Question of the Year January 20, 2007

So after the competition, I get back to work. I love this kind of questions. Nature has asked 5 big names in genomics to weigh in on this question: What would you do if it became possible to sequence the equivalent of a full human genome for only $1,000?

• Francis S. Collins (National Human Genome Research Institute)

The real question is, “What wouldn’t we do?”…The aim of that endeavor would be to see what’s special about the genomes of healthy centenarians, and then to use that information to explore the genetics of good health and longevity in all humans.

• George Church (Harvard Medical School) – developed the first direct genomic sequencing method in 1984

If the equivalent of a complete human genome could be sequenced for only $1,000, then we should sequence all exons (also known as the ‘exome’) for $10—a bargain that the world could not afford to ignore ($60 billion for 6 billion people)… This might transform personal genomic medicine from a luxury to a birthright.

• Stephen J. O’Brien (National Cancer Institute) – Chief of the Laboratory of Genomic Diversity

First, I would gather $38,000 from a generous donor and get the sequence for one individual of each of the 38 species of cats. This would allow two things: first, a near-unlimited collection of SNPs or STRs to monitor the past, present, and future patterns of genome diversity in each species.

• Evan Eichler (University of Washington): – an expert in analyzing genomic duplications

I would be even more enthusiastic about technology that would allow >200,000 base pairs of contiguous sequence to be obtained directly from genomic DNA in a single pass…this would allow us to understand more complex regions of our genome such as segmental duplications, telomeres and centromeres as well as underlying individual variation.

• Jonathan Pritchard (University of Chicago) – develops new statistical methods for genetic analysis

First, it is clear that this will have a major impact in medical genetics. Though important in their own right, genome-wide SNP studies are largely unable to provide information about genes where low-frequency and even de novo mutations are important… As a parent, would I have my 3 year-old son’s genome sequenced to help determine his genetic liabilities (and strengths)?

Would you, dear readers? To be honest, I would…

A good catch from DNA Direct.