Evolution of a Molecular Autopsy Program from within a Death Investigation System

Abstract

The molecular autopsy has become an important adjunct to investigation of sudden cardiac deaths in individuals under 40 years of age. Consequently, this evolution in molecular medicine has led to significant changes in the evaluation of sudden cardiac deaths and vascular catastrophe in medicolegal death investigation systems. There is a recognition that increasingly detailed pathological examinations of the heart and vasculature are necessary, which must also be accompanied by retention of deoxyribonucleic acid (DNA) for possible genetic testing and communication that a possible heritable disease may be responsible for the unexpected death. Forensic pathologists are at the forefront of identifying possible cases of heritable disease and unless properly managed, surviving family members may not receive the opportunity for subsequent clinical evaluation or the diagnosis provided may be erroneous, with inappropriate labels placed on families. More than ever, forensic pathologists must be aware of the spectrum of heritable conditions that may contribute to death. This is necessary not only for natural deaths, but also in areas of classical forensic interest where a death has occurred under criminally suspicious means or following interaction with police involving struggle or restraint. Some genetic conditions are also recognized to cause changes that mimic inflicted trauma. This review outlines many of the issues we have considered in developing a molecular autopsy program and how processes developed at the time of postmortem examinations may be optimized to facilitate evaluation and treatment of surviving family members as well as enhance information provided to the courts.