My diagnostic odyssey: The limits of genetic testing
I am on a “diagnostic odyssey.” That term was unfamiliar to me until I spoke with Joy Larsen Haidle, president of the National Society of Genetic Counselors, whose members help patients determine whether genetic testing for diagnostic purposes makes sense for them. I have an epileptic condition, but despite repeated visits with specialists over several years, I haven’t yet identified a root cause. I’ve only been able to treat and moderate symptoms with medication, and I’m pursuing genetic testing to see if we can discover how the condition started in the first place. As Larsen Haidle explained, the “diagnostic odyssey” is the journey of patients like me who are trying to find out why they’re sick. But the promise of genetic testing cuts in different ways. It can serve as a hopeful option, provide a breakthrough, or lead to another dead end. That amounts to a crapshoot for patients like me. “For patients in that ‘diagnostic odyssey,’ there is definitely value to finding out what is [happening], so they can feel a little bit of power and limit the unknown,” Larsen Haidle told me. But “as smart as we think we have gotten, we cannot identify causes for all things yet.” Genetic testing has made great strides over the last 20 years, she noted, and it helps plenty of patients, particularly those suffering from some types of cancer. “I have been a genetic counselor for 20 years. In the span of m...
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