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In Reply I agree in principle with the comments from Dr Schrodi that there remains a large degree of uncertainty between the observation of rare pathogenic variants for rare diseases and their ultimate attribution as the cause of sudden death. In the study, these potential connections were labeled as “speculative”; therefore, they should not be interpreted as the genetic cause of death with any degree of certainty, and accordingly, were not included in the summary discussion of the likely or plausible diagnostic yield of the study. Rather, the intent was to highlight potential expansions derived from exome sequencing to genetic causes of sudden death beyond the usual suspects (genes related to sudden cardiac death) that are typically included in clinical panel–based testing.
Torkamani A. Postmortem Genetic Testing for Sudden Unexpected Death—Reply. JAMA. 2017;317(3):321. doi:10.1001/jama.2016.19277
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