Postmortem genetic testing less expensive for identifying risks in relatives of sudden cardiac death victims
Genetic testing was estimated to be less expensive by nearly $1 million.
American Heart Association Scientific Sessions 2009
Targeted post-mortem genetic testing may be a more inexpensive method of identifying risks to the relatives of victims of sudden unexplained death than comprehensive cardiac testing of first-degree relatives.
Researchers compared yields and costs of postmortem genetics/molecular autopsy testing in 146 patients who suffered sudden unexplained death. Forty of the victims (26.7%) had either polymorphic ventricular tachycardia mutations (n=18) or a long QT syndrome mutation (n=22).
The researchers estimated the cost of applying genetic testing and either treadmill stress tests or ECGs of 160 relatives of victims who tested positive for genetic mutations. They also estimated the costs of testing the 424 relatives of the 106 patients who tested negative for genetic mutations and reported that the total cost of postmortem genetic testing, genetic confirmation testing of relatives of mutation-positive victims plus cardiac tests for relatives of both mutation-positive and mutation-negative sudden unexplained death victims was $6.78 million. The total cost associated with comprehensive cardiac testing for all 584 relatives of the victims of sudden unexplained death followed by genetic testing would have exceeded $7.7 million.
The primary decedent-focused postmortem genetic analysis approach offers the potential for substantial cost savings on a single-family basis, said Michael J. Ackerman, MD, PhD, associate professor of medicine, pediatrics, and molecular pharmacology at the Mayo Clinic in Rochester, Minn., said in a press conference. Currently, however, evaluations of the surviving family members are insurance-covered medical expenses, whereas postmortem genetic testing is generally denied.
Ackerman M. Abstract 1894. Presented at: American Heart Association Scientific Sessions 2009; Nov. 14-18; Orlando, Fla.