Author Profile

Edward Wassman

Affiliation: Lineagen, Inc., Salt Lake City, Utah, USA

Dr. Wassman is Chief Medical Officer of Lineagen, Inc., which focuses on optimized genetic diagnostic services for individuals with autism and other conditions of childhood development. A pioneer of personalized medicine, he has driven the translation and delivery of cutting-edge diagnostic technologies to clinical service for over 30-years. He has held numerous executive positions in the field of genetic testing, co-founded Good Start Genetics, and was CMO there and at Genzyme Genetics, Rosetta Genomics, Generation Health, Helicos Biosciences, Celula, and Alfigen. He is a graduate of Yale University and Albany Medical College and Board Certified in Pediatrics and Medical Genetics.

Recent Posts

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions

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Introduction: Chromosomal microarray analysis (CMA) is recognized as the first-tier test in the genetic evaluation of children with developmental delays, intellectual disabilities, congenital anomalies and autism spectrum disorders of unknown etiology.

Array Design: To optimize detection of clinically relevant copy number variants associated with these conditions, we designed a whole-genome microarray, FirstStepDx PLUS (FSDX). A set of 88,435 custom probes was added to the Affymetrix CytoScanHD platform targeting genomic regions strongly associated with these conditions. This combination of 2,784,985 total probes results in the highest probe coverage and clinical yield for these disorders.

Results and Discussion: Clinical testing of this patient population is validated on DNA from either non-invasive buccal swabs or traditional blood samples. In this report we provide data demonstrating the analytic and clinical validity of FSDX and provide an overview of results from the first 7,570 consecutive patients tested clinically. We further demonstrate that buccal sampling is an effective method of obtaining DNA samples, which may provide improved results compared to traditional blood sampling for patients with neurodevelopmental disorders who exhibit somatic mosaicism.