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Genetic Linkage

Genetic uncertainty: When research participants should be told that their test results have changed

"Do you mind if we take one more sample?" asked the endocrinologist who had already stuck six needles into the bulge in my neck that would turn out to be thyroid cancer. "It's for a research study."


"On what?"


"Something called p53."


That's a tumor suppressor, a gene that lies at the crux of cancers triggered by environmental factors, like the 5 years of unprotected dental x-rays I'd had as a kid.


"I know what that is and hope I don't have a mutation. When will I get the results?"


"I'm afraid you won't. That's part of the protocol." My sample would be de-identified.


I forgot about it. Years later, I had genetic testing again, this time for breast cancer, from a blood sample sent to Invitae, a clinical testing lab. They applied their 80-gene cancer panel and threw in probes for another two dozen genes they were developing.


To continue reading, go to Genetic Literacy Project, where this post first appeared.


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