Mayo researchers: Postmortem genetic tests following sudden death may be less expensive way to identify family members at risk

Mayo Clinic scientists will present research at the American Heart Association’s Scientific Sessions 2009 in Orlando on Sunday, Nov. 15, showing that postmortem testing to identify genetic mutations for sudden unexplained death could be a less expensive manner to determine first-degree relatives’ risk.

“What we wanted to explore in this study is: Might it make more sense and might it make more cost-effective sense if we put all of the initial full court press on the deceased individual who holds the answer for his or her untimely and so far unexplained death?” says Michael Ackerman, M.D., Ph.D., a pediatric cardiologist at Mayo Clinic in Rochester, Minn., and senior author of the study. “That we would focus our energy on the cardiac channel molecular autopsy on that person and for the 25 to 30 percent where the “a-ha” moment is realized, where we’ve caught the culprit — then we do a targeted exploration of those deceased individual’s relatives.”

Dr. Ackerman and David Tester, senior research technologist, compared the yield and costs of postmortem genetic/molecular autopsy testing in 146 sudden unexplained death cases. They found that 40 of the victims had two mutations that contribute to sudden death.

The total cost of doing postmortem genetic testing, genetic confirmation testing of relatives of mutation-postive victims, and then followed by doing tests for both relatives of mutation-positive and mutation-negative sudden unexplained death victims, was $6.78 million. That compares with an excess of $7.7 million total cost of what is currently recommended — providing cardiac testing all the relatives of the SUD victims, not considering mutation status, Dr. Ackerman says. “We saw that there would be a million-dollar savings in this cohort by focusing the initial energy on the deceased individual who holds the answer — or who might hold the answer,” he says.

Below is a link to an edited youtube video with Dr. Ackerman discussing this topic.