Hayes, Inc. Genetic Expert to Present Research Results at ACMG Annual Clinical Genetics Meeting

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Clinical utility of whole exome sequencing in the identification of genetic changes in rare genetic disorders will be the focus.

Hayes, Inc., a leader in promoting better health outcomes through the use of evidence, is pleased to announce that Dr. Diane Allingham-Hawkins, Director of the Genetic Test Evaluation (GTE) Program at Hayes, Inc., will be presenting a poster presentation at the 2014 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetic Meeting in Nashville, TN. Dr. Allingham-Hawkins’ presentation, Whole Exome Sequencing for Rare Genetic Disorders – Is There Evidence of Clinical Utility?, will be presented in the poster session on Thursday, March 27, 2014, from 10:30 am to 12:00 pm.

“Researchers are intent on finding the genetic causes of rare genetic disorders; however, given that few patients are available for study, doing so can be difficult,” explains Dr. Allingham-Hawkins. “With new technologies, such as whole exome sequencing, we are now better able to peer into an individual’s genetic code to find gene variants that might be the cause of a rare disease. Our poster describes how the Hayes team used a systematic and proprietary process to answer the question, ‘Is there evidence that whole exome sequencing improves outcomes in patients with rare genetic diseases?’ We found that whole exome sequencing did indeed detect genetic variants that might be the potential cause of certain rare diseases; however, few studies showed an improvement in patient outcomes as a result of whole exome sequencing. Obviously, we need more research and discussion before putting this technology into widespread use.”

Dr. Allingham-Hawkins holds dual accreditation in molecular genetics and cytogenetics from the Canadian College of Medical Geneticists. As Director of Hayes GTE Program, she directs the development of genetic testing algorithms, health technology assessments, and evidence reviews for a wide variety of genetic and genomic tests, including those associated with all of the > 200 MoPath CPT codes implemented by the American Medical Association beginning in 2012.

Hayes, Inc., an internationally recognized leader in health technology research and consulting, is dedicated to the delivery of high-quality healthcare and improved outcomes through the integration of evidence into decision making and policy development. The unbiased information and comparative-effectiveness analyses we provide enable evidence-based decisions about acquiring, managing, and paying for health technologies. Our worldwide clients include hospitals, healthcare systems, government agencies, health plans, and employers.

For more information about Hayes, Inc., visit http://www.hayesinc.com. Or, contact Hayes, Inc. by mail at 157 S. Broad Street, Lansdale, PA 19446; by telephone at 215.855.0615; by e-mail at hayesinfo(at)hayesinc(dot)com; or by fax at 215.855.5218.

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