The Role of Medical Genetics in Newborn Screening and Genome Sequencing

Join us on the Newborn Screening SPOTlight podcast with Dr. Jerry Vockley, who is a Professor of Human Genetics, the Graduate School of Public Health, Cleveland Family Endowed Pediatric Research, School of Medicine, Chief of Genetic and Genomic Medicine, UPMC Children’s Hospital of Pittsburgh, and Director of the Center for Rare Disease Therapy, UPMC Children’s Hospital of Pittsburgh.    Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 320 peer-reviewed scholarly articles and is the principal or Co-investigator on multiple NIH grants. Dr. has an active clinical research program and participates in and consults on multiple gene therapy trials.   Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is a Fellow in the American Association for the Advancement of Science. He is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. He is founder and chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He has served as chair of the Pennsylvania State Newborn Screening Advisory Committee and is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD). On this podcast, Dr. Vockley shares his career journey and personal stories about the impact of newborn screening research on physicians, families, and advocates.  Interview Questions: Among your many appointments, you serve on the Board of the American College of Medical Genetics and Genomics (ACMG) and advise on efforts to improve health through the practice of medical genetics and genomics. In addition to the ACMG board, you were integral in the early and current days of the NBSTRN. Can you tell us how you got involved in NBSTRN? As technologies to screen, diagnose, treat, and manage disease advance and increasingly use sequencing, can you share with our listeners your vision of how sequencing will be used in newborn screening in the future? What excites you about this potential, and can you share any concerns? You have published over 320 peer-reviewed scholarly articles and led many efforts funded by NIH and others. Can you describe the key findings from your most recent publication, “Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.” You are the Cleveland Family Endowed Pediatric Research, School of Medicine Professor of Human Genetics, Graduate School of Public Health, and the Director of the Center for Rare Disease Therapy, UPMC Children’s Hospital of Pittsburgh. In your article titled “Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease,” you mentioned that the movement from the basic science laboratory to clinical trials is still hampered by a regulatory system rooted in traditional trial design and requires a fresh assessment of safe ways to obtain approval for new drugs. You proposed the development and scaling of nucleic acid-based therapies. Could you share this possibility with our listeners and what challenges need to be overcome to deliver them safely with appropriate evaluation and long-term follow-up? Can you share any stories of inspiration that keep you going? Anything else you’d like to share? Thank you for your efforts in conceptualizing the NBSTRN and establishing a network of stakeholders that includes health professionals, researchers, state programs and families, and advocates. Do you have advice for this community and how they can help to realize and capitalize on the fifteen years of NBSTRN? You are involved in training the new generation of medical geneticists. What do you tell them about newborn screening research? What does NBS research mean to you?