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ACOG Backs ‘Cascade Testing’ for Cancer-Related Mutations

ACOG Backs ‘Cascade Testing’ for Cancer-Related Mutations

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Ob/gyns should provide genetic counseling and testing for blood relatives of patients with known cancer mutations, otherwise known as “cascade testing,” the American College of Obstetricians and Gynecologists (ACOG) said.

These tests may help to save the lives of or at least improve the quality of life of both patients and family members and have been shown to be more cost effective than whole-gene sequencing tests, said the Committee on Gynecologic Practice in a statement published in Obstetrics and Gynecology.

Because women only have to be tested for certain mutations, the authors said, the process is less expensive. They pointed out that more patients with breast, ovarian, endometrial, and colon cancer are also being identified as having specific genetic mutations, such as BRCA1 and BRCA2, or mutations in “DNA mismatch repair genes” (MLH1, MSH2, MSH6, PMS2 and EpCAM deletions) associated with Lynch syndrome, a specific condition linked with an increased risk of endometrial, ovarian, and colon cancer.

The authors went through the process, explaining that a patient will often receive a letter from another provider if a specific mutation is identified in a blood relative, which recommends specific genetic testing for the patient. The authors added that they expect these types of requests to increase for gynecologic cancer, because of “a corresponding increase in evidence-based guidance from multiple professional societies that recommend genetic assessment of women with certain types of gynecologic cancer or risk factors for those types of cancer.”

If ob/gyns are not fully trained or qualified to counsel patients themselves, they should refer a patient to a genetic counselor or a medical or gynecologic oncologist, the authors said. Furthermore, the test should be ordered only after the patient has decided on testing and is counseled about outcomes. Once results are in, different preventive services can be recommended to the patient, who should be counseled to tell her family. However, the authors stressed that it is “neither required nor appropriate” for an ob/gyn to contact or notify at-risk family members.

“Ob-gyns have to be prepared for all of the steps in cascade testing,” Kristen Matteson, MD, lead committee chair, said in a statement. “Most importantly, we must help patients navigate what is often a complex and emotional process. It’s vital that ob-gyns are prepared with information and resources to help women make informed and timely choices about available options and the appropriate next steps if further testing is desired.”

The authors emphasized that ob/gyns should not only help patients to overcome barriers to testing, but to encourage public health efforts to increase hereditary testing for gynecologic cancer. They also noted that the CDC has certain initiatives and toolkits to increase the uptake of genetic testing for hereditary cancer.

The authors disclosed no conflicts of interest.


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