About Genetic Counselors

POSTMORTEM GENETIC TESTING FAQS

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. 

Genetic tests are a group of medical tests that search for alterations in chromosomes, genes, or biochemical metabolites.  There are numerous different genetic tests and choosing the appropriate test depends upon an individual's medical and family history.  Typically, genetic testing is ordered by a genetics specialist.  The gold standard for molecular genetic testing is EDTA blood or fresh frozen liver. 

Once an individual has died, additional issues are introduced which can make the genetic testing process more difficult.  Most commonly, these issues include sample collection/storage, insurance coverage and cost.

Young (< 40 years old) Sudden Death Is 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.1,2,3
  • 15% of sudden infant death cases have been shown to have an underlying genetic cause.4
  • Post mortem genetic testing in sudden death cases is recommended by the Heart Rhythm Society and the European Heart Rhythm Association.4

Why Should I Save a Sample?

The National Association of Medical Examiners (NAME) recommends retaining appropriate post mortem samples for genetic testing. In addition, genetic testing can:

  • Identify or confirm the cause of the death.
  • Confirm a suspected diagnosis.
  • Provide the family with an explanation and closure.
  • Allow other family members to be tested for a specific genetic disease that may be treatable.

Without a proper sample, genetic testing cannot be performed on deceased individuals.

When Should I Save a Sample for Potential Genetic Testing?

What Samples Do I Save for Genetic Testing?

To find out more information about appropriate samples for testing please go to our samples page

How Much Does Postmortem Genetic Testing Cost? 

Genetic testing can be costly and is dependent upon the specific tests ordered. Cost of testing is determined by the laboratory. Coverage of testing through insurance can be difficult to secure and requires legwork by the ordering provider.  Third-party payment by including the cost of postmortem genetic testing in the autopsy fee has been a successful practice.

Sample Letters of Medical Necessity

Cardiomyopathy PM Genetic Testing
Autopsy Negative PM Genetic Testing

What Information is Important to Share With the Surviving Family Members?

  • Which sample(s) has been saved and how long it will be stored at the ME/coroner's office.
  • Potential costs associated with postmortem genetic testing.
  • This allows them to discuss the available options for the specimens with their managing physicians.
  • The sudden unexplained death of a family member may warrant a medical evaluation for surviving family members.
  • Example: If an inherited metabolic condition is suspected, then first-degree family members of the deceased individual could be advised to seek biochemical genetics evaluation.
  • Genetic counselors are available to speak with the family.
  • Genetic counselors can work with family members in a clinical setting to provide a risk assessment and help them navigate the available options for the saved DNA specimen.
  • Information for families about postmortem genetic testing

Who Do I Contact if I Have Any Questions?

If you have questions regarding post mortem genetic testing, you can reach the NSGC Postmortem Group by emailing postmortem@nsgc.org. A genetic counselor with expertise in post mortem genetic testing will reply to your email inquiry within 48 hours.

Genetic counselors have a unique set of skills which make them experts in guiding both patients and providers through the genetic testing process.  To help you navigate the post mortem genetic testing process you can find a cardiovascular genetic counselor on this map or contact either a cardiovascular or metabolic genetic counselor through using the Find A Genetic Counselor tool on the NSGC website and searching by the appropriate specialty.

Role of a Genetic Counselor

To learn more about the role of genetic counselors and the various fields of specialty please visit our healthcare provider's website.

Additional Resources

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)
  5. Middleton O, Baxter S, Demo E, Honeywell C, Jentzen J, Miller F, Pinckard K, Reichard R, Rutberg J, Stacy C, and MacLeod H. NAME Position Paper: Retaining Postmortem Samples for Genetic Testing. Acad Forensic Pathol 2013 3 (2): 191-194.
  6. MacLeod H, Demo E, Honeywell C and Rutberg J. Genetic Counselors: An Important Resource for Families Following a Young Sudden Cardiac Death. Acad Forensic Pathol 2013 3 (2): 183-190.
  7. Loughrey CM, Preece MA, Green A. Sudden unexpected death in infancy (SUDI). Journal of Clinical Pathology2005;58(1):20-21. doi:10.1136/jcp.2004.020677
  8. Mayo Medical labs Communique- The Metabolic Autopsy: Postmortem Screening in cases of Sudden, Unexpected Death

 

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