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Chunk #16 — WORKING GROUP CONSIDERATIONS — Limitations and Interpretation of Incidental Findings

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
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that laboratories utilize orthogonal techniques to search for these variants in the genes named in the minimum list. Thus, the Working Group recommended that laboratories evaluate these genes for the specified categories of variants to the extent that the available data from the genome or exome sequence allow. We did not recommend that labs insure a depth of coverage for these genes equivalent to molecular testing for a primary indication. Given these recommendations, the Working Group was concerned that a negative incidental findings report could be misconstrued by clinicians or patients as an assurance of the absence of a pathogenic variant, which is not always the case. To address this, we recommended that the report of incidental findings issued by the laboratory include distinct language differentiating the quality of the incidental findings report from the quality of molecular testing that would be conducted for a primary indication.