Postmortem Genetic Testing

Postmortem Genetic Testing for SUDC Cases:

Postmortem genetic testing can play an essential role in identifying the cause(s) of death in cases where sudden and unexpected loss occurs. It can also help determine if blood relatives are at risk for genetic diseases or sudden death.

The Postmortem Genetic Testing Program is available to medical examiner/coroner offices and families that have an active/open investigation.

An active/open investigation refers to cases where the cause of death has not yet been determined, and the medical examiner or coroner’s office is still gathering information to fully understand the circumstances surrounding the child’s passing.

The SUDC Foundation recognizes that postmortem genetic testing is a vital and important part of a child’s sudden death investigation. We encourage families to speak with their medical examiner and or coroner about the importance and opportunity for postmortem genetic testing as part of their child’s investigation.

When appropriate, the SUDC Foundation recommends families explore options to receive postmortem genetic testing for their child as this type of testing could provide key insights about their child’s passing.

Some potential benefits of genetic testing include:

  • Uncover the Cause of Death: Allow the opportunity for genetic testing to uncover specific cause(s) of death.
  • Provide Peace of Mind: Help alleviate anxiety and provide possible closure for the family with a negative genetic test result.
  • Informed Decision-Making: Provide appropriate medical management for at-risk family member(s).
  • Support Ongoing Research: Option to take part in present or future research.

The SUDC Foundation is dedicated to supporting medical examiners and coroners who are actively investigating SUDC cases by removing barriers to accessing postmortem genetic testing, ensuring both professional and affected families have the support and resources needed for a thorough and comprehensive investigation.

I am a bereaved family member interested in postmortem genetic testing.
I am a medical professional interested in postmortem genetic testing.

What You Need to Know

What is Genetic and Genomic Testing?

  • Genetic testing looks for changes in a person’s DNA that can affect their medical care. This includes changes in specific genes or parts of genes that have known functions.  Genetic testing can also look for changes in genes that a person may have inherited from their parents.
  • Genomic testing examines a person’s entire set of genes, or genome, to look for variations that may affect their health, disease, or response to drugs.

What is Postmortem Genetic Testing?

Postmortem genetic testing is testing that is performed on a sample after an individual has died. The goal of postmortem genetic testing is often to try to identify the cause of death and/or identify if blood relatives are at-risk for a genetic disease or sudden death.

What is Whole Exome Sequencing?

Whole exome sequencing or WES is a genetic sequencing technique that analyzes a person’s DNA to identify changes that may be causing a medical condition. It is a widely used next-generation sequencing (NGS) method that involves sequencing the protein-coding regions of the genome.

How do I know if the medical examiner or coroner has a sample that will be viable?

Each office has a different policy that governs the samples collected and length of time a sample is retained. When that time is reached, samples are disposed of. To ensure the best chance for you to have your child’s sample tested, we suggest you ask the office what samples it has, how long they will be stored, how they are being stored and what preservatives are used.

Is Young (< 40 years old) Sudden Death Often Genetic in Origin?

  • Up to 50% of sudden cardiac death (SCD) victims under age 35 years of age have no warning signs or family history of SCD. 1
  • In approximately 30% of these cases there is no abnormality found in the heart on autopsy.
  • Recent studies demonstrate that genetic testing helps to identify inherited cardiac disease in 25-35% of cases of SCD in the young.
  • 15% of sudden infant death cases have been shown to have an underlying genetic cause.
References

1.  Tester DJ, et al. The molecular autopsy: Should the evaluation continue after the funeral? Pediatr Cardiol. 2012 Mar 33(3):461-70. Epub 2012 Feb 4.

2.  Behr 2003 et al “Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome.” Lancet. 2003 Nov 1, 362(9394):1457-9.

3.  Tan, et al. (2003). “Sudden unexplained death: Heritability and diagnostic yield of cardiological and genetic examination in surviving relatives.” Circulation. 2005 Jul 12;112(2):207-13. Epub 2005 Jul 5.

4.  Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, and Zipes DP. Heart Rhythm. 2011 Aug, 8(8):1308-39. HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)

If you have any questions, please contact the SUDC Foundation for assistance. The SUDC Foundation is here to help with any or all of this process.

Our efforts to raise awareness wouldn't be possible without the inspiration and enthusiasm of the SUDC community.

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