Mayo Clinic Led Study on Long QT Syndrome Sheds Light on Genetic Testing

Results of a Long QT Syndrome study in the current issue of Circulation play an important role in understanding genetic testing’s role in diagnosing disease, according to the senior author, Michael Ackerman, MD, Ph.D., the Mayo Clinic pediatric cardiologist who directs Mayo’s Long QT Syndrome Clinic and is the director of the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory. LQTS is a disorder of the electrical system of the heart and affects 1 in 2500 people. In the multi-center study that involved Dr. Arthur Wilde in the Netherlands and scientists from PGxHealth, genetic testing results of nearly 400 “slam dunk” LQTS patients and nearly 1400 healthy volunteers showed that there is a background noise rate of rare variants present in about 4 percent of healthy Caucasian volunteers and that mutation type and mutation location are critical determinants to distinguish this background noise from true LQTS-causative mutations, Dr. Ackerman says. “Our research shows that genetic testing is just one piece of the information a physician needs to look at,” he says. The results demonstrate that genetic testing does not give a “yes or no” answer for LQTS or other diseases, and it means that physicians need to meticulously interpret this particular diagnostic test with the same scrutiny and tenacity as any other diagnostic test, such as the electrocardiogram (ECG). “It’s proving what we’ve long know in genetic testing circles — that these are not binary tests but are
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