In my presidential address at the Annual Meeting in June, I spoke about the perils and promise of the new genomic era, and our need as a profession and as a professional society to deal with the challenge. Two recent posts on the same subject, just put up online at Slate, are well worth your reading. The articles arise from Future Tense, a collaboration of Arizona State University, the New America Foundation, and Slate.
In one of them, Christopher Mims discusses the Food and Drug Administration’s confusing stance on genomic testing. New medical technologies always run in to the problem of inadequate or inappropriate regulation. The FDA is a rules-based, precedent-based organization. It has to be to function. But when there are no appropriate precedents (single gene testing differs from whole genome testing not just in quantitative but in qualitative terms) the agency tends to flounder. This problem is compounded, as Sims points out, by paternalism: like Jack Nicholson in A Few Good Men, the basic governmental response to the idea of patient access to genetic data is one of “You can’t handle the truth!”
In the other post, Gary Marchant and Rachel Lindor discuss the legal aspects of the genomic revolution. Doctors are regularly sued for “failure to diagnose”: if you don’t get a mammogram when a woman notices a breast lump, or fail to get a biopsy on an equivocal mass seen on a mammogram, there is always a lawyer there to remind you of the error of your ways. The lawyers are already salivating over their prospects in the new genomic era, where the formerly obscure genetic abnormality, previously impossible or absurdly difficult to test for, will become trivial and commonplace.
Failure to test for an inherited abnormality might get you sued in the genomic era. But testing might get you sued: we each have large numbers (hundreds?) of variants that predispose us to this or that medical condition. If you test, discover a variant that increases the risk of developing a particularly disease by 50%, and then fail to accommodate your medical plan to that increased risk, are you an incompetent physician deserving of a lawyer's tutorial?
Before you say yes, recognize that a 50% increased risk of breast cancer is what a woman gets by drinking a glass of wine every night, the same glass of wine that lowers her risk of a heart attack. I might need several glasses of wine per night to wrap my head around these issues. No one is smart enough to balance all of these variants in their mind for every patient: this will be a massive computational problem, frequently involving soft data sets with small numbers of patients.
We must deal with this challenge as a profession. The concept of the Rapid Learning System--wherein patient data from multiple sources (inevitably including host and tumor genomics) is combined, used to provide decision support in real time, aggregated with data from other patients and becomes part of ongoing quality improvement--is a new and important initiative for ASCO.
You can view genomics as something threatening or something exciting or both. What we cannot do is ignore it: the great tsunami of data draws ever nearer.