This brief provides an overview outlining what medical examiner’s and coroner’s offices should know about molecular autopsy.
This publication summarizes what medical examiner’s and coroner’s offices should know about molecular autopsy. Molecular autopsy and detection of inheritable pathogenic variants provide the MEC community with a unique opportunity to prevent future deaths by combining genetic test results with genetic counseling and proper follow-up care. Molecular autopsies can enable a more accurate determination of cause of death in cases where the scene investigation, medical records review, toxicological analysis, and autopsy procedures have yielded negative or inconclusive results or positive results that may indicate a genetic cause. Genetic testing panels can provide medical examiners and coroners (MECs) with an etiologically specific cause of death, provide more precise answers for surviving family members, and be a point of intervention for survivors to pursue further testing and prevent future sudden deaths. Knowing which variants are detected in the decedent can help guide genetic counselor recommendations for future testing, including which relatives may be highest at risk because of the variants’ inheritance patterns, and assist physicians in providing more precise medical care and monitoring recommendations for patients who have a higher predisposition of developing conditions that cause sudden death. Traditionally, the cost of postmortem genetic testing ranged in the $1,000s per sample (i.e., a cost too high for most MEC offices or surviving family members to consider). Although some laboratories performed postmortem genetic testing, suitable samples were not always retained at autopsy for instances when surviving family members decided to pursue follow-up testing. However, advancements in DNA technology have reduced costs and increased laboratory testing capabilities. Furthermore, with MEC offices following proper sampling procedures established by the National Association of Medical Examiners (NAME), these traditional deterrents of postmortem genetic testing are becoming less of a hurdle and more MEC offices are looking to implement molecular autopsy into their standard operating procedures.