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Randomized Controlled Trial
. 2018 Aug;170(3):517-524.
doi: 10.1007/s10549-018-4773-3. Epub 2018 Apr 2.

Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients

Marc D Schwartz  1   2 , Beth N Peshkin  3   4 , Claudine Isaacs  3   4 , Shawna Willey  3   4 , Heiddis B Valdimarsdottir  5   6 , Rachel Nusbaum  7 , Gillian Hooker  8 , Suzanne O'Neill  3   4 , Lina Jandorf  5 , Scott P Kelly  9 , Jessica Heinzmann  10 , Aliza Zidell  11 , Katia Khoury  3
Affiliations
Randomized Controlled Trial

Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients

Marc D Schwartz et al. Breast Cancer Res Treat. 2018 Aug.

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.

Trial registration: ClinicalTrials.gov NCT00262899.

Keywords: BRCA1; BRCA2; Contralateral mastectomy; Genetic counseling.

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Conflict of interest statement

Conflict of Interest

The authors declare that they have no conflicts of interest.

Figures

Figure 1
Figure 1
Study Flow Chart
Figure 2
Figure 2
Uptake of Genetic Counseling by Study Group
Figure 3
Figure 3
Uptake of Genetic Testing by Study Group
See this image and copyright information in PMC

References

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