Medical Director, Pediatric Genetics
San Diego, CA
Tina Hambuch, PhD, FACMG, has been active in medical genetics for over 10 years. She currently is the medical director of pediatric genetic testing at Invitae, a clinical genetic testing company.
Prior to joining Invitae, Dr. Hambuch designed and led the implementation of the first laboratory to offer whole genome sequencing through a CLIA-certified, CAP-accredited laboratory at Illumina. While there, she also worked closely with bioinformaticians, geneticists and genetic counselors to create a team and process for interpreting and classifying variants according to ACMG standards at a genomic scale.
She has authored over 20 papers on the implementation and application of NGS techniques in a clinical laboratory. Dr. Hambuch was also a scientist at Ambry genetics, an assistant professor at the University of Munich, and a post-doctoral fellow at the Centers for Disease Control (CDC).
She earned her Ph.D. at UC Berkeley, her bachelor’s degree at UC Riverside, and did her medical genetics training at UCLA. Dr. Hambuch is board-certified in clinical molecular genetics. She is an active fellow of the American College of Medical Genetics and Genomics, and a member of the American Society of Human Genetics.