Postmortem Genetic Testing Is an Increasingly Utilized Tool in Death Investigation.

Area of Science:

• Genetics
• Pathology
• Forensic Science

Background:

• Postmortem genetic testing (PMGT) is crucial for identifying causes of death and inherited conditions.
• Successful PMGT relies heavily on the quality and type of biological specimens obtained.

Purpose of the Study:

• To analyze referral data for PMGT to understand testing patterns and success rates.
• To identify optimal specimen types for successful postmortem genetic analysis.

Main Methods:

• Data from 601 postmortem referrals for genetic testing were collected and analyzed.
• Referrals were stratified by provider, specimen type, and genetic tests ordered.

Main Results:

• Arrhythmia and cardiomyopathy were the most common genetic tests ordered.
• A pathogenic variant was identified in approximately 15% of cases.
• Blood in EDTA specimens yielded a 95% success rate for PMGT.

Conclusions:

• Increasing utilization of PMGT necessitates optimized sample collection and handling.
• Education on appropriate specimen types, storage, and shipping is vital for maximizing PMGT success.
• Enhanced access to resources is required to broaden the availability and application of PMGT.