, 2022-08-04 12:00:00,
Genetic testing once was offered only to people with rare genetic conditions, or strong family histories of disease that spanned generations. But genetic testing is now being offered to healthy people, to detect if they carry a genetic change (often referred to as a “variant” or “mutation”) that may place them at high risk to develop preventable conditions, including some cancers and cardiac conditions.
In theory, population genetic testing makes sense. Instead of waiting for a person to die of a heart attack at a young age, we can learn of some of those risks ahead of time and mitigate them. This approach works not only for the person having testing and their family members – who may also be at risk – but also for our medical system, employers, and overarching health care costs that we, as a society, want to minimize.
But in practice, are we there yet? Cristi’s story illustrates that we still have a long way to go to make population genetic testing a win for the patient and their family members. Cristi is a certified genetic counselor who, like many of us, knew that several members of her family had developed cancer. But the cancers in Cristi’s family did not fit into a known hereditary cancer syndrome. Cristi’s mom had genetic testing based on her personal history of a brain tumor and melanoma, and family history of breast and prostate cancer, and no mutations were found in her DNA. So when Cristi signed up for genetic testing to check the customer experience of a population-based screening program offered by her company, she was surprised to learn that she carried a pathogenic variant in a gene called RET.
People who carry a RET variant have a syndrome called Multiple Endocrine Neoplasia 2A (MEN2A) and are considered to have an almost 100% chance of developing an aggressive type of thyroid cancer called medullary thyroid cancer. For this reason, people with MEN2A have traditionally been counseled to remove their thyroid gland preventively, often in childhood, before they develop cancer. MEN2A is also associated with a high risk of developing pheochromocytomas (tumors on the adrenal glands) and tumors of the parathyroid glands. Recommendations for people with MEN2A include specialized screening for these tumors each year, consisting of blood work and ultrasound imaging.
At first, Cristi’s healthcare team thought her genetic results must be a…
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