Human Genome Project History

Human Genome Project (HGP) History (a personal account)

The HGP "began" at three meetings in 1984-5: Alta UT, Santa Cruz CA, and Santa Fe, NM. I was the only person present at all three meetings. Initially stimulated by RNA sequencing by Jack Nichols at Duke, I began dreaming of (affordable) genome sequencing when Wally Gilbert gave a seminar at Duke in 1976 on a new DNA sequencing method (published in 1977). I got serious about mammalian genome-scale issues in research leading up to our 1984 "Genomic sequencing" paper.

The Alta Summit, December 1984 (Genomics, Oct 1989, by Robert Cook-Deegan)

Delehanty J, White RL, Mendelsohn ML. Mutat Res 1986 May;167(3):215-32. Approaches to determining mutation rates in human DNA.

In 1986 DOE launched its "Human Genome Initiative". The "OHER Research in Progress: FY 1988" lists three sequencing technology "offsite contractors": Richardson (Harvard), Church (Harvard), and Gesteland/White (U. Utah). The NIH and other agencies became involved soon thereafter. I helped establish three of the first NIH HGP centers in 1990: Whitehead, GTC & Stanford Sequencing Centers). These teams contributed to the first human genome sequence. The GTC team produced the the first genome sequence sold commercially (1994) and (as part of Agencourt) is now the largest commercial DNA sequencing group and the only commercial NIH genome sequencing Center.

In the process, the internet has played a huge role in the HGP. For example, see: "assemblies of greater than 1 Kb would be released automatically on a daily basis." , NCBI , Distributed Annotation System (DAS), and our experience.


The present & future

Is the human genome finished? See Sanger Inst FAQ & NHGRI-FAQ. The latest genome version (Oct 2004) still has 341 gaps including 1% of the "gene-containing portion" of the genome and 7% of the genome so far described as "the rest". It is an imaginary "haploid" mixture of alleles, rather than a true diploid and furthermore the phenotype of the individual(s), e.g. RPCI11 is unknown.

Our group has also pursued "genomic sequence comparisons" (the title of my 1987-2003 DOE grant) and "functional genomics - systems biology" approaches to determine the meaning encoded in the many (complete and incomplete) genome sequences that we now have, and to engineer useful new "omics"-based technologies.

We have also been championing a Personal Genomes Project (PGP) and the technologies to make it affordable ($1K per genome). Our "genomic sequencing" in 1984 lead to "multiplexing" in 1988 then "Polony Sequencing" in 2003. Now is a good time to find ways to help volunteers who wish to make their genomes and phenomes publicly accessible, as well as individuals requesting strong privacy.

For additional background see Scientific American book "Understanding the Genome".


The 1984 Alta meeting: "DNA methods for Mutation Detection" 16 participants: Ray White (U. Utah), Mort Mendelsohn (DOE-LLNL), John Delehanty (Burrough Wellcome), John Mulvihill, James V Neel (U. Michigan), David A. Smith (DOE), Elbert Branscomb (DOE-LLNL), Tom Caskey (Baylor), David Botstein (MIT), Sherman Weissman (Yale), Lee Hood (Caltech), Maynard Olson (Wash U), Ed Southern (U. Edinburg), George Church (Harvard/Biogen), Charles Cantor (Columbia), Leonard Lerman (Genetics Inst.), Rick Myers (Harvard).

1984 Alta Meeting

1985 Santa Cruz Meeting