Coverage of Whole Genome Sequencing in the Affordable Care Act

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Perhaps no field better exemplifies the diagnostic promise of advanced technologies — and the possibilities for hype and disappointment — than advanced genetic screening and the accompanying aspiration of personalized genomic medicine.This issue's Point-Counterpoint concerns the promising but complex technology of whole genome sequencing (WGS). The prospect of a thousand-dollar WGS brings such advanced technologies potentially into the realm of everyday clinical care.Our Point essay by Perry Payne of George Washington University argues that WGS should be reimbursed, without patient cost sharing, under provisions of the Patient Protection and Affordable Care Act (ACA). Noting the potential medical and public health benefits associated with WGS, Payne suggests that the ACA can be used “as a tool to prevent disparities in access to genome information in the United States and avoid the development of a two-tiered health system based on those with and without genome sequence data.”Wisconsin bioethicists Pilar Ossorio and J. Paul Kelleher dissent from this view. Their Counterpoint argues that the likely clinical utility of WGS is less favorable than Payne suggests. They also suggest that the proliferation of such technologies is likely to be cost-ineffective: they express the fear that “we will soon have the thousand-dollar genome sequence and the hundred-thousand-dollar genome analysis or the million-dollar clinical interpretation.”I will let readers draw their own conclusions regarding these two provocative essays. I have written on one corner of this debate myself (Pollack 2010), in the context of newborn screening for conditions such as fragile X syndrome. That experience leads me to two points, which I suspect all three authors would embrace.First, new technologies are arriving fast. This past month, I mailed off a vial of saliva to 23andme.com. For ninety-nine dollars, the firm provides key information such as whether one is a carrier for BRCA mutations. Millions of Americans (particularly the most educated and affluent) will make increasing use of such services, whatever the preferences of medical experts or policy makers.Second, neither the care infrastructure nor the American public is prepared to assimilate the trove of useful, useless, or even harmful information likely to emerge through the proliferation of new genomic technologies. We aren't ready, however one resolves the issues engaged by this current Point-Counterpoint debate.