Connect Sign InGenetic Data Sharing and Reanalysis of Genomic Test Results: Challenges and Benefits to Implementation
Clinical laboratories are increasingly called upon to share genetic testing data, as well as reevaluate results from previously performed tests for hereditary conditions. These efforts create unique opportunities and challenges during the diagnostic workup for new and previously tested patients. This presentation will provide an overview of current practices and policies surrounding genetic data sharing and variant reanalysis, with shared stories on successes and hurdles overcome to help patients with rare genetic disorders end their diagnostic odyssey.
Originally published on September 23, 2020, in Salt Lake City, Utah.
Dr. Erica F. Andersen is a section chief of cytogenetics and genomic microarray at ARUP Laboratories. She is also an assistant professor of clinical cytogenetics at the University of Utah School of Medicine. Dr. Andersen received her doctorate degree in genetics from the University of Wisconsin before completing a fellowship in clinical cytogenetics at the University of Utah. Dr. Andersen is board certified and her research interests include constitutional cytogenetics and oncology cytogenetics.
Dr. Rong Mao is the section chief of molecular genetics and genomics at ARUP Laboratories and a professor of pathology at the University of Utah School of Medicine. She received her master’s degree in molecular pathology from Beijing Union Medical College and her medical degree from Capital University of Medicine in Beijing, China. She completed an otolaryngology residency at Tongren Hospital and a molecular genetics fellowship at Mayo Clinic. She is board certified by the American Board of Medical Genetics and Genomics, with a subspecialty in clinical molecular genetics, and she is also certified with the New York State Department of Health, with a subspecialty in genetic testing. She is a member of several professional societies, including American College of Medical Genetics and Genomics, Association for Molecular Pathology, and American Society of Human Genetics. Currently, Dr. Mao serves as the co-chair of the ClinGen Clinical Domain Metabolic Diseases Working Group. Her research interests include the genotype-phenotype correlations in inborn errors of metabolism and genetic diseases in the RAS/MAPK pathway; she is also involved with implementing next-generation sequencing techniques into molecular diagnostics.
