National Association of Medical Examiners Position Paper: Retaining Postmortem Samples for Genetic Testing

Abstract

Sudden unexpected death is typically diagnosed in infants, children, teenagers, and young adults following completion of an autopsy that fails to identify a cause of death or when autopsy suggests a potentially genetic cause of death in an individual less than 40, such as cardiomyopathy or aneurysm. Such deaths may be a result of genetic abnormalities that are unable to be diagnosed by gross or microscopic inspection, but may be detectable by molecular studies. Unfortunately, the ability to perform postmortem genetic testing is frequently hindered by lack of an appropriate specimen following completion of an autopsy. This paper provides recommendations developed by the National Association of Medical Examiners with the assistance of genetic counselors. The recommendations establish procedures to facilitate postmortem genetic testing and DNA banking by health care professionals assisting families who have experienced sudden death in young relatives by clarifying proper sample acquisition and storage. Additionally, recommendations for discussion with surviving family members and test planning are provided. The objective of these recommendations is to ensure that postmortem samples suitable for DNA banking are retained, allowing at risk family members improved detection of potentially treatable genetic diseases.

Something Old, Something New

“…68 The National Association of Medical Examiners (NAME) recommends saving blood samples from the victims of sudden and unexpected deaths who are less than 40 years old for the purpose of potential genetic testing and DNA banking for future genetic testing. 69 If a sample is properly stored, genetic testing panels can be performed based on the diagnosis at autopsy or if the cause of death is unexplained.…”

The role of genetic testing in unexplained sudden death

“…The National Association of Medical Examiners suggests circumstances in which such specimens should be saved, detailing DNA preservation standards and appropriate counseling of relatives in the context of SCD. 117 FFPE should therefore be avoided to allow consistent DNA sampling and more favorable diagnostic yield.…”

Lessons learned from testing cardiac channelopathy and cardiomyopathy genes in individuals who died suddenly: A two‐year prospective study in a large medical examiner’s office with an in‐house molecular genetics laboratory and genetic counseling services

“…Sudden death (SD) is any death occurring within an hour of the onset of symptoms, or (if death was unwitnessed) death after the individual was seen functioning normally within 24 hr of being declared deceased ("WHO International Classification of Diseases and related health problems 10th revision (ICD 10) version for "). The National Association of Medical Examiners (NAME) suggests that certain cases of SD should be considered suspicious for a genetic etiology, including cardiomyopathy, sudden unexplained death in individuals with a family history of heart disease or SD, and any death that is sudden with no clear cause (Middleton et al, ).…”

“…The National Association of Medical Examiners (NAME) suggests that certain cases of SD should be considered suspicious for a genetic etiology, including cardiomyopathy, sudden unexplained death in individuals with a family history of heart disease or SD, and any death that is sudden with no clear cause (Middleton et al, 2013).…”