Genetic testing and screening traditionally have been done with specific assays targeting individual, known DNA variants. The high cost of standard sequencing assays and the challenges and costs of clinical data interpretation have limited diagnostic tests using DNA sequencing to a small group of patients with specific clinical indications. As a result, many genetic diseases and clinically important conditions may go undiagnosed.
Technology is being developed to aggregate hundreds of genetic tests for hereditary cancer syndromes and other associated conditions into a single assay with improved speed, higher quality and lower cost than most single gene tests today. While most genetic diseases are rare, in aggregate, they are found in 5-10% of the US population, 2% of whom are affected by genetic conditions with known, actionable follow up. Furthermore, any individual may be a carrier of multiple recessive conditions that could eventually affect their extended family.
CLIA-certified next-generation sequencing now is being used by Invitae in routine medical practice to generate reliable DNA sequence at a scale that extends well beyond the capabilities of historical DNA sequencing platforms. Multiple variant types from single-nucleotide changes to copy-number variants are obtained, evaluated and classified according to American College of Medical Genetics guidelines by a team of medical specialists for reporting to patients and physicians. Randy Scott will describe the development and implementation of this approach taken to effectively deliver comprehensive genetic testing to patients worldwide in order to more effectively research, diagnose, and treat disease.
Randy Scott, Ph.D. is co-founder, chairman and CEO of Invitae Corporation, a privately owned company focused on bringing comprehensive genetic information into routine medical practice. Prior to starting Invitae, Dr. Scott founded Genomic Health (NASDAQ: GHDX) in 2000 and led the company as CEO for nine years with a focus on improving the quality of treatment decisions for patients with cancer. Dr. Scott has played a role in founding several successful biotech companies in addition to Genomic Health Inc., including Incyte (NASDAQ: INCY), a genomic information company.
Dr. Scott, an author of over 40 scientific publications, 20 patents, and recipient of numerous awards, holds a Bachelor of Science degree in Chemistry from Emporia State University and a Ph.D. in Biochemistry from the University of Kansas.