Should You Have A Choice To Know Your Incidental Findings?

Yesterday the American College of Medical Genetics and Genomics (ACMG) released a series of recommendations around incidental or secondary findings related to genetic tests (H/T ScienceInsider).  This attracted my attention for two reasons:

  • The Presidential Commission for the Study of Bioethical Issues will be studying the ethical implications of incidental findings
  • Two Scientific American blog posts appear to disagree  as to the meaning of the recommendations.  (This likely means the recommendations are just hard to effectively distill into short articles.)

Incidental findings refer to discoveries made in the context of looking for something else.  Consider it the testing equivalent of finding out that an experiment to test one hypothesis managed to prove another.  Genetically speaking this would be something like getting tested for abnormalities on one chromosome, and finding something odd on another chromosome.

The recommendations give additional details to a policy statement issued by ACMG in 2012.  But the recommendations move beyond an acknowledgement of incidental findings to an encouragement of seeking them out.

The recommendations include a list of mutations that the ACMG working group believes labs should report – whether or not they were the focus of the genetic testing.  In other words, the patient doesn’t get to decide not to know the test results.  The working group deems the potential for harm to be greater than patient autonomy.  Arguably that suggests the ACMG group puts a bit more faith in the predictive power of these test than what I have understood to be the conventional wisdom.

These guidelines do not necessarily mean that anyone getting a genetic test would be automatically tested for everything on the list.  The specific tests that were ordered will influence the range of potential incidental findings.  The incidental findings should be reported regardless of the age of the patient.

This list, and presumably the recommendations, should be reviewed on an annual basis.  My suspicion is that there is going to be a lot of discussion on what is a shift in thinking over disclosure of genetic information.  We still don’t have everything figured out about how the genetic abnormalities work, and positive test results don’t guarantee a disease.  They usually just make it more likely.  In any event, the guidelines encourage pre- and post- test counseling for all.

Regardless of how the recommendations are received publicly, the Bioethics Commission now has more material to work with when it tackles the issue of incidental findings.

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2 thoughts on “Should You Have A Choice To Know Your Incidental Findings?

  1. Pingback: For Genome Sequencing, 20 Years Could Go By Really Fast | Pasco Phronesis

  2. Pingback: Medical Group Changes Mind On Incidental Findings | Pasco Phronesis

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