genomics & society

Update from the ACMG Meeting in Charlotte

Posted by Myra I. Roche on March 28, 2012

Although off to a slow start, the pace of the ACMG meeting has begun to rev up as the participants begin to round the second lap.  But if the finish line is analogous to reaching a consensus about reporting results from whole exome or whole genome sequencing, it is clear that several laps remain.   Cars, I mean, participants were jockeying for position in the open forum session last night

which featured a vigorous debate as people grappled with the nitty-gritty details underlying the decision to report incidental or secondary results.  Many in the audience steadfastly clung to the fantasy of presenting patients with an a la carte menu, allowing them to pick and choose the type of result they want while others took an “all or nothing” stance.  One suggestion was to view WES/WGS not as a “test” but rather as a technology.  The “test” would be a specific query of the data analogous to requesting a test for a specific indication.  A new query would mean, a “new test”.   This approach could, at least, make some headway in addressing concerns about reimbursement rates for genetic professionals which have been historically poor.

One can’t help but observe that everyone seems to be jumping into the lifeboats to avoid responsibility for the time-intensive, poorly-reimbursed, albatross, the downstream flotsam resulting from testing; namely, the pre and post-test counseling (last estimated at 6-10 hours) and the responsibility for contacting patients and physicians as new interpretations evolve.   Why not impose a surcharge on the test “price” that includes the interpretation and counseling analogous to the surcharges imposed on airline fees?   Should companies that offer WGS be required to post the caveat: “interpretation, not included” or “additional charges may apply”?

Several speakers have shown a slide of  a surfer in the midst of a monstrous wave as an analogy to the tidal wave of WES data about to engulf those of us who practice in clinical genomics.   While some seem to be exhilarated by the challenge, others are wondering just how far out to sea the technology is taking us.

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