Understanding Postmortem Genetic Testing: Answers for Families Seeking Closure

Cara Barnett, MS, CGC

When families face the loss of a loved one, especially someone young or under sudden, unexplained circumstances, the search for answers can be overwhelming. Postmortem genetic testing offers an opportunity to uncover potential genetic factors behind the cause of death.

Beyond providing closure, this testing can reveal vital health information for surviving family members, helping them make informed decisions about their own medical care and risks.

What is Postmortem Genetic Testing?

Postmortem genetic testing involves analyzing a person's genetic material after their death with consent from the next of kin (usually a spouse or child). Laws on this type of testing vary by state. Often called a "molecular autopsy," this testing can help identify genetic factors that might explain the cause of death or reveal important health information for family members.

When Is Postmortem Genetic Testing Recommended?

Postmortem genetic testing is recommended in scenarios such as:

• Sudden unexplained death (SUD), especially in individuals under 40 or when an autopsy doesn’t provide clear answers
• Deaths with a diagnosis from autopsy that may have a genetic cause
• Cases where individuals had known genetic conditions but were never tested

Common Examples Where Testing May Help

Postmortem genetic testing can offer insights in various situations. For example:

• Autopsy findings of an aortic dissection may reveal a hereditary genetic risk for the deceased's family members.
• Genetic testing can reveal inherited heart rhythm disorders in young people who die suddenly from cardiac arrest and inform other family members they may want to explore testing.
• Early-onset cancer cases where no genetic testing was conducted before death may also benefit from postmortem analysis to guide health decisions for surviving family members.

What is the Likelihood of Finding an Answer?

The likelihood of finding an answer with postmortem genetic testing depends on several factors, such as autopsy findings and family medical history. If a condition like hypertrophic cardiomyopathy (HCM) is found during autopsy for a sudden death, there’s about a 50% chance genetic testing will find the cause². However, in cases where young people have sudden cardiac arrest with no prior health issues and a normal autopsy, the likelihood of finding a genetic answer decreases to 20-30%^3-6. Even when testing doesn't provide definitive answers, the information can help medical professionals, including genetic counselors, better understand family health risks and develop appropriate recommendations for family members.

Important Guidelines for Testing

Several guidelines direct the postmortem genetic testing process¹. First, a detailed autopsy is recommended to guide genetic testing decisions. Genetic testing adds valuable information but should be seen as complementary to the autopsy findings, which help direct specific tests. Blood samples should be saved during the autopsy for potential genetic testing.

Sample Collection and Storage

The quality and type of sample collected from the deceased will impact the success of postmortem genetic testing. Stored blood that has been frozen is considered the optimal sample type to preserve the DNA quality. If frozen storage isn't available, refrigerated blood can be used within a week of collection. Fresh tissue samples and cheek swabs also serve as viable alternatives for testing. Many coroner’s offices collect a blood spot card, which is a small, absorbent card used to collect a few drops of blood for long-term storage.

It's important to note that certain sample types have limitations – hair follicles and teeth samples are not accepted due to insufficient DNA content. Additionally, only very few laboratories have the capability to process fixed tissue specimens.

Cost and Insurance Considerations

Families should be aware of several important financial aspects of postmortem genetic testing. Most health insurance policies do not cover genetic testing after death, as an individual's health insurance ends upon their passing. The cost of testing typically ranges from $250 to over $1,000, depending on the type of test. In most cases, families must pay for these tests out of pocket. A genetic counselor can help answer questions about the cost and guide you through the process.

Getting Professional Guidance

Genetic counselors provide families with expert support to help navigate the complex testing process and explain the various testing options available. They also play a crucial role in interpreting test results and assisting families in understanding what these results mean for their own health. Additionally, genetic counselors can discuss the implications of test findings for family members and help develop appropriate care plans.

Important Distinctions

It’s important to know that medical postmortem genetic testing is different from ancestry or genealogy testing. For ancestry-related questions, the International Society of Genetic Genealogy is a helpful resource.

References

1. Stiles, M. K., Wilde, A. A. M., Abrams, D. J., Ackerman, M. J., Albert, C. M., Behr, E. R., Chugh, S. S., Cornel, M. C., Gardner, K., Ingles, J., James, C. A., Juang, J. J., Kääb, S., Kaufman, E. S., Krahn, A. D., Lubitz, S. A., MacLeod, H., Morillo, C. A., Nademanee, K., Probst, V., … Wang, D. W. (2021). 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Journal of arrhythmia, 37(3), 481–534.
2. Ommen, S. R., Ho, C. Y., Asif, I. M., Balaji, S., Burke, M. A., Day, S. M., Dearani, J. A., Epps, K. C., Evanovich, L., Ferrari, V. A., Joglar, J. A., Khan, S. S., Kim, J. J., Kittleson, M. M., Krittanawong, C., Martinez, M. W., Mital, S., Naidu, S. S., Saberi, S., Semsarian, C., … Waldman, C. B. (2024). 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation, 149(23), e1239–e1311.
3. 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.
4. Behr 2003 et al “Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome.” Lancet. 2003 Nov 1, 362(9394):1457-9.
5. 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.
6. Lahrouchi, N, Raju, H, Lodder, E. et al. Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. JACC. 2017 May, 69 (17) 2134–2145.

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