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Chunk #34 — DISCUSSION

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
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The Working Group recognizes that there is a wide range of opinions about what constitutes incidental findings in clinical sequencing and how they should be managed. On one side are genetic libertarians who feel that patients have the right to full and complete accounting of all possible risks conveyed by both established and novel variants, or even variants of unknown significance in disease genes. On the other side are genetic empiricists who believe that there is insufficient evidence about the penetrance of most pathogenic variants in the general population to warrant the sharing of any incidental findings, and that it is irresponsible to create the psychological burdens of being a “patient in waiting”35 or to expose patients to iatrogenic harm of possibly unnecessary surveillance or diagnostic testing. An argument is sometimes made that if the search for incidental findings were warranted, then it would follow that broad-based population screening should be advocated. In reality, seeking and reporting of incidental findings represents a form of “opportunistic screening”36 that has a long history in clinical medicine. When patients complain of symptoms in