Marc D Schwartz1,2, Beth N Peshkin3,4, Claudine Isaacs3,4, Shawna Willey3,4, Heiddis B Valdimarsdottir5,6, Rachel Nusbaum7, Gillian Hooker8, Suzanne O'Neill3,4, Lina Jandorf5, Scott P Kelly9, Jessica Heinzmann10, Aliza Zidell11, Katia Khoury3. 1. Georgetown Lombardi Comprehensive Cancer, Georgetown University, 3300 Whitehaven St., NW, Suite 4100, The Harris Building, Washington, DC, 20007, USA. schwartm@georgetown.edu. 2. Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research, Georgetown University, Washington, DC, USA. schwartm@georgetown.edu. 3. Georgetown Lombardi Comprehensive Cancer, Georgetown University, 3300 Whitehaven St., NW, Suite 4100, The Harris Building, Washington, DC, 20007, USA. 4. Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research, Georgetown University, Washington, DC, USA. 5. Department of Population Health Science and Policy, Center for Behavioral Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 6. Department of Psychology, Reykjavik University, Reykjavik, Iceland. 7. School of Medicine, University of Maryland, Baltimore, MD, USA. 8. Concert Genetics, Inc, Franklin, TN, USA. 9. National Cancer Institute, Bethesda, MD, USA. 10. Atlantic Health Services, Carol G. Simon Cancer Center, Summit, NJ, USA. 11. Hackensack University Medical Center, Hackensack, NJ, USA.
Abstract
PURPOSE:Breast cancer patients who carry BRCA1/BRCA2 gene mutations may consider bilateral mastectomy. Having bilateral mastectomy at the time of diagnosis not only reduces risk of a contralateral breast cancer, but can eliminate the need for radiation therapy and yield improved reconstruction options. However, most patients do not receive genetic counseling or testing at the time of their diagnosis. In this trial, we tested proactive rapid genetic counseling and testing (RGCT) in newly diagnosed breast cancer patients in order to facilitate pre-surgical genetic counseling and testing. METHODS: We recruited newly diagnosed breast cancer patients at increased risk for carrying a BRCA1/2 mutation. Of 379 eligible patients who completed a baseline survey, 330 agreed to randomization in a 2:1 ratio to RGCT (n = 220) versus UC (n = 108). Primary outcomes were genetic counseling and testing uptake and breast cancer surgical decisions. RESULTS:RGCT led to higher overall (83.8% vs. 54.6%; p < 0.0001) and pre-surgical (57.8% vs. 38.7%; p = 0.001) genetic counseling uptake compared to UC. Despite higher rates of genetic counseling, RGCT did not differ from UC in overall (54.1% vs. 49.1%, p > 0.10) or pre-surgical (30.6% vs. 27.4%, p > 0.10) receipt of genetic test results nor did they differ in uptake of bilateral mastectomy (26.6% vs. 21.8%, p > 0.10). CONCLUSIONS: Although RGCT yielded increased genetic counseling participation, this did not result in increased rates of pre-surgical genetic testing or impact surgical decisions. These data suggest that those patients most likely to opt for genetic testing at the time of diagnosis are being effectively identified by their surgeons.
RCT Entities:
PURPOSE:Breast cancerpatients who carry BRCA1/BRCA2 gene mutations may consider bilateral mastectomy. Having bilateral mastectomy at the time of diagnosis not only reduces risk of a contralateral breast cancer, but can eliminate the need for radiation therapy and yield improved reconstruction options. However, most patients do not receive genetic counseling or testing at the time of their diagnosis. In this trial, we tested proactive rapid genetic counseling and testing (RGCT) in newly diagnosed breast cancerpatients in order to facilitate pre-surgical genetic counseling and testing. METHODS: We recruited newly diagnosed breast cancerpatients at increased risk for carrying a BRCA1/2 mutation. Of 379 eligible patients who completed a baseline survey, 330 agreed to randomization in a 2:1 ratio to RGCT (n = 220) versus UC (n = 108). Primary outcomes were genetic counseling and testing uptake and breast cancer surgical decisions. RESULTS: RGCT led to higher overall (83.8% vs. 54.6%; p < 0.0001) and pre-surgical (57.8% vs. 38.7%; p = 0.001) genetic counseling uptake compared to UC. Despite higher rates of genetic counseling, RGCT did not differ from UC in overall (54.1% vs. 49.1%, p > 0.10) or pre-surgical (30.6% vs. 27.4%, p > 0.10) receipt of genetic test results nor did they differ in uptake of bilateral mastectomy (26.6% vs. 21.8%, p > 0.10). CONCLUSIONS: Although RGCT yielded increased genetic counseling participation, this did not result in increased rates of pre-surgical genetic testing or impact surgical decisions. These data suggest that those patients most likely to opt for genetic testing at the time of diagnosis are being effectively identified by their surgeons.
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