What's New in the Implementation of Postmortem Genetic Testing?-What's New in the Implementation of Postmortem Genetic Testing?

Video Transcription

Video Summary

The session on "What's New in Postmortem Testing" provides in-depth insights into the significance and process of postmortem genetic testing, primarily focusing on unexplained deaths, particularly in young people. Dr. Lisa De La Fede Castillo discusses the critical role of saving specimens for genetic testing in sudden or unexpected deaths, especially in individuals under 40. This testing can be crucial in determining if a genetic disorder contributed to a person's death, providing closure for families and identifying risks for surviving relatives.<br /><br />Dr. Lisa Gavin highlights the process from a medical examiner's perspective, illustrating the systematic implementation of postmortem genetic testing in sudden death cases. She provides a case study of a 12-year-old boy with left ventricular non-compaction cardiomyopathy, where genetic testing played a key role in understanding the death cause and guiding family health strategies.<br /><br />Rebecca McClellan elaborates on the logistical and emotional challenges of coordinating postmortem genetic testing from a clinical standpoint, emphasizing the importance of collecting samples promptly and communicating effectively with affected families.<br /><br />Heather McLeod concludes with insights into how this testing could influence public health, advocating for its integration into newborn screening to prevent future deaths. Despite the challenges of cost, sample retention, and insurance issues, the session underscores the critical need for postmortem testing in understanding genetic causes of sudden deaths and potentially influencing preventive healthcare strategies.

Keywords

postmortem genetic testing

unexplained deaths

sudden deaths

genetic disorders

family health

specimen collection

public health

newborn screening

cardiomyopathy

preventive healthcare