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Chunk #11 — WORKING GROUP CONSIDERATIONS — The Clinical Utility of Incidental Findings

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
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The Working Group elected to present recommendations in the form of a “minimum list” of incidental findings to report from clinical sequencing. While all of the disorders are rare, most of these genes and variant categories were selected because they are associated with the more common of the monogenic disorders, and because the Working Group reached a consensus that they met criteria described below. The Working Group specified a set of disorders, the relevant associated genes and certain categories of variants that should be reported, based on a consensus-driven assessment of clinical validity and utility. Where evidence was lacking, the Working Group drew upon the clinical judgment of its members. The Working Group acknowledged that its membership (and the ad hoc reviewers listed in the Appendix) were not always in complete agreement, could not fully represent the opinions of others in the field, and did not have detailed knowledge of all of the conditions that were considered.