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Ask the Experts: Developments in Genetic Testing

Bruce Korf

korf

Bruce R. Korf, MD, PhD, is co-director of the UAB-Hudson Alpha Center for Genomic Medicine. He is the past president of the Association of Professors of Human and Medical Genetics, past president of the American College of Medical Genetics and Genomics, and current president of the ACMG Foundation for Genetic and Genomic Medicine.

What exciting developments in genetic testing should we expect to see in 2015? “Sequencing the component of the human genome that encodes for protein (referred to as the “exome”) is becoming more and more common, both for diagnosis of rare genetic disorders and cancer. In the upcoming year I think we will see a gradual increase in the use of genome sequencing, which will provide better coverage of protein-encoding regions, and ultimately reveal variants that are related to disease in areas of the genome that do not encode protein.”

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Jenni Whalen

Jenni Whalen

    Jenni Whalen is the Executive Assistant of Editorial at Upworthy. She was previously MedTech Boston's Managing Editor and has an MS in Journalism from Boston University, as well as a BA in Psychology from Bucknell University. Whalen has written for Greatist, Boston magazine, AZ Central Healthy Living and the New England Journal of Medicine, among other places. She has also worked as a conference planner, ghost writer, researcher and content developer.

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