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VIDEO: Office-based hereditary cancer risk testing is doable


Key clinical point: Ob.gyns. can successfully integrate hereditary cancer risk testing into their practices.

Major finding: Office-based genetic testing increased from 1% to 4% of patients seen.

Study details: Prospective, single-arm process intervention study screening more than 4,000 women at 5 ob.gyn. practice sites.

Disclosures: Myriad Genetics sponsored the study. Dr. DeFrancesco reported no financial conflicts of interest. His coauthors included employees of Myriad Genetics, some with ownership interests.

Source: DeFrancesco, MS et al. ACOG 2018 poster 3K.



A simple process change helped increase the number of genetic screenings for hereditary cancer risk performed in community ob.gyn. practices, according to Mark S. DeFrancesco, MD, and his associates.

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Few community-based ob.gyns. routinely screen their patients for hereditary cancer risks, Dr. DeFrancesco said at the annual meeting of the American College of Obstetricians and Gynecologists, despite ACOG’s position that they are fully trained and qualified to do so. He and his colleagues studied an intervention aimed at streamlining and standardizing genetic assessment in their practice.

A team of physicians, staff, genetic counselors, and process engineers analyzed how hereditary cancer risk assessment was being done at five clinical sites of two community ob.gyn. practices – Dr. DeFrancesco’s practice in Waterbury, Conn., and that of Richard Waldman, MD, in Syracuse, N.Y. – then refined workflows and added tools to create a turnkey process for assessment and screening, Dr. DeFrancesco said.

Under the new process, patients completed a family cancer history in the exam room prior to seeing their physician. Genetic testing was offered to patients who met National Comprehensive Cancer Network (NCCN) guidelines for hereditary/familial high-risk assessment for breast and ovarian cancer (J Natl Compr Canc Netw. 2017 Jan;15[1]:9-20). Those who chose to be tested were able to provide a saliva sample in the office. Counseling was provided to appropriate patients.

The number of patients tested for hereditary risk of breast and ovarian cancer increased dramatically with the new process. During the 8-week period after the intervention, 4% (165) were tested out of 4,107 total patients seen; during the 8 weeks preceding, 1% (43) of 3,882 patients were tested.

Overall, 92.8% (3,811) of patients seen after the intervention provided a family cancer history. Almost a quarter – 23.5% (906) – met NCCN criteria for genetic testing.

A total of 318 patients agreed to undergo genetic testing and 165 (51.9%) completed the process. Nine patients (5.5%) were found to carry a pathogenic gene variant associated with hereditary breast and/or ovarian cancer or Lynch syndrome, Dr. DeFrancesco and colleagues reported.

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