Lineagen recently completed the testing portion of a 9,000-person research study designed to confirm novel copy number genetic variants and novel next-generation sequence variants associated with autism spectrum disorder (ASD). These variants were discovered by Hakon Hakonarson, MD, PhD, and his team at The Children’s Hospital of Philadelphia (CHOP)’s Center for Applied Genomics and by Mark F. Leppert, PhD, and his team at the University of Utah’s Department of Human Genetics. In partnership with Affymetrix, Lineagen has incorporated these novel variants into the next generation of its FirstStepDx genetic testing service, which combines highly advanced genetic testing with fully integrated genetic counseling to accelerate and enhance the diagnostic evaluation of individuals with ASD, developmental delay (DD), and intellectual disability (ID), and help physicians better direct clinical management for these individuals. The launch of Lineagen’s next generation FirstStepDx is expected to coincide with peer-review publication of the study results as early as the fourth quarter of 2012.

Lineagen was granted an exclusive commercial license to these novel genetic variants as part of separate broad license and research collaborations with CHOP and the University of Utah to improve the understanding of the genetic contributors to ASD. Notably, the exclusively licensed markers from CHOP, published in Nature and PLoS Genetics, were named by TIME magazine as one of the top ten medical breakthroughs of 2009.