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Hayes, Inc. Experts Investigate Clinical Utility of Whole Exome Sequencing

September 11, 2014

Whole exome sequencing not proven to improve the outcomes of patients with cancer

Hayes, Inc., a leader in promoting better health outcomes through the use of evidence, congratulates its team of genetics experts headed by Dr. Diane Allingham-Hawkins, Senior Director of the Genetic Test Evaluation (GTE) Program at Hayes, Inc., on the publication of the results of their investigation into the clinical utility of whole exome sequencing. The manuscript Whole Exome Sequencing for Rare Genetic Disorders – Is There Evidence of Clinical Utility? appears in the August 22, 2014, issue of the open-access, peer-reviewed journal Advances in Genomics and Genetics.

“Whole exome sequencing is a new technology that enables researchers to peer into the coding regions—or exons—of the genome to detect gene variants that might be the cause of rare genetic diseases,” explains Dr. Allingham-Hawkins. “Whole exome sequencing is now clinically available for a variety of conditions, including cancers. But detecting the presence of gene variants is not enough. The Hayes team wanted to know whether evidence existed to show that the information provided by whole exome sequencing actually made a difference in patients’ lives by leading to interventions that improve outcomes.”

Using a proprietary approach, Hayes experts evaluated the published evidence behind whole exome sequencing in a variety of cancers. “We found that whole exome sequencing has been studied most extensively in breast cancer. And while whole exome sequencing did indeed detect genetic variants, we found a paucity of published research to show which variants or genes played a role in the development or progression of cancer. Likewise, we found few studies showing an improvement in patient outcomes as a result of whole exome sequencing. Based on our results, we concluded that whole exome sequencing has not been proven to improve the outcomes of patients with cancer. From our perspective, we need more research and discussion before using whole exome sequencing results to make treatment decisions in patients with cancer.”

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