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NHGRI Balances Between Further Genomic Sequencing and Haplotype Map

BETHESDA, Md. – As the hype of the Human Genome Project winds down, federal researchers, eager for an encore, have begun to chart the course for the next decade of government-funded genomic research.

Francis Collins, director of the National Human Genome Research Institute, the government body that oversees the Human Genome Project, told an expert advisory panel here this month that the 16 centers of the international consortium that comprise the HGP would complete the final version of the human genome by spring 2003.

So the NHGRI's army of officials and advisors have begun to look at research that will take genomic science to the next level. They agreed on the haplotype map, which many scientists say represents the first practical step to bringing the human genome sequence into the realm of clinical medicine.

To be sure, the NHGRI does not have a budget with which it can begin building the map, and Collins stressed that his group’s project is still in the early planning stages. But he stressed there is “great interest” in the map from the pharmaceutical and biotech industry, and from academia, that might help propel the initiative. 

The NHGRI has so far appointed two working groups whose job it will be to advise the National Institutes of Health, its parent agency, on when funding for the projects should begin. One group will look at population as well as ethical, legal, and social issues associated with the haplotype map, while the other group will determine appropriate markers, the numbers and sizes of samples to be used, and which individuals or families should be asked to donate tissue samples.

But it remains too early to know when the project will begin, or even determine what its focus will be. “We’re just starting to plan,” said Lisa Brooks, a staffer with the NHGRI familiar with the haplotype map initiative.

Early draft guidelines for funding the map, for example, call for researchers to take genetic samples from several populations to ensure wide applicability. Experts also want federally funded mappers to guarantee that the data are rapidly released to the public.

Bread-and-Butter Research

Still, bread-and-butter sequencing continues to account for much of the NHGRI’s workload. About half of the institute’s $380 million annual budget goes toward comparative genomic research, according to Collins, which forces researchers to decide which organisms, from bacteria to apes, may receive limited sequencing resources.

“There are many more requests for doing the additional sequences … than we can meet at any one time,” said Mark Guyer, an NHGRI official who briefed the panel.

According to Guyer, the institute has decided to direct future sequencing funding to individuals or small groups that propose to answer specific biological questions through their research. Applicants for NHGRI sequencing funding will also need to convince reviewers that their sought-after animal sequence will have a direct bearing on the understanding of the human genome.

The NHGRI will select these sequencing initiatives twice a year through a system of peer-reviewed white papers submitted to it, the institute said. Officials said that reviewers will try to strike a balance between funding projects of bacteria that may be simple to sequence but might be only marginally helpful and supporting complex and labor-intensive mammalian sequences that could contribute directly to human health.

The NHGRI, which is overseen by the NIH, also said it is working on new standards governing data sharing among publicly funded genomic researchers. Centers participating in the Human Genome Project generally disclose their data within 24 hours of discovery, but new standards are unlikely to be as strict, officials conceded.

“Publication is the real standard by which data is put out there,” Collins said. Still, the agency may come up with exceptions for high-volume, discovery-driven projects or for research with an unusually high impact on scientific progress.

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