If you’re attending the 2014 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Nashville, TN, make sure you stop by and speak with Dr. Diane Allingham-Hawkins, Director of the Genetic Test Evaluation (GTE) Program at Hayes, Inc., as she presents a poster session on Thursday March 27, 2014, from 10:30 am to 12:00 pm. She’ll be reviewing the results of our examination into the clinical utility of whole exome sequencing in the identification of genetic changes in rare and undiagnosed genetic disorders.
Researchers are intent on finding the genetic causes of genetic disorders; however, given that few patients are available for study, doing so can be difficult. 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 cause of certain rare and undiagnosed gene diseases; however, few studies clearly demonstrated an improvement in patient outcomes as a result of whole exome sequencing. Our conclusion is that we need more research and discussion before putting this technology into widespread use.
The ACMG Annual Clinical Genetic Meeting is the premiere gathering of the leaders in the field of genetic and genomic medicine. Hayes is honored to be able to present our research findings here.