Approximately 11,000 individuals in the United States under the age of 45 years die suddenly and unexpectedly from conditions whose first noticeable symptom can be death. Across all age groups, these conditions account for approximately 300,000-400,000 deaths in the US per year, and contribute significantly to the rate of autopsy-detected diagnostic errors. Yet, the rate of clinical (vs. forensic) autopsy has plummeted from ~50% of deaths fifty years ago to less than 10% of deaths at present. As a result, living relatives of the deceased are often left with an inaccurate cause of death and therefore an ambiguous family health history. Molecular autopsy (i.e. genome sequence-based genetic diagnosis of the cause of death) has the potential to provide an accurate cause of death and family risk information. We’ve initiated the first systematic and prospective, family-based, molecular autopsy study, jointly organized by a medical examiner office and an academic center, to appraise the type and confidence of genetic findings that can be expected when molecular autopsy is applied to a relatively broad population.
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