Genomes for sale
Incrementally, the cost of real whole-genome sequencing is coming down. Recently, the New York Times reported that Stanford engineer Stephen Quake had fully sequenced his genome for about $50,000-not exactly peanuts and so still unaffordable for most of us. He adds his genome to the other seven individual human genomes fully sequenced to date, but his has the honor of being the cheapest. While we may not be getting our promised individualized genome chips from our doctor’s office yet, it should still be on our radar. Twenty years ago (even ten years ago) we might have said that the idea of widespread genome profiling was geneticists’ fantasy but (perhaps) not today.
Many problems still persist, including costs as well as more technical (scientific- and research-oriented) concerns. Common disorders are proving themselves to be more resistant to science’s dominant quest to order, control, and manipulate them (more than anticipated) through genomes. And if one follows the legal, ethical, and social news stories, individuals, groups, and populations are proving themselves just as difficult, it seems.
Still, the unrelenting desire from many in science (especially genetics and bioinformatics), industry (especially biotech, biopharma, and the information sciences), and the political realm (including the incumbent president) to pursue personalized genomic medicine (PGM) is yielding massive infrastructure building to make PGM so-from research funding and agenda setting, to education (especially for physicians), to language and policy making—to advantage the public and especially the private sectors. PGM is less fantastic these days, but it’s not fair to say that it’s really here yet.
Unfortunately, given the vast amounts of public monies and efforts that have gone into and continue to go into clearing the path for PGM, there has been little real public engagement about its implications. This lack of communication can prove more problematic than many of its evangelists would like us to believe.
One concern is that the lines between what constitute research problems and what constitute social problems are rapidly blurred. A case in point is the National Human Genome Research Institute’s decision to continue to limit data sharing. This policy began when researchers from Arizona’s Translational Genome Research Institute found a way to identify individuals from pools of 1000+ DNA donors.
Experts are beginning to conclude that full anonymity may not be possible, yet large-scale human-population biobanks are a necessary component—if not the backbone—of PGM as currently imagined. For individuals and populations, especially those with limited resources, who must deal with payers, and for minority populations this is not a trifling concern. It shouldn’t be a surprise that many in these groups of the general public are skeptical and reluctant to participate in population biobanking, especially when outreach to publics can often seem to be a strategy used more to convince and sell than to engage.
Public engagement means more than selling and scientific factoids and priming the public for PGM uptake. It means dialogue-real conversation-not only on the possible benefits PGM may have for health care but also on the real challenges and messy problems it may (have) engender(ed) as the boundaries between laboratory and lived social world, private and public, individual and group become increasingly blurred.