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Randomized Controlled Trial
. 2022 Jul 1;5(7):e2222092.
doi: 10.1001/jamanetworkopen.2022.22092.

Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial

Rita Kukafka  1   2   3 , Samuel Pan  2 , Thomas Silverman  1 , Tianmai Zhang  1 , Wendy K Chung  2   4 , Mary Beth Terry  2   5 , Elaine Fleck  6 , Richard G Younge  6 , Meghna S Trivedi  2   7 , Julia E McGuinness  2   7 , Ting He  8 , Jill Dimond  9 , Katherine D Crew  2   5   7
Affiliations
Randomized Controlled Trial

Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial

Rita Kukafka et al. JAMA Netw Open. .

Abstract

Importance: To promote the identification of women carrying BRCA1/2 variants, the US Preventive Services Task Force recommends that primary care clinicians screen asymptomatic women for an increased risk of carrying a BRCA1/2 variant risk.

Objective: To examine the effects of patient and clinician decision support about BRCA1/2 genetic testing compared with standard education alone.

Design, setting, and participants: This clustered randomized clinical trial was conducted at an academic medical center including 67 clinicians (unit of randomization) and 187 patients. Patient eligibility criteria included women aged 21 to 75 years with no history of breast or ovarian cancer, no prior genetic counseling or testing for hereditary breast and ovarian cancer syndrome (HBOC), and meeting family history criteria for BRCA1/2 genetic testing.

Interventions: RealRisks decision aid for patients and the Breast Cancer Risk Navigation Tool decision support for clinicians. Patients scheduled a visit with their clinician within 6 months of enrollment.

Main outcomes and measures: The primary end point was genetic counseling uptake at 6 months. Secondary outcomes were genetic testing uptake at 6 and 24 months, decision-making measures (perceived breast cancer risk, breast cancer worry, genetic testing knowledge, decision conflict) based upon patient surveys administered at baseline, 1 month, postclinic visit, and 6 months.

Results: From December 2018 to February 2020, 187 evaluable patients (101 in the intervention group, 86 in the control group) were enrolled (mean [SD] age: 40.7 [13.2] years; 88 Hispanic patients [46.6%]; 15 non-Hispanic Black patients [8.1%]; 72 non-Hispanic White patients [38.9%]; 35 patients [18.9%] with high school education or less) and 164 (87.8%) completed the trial. There was no significant difference in genetic counseling uptake at 6 months between the intervention group (20 patients [19.8%]) and control group (10 patients [11.6%]; difference, 8.2 percentage points; OR, 1.88 [95% CI, 0.82-4.30]; P = .14). Genetic testing uptake within 6 months was also statistically nonsignificant (13 patients [12.9%] in the intervention group vs 7 patients [8.1%] in the control group; P = .31). At 24 months, genetic testing uptake was 31 patients (30.7%) in intervention vs 18 patients (20.9%) in control (P = .14). Comparing decision-making measures between groups at baseline to 6 months, there were significant decreases in perceived breast cancer risk and in breast cancer worry (standard mean differences = -0.48 and -0.40, respectively).

Conclusions and relevance: This randomized clinical trial did not find a significant increase in genetic counseling uptake among patients who received patient and clinician decision support vs those who received standard education, although more than one-third of the ethnically diverse women enrolled in the intervention underwent genetic counseling. These findings suggest that the main advantage for these high-risk women is the ability to opt for screening and preventive services to decrease their cancer risk.

Trial registration: ClinicalTrials.gov Identifier: NCT03470402.

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Conflict of interest statement

Conflict of Interest Disclosures: Dr Terry reported receiving grants from the National Institutes of Health during the conduct of the study. No other disclosures were reported.

Figures

Figure.
Figure.. Study Flow Diagram
EHR indicates electronic health record.
See this image and copyright information in PMC

References

    1. Dorling L, Carvalho S, Allen J, et al. ; Breast Cancer Association Consortium . Breast cancer risk genes - association analysis in more than 113,000 women. N Engl J Med. 2021;384(5):428-439. doi: 10.1056/NEJMoa1913948 - DOI - PMC - PubMed
    1. Hu C, Hart SN, Gnanaolivu R, et al. A population-based study of genes previously implicated in breast cancer. N Engl J Med. 2021;384(5):440-451. doi: 10.1056/NEJMoa2005936 - DOI - PMC - PubMed
    1. Risch HA, McLaughlin JR, Cole DE, et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst. 2006;98(23):1694-1706. doi: 10.1093/jnci/djj465 - DOI - PubMed
    1. Anglian Breast Cancer Study Group . Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer. 2000;83(10):1301-1308. doi: 10.1054/bjoc.2000.1407 - DOI - PMC - PubMed
    1. Harter P, Hauke J, Heitz F, et al. Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PLoS One. 2017;12(10):e0186043. doi: 10.1371/journal.pone.0186043 - DOI - PMC - PubMed

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