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Research Findings Key for Understanding, Interpreting Genetic Testing for Long QT Syndrome
Date:11/5/2009

und noise" rate of rare variants present in about 4 percent of healthy Caucasian volunteers, and that the mutation type and location are critical determinants to distinguish this background noise from true LQTS-causing mutations.

The Circulation paper is another critical piece in the maturation of LQTS genetic testing from discovery, translation, implementation, and now post-implementation interpretation, Dr. Ackerman says.

"This study demonstrates what we've long suspected in genetic testing circles - that genetic tests are not merely binary tests but are probabilistic tests whereby some test results are going to provide 'no-doubt-about-it' disease mutations, whereas other test results may report a mutation whose pathogenicity is uncertain," says Dr. Ackerman. "Our research shows that genetic testing is just one piece of the diagnostic puzzle that a physician needs to look at."

The results show that genetic testing does not always give a "yes or no" answer for LQTS or other diseases, and it means that physicians need to meticulously interpret genetic test results with the same scrutiny and tenacity as any other diagnostic test such as the electrocardiogram (ECG), Dr. Ackerman says.

Surprisingly, although there are nearly 1,500 genetic tests that physicians can order for patients, this genetic "signal-to-noise" ratio has been exposed for only a small handful of them, including breast cancer genetic testing and now long QT syndrome testing. For personalized, individualized medicine to succeed, the medical community must begin to grasp the probabilistic nature of genetic testing, he says.

Mayo Clinic and Dr. Ackerman have a financial interest in LQTS genetic testing technology. This technology has been licensed to a commercial entity (PGxHealth) and both Mayo Clinic and Dr. Ackerman receive royalties from that license.

Collaboration and Support

Other Mayo Clinic team members are Suraj Kap
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SOURCE Mayo Clinic
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