Genetic testing for cancer risk has been recommended for more than 10 years; however, uptake of testing is still low at 20%. No best practices have been developed for health care systems to increase uptake of genetic testing, and studies to date have been conducted in high-resourced facilities, under optimal conditions.

In this oral presentation at the 47th Annual Oncology Nursing Society (ONS) Congress, Jeannine M. Brant, PhD, APRN, AOCN®, FAAN, a nurse scientist at Billings Clinic in Montana, and executive director of Clinical Science & Innovation at City of Hope in Duarte, California, described the preliminary results of a trial comparing 2 methods for encouraging patients to undergo genetic risk assessment and testing.

Approximately 5% to 10% of cancers are genetically inherited. Testing occurs most often after a potentially genetically transmissible cancer is diagnosed, prompting further individual and family testing. Identifying patients with a genetic mutation can prevent cancer or detect it at an earlier stage and dramatically improve morbidity and mortality.

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The Early Detection of Genetic Risk (EDGE) study is a randomized, controlled trial that compares 2 methods for encouraging patients to undergo testing for germline mutations: approach patient at a primary care visit (point of care) and contact outside an office visit via mailed letter (direct approach). Primary outcomes were the proportion of patients who completed risk assessment screening (a survey) and who completed genetic testing. Secondary outcomes were improved patient, provider, and health care leader literacy and attitudes regarding genetic testing and cost-effectiveness and budget effect of each screening strategy.

Participants were aged 25 years and older, and were from 12 primary care clinics in the northwestern United States. Those in the point-of-care group had attended a primary care visit and were not in clinic for labs or diagnostics. Those in the direct-approach group received a letter but had had a primary care visit within the last few months.

Of those approached to complete the risk assessment survey, 52.33% agreed. Participants found to be at risk were contacted by their primary care provider who referred them to a genetic counselor.

Of the 655 participants who were referred for genetic testing, 47 (7.18%) were found to have genetic mutations. An individualized previvor plan that outlines National Comprehensive Cancer Network (NCCN) patient surveillance and follow-up guidelines was provided to each high-risk participant.

Of those who declined to take the genetic screening survey, the top 3 reasons for not participating were “not interested,” “already approached at and/or completed screening at previous visit,” and “no relevant family history of cancer.”

Significant implications exist for cancer centers and oncology nurses as genetic risks for cancer are discovered. People will seek information from oncology professionals regarding risk reduction and health promotion strategies, Dr Brant explained. Some cancer centers have opened high-risk clinics to provide consultation and education for patients.

Overall, oncology nurses have opportunity to promote innovative primary care risk assessment and screening programs to identify family clusters and aid in the prevention and early detection of genetically transmissible malignancies, concluded Dr Brant.

Disclosures: This research was supported by the National Cancer Institute. One author declared an affiliation with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of disclosures.


Brant JM, Bowen D, Norquist B, Cain K, Besel J, Riemann L. Screening for genetically transmissible cancers: patient perspectives and implications for cancer care. Oral presentation at: 47th Annual ONS Congress; April 27-May 1, 2022; Anaheim, California.

This article originally appeared on Oncology Nurse Advisor