Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
Human Genome News; September 1991; 3(3)
The NIH-DOE Joint Subcommittee on the Human Genome and the NIH Program Advisory Committee on the Human Genome (PACHG) met in Bethesda, Maryland, on June 25. Discussions at the subcommittee meeting centered around policies for joint meetings with PACHG, future meeting dates, and reports on working groups and international genome programs.
The afternoon PACHG meeting included discussions on training, physical mapping, and genetic test evaluation. [See list of each meeting's attendees; for a list of subcommittee and PACHG members and their affiliations, see HGN 2(3), 7 (September 1990) and HGN 3(1), 9-10 (May 1991).]
The subcommittee discussed the agenda for the joint DOE-NIH staff retreat in California and heard reports from the joint working groups.
Dieter Soll (Yale University) presented the Joint Informatics Task Force report. He summarized the group's recent efforts, emphasizing that its organization has improved as its purpose has been refined. He attributed this improvement particularly to the efforts of David Benton (NCHGR) and Robert Robbins (Johns Hopkins University) in his role as DOE Human Genome Program informatics detailee while at the National Science Foundation. The working group established a January 1992 target date for production of a resource report defining the scope and nature of genome informatics.
Nancy Wexler highlighted the report of the Working Group on Ethical, Legal, and Social Issues (ELSI) related to data produced in the Human Genome Project. She noted that grants for pilot projects in cystic fibrosis (CF) testing would be awarded soon. Wexler detailed four major ELSI working group priorities:
The ELSI Working Group has created an insurance task force to consider insurance practices related to CF and will be reviewing privacy issues. After Wexler discussed the Americans with Disabilities Act of 1990, the subcommittee agreed to make a statement consistent with ELSI Working Group recommendations to the Equal Employment Opportunity Commission, which will interpret and implement the act (see ELSI Working Group Statement). Subcommittee members also discussed NIH and DOE regulations governing such statements about legislation and regulations; although NIH and DOE cannot present comments, individual advisory groups may do so.
Subcommittee members asked about various mapping workshops in the United States and abroad. Elke Jordan noted that a chromosome workshop summary was included in the handout material, and Benjamin Barnhart reported on an upcoming mapping workshop on chromosome 16 in Adelaide, Australia.
Members generally agreed that model-organism mapping and single-chromosome workshops have had a measurable impact on mapping standards. Phillip Sharp suggested that an annual report be produced to summarize progress in mapping individual chromosomes.
Mark Guyer (NCHGR) noted that grants for mapping index markers have been awarded by NCHGR and investigators have begun their projects. [For a list of projects and awardees, see HGN 3(2), 1-2 (July 1991).] He also reported on the first meeting of the NCHGR Framework Map Collaborative Working Group.
Verne Chapman (Roswell Park Cancer Institute) presented the report of the Joint Working Group on the Mouse [see HGN 3(2), 4-5 (July 1991)]. He said the mouse's main strengths are its inbred strains representing defined fixed genotypes and the large number of recombinant inbred strains. Mouse genetic mapping resources are equivalent to fully informative human families for almost any functional gene under study, Chapman said, necessitating ongoing communication between the mouse genetic research community and human genome mappers.
Michele Durand (Science Attache, French Embassy) explained the structure and organization of the French human genome research program. She noted that the first French human genome laboratory was to be established this summer in Paris.
Bronwen Loder [European Communities (EC)] said the EC genome program Eurogem has called for research proposals in three research areas; the EC commission is investigating the limited response in the informatics area. She announced that the new Biomedical and Health Research Program should be approved in the fall of 1991 and would continue through 1994. Questioned about patents for cDNA sequences, Loder explained that EC provisions prohibit exclusive rights to a particular cDNA sequence.
Charles Cantor reported on the restructuring of the Human Genome Organization (HUGO) to establish an office in Moscow (see article HUGO Establishes Office in Moscow). The major mission of HUGO-coordinating worldwide single-chromosome mapping-would merge HUGO activities with the organizational and committee structure of the human gene mapping workshops. Cantor noted that reasonable workshop locations would be geographic areas where the majority of research on specific chromosomes is taking place.
David Lipman [National Center for Biotechnology Information, National Library of Medicine (NLM)] outlined various cooperative ventures, including genome research activities, being pursued by NLM. He said that NLM would assume responsibility for GenBank® in 1992 and that the transition is progressing smoothly.
David Galas (DOE Human Genome Program) updated the subcommittee on the DOE cDNA initiative; $1.4 million has been devoted this year to six initial cDNA projects, which emphasize generating cDNA libraries and sequence tagged sites (STSs) and mapping and sequencing cDNAs. He also reported that the U.S. House of Representatives and Senate have approved the requested 1992 DOE budget of $59 million for its Human Genome Program.
Galas briefly highlighted recent DOE activities, which include substantial progress in physical mapping, informatics, and technology development. Anthony Carrano (Lawrence Livermore National Laboratory Human Genome Center) said that the chromosome 19 map is about 70% (41 Mb) covered in cosmid contigs. Robert Moyzis (Center for Human Genome Studies, Los Alamos National Laboratory) reported that a 90% coverage (90 Mb) of chromosome 16 has been achieved, with closure anticipated in the next few years (2-Mb contigs, 0.1-Mb spacing of STSs).
Paul Berg, the new chairman of NIH PACHG, welcomed participants. Elke Jordan (NCHGR) reported on several items of general interest as well as the NCHGR budget, which is awaiting action from the Senate. The House approved an NCHGR budget of $93 million, down from $110 million requested by the President. She noted that the budget cut was designed to maintain the current level of program activity and included a cost-of-living increase.
Jordan stated that the disappointing response to a recent training grant solicitation might be the result of several factors, such as lack of information and relatively low stipends. Bettie Graham (NCHGR) also noted the small number of respondents as she outlined recent training activities and described various institutional training grant awards. Graham asked PACHG members for input on possible training course topics, emphasizing that the purpose is rapid introduction of new laboratory technology.
Jordan explained the purpose and objectives of the new K01 career award, and PACHG members approved a concept paper that Graham presented for a solicitation on a Special Emphasis Research Career Award (K01). Graham expressed the hope that the $50,000 annual stipend would attract qualified applicants from nonbiological disciplines.
The committee noted that the NIH-DOE Joint Mapping Working Group needs to meet soon to discuss physical and genetic mapping progress; Sharp stressed the need to establish some standard by which mapping progress can be measured.
Eric Juengst (NCHGR) discussed genetic testing evaluation for CF and enumerated six research areas for consideration: public understanding of the issues, optimum pretest education levels, effective posttest counseling, optimum test settings, confidentiality concerns, and test accuracy and cost-effectiveness.
PACHG also received an update on CF activities and discussed the status of p53 testing.
1992 PACHG, Subcommittee Meetings Planned for January 3-4 and June 22-23.
NIH-DOE Joint Subcommittee on the Human Genome*
Cochairs: Paul Berg and Sheldon Wolff
NIH Program Advisory Committee on the Human Genome*
Chair: Paul Berg
*Members attending meeting.
The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v3n3).
The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.
Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.