SALT LAKE CITY, May 17, 2012 \/PRNewswire\/ --Lineagen today announced the Company 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, M.D., Ph.D., and his team at The Children's Hospital of Philadelphia (CHOP)'s Center for Applied Genomics and by Mark F. Leppert, Ph.D., 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. <\/p>\n
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. <\/p>\n
Dr. Hakonarson, Director of CHOP's Center for Applied Genomics, commented, \"Recent clinical literature has demonstrated that patients with positive findings on chromosomal microarray (CMA) can experience significant changes in clinical management. By incorporating CHOP's genetic variants, which may account for up to 15% of ASD cases, Lineagen has developed a CMA platform to test for these variants, thereby providing clinicians with information that may affect the way patients with ASD, DD, and ID are evaluated and managed clinically.\" <\/p>\n
Dr. Leppert, Distinguished Professor at the University of Utah's Department of Human Genetics, said, \"We are very encouraged by the productivity to date of the research program with Lineagen. The ability to replicate in the general population the findings from our collaboration is a major step in understanding the genetic markers associated with ASD. We look forward to the continued success of the program and to the further refinement of Lineagen's FirstStepDx genetic test.\" <\/p>\n
Michael S. Paul, Ph.D., Lineagen's Chief Executive Officer, stated, \"We are further refining our product, to incorporate these ground-breaking discoveries into our next-generation high-density array, and these will differentiate FirstStepDx further by increasing the number of genetic variants known the be associated with ASD. If there are positive results from this large study, which we cannot determine until the research is completed, Lineagen's next-generation FirstStepDx will offer the ability to identify more than 100 novel genetic markers associated with ASD.\" <\/p>\n
About FirstStepDx <\/p>\n
Lineagen's FirstStepDx and related autism-risk screening services (www.m-chat.org) have been developed with the specific intention of helping physicians, patients, and families navigate the diagnostic evaluation \"odyssey\" of individuals with autism spectrum disorder (ASD) and related forms of developmental delay more efficiently. FirstStepDx includes personal genetic counseling, the most advanced CMA and Fragile X genetic testing clinically available, analysis by medical experts, and a detailed, personalized report created specifically for each individual's case. FirstStepDx is specifically designed to help parents, physicians, and other healthcare providers significantly shorten the time to clinical action, allowing access to proven clinical management and treatment approaches as early as possible. <\/p>\n
The FirstStepDx genetic test now is available as a fast and painless cheek swab (FirstStepDx Buccal), eliminating the need for a blood draw. For more information about FirstStepDx, please call Lineagen at 888-888-OPEN (888-888-6736) or visit http:\/\/www.FirstStepDx.com<\/a>. <\/p>\n About Lineagen <\/p>\n Based in Salt Lake City, Utah, Lineagen's mission is to accelerate and enhance the diagnostic evaluation of medical conditions so that the best possible outcomes can be achieved for patients and their families. Our first commercial offering, FirstStepDx, provides physicians with a fully integrated genetic testing, counseling, and developmental screening service to aid in the diagnostic evaluation of individuals with ASD or other forms of developmental delay. In addition to our deep commitment to ASD and developmental delay, we have ongoing scientific programs in the areas of multiple sclerosis (MS) and chronic obstructive pulmonary disease (COPD). <\/p>\n<\/p>\n Go here to read the rest:<\/p>\n Lineagen Completes 9000-Person Study Focused on Genetic Variants in Individuals Diagnosed with Autism Spectrum ...<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" SALT LAKE CITY, May 17, 2012 \/PRNewswire\/ --Lineagen today announced the Company 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, M.D., Ph.D., and his team at The Children's Hospital of Philadelphia (CHOP)'s Center for Applied Genomics and by Mark F. Leppert, Ph.D., and his team at the University of Utah's Department of Human Genetics Continue reading