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Giving patients an out
The American College of Medial Genetics announced this week that it is amending it’s recently published guidelines on the return of so-called incidental findings to patients (or their parents) who are undergoing whole genome or whole exome sequencing. The initial guidelines caused considerable controversy when they were released; several commentators (including me) published critiques of the lack of consideration of patient autonomy the guidelines offered. Perhaps most troubling was the recommendation that, in addition to the target of the sequencing, an additional 24 alleles linked to severe, life-threatening diseases should also be tested and that the results should always be given to the patient regardless of whether the patient wanted them or not.
Like many of my colleagues, I found this recommendation troubling. I am sensitive to the intent of the guidelines, which was to present a baseline set of additional tests that should be done when whole genome sequencing is already mandated for another cause. And I understand the strong moral obligation the physicians on the guideline committee felt to provide patients with potentially life-saving information. But, ultimately, it is a clear violation of an individual’s autonomy, the first, and some think most important, principle of the Belmont report, on which our clinical and research ethics establishments are built, to forcibly provide someone one with potentially life-altering information that they do not want. (Even my students unanimously decried the mandatory return of results and they haven’t even read the Belmont report.)
Fortunately, after what I understand was some intense debate at the annual ACMG meeting in Nashville, the ACMG have issued a revision to the guidelines which creates an opt-out for patients who don’t wish to receive the results from the additional list of severe conditions or don’t want to know that information about their children. I don’t expect many people to take the out, but it is important that they have the option.