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, M.D., 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 2,500 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 1,400 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 probabilistic tests whereby some test results are going to provide ‘no-doubt-about-it’ diease mutations. Whereas other test results may report a mutation whose pathogenicity is uncertain.”
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. First clinically described in 1957, it took until 1995 until the first genes were discovered. In 2004, the first clinically available test for LQTS became available in North America.
In LQTS, approximately 5 percent to 10 percent of the time, its first symptom is sudden death, often related to physical exertion or auditory triggers such as an alarm clock. However, most cases can be diagnosed following warning signs (sudden, without warning, fainting spells or concerning family history) that suggest its potential presence and from objective data derived from an electrocardiogram (ECG), exercise or adrenalin stress testing, and genetic testing.
Mayo Clinic and Dr. Ackerman have a financial interest in LQTS technology. This technology has been licensed to a commercial entity and both Mayo Clinic and Dr. Ackerman receive royalties from that license.

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Lung Cancer Screening – Mayo Clinic

For many years, doctors have known that screening for certain cancers saves lives. Breast cancer and prostate cancer are two examples. Now you can add lung cancer to that list. The National Lung Screening Trial results show screening people at high risk of lung cancer with CT scans lives. To learn more, visit http://mayocl.in/2xJdaq0

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Crohn’s Disease & Pregnancy-Mayo Clinic



Dr. Sunanda Kane discusses women with Crohn’s disease who want to get pregnant, issues around the time of birth, and breast feeding. Also discusses taking medications for Crohn’s disease during pregnancy and questions surrounding the chance of passing along Crohn’s disease to the baby.

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Richard Rubenstein: Overcoming Rectal Cancer – Mayo Clinic



Richard Rubenstein, a retired executive from Scottsdale, Arizona, shares his experience battling rectal cancer diagnosed in 2007. He explains his medical and surgical treatment at Mayo Clinic in Arizona while giving those overcoming a cancer diagnosis hope and wisdom.

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Lung Regeneration

There are hundreds of thousands of patients in the United States with end stage lung disease. Many of them are not candidates for lung transplantation or other therapies. Learn now lung regeneration, through the use of existing cells to build an artificial lung, is building a brighter future for patients with few treatment options.

To request an appointment, visit http://www.mayoclinic.org/departments-centers/transplant-center/lung-transplant/choosing-mayo-clinic/appointments-referrals?mc_id=us&utm_source=youtube&utm_medium=sm&utm_content=video&utm_campaign=mayoclinic&geo=national&placementsite=enterprise&cauid=100504

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Craniosynostosis – Mayo Clinic

Bringing a new baby home from the hospital is supposed to be a time of joy, wonder and excitement. So imagine what it would be like if, after a couple months at home, you discovered your perfect baby had a problem. That’s what happened to a little girl named Lexi. The bones in her head fused too early, and her brain didn’t have enough room to grow. Her parents took her to Mayo Clinic for surgery. Learn more: http://mayocl.in/2zR1OBX

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Study Findings: Testosterone and Triple Negative Breast Cancer – Mayo Clinic

Could blocking an androgen ( testosterone) receptor lead to a new way to treat an aggressive form of breast cancer?

That’s a question researchers at the Mayo Clinic in Arizona and the Translational Genomics Research Institute (TGen) in Phoenix, Ariz are exploring. Preliminary results of a Mayo Clinic — TGen collaborative study show the androgen receptor may be a potential target to attack in treating triple negative breast cancer (TNBC).

Barbara Pockaj, M.D., a surgical oncologist at the Mayo Clinic in Arizona, discusses the study findings and the next steps in research.

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Overcoming Acute Myelogenous Leukemia – Max’s Story



Max Harris, a twenty-nine year old patient at Mayo Clinic in Arizona, shares his experience battling a rare form of leukemia, acute myelogenous leukemia (AML). He describes undergoing a bone marrow transplant as treatment for AML. Max explains what helped him get through his treatment and how he is doing now following the bone marrow transplant.

To request an appointment, visit http://www.mayoclinic.org/departments-centers/transplant-center/sections/request-appointment/ptc-20203893?mc_id=us&utm_source=youtube&utm_medium=sm&utm_content=video&utm_campaign=mayoclinic&geo=national&placementsite=enterprise&cauid=100504

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