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William J. Gradishar, MD, FACP, FASCO

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Researchers Share Plan to Improve Genetic Testing and Counseling in Patients With Breast Cancer

By: Chris Schimpf, BS
Posted: Friday, August 4, 2023

A large, multisite study published in JCO Oncology Practice explored ways to increase adherence to National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for genetic screening, counseling, and testing in patients with breast cancer. Citing data suggesting that only 35% of eligible patients receive recommended genetic referrals—with lower rates among underserved populations—David M. Waterhouse, MD, MPH, of Oncology Hematology Care, Cincinnati, and colleagues created and implemented protocols to apply NCCN Guidelines for germline genetic testing to all new patients with breast cancer. Over a 2-year period, the investigators observed significant increases in adherence among participants and concluded that educating providers, imbedding NCCN Guidelines in provider notes, standardizing workflows, and including discrete data fields in electronic health records were effective solutions.

“With the recent publications of data sets demonstrating positive results using therapies targeting specific mutations across multiple malignancies, the importance of germline genetic testing only grows in significance,” the researchers noted. “Our quality initiative was directed at all patients within our large, diverse community-based practice. The program’s growth and financial return outweighed the investment for training and certification of additional genetic specialists, confirming the financial feasibility, profitability, sustainability, and potential for scaling of the model in both community oncology and academic settings.”

A total of 1,203 patients with breast cancer were included in the study, nearly all (99%) of whom were screened according to NCCN Guidelines. Of those who were screened, 631 (52.5%) met referral/testing criteria, and 585 of those individuals (92.7%) were referred to a genetic specialist (7% had previous referrals). A total of 449 patients (71%) agreed to the referral, whereas 136 (21.5%) refused.

The investigators noted a halo effect of an increase in genetics appointments among patients with other cancer diagnoses. They believe this effect suggests the possibility of applying their findings to other types of disease in the future.

Disclosure: For full disclosures of the study authors, visit ascopubs.org.


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