What patients and families need to know
Genetic testing in a post genome world
Marshall Summar, M.D., Children's National Director of Rare Disease Institute, discusses genetic testing in a post genome world.
The use of human DNA in diagnostics has exploded in recent years. Going from the detection of a handful of conditions to over 6,000 diseases and thousands of more unknown ones, presents challenges and opportunities to the field. Misperceptions about the utility of testing abound and are often overshadowed by the hype surrounding the field. This discussion will attempt to put some framework on the topic and discuss areas where it is useful and where it may not be. The surrounding patient supports necessary for genetic testing will also be discussed. The audience should come away with a better understanding of when to used DNA testing, what tests to use, what support is needed for the patient, and the challenges currently facing the field.
About the Expert
Division Chief, Genetics and Metabolism
Director, Rare Disease Institute
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