Postmortem genetic tests to help relatives

ROCHESTER, Minn., Nov. 18 (UPI) -- U.S. researchers say postmortem tests to identify genetic mutations could help relatives at risk of heart disease and save money.

Dr. Michael J. Ackerman of the Long QT Syndrome Clinic and the Windland Smith Rice Sudden Death Genomics Laboratory at the Mayo Clinic in Rochester, Minn., says testing deceased patients can identify mutations that cause cellular dysfunctions leading to heart rhythm disturbances and possibly sudden cardiac death. Such inherited genetic defects occur in 25 percent to 30 percent of victims of sudden unexplained death, said Ackerman, the lead researcher for the study.

The study findings, presented at the American Heart Association's scientific sessions in Orlando, Fla., suggest postmortem testing to identify mutations associated with sudden cardiac death would be less expensive than comprehensive cardiac tests for surviving relatives.

Genetic/molecular autopsy testing in 146 cases of sudden unexplained death showed 40 of the victims had one of two mutations.

Researchers estimated the total cost of doing postmortem genetic testing, genetic confirmation testing of relatives of mutation-positive victims, followed by cardiac tests for both relatives of mutation-positive and mutation-negative sudden death victims was $6.78 million.

In contrast, the total cost associated with what is currently recommended and covered by insurance carriers -- comprehensive cardiac testing for all 584 relatives, regardless of mutation status, followed by directed genetic testing -- would exceed $7.7 million.