Cystic Fibrosis Carrier Screening: Tests in Age of Expanding Panels
August 18, 2016•15 min
Host: Matt Birnholz, MD
Guest: Garry Cutting, MD
Guest: Douglas S. Rabin, MD
Offering cystic fibrosis carrier screening to couples currently planning a pregnancy and to couples seeking prenatal testing has been a standard of care recommended by medical organizations such as ACOG, ACMG, and the NIH. However, recent advances in genome sequencing have expanded our understanding of the genetic basis of cystic fibrosis and enabled us to screen more patients for more CF-causing variants than ever before. Host Dr. Matt Birnholz welcomes Dr. Garry Cutting and Dr. Douglas S. Rabin to address cystic fibrosis carrier screening. Dr. Cutting will provide an academic view on the research-based updates in carrier screening for cystic fibrosis, Dr. Cutting is Aetna/U.S. Healthcare Professor of Medical Genetics and Professor of Pediatrics at Johns Hopkins University School of Medicine. Dr. Rabin is Medical Director of the Women's Health and Medical Affairs with Quest Diagnostics.