Data Management
Sharon Bourque, Grants Management Specialist
Erin Burgess, Budget Officer
Jean Cahill, Chief, Grants and Contracts Management Section
Dr. Francis Collins, Director
Derrick Culbertson, Grants Clerk
Dr. Carol Dahl, Assistant Director, Sequencing Technology Branch
Linda Engel, Chief, Office of Scientific Review
Dr. Elise Feingold, Health Scientist Administrator
Leslie Fink, Chief, Office of Communications
Mary Glynn, Personnel Officer
Dr. Bettie Graham, Chief, Mapping Technology Branch
Dr. Mark Guyer, Assistant Director for Program Coordination
Linda Hall, Grants Management Specialist
Mollie Hilty, Grants Technical Assistant
Dr. Nancy Johnson, Scientific Review Administrator
Dr. Elke Jordan, Deputy Director
Kimberly Malone, Secretary
Carol Martin, Computer Programmer Analyst
Dr. Kenji Nakamura, Scientific Review Administrator
Diane Patterson, Grants Management Specialist
Jane Paull, Grants Technical Assistant
Dr. Jane Peterson, Chief, Mammalian Genomics Branch
Charlotte Quinn, Program Assistant
Michael Royal, Budget Analyst
Anne Rufo, Program Analyst
Dr. Jeffery Schloss, Health Scientist Administrator
Helen Simon, Chief, Program Planning and Evaluation
Dr. Robert Strausberg, Chief, Sequencing Technology Branch
Elizabeth Thomson, Acting Chief, Ethical, Legal, and Social Implications Branch
James Vennetti, Executive Officer
Sally York, Grants Management Specialist
Asli Yucel, Grants Technical Assistant

Others present for all or a portion of the meeting were:

Dr. Claudia Blair, OD, NIH
Dr. Cheryl Corsaro, DRG
Dr. David Cox, American Society of Human Genetics
Dr. Donna Dean, DRG
Dr. Daniel Drell, DOE
Dr. Kurt Hirschhorn, American College of Medical Genetics
Dr. Kathy Hudson, Department of Health and Human Services
Ami Jaeger, Washington, D.C.
Betty Mansfield, Human Genome News
Dr. Norka Ruiz-Bravo, NIGMS
Dr. Jay Snoddy, DOE
Dr. Marvin Stadolsky, DOE
Lisa White, The Blue Sheet

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

Dr. Jordan introduced Dr. Kurt Hirschhorn, liaison to the Advisory Council from the American College of Medical Genetics, and Dr. David Cox, liaison to the Advisory Council from the American Society of Human Genetics. She also welcomed two new council members, Dr. Anita Allen and Dr. Daniel Camerini-Otero, and announced that Dr. Edward Scolnick was also a new member of the council but was unable to attend this meeting. Drs. Kimberly Quaid and Kenneth Rosenbaum were introduced as the ad hoc members of this council and Ms. Charlotte Quinn, Program Assistant in the Ethical, Legal and Social Implications (ELSI) Branch, was introduced as the new staff member in the NHGRI since the last NACHGR meeting.

Approval of Minutes

The minutes from the May council meeting were approved as submitted with one correction: on page 3, under Future Meeting Dates, September 22-23 should be 1994, not 1995.

Future Meeting Dates

The proposed dates of January 30-31, 1995, and May 22-23, 1995, were approved by the NACHGR members, but the date of September 18-19, 1995, coincided with the annual sequencing meeting in Hilton Head. NHGRI staff agreed to identify alternative dates for the council meeting in September 1995. Subsequent to the meeting, the dates of September 11-12, 1995, were selected.

Role of Council in NHGRI Intramural Research Program

Dr. Collins introduced Dr. Jeffrey Trent, NHGRI scientific director, who was present for the discussion of the role of the council in the NHGRI intramural research program. The council had requested a proposal on this relationship and a draft statement had been sent to them prior to this meeting. Dr. Jordan noted that the National Institutes of Health (NIH) is also considering the role that councils should have in relation to intramural programs and the NHGRI may have to adjust its strategies based on NIH recommendations. Dr. Trent updated the council on intramural activities since the last meeting. The Visiting Investigator Program (VIP) is now formalized and the response from interested investigators has been overwhelming. In addition, the review process for the NHGRI's intramural program has undergone dramatic, positive changes over the last year, particularly with the now-chartered Board of Scientific Counselors. The council members underscored their strong interest in keeping the council and Board of Scientific Counselors in close communication and Dr. Collins assured them that, while the functions of the two groups were clearly separate, the lines of communication would be kept open. The council unanimously endorsed the proposal for relating to the intramural program as presented. The council will receive the annual report of the Division of Intramural Research (DIR) and the scientific director will present a yearly summary of the actions of the Board of Scientific Counselors as well as key intramural developments to the council at its January meeting. At this meeting the council will also discuss the allocation of resources between the extramural and intramural programs for the next budget cycle. The chair or a representative of the Board of Scientific Counselors will be invited to participate in this discussion.

Director's Report

Dr. Collins began his report with updates on scientific advances, noting that it was an exciting month for genome science. He reported with pleasure that a gene for breast cancer, BRCA1, had been identified after an intense search by investigators in a number of laboratories. The results will be published in the October 7 issue of Science. In addition, the September 30 issue of Science will publish another paper in which a second breast cancer gene locus is identified, BRCA2. Dr. Collins also noted a research advance from the intramural laboratory of Dr. Nic Dracopoli, namely the identification of p16 as the familial melanoma gene. This will be reported in the September issue of Nature Genetics. The genome meeting jointly sponsored by Science magazine and the Human Genome Organization (HUGO) will be held on October 3-5, with participation by Dr. Collins and Council members Drs. Shirley Tilghman and Lloyd Smith, as well as Secretary Shalala. This meeting will be held in connection with the publication of the genome issue of Science on September 30. That issue will include a report on the remarkable progress in mapping with achievement of the genetic map goal of the Human Genome Project (HGP) more than a year ahead of schedule.

Dr. Lloyd Smith reported on the sequencing meeting at Hilton Head earlier that week. His assessment was that overall the meeting was exciting and he was encouraged by the progress in sequencing since the meeting last year. Highlights of the meeting included progress in addressing the challenges of sequencing; progress on the yeast genome sequence with the anticipated finish by the end of 1996 or perhaps even 1995; and the useful workshop organized by Drs. Robert Strausberg and Carol Dahl to address the range of sequencing issues, particularly closure issues. There is cautious optimism in the sequencing community that the goal for sequencing may be met, but the short-fall of grant support is seen as continuing to hamper progress in this area. It was noted that there is more involvement of industry than academia in sequencing efforts at this time.

Dr. Collins continued by directing the council's attention to an announcement of 4 positions in the ELSI programs. Applications are due on November 1 and he invited the council members to encourage qualified applicants to apply for these positions. The plan is to have full ELSI staffing by the spring of 1995.

In reporting on the status of the FY 1995 budget, Dr. Collins stated that it was anticipated that NIH would have an appropriation by October 1. For the first time, the President's budget request for NHGRI was not reduced. The level of $152 million was supported by both the House and Senate and the Conference on September 20 resulted in a budget of $153 million for the NHGRI, with the inclusion of $1 million for AIDS in the intramural program. Dr. Collins noted that the budget included about $113 million for extramural research and $39 million for the intramural program and completes the ramp up for intramural.

Other Congressional activities included a visit by Senator Connie Mack to the NHGRI, as well as a visit by Greg Simon, chief domestic policy advisor to Vice President Gore. Dr. Collins endorsed the value of their touring the intramural laboratories and having an opportunity to participate in hands on science.

Mission Statement for the ELSI Working Group

Dr. Collins directed the council's attention to a draft of the mission statement for the ELSI working group. The statement includes a provision for the working group to report to NACHGR and to the Department of Energy's (DOE) Health and Environmental Research Advisory Committee. The creation of specific task forces of the working group was also explained. The council discussed various aspects of the statement for clarification and requested that reports from the working group be shared with the council and that Dr. Anita Allen, the member of council who will be appointed to the working group, report to the council on the working group activities. Dr. David Cox underscored his view that the working group would not address a particular issue unless there were grants in the portfolio addressing that issue or there were other sources of reliable data. If there were no such grants, the working group would communicate that to the council and encourage a focus on that particular area. Dr. Collins stated that a notice had been published in the Federal Register proposing the creation of a National Bioethics Advisory Commission. Dr. Collins welcomed this development and expressed the belief that the commission would operate in a genuine partnership with the NIH and DOE ELSI programs.

Report of the Meeting of the Working Group on Physical Mapping Standards, May 11, 1994

Dr. Peterson reminded the council that, at their last meeting, they had recommended a set of guidelines be developed for assessing progress in physical mapping as called for in the five year plan. This issue was addressed by a meeting of center directors during the Cold Spring Harbor meeting in May 1994. Dr. David Cox reported that they were successful in developing standards for reporting progress in physical maps. The goal was to inform the scientific community how to report mapping data in a common context. It is important that these standards be adopted to ensure that the scientific community is able to recognize when the five year goal for physical mapping is achieved. The statement is to be published in the September 30 issue of Science.

Proposal to Restrict the Size of ELSI Components in GeSTecs

Dr. Peterson lead the discussion of this proposal to restrict the size of ELSI components in Genome Science and Technology Centers (GeSTeC) to 5 percent of the total budget. She reported that recently proposals have been coming in with expanded ELSI components and the review of these components is different from that of individual ELSI proposals, as these reviewers do not see the full range of ELSI proposals. Conversely, the ELSI review groups do not see the scientific context in which education applications are set. Ms. Thomson stated that 20 percent of the ELSI portfolio is spent on education projects. Dr. Collins raised the issue of tight budgets and the concern that education efforts will grow faster than science. Dr. Spence noted that the discipline of education is a very diverse field and what scientists might choose as good education might not be viewed as good education by members of the education community. Comment from the council indicated that council members were not troubled by the differences in the reviews of these ELSI proposals. One suggestion was to strengthen the review of the educational portions of GESTECs. Rather than establish a policy, the council endorsed approaching each GESTEC review on a case-by-case basis. The council requested a report at the January meeting on the ELSI portfolio focusing particularly on the education components in ELSI grants as well as those in the GESTECs.

Report on NHGRI GeSTec Directors' Meeting on Genome Informatics

Dr. Benton reported that ten GESTECs were represented at the meeting on genome informatics and a report from the meeting was provided to the council. Dr. Benton highlighted a few of the significant activities that had occurred on the priorities identified, including disseminating information on software, integration of databases, and priority software needs. Dr. Snoddy from DOE stated that the proposal for the Genome Data Base is on-line and he invited comments on it. Dr. Botstein noted that enormous progress had been made in identifying and addressing the problems. Dr. Benton concluded his report by noting that two meetings of GESTEC informatics staff will occur over the next 18 months.

Request for Applications on Sequencing

In introducing this topic, Dr. Collins reminded the council that at their May meeting they had reviewed a document addressed to the NIH Director Dr. Harold Varmus, describing high priority initiatives in DNA sequencing technology development. This proposal had met with enthusiastic support by Dr. Varmus. The proposed RFA is based on that document. Dr. Strausberg then reviewed sequencing technology and the state of the science currently. Dr. Dahl reviewed the goals of the proposed Request for Applications (RFA) on sequencing, which would set aside $3 million for from 5 to 10 grants in FY 1995. Concern was expressed about the level of funding for this initiative and suggestions were made to clarify some portions of the RFA that were seen as ambiguous. Dr. Jerome Cox stated that he was pleased with the RFA and considered it a good way to increase the chances of scaling up in the future.

Report on Reinvention Roundtable on Peer Review

Dr. Botstein reported to the council on the Reinvention Roundtable that he had attended in July. The meeting was convened by Dr. Varmus and focussed on the peer review process. Various proposals for streamlining the process were presented and discussed, as well as the structure and organization of Study Sections. The structure and organization of Study Sections is also being studied by another group. Dr. Corsaro shared highlights from the proceedings of that meeting, which was organized by Drs. Keith Yamamoto and Donna Dean.

Pre-Proposals

Dr. Jordan solicited feedback from the council on a concept described in a memo to the deputy director for Extramural Research at NIH, Dr. Wendy Baldwin. She noted that the responses to this idea had been quite diverse, and that a few applicants had expressed a willingness to be involved in a test of pre-proposals. The council members engaged in a discussion of the potential merits and limitations as various models were explored and debated. Council members agreed that pre-proposals will only save time and effort if they are combined with specific action based on the pre-proposal. They specifically urged NHGRI staff to be very clear when communicating with applicants about the acceptability of their planned applications. The concept of pre-proposals will be discussed at the November meeting of the Genome Research Review Committee.

NHGRI Reinvention Initiatives

Ms. Engel reported on NIH reinvention initiatives and those that NHGRI is adopting, including the use of triage and modified summary statements comprised of the reviewers' comments, essentially unedited, and a resume and summary of discussion. The NHGRI Office of Scientific Review will also move toward eliminating calculation of recommended budgets, with the exception that budgets will be presented for GESTECs with scores of 200 and better. A reinvention experiment has been proposed to evaluate the effectiveness of having reviewers give overall recommendations rather than making detailed analyses of the budget. Detailed budgets would then be provided by the applicant at the time of award. In addition to saving time for reviewers, this model might also reduce the work associated with the rebuttal process for both applicants and staff. Ms. Engel stated that this proposal would be discussed at the November meeting of the Genome Research Review Committee, and the input of the members would be solicited.

Announcements and Items of Interest

Dr. Jordan then called the attention of the council to items that were available in their table folders, including:

Conflict of Interest

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

Review of Applications

Council reviewed 123 applications requesting $31,650,501. The applications included: 27 regular research grants, three pilot projects, 18 ethics grants, three center grants, four conference grants, 15 small business innovative research grants, three research career development awards, 149 applications in response to the RFA, and one continuing education training grant. A total of 81 applications requesting $19,437,332 were recommended for approval.

Adjournment

The meeting adjourned at 1:00 P.M. on Tuesday, September 23.

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

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Last Reviewed: March 2006