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

Study has Important Implications for Genetic Testing and Individualized Medicine

ROCHESTER, Minn., Nov. 5 /PRNewswire-USNewswire/ -- Results of a long QT syndrome (LQTS) study published 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. A pediatric cardiologist at Mayo Clinic, Dr. Ackerman directs Mayo's Long QT Syndrome Clinic and is the director of the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory.

(Logo: http://www.newscom.com/cgi-bin/prnh/20090105/MAYOLOGO)

LQTS is a disorder of the electrical system of the heart that affects 1 in 2,500 people. 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, many cases can be diagnosed following warning signs such as sudden fainting spells or a family history that suggest its potential presence and from objective data derived from an ECG, exercise or epinephrine QT stress testing, and genetic testing. The condition was first clinically described in 1957, but the first LQTS genes were not discovered until 1995. In 2004, the first genetic test for LQTS became clinically available in North America.

This multicenter study also involved Arthur Wilde, M.D., Ph.D., Academic Medical Center, Amsterdam, The Netherlands, and scientists from PGxHealth. Dr. Ackerman says genetic testing results of nearly 400 patients with a strong clinical diagnosis of LQTS 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 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 Kapa, M.D., and David Tester. Others involved in the study are Benjamin Salisbury, Ph.D., and Carole Harris-Kerr, Ph.D., both from PGxHealth; Manish Pungliya, formerly of Genaissance Pharmaceuticals; and Marielle Alders, Ph.D., Academic Medical Center, Amsterdam.

To request an appointment at Mayo Clinic, please call 480-422-1490 for the Arizona campus, 904-494-6484 for the Florida campus, or 507-216-4573 for the Minnesota campus.

VIDEO ALERT: Additional audio and video resources, including comments by Dr. Ackerman describing the research, are available on the Mayo Clinic News Blog.

About Mayo Clinic

Mayo Clinic is the first and largest integrated, not-for-profit group practice in the world. Doctors from every medical specialty work together to care for patients, joined by common systems and a philosophy of "the needs of the patient come first." More than 3,700 physicians, scientists and researchers and 50,000 allied health staff work at Mayo Clinic, which has sites in Rochester, Minn., Jacksonville, Fla., and Scottsdale/Phoenix, Ariz. Collectively, the three locations treat more than half a million people each year. To obtain the latest news releases from Mayo Clinic, go to www.mayoclinic.org/news. For information about research and education visit www.mayo.edu. MayoClinic.com (www.mayoclinic.com) is available as a resource for your health stories.

SOURCE Mayo Clinic


'/>"/>
SOURCE Mayo Clinic
Copyright©2009 PR Newswire.
All rights reserved

Related medicine news :

1. Near vision research study
2. Caregiver's National Quilt Contest Supports ALS Association's Global Research Program
3. Research Triangle Dental Bolsters Invisalign Capabilities
4. NIAID announces new human immunology research awards to help fight emerging infectious diseases
5. Stars of Film, Television, Sports and Music Join Marlo Thomas to Kick Off the 6th Annual Thanks and Giving(R) Campaign to Support St. Jude Childrens Research Hospital(R)
6. Leaders in the Study of Allosteric Modulation to Discuss Latest Research at Allosteric and Orthosteric Modulator Congress
7. Jefferson researchers receive $3.9 million in Challenge grants
8. Renowned cardiovascular researcher to receive Taylor Prize
9. Fred Hutchinson Cancer Research Center Seeks Seattle Area Volunteers for a Stress-reduction Study
10. Childhood cancer survivors less likely to marry, Yale researchers find
11. Researchers unlock the sound of learning by linking sensory and motor systems
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/22/2017)... SAN FRANCISCO BAY AREA, CA (PRWEB) , ... ... ... to premier, Nuvesse, an accessible luxurious collection of unique masks and serums that ... latest in scientific skin care advancements, at the 2017 Indie Beauty Expo on ...
(Date:8/22/2017)... ... August 22, 2017 , ... ... to good health is as simple as eating healthy foods. But this well-known ... storing fat, making insulin, or breaking apart carbohydrates—depends not only on properties of ...
(Date:8/22/2017)... ... August 22, 2017 , ... Pivot Point ... of Zack Tisch as the firm’s new Consulting Services Executive. Mr. Tisch will ... national accounts, from assisting clients with initial vendor selection and pre-implementation planning through ...
(Date:8/22/2017)... , ... August 22, 2017 , ... ... (RCM) solutions, announced recently the availability of a new professional fee E/M leveling ... for their service to the healthcare industry. E/M coding is complex which supports ...
(Date:8/22/2017)... , ... August 22, 2017 , ... Five Star Glass is new to the Texas ... and replacement of auto glass for most makes and models, in Grand Prairie, TX, located ... , They have been a family owned business for the past 40 years with ...
Breaking Medicine News(10 mins):
(Date:8/2/2017)... 2017  Life Flight Network and PeaceHealth Oregon Network announced ... care and operational efficiency for patients at hospitals in ... Cottage Grove , and Florence, Oregon ... Life Flight Network work collaboratively to move patients who require ... a time sensitive emergency exists. ...
(Date:7/31/2017)... 31, 2017 Three Tru-D SmartUVC robots have arrived ... Korea . Tru-D, short for "Total Room Ultraviolet Disinfection," is a ... an environmental services (ES) professional cleans the area with traditional cleaning protocols. ... Tru-D fights germs ... "Although the BAACH has a very ...
(Date:7/27/2017)... 2017  Zimmer Biomet Holdings, Inc. (NYSE and SIX: ZBH) ... 30, 2017.  The Company reported second quarter net sales ... prior year period, and an increase of 2.1% on ... of contribution from the LDR Holding Corporation acquisition, second ... of 2016, or 0.3% on a constant currency basis. ...
Breaking Medicine Technology: