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Health and medicine/Health care/Health counseling/Genetic counseling

New results suggest that prion protein mutations differ in how likely they are to cause rare and fatal disorders.

New whole-genome sequencing technology can diagnose genetic disorders in newborn babies in intensive care units in just a few days, according a new study appearing in the 3 October issue of the journal Science Translational Medicine.

The technique’s main revolutionary feature is speed—a 50-hour turnaround time for genetic results compared to the few weeks needed using current methods. The genetic test could potentially shorten the time it takes to get a diagnosis, jumpstart any available treatments, and lessen the time to genetic counseling for anxious parents.

A recent AAAS seminar explored the potential consequences of direct-to-consumer genetic testing—and the appropriate role of government regulation—through the lens of two individuals who went through genetic testing.