Sequencing from Starbucks and the not-so-patently obvious: Genome Biology attends ICHG 2011


Who owns your DNA sequence? "You do" might seem like the obvious answer, but it wasn't one that everyone attending the 12th International Congress of Human Genetics in Montreal could agree on.

In a debate on gene patenting, the conference heard how an astonishing 20% of human genes currently have intellectual property claims on them and how Myriad Genetics has had some success defending its patents on breast cancer genes BRCA1 and BRCA2 in the US courts (and, to a more limited extent, in the European Patent Office).

Even the 80% of your gene sequences that have escaped patenting do not belong to you, according to Radoje Drmanac of Complete Genomics, who espoused the view that genomes do not belong to sequenced individuals but to computers. Speaking in a debate on how clinicians can best adapt to the coalescence between high-throughput sequencing and personalized medicine, Drmanac was one of many to claim that patients should not be given access to their DNA sequence.

This coalescence was a notable feature of the conference, with many reports of novel mutations identified by high-throughput sequencing technologies. In particular, exome sequencing has made massively parallel sequencing accessible to a wide range of clinicians and researchers, due to the reduced cost relative to whole genome sequencing. To put a measure on this phenomenon, no less than 387 submitted abstracts were tagged with "exome/s" as a keyword. In light of this, it was no wonder that free copies of Genome Biology's special issue on exome sequencing were a big hit.

The expansion of high-throughput sequencing in the clinic looks set to continue at a rapid pace, thanks to new affordable "desktop" sequencers exhibited by Illumina (MiSeq) and Life Technologies (IonTorrent) – a development analogous to the appearance of IBM's personal computer.

A demonstration of MiSeq showed that it has been designed with a non-scientist user in mind – and maybe a lazy user, too, given that a smartphone app can provide real time updates while you sit out your sequencing run in the comfort of a coffee shop.

It is easy to imagine that every hospital and clinic in the developed world will have access to desktop sequencers in the not-too-distant future; for the developing world, a protoype of a handheld DNA sequencer was presented that uses nanowires for gene sequencing at a projected cost of $400 per device.

Controversies were not limited to genome ownership. Jim Watson caused a stir by branding swathes of humanity as "genetic losers". Michael Hayden, of the University of British Columbia, countered that "we are all brothers and sisters in genetic mutation" and that his greatest source of inspiration has been those who have borne their burdens of genetic disease with quiet dignity.

Controversial to this observer was Lynn B. Jorde's baffling decision to turn down an invited appearance on The Jerry Springer Show. Jorde's address as President of the American Society of Human Genetics (whose 61st annual meeting ran concurrently with the conference) discussed, in TV-friendly dulcet tones, his genetics education workshops run for the judiciary. Judge Robert Sweet, who heard the Myriad Genetics patent case in his court, may not have needed Jorde's help because, as fate would have it, his clerk at the time had a PhD in molecular biology (another former clerk was disgraced former New York governor Eliot Spitzer).

The 13th Congress will take place in Yokohama, Japan – but not until 2016; the 62nd meeting of the American Society, ASHG 2012, will be held next year in San Francisco. In the mean time, why not listen to Genome Biology's podcast on the sequencing of disease variants, which features discussions with Jim Lupski, Joris Veltman, Jay Shendure and Elaine Mardis on many of the themes central to this year's conference.

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