Assessing medical examiners' current practices in utilizing genetic testing for autopsy-negative sudden unexpected death in the young (SUDY)

The advent of genetic testing offers a new opportunity to explain an unexpected death in which a medical autopsy reaps no answer; a genetic autopsy. The study's purpose is to explore medical examiners' current practices and identify obstacles in retaining samples for and facilitating genetic testing, knowledge of the medical genetics community as a resource, and to contribute insight that may help modify current guidelines for genetic testing in Sudden Unexpected Death in the Young (SUDY). An online survey explored medical examiners' personal experiences, practices, and opinions surrounding genetic testing in autopsy-negative SUDY cases for those 40 years of age and younger. National Association of Medical Examiners (NAME) members involved in autopsy investigation as a medical examiner or board certified forensic pathologist in the last five years where eligible to participate. Seventy-one medical examiners and forensic pathologists from various states across the U.S. and Canada participated. Practices for sample retention were inconsistent, and only a minority of participants requested or facilitated genetic testing in all cases of autopsynegative SUDY (5%). This study found significant barriers to offering genetic testing in SUDY cases, with 92% of participants citing at least one barrier- the most common of inadequate funding (80%). The majority of participants were not opposed to the integration of genetic testing to the standardized work up for these cases, with 40% of participants reporting it should be, 43% reporting maybe, and 17% opposing the standardization. Only 18% of participant felt very knowledgeable about the role a genetic counselor could play in facilitating the post-mortem genetic testing process, with 13% of participants reporting no knowledge. While most medical examiners have had recent experience in requesting or facilitating genetic testing in at least one case of autopsy-negative SUDY, inconsistencies and barriers in practice exist. Important themes to improve family care are adequate funding systems and increased knowledge and communication between medical examiners and the medical genetics community.