Family (Still) Matters

July 7, 2017
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By Leila Jamal

Every genetic counselor knows the struggle of trying to explain our profession succinctly at a cocktail party. “No, I don’t make designer babies, heh, heh,” says one. “I’m like a translator, but for science — and with empathy!” says another. Since I started working in a cancer clinic, this one-liner has worked best: “I help people understand if cancer runs in their families, and then I help them decide what to do if it does.”

Stated that way, it sounds pretty simple. Yet in some circumstances, it’s not, because there may be obstacles to involving a patient’s relatives in the genetic counseling process. Family members can be spread across geographical boundaries, estranged from one another, or not know where their health records are stored. Some physicians are hesitant to refer a patient to a genetics clinic without some clear family history of cancer. And some insurers don’t see the need for a healthy individual to make an appointment at a cancer center.

But as genomic testing is used more broadly in care settings, family involvement in genetic counseling and testing should be a key part of the process — a necessity, not an afterthought. Accurate family history information is necessary to assess disease risk and may even reveal that the patient in front of you is not the right person to test. Testing the correct person in a family can increase the chances of getting a meaningful result. Relatives may also be tested when a patient’s results are difficult to interpret; those results can help determine if a genetic variant is associated with disease in a family. Perhaps most obviously, when genetic testing reveals a diagnosis, so-called “cascade” testing can be used to identify relatives who are at increased risk of disease. Cascade genetic testing, used to identify which individuals might (or might not) need heightened screening, preventive surgery, or a specific drug, is an example of precision medicine.

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