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Abstract:

Next generation sequencing technologies (NGS) such as whole genome, whole exome, and large panels of genes, are rapidly changing the paradigm of medicine. Widespread use of NGS carries with it many ethical and practical challenges, some of which persist despite considerable debate. Whether laboratories and clinics should report variants of uncertain significance (VUS) to clinicians and/or patients, reinterpret VUS in response to the growing knowledge in the field, reissue reports to clinicians based on any revised classifications, and recontact patients, are all key unsolved issues in the clinical use of NGS. In addition, the question of whether, and to what extent, unsolicited findings (also known as incidental findings) should be returned to patients following NGS remains unanswered. In this presentation, Danya will discuss these issues, drawing on data from a systematic analysis 58 consent forms being used in the diagnostic setting to investigate their policies.