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Vol. LXIII, No. 1
January 7, 2011

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Harvard’s Church Touts Output of Personal Genome Projects

There is something distinctly American about the way Harvard geneticist Dr. George Church approaches the world of genomic sequencing, which he helped invent. At a talk in Masur Auditorium on Dec. 8, his first slide introduced him not only as an innovator, but also as an entrepreneur; the array of .gov, .edu, .org and .com affiliations he displayed spoke of a new Manifest Destiny— everyone from the garage biologist to the medical center superstar is welcome in his milieu, as long as they’ve got a serious oar in the water.

“We are trying to develop basic enabling technology that will impact all of the NIH institutes,” he said. About 5 percent of the human genome is currently missing and has never been sequenced, he noted. “We still haven’t sequenced a full human genome.”

What’s missing is not trivial, either, he said; the likely cause of multiple sclerosis may be in the gaps.

The cost of sequencing has shrunk a million fold in the past 5-6 years, he said, resulting in massive accumulations of data that are challenging our “digestive capabilities.” It now costs about $7,000 to get 95 percent of the human sequence, and the $1,000 genome is in sight due to innovations since 2005 that are exceeding Moore’s law by a factor of 10.

Especially interesting to Church at the moment are small-cohort studies, sometimes involving as few as 1 to 20 people, that are “yielding very exciting, very medically causative and significant alleles of genes.”

At the moment, some 2,227 genes are both highly predictive of disease and medically actionable, he said. “Not everything about genomics is actionable— this is a work in progress,” he cautioned.

Human beings differ from one another by about 3 million sequences, on average. To plumb more deeply the consequences of those differences, Church touted an open-access, and emphatically democratic, model of investigation termed GET: Genomes plus Environment equals Traits. The volunteer-based personal genome project has so far enrolled more than 13,500 people internationally, who submit samples and family histories that are studied by teams of scientists.

Church described several cutting-edge sequencing technologies (one relying on the “polony exclusion principle,” the other on ion torrents and nanopores) that are enabling researchers to realize such advances as detecting rare cells, performing in situ sequencing and finding point mutations that lead to multi-drug resistance.

The virtue of the various personal genome projects going on worldwide, he said, is that they tend to be very low cost but also high quality.

Church predicts that “self-monitoring could be the next big wave in consumer electronics…it will be like cell phone use; it will initially start with wealthy people and work its way down.”

Perhaps by next holiday season, people will find Church-inspired DNA kits under the tree.— NIHRecord Icon

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