A few months ago, two sisters published an essay in The New York Times about their genetic testing journey, which started because their mother was found to have a mutation in one of the BRCA genes. People who have a mutation in one of the BRCA genes are at increased risk to develop several types of cancer, including those of the breast, ovary, prostate, and pancreas. Certified genetic counselors work with patients to determine whether they are good candidates for genetic testing and which genetic test is best for them based on their personal and family history of cancer and other factors. The sooner we know about these mutations, the sooner the healthcare team can offer patients and their families cancer screening and risk reducing options. These medical options may detect cancer sooner, when it is more likely to be curable. Some of the options significantly reduce the risk of ever developing certain cancers. Genetic testing can also be used to match patients with cancer to targeted precision medicines that may more successfully treat these cancers.

The sisters in the Times article, Leah and Emma, stated that they each had genetic testing at age 20. The testing revealed that Emma has the BRCA mutation found in their mother, but Leah does not. Emma is currently healthy but is at high risk to develop several types of cancer in her lifetime. BRCA-related cancers often occur at younger ages, so screening should generally begin by age 25. Emma will likely be advised to begin frequent screening with tools, such as mammograms and breast MRIs, that are not offered to other women her age who are at average risk to develop breast cancer. Because we’ve learned about this genetic risk before this person develops cancer, it’s a win, right?

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