The rise of the empowered patient

03/10/2014 | San Diego Union-Tribune

A woman who diagnosed her own rare genetic disease represents today's "empowered patient," said cardiologist Dr. Eric Topol, who interviewed her at the Future of Genomic Medicine conference. Kim Goodsell identified the cause of her irregular heartbeat and other symptoms as a type of Charcot-Marie-Tooth disease, and she pressed her physicians for genetic testing. One of her doctors subsequently listed her as a co-author of a case study he is preparing to present to the Heart Rhythm Society, saying she did the majority of the work.

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