Dr. Atwal is a board-certified clinical and medical biochemical geneticist. Previously he served as Medical Director for the Individualized Medicine Clinic at Mayo Clinic FL on the Jacksonville campus. He received his medical degree from the University of Glasgow, and initially trained in hospital internal medicine with The Royal College of Physicians at Glasgow Royal Infirmary in Scotland. He completed his genetics fellowship at Stanford University and sub-specialty biochemical genetics fellowship at Baylor College of Medicine. He holds diplomas in structural molecular biology and forensic medical science and an MBA specializing in healthcare administration. Dr. Atwal’s clinical interests include clinical genomics, undiagnosed diseases following lengthy diagnostic odysseys and inborn errors of metabolism. Through his work, he co-led the discovery of biparental mitochondrial inheritance in humans, discovered two new genetic connective tissue syndromes that results from defects in the FLNA & AEBP1 genes, co-developed an untargeted metabolic screening test for inborn errors of metabolism, and published extensively on human genetics, with over 70 peer-reviewed publications to date.
Ed Esplin, Invitae
Genetic testing has evolved over time and various applications have successfully made it into the clinical setting. While oncology applications are dominating, we also see a rise in genetic/genomic applications for reproductive health, CVD diagnosis, or early life understanding. Technological advancements are required to scale genetic testing applications delivery including relay of genomic information to clinicians and patients. In parallel to technological challenges, hurdles are also observed when it comes to insight/knowledge extraction, reporting of clinical findings, and scaling of genetic counseling. This track will touch upon these various aspects including successful precision medicine models through biopharma ventures for rare disease understanding and direct to consumer genetic testing.