Identifying Patterns of Genetic Counseling Provided to Patients with BRCA Mutation

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Mutations in breast cancer susceptibility genes are known to increase the risk of inheriting breast cancer. Genetic testing enables persons to determine if they carry that mutation and are at a higher risk of developing cancer. Understanding that risk may help patients make treatment decisions.

Understanding genetic testing results is complicated, so national guidelines recommend genetic counseling for those considering or undergoing testing. In a recent study co-authored by RTI Health Solutions researchers and sponsored by Pfizer, investigators assessed how genetic counseling is utilized in patient care. 

Based on data extracted from medical records, researchers compared the type and amount of counseling based on whether the patient was treated in an academic or private setting. Data showed that 88% received counseling, with 18% receiving pre-test only, 28% post-test only, and 42% pre- and post-test. Patients treated in an academic setting were more likely to receive both pre- and post-testing and be counseled by a genetic counselor versus an oncologist. 

Researcher Rohan Parikh of RTI Health Solutions says, "We observed differences in the type and the proportion of patients who received genetic counseling based on the practice setting where the treatment took place. This disparity could be because of a lack of access to resources including genetic counselors and technology-based solutions such as telemedicine." Parikh went on to note, "As genetic testing becomes more common among patients with cancer, it will be critically important to effectively communicate the results and the implications to patients and caregivers."

To learn more about this research, reach out to one of the researchers below.

Genetic Counseling Patterns by Practice Setting Among Patients with Germline BRCA1/2 Mutated Advanced Breast Cancer: Results From a US Retrospective Medical Records Review Study.
Elias Obeid, Rohan C. Parikh, Elizabeth Esterberg, Bhakti Arondekar, Abigail Hitchens, Lillian Shahied Arruda, Alexander Niyazov. Presented at the 2020 Virtual NSGC 39th Annual Conference.

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