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Chunk #19 — WORKING GROUP CONSIDERATIONS — Patient Preferences and Incidental Findings

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
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Even if preferences about receiving a limited set of incidental findings were accurately explained, carefully noted and clearly communicated to the laboratory, the laboratory would have to mask the informatics analysis of specific genes or ignore findings of potential medical importance in order to honor those preferences. All of this may be feasible in an environment where the laboratory is an interactive partner in the clinical assessment of a patient by clinicians skilled in genetics and genetic counseling, but will become increasingly unwieldy as clinical sequencing becomes more common and more commonly ordered by clinicians with varying levels of ability and experience in genetic counseling. Based upon these considerations, the Working Group did not favor offering the patient a preference as to whether or not to receive the minimum list of incidental findings described in these recommendations. We recognize that this may be seen to violate existing ethical norms regarding the patient’s autonomy and “right not to know” genetic risk information. However, in selecting a minimal list that is weighted toward conditions where prevalence may be high and intervention may