Genetic Counselors Help Families Who Lose A Loved One To Sudden Death
Sudden cardiac arrest is the sudden stopping of the heart that usually results in death. It typically occurs in older adults but can also affect young people. In half the cases in young people there is no warning sign or known family history of heart disease, and in about a third of these young cases, no cause of death will be identified during an autopsy.
In these cases, genetic testing (also known as postmortem genetic testing), if positive, can help determine the cause of death, as well as help identify family members who are at risk for heart disease and possibly sudden cardiac arrest. Another more rare cause of sudden death in young people is Sudden Unexplained Death in Epilepsy (SUDEP). The mechanisms underlying SUDEP remain unknown but genetic factors contribute in some cases.
An Opportunity to Work Together and Improve the Process
In order to conduct postmortem genetic testing, blood and/or tissue samples from the autopsy must be taken and saved, and while some medical examiners do this, it is not routine practice. Families coping with the shock of losing a young, seemingly healthy loved one are likely not thinking about genetic testing or the need for samples that will allow for DNA extraction at the time of autopsy.
Genetic counselors and the National Society of Genetic Counselors Cardiac Special Interest Group are leading an initiative to advocate for families and educate medical examiners, coroners and pathologists about saving appropriate samples for postmortem genetic testing.
When a family does consider postmortem genetic testing, genetic counselors are trained to assist families by coordinating the genetic testing and DNA banking process, if appropriate. Genetic counselors are also experts in compiling and assessing the family history and coordinating referral of family members who may benefit from an evaluation by a cardiologist or other health professional.
Improving Access to Postmortem Genetic Testing
A major barrier to postmortem genetic testing is the lack of samples saved at autopsy that allow for DNA extraction and genetic testing. The unexplained death of a young person is made more difficult for families when they learn that a possible key to understanding why their family member died is lost because samples were not saved at autopsy or were discarded. There is a limited window of opportunity to save and store these precious samples, and the process relies on medical examiners, coroners and pathologists. Multiple steps are important to allow for extraction of DNA of adequate yield and quality for postmortem samples.
The type of samples saved and storage conditions are two critical factors in obtaining adequate DNA for testing.
“When a family does consider postmortem genetic testing, genetic counselors are trained to assist families by coordinating the genetic testing and DNA banking process, if appropriate.”
A new and important model for saving postmortem samples is the NIH/CDC Sudden Death in the Young (SDY) Registry. The SDY Registry will routinely save samples for DNA banking and for research, in cases where consent is obtained. The SDY Registry recently announced the funding of 10 grantees (California, Delaware, Georgia, Michigan, Minnesota, New Hampshire, New Jersey, Tennesee, Virginia and Wisconsin). In the funded jurisdictions of these states, sudden death cases in youths under age 20 will undergo a recommended death investigation and a sample will be sent to a biorepository at the University of Michigan for DNA extraction. SDY cases will also undergo review by Child Death Review teams and advanced review by experts in sudden cardiac death, sudden unexpected death in epilepsy and pathology. The registry goals are to establish incidence for SDY and better characterize the cases. Data and sample collection will begin in 2015.
Insurance coverage and cost are also major barriers to pursuing postmortem genetic testing. Currently, commercial insurance does not routinely cover genetic testing on deceased individuals, unless a case can be made that family members are at high risk. Ongoing education for payers on the importance and usefulness of postmortem genetic testing is needed to increase reimbursement rates. If costs of postmortem genetic testing were reduced, use would increase among medical examiners, coroners and pathologists and access for families who pay out of pocket would improve.
Postmortem Genetic Testing Resources
NSGC has created multiple resources to educate medical examiners, coroners, pathologists, genetic counselors and families. Resources include:
- Information for families on postmortem genetic testing/DNA banking
- NSGC postmortem genetic testing website detailing information on when to save samples and what samples to save: http://www.nsgc.org/postmortem
- Postmortem email contact to allow families, medical examiners, coroners and other healthcare providers an opportunity to ask questions about this process: firstname.lastname@example.org
Increased education and efforts to characterize young sudden deaths will help identify opportunities for prevention and will help families.
Knowing your family history of heart disease may be important to investigate further. If someone in your family has died young or suddenly and you’re interested in postmortem genetic testing and/or genetic counseling, you can find a genetic counselor in your area using the Find a Genetic Counselor tool.
Heather MacLeod is a member of the National Society of Genetic Counselors Cardiac Special Interest Group and is a genetic counselor and senior project manager for the Sudden Death in the Young (SDY) Registry.