Editor's Note: Marshall L. Summar, MD, is Chief of the Division of Genetics and Metabolism and the Margaret O'Malley Chair of Molecular Genetics at Children's National Medical Center in Washington, DC. He is an internationally recognized expert in translational studies with an emphasis on developing clinical applications based on molecular genetics research. In an interview for Medscape, Dr. Summar spoke with Brendan C. Lanpher, MD, Clinical Director in the Division of Genetics and Metabolism, and Sean E. Hofherr, PhD, Director of Molecular Genetics at Children's National. Their discussion focuses on real-world practical aspects and possible pitfalls of expanded genetic testing in this environment of rapid technological advances.
Expanding Horizons in Genetic Testing
Dr. Summar: I am here with Dr. Brendan Lanpher and Dr. Sean Hofherr. Dr. Hofherr is Director of the Molecular Genetics Program at Children's National Medical Center, and Dr. Lanpher is Clinical Director in the Division of Genetics and Metabolism at Children's National.
The topic today is next-generation testing, with some "dos and don'ts" and practical pointers. There has been a lot of talk, chatter, advertising, and hype over the past few years about next-generation expanded DNA testing, and I would like to discuss the practical aspects of these tests.
Brendan, what do you see as the current role of expanded genetic testing?
