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Factors in Genetic Testing Decisions Among Women With a Personal and Family History of Breast Cancer


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In a study reported in the Journal of Oncology Practice, Scott et al identified several factors that motivated breast cancer survivors with high genetic risk to undergo genetic testing and found that clinicians often failed to discuss all relevant factors in decision-making.

“Among patients with high genetic risk, clinicians’ recommendations, potential treatment implications, and protections against discrimination were motivating factors to undergo genetic testing, but fewer than half [of respondents] recalled clinicians providing all this information, and this did not improve over time. Clinicians influence testing decisions and should inform patients about legal protections and treatment implications.”
— Scott et al

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Study Details

The study involved data from an online survey of 1,322 respondents (83% white) administered by a hereditary cancer nonprofit organization (Facing Our Risk of Cancer Empowered). Surveys were conducted between October 2017 and March 2018.

Key Findings

Among all respondents, 46% had breast cancer diagnosed at age < 45 years, 61% had a first-degree relative with cancer, and 84% underwent genetic testing, with a risk-associated pathogenic variant being found in 56% of these patients.

Overall, 86% of patients who underwent testing were very satisfied with their testing decision vs 34% of patients who did not undergo testing.

Overall, 55% of respondents who did not undergo testing stated that they would consider testing in the future; the most frequently cited factor that would influence them to talk to a clinician about testing was learning that testing is frequently covered by health insurance (55%).

Among all respondents, the most common factors cited as encouraging genetic testing included relatives’ cancer risk (75%), clinician recommendations (68%), and potential treatment implications (67%).

The most common factors that led to consideration of not testing were concerns about insurance coverage of testing (14%), cost of testing (14%), and job or insurance discrimination (9%). Overall, 39% of respondents reported that a clinician stated that genetic discrimination is illegal.

Many respondents reported that clinicians informed them about inheritance patterns (65%), surgical implications (65%), and other cancer risks (66%), but fewer reported that clinicians informed them about results having potential implications for clinical trial eligibility (38%) or availability of targeted therapies (14%).  

Patients who had genetic counseling were twice as likely to report that they were informed by clinicians about all queried topics.

Survey results did not vary by year of breast cancer diagnosis.

The investigators concluded, “Among patients with high genetic risk, clinicians’ recommendations, potential treatment implications, and protections against discrimination were motivating factors to undergo genetic testing, but fewer than half [of respondents] recalled clinicians providing all this information, and this did not improve over time. Clinicians influence testing decisions and should inform patients about legal protections and treatment implications.”

Allison W. Kurian, MD, of the Women’s Clinical Cancer Genetics Program, Stanford University School of Medicine, is the corresponding author for the Journal of Oncology Practice article.

Disclosure: The study was supported by AstraZeneca, the Suzanne Pride Bryan Fund for Breast Cancer Research, Jan Weimer Faculty Chair in Breast Oncology, and BRCA Foundation. For full disclosures of the study authors, visit jop.ascopubs.org.

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.
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