Genetic testing technology is rapidly evolving, altering the testing landscape as panels expand to multi-gene and whole genome and exome sequencing become accessible alternatives. With more options available than ever before, navigating decision-making in a clinical setting can quickly become complicated and overwhelming. To discuss the intricacy of this decision-making process, PhenoTips invited Dr. Olaf Bodamer, Dr. Ian Krantz, and Dr. Austin Larson.
Dr. Bodamer was recruited at Boston Children’s Hospital as the Associate Chief for Genetics and Genomics in 2015. Since then, he has built an established research laboratory at Boston Children’s Hospital, is the director of the Kabuki syndrome program, and has a busy clinical practice where he sees individuals with complex genetic disorders. He is a member of several Editorial and Scientific Advisory Boards, including Molecular Genetics and Metabolism, Journal of Inherited Diseases and Translational Medicine, and of Patient Organizations respectively.
Dr. Krantz is Director of the Roberts Individualized Medical Genetics Center, Director of the Center for Cornelia de Lange Syndrome and Related Diagnoses, PI of a postdoctoral Medical Genetics Research Training Grant (T32) at The Children’s Hospital of Philadelphia, and Medical Director of the Master’s Program in Genetic Counseling at the Perelman School of Medicine at the University of Pennsylvania. His research lab has focused on projects studying the molecular etiologies of developmental diagnoses. Translationally he has been at the forefront of adapting new genomic technologies in the clinical setting and studying how this evolving, complex and often unclear diagnostic information is understood by, and the impact it has on, the clinicians/families involved.
Dr. Larson practices at Children’s Hospital Colorado and is on the faculty of the University of Colorado School of Medicine. He is board-certified in pediatrics, medical genetics and biochemical genetics. He is the program director for the Medical Genetics and Genomics residency program at the University of Colorado. His clinical and research interests include mitochondrial diseases, congenital disorders of glycosylation, rural outreach and application of new diagnostic techniques in the clinic and inpatient settings.
In this panel discussion moderated by Dr. Pawel Buczkowicz, leaders in the adoption of genomic technologies for the clinical setting will address:
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Panel vs. WGS tests: which to employ for each case how to evaluate which is most appropriate
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The challenges with each testing system
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The test most likely to become the norm, and the test evaluation trends currently in place
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Changes to the infrastructure required to enable the future of testing practices
