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Psychosocial Interventions for Women with a BRCA1 or BRCA2 Mutation: A Scoping Review
Open AccessArticle

The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada

1
Women’s College Research Institute, Women’s College Hospital, Toronto, ON M5S 1B2, Canada
2
Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5T 3M7, Canada
3
Bloomberg Faculty of Nursing, University of Toronto, Toronto, ON M5T 1P8, Canada
*
Authors to whom correspondence should be addressed.
Academic Editor: Viviana Bazan
Cancers 2021, 13(8), 1894; https://doi.org/10.3390/cancers13081894
Received: 11 March 2021 / Revised: 7 April 2021 / Accepted: 12 April 2021 / Published: 15 April 2021
(This article belongs to the Special Issue Changing Landscape of Hereditary Breast and Ovarian Cancer)
The Screen Project was initiated in 2017 to offer BRCA1 and BRCA2 genetic screening to all Canadians over the age of 18 who wish to know their mutation status. Study subjects registered online and were sent a saliva sample kit. Of the 1269 tested individuals between March 2017 and January 2019, 30 (2.4%) had a pathogenic mutation in BRCA1 or BRCA2 (20 women and 10 men). Seventy-five percent of the female mutation carriers underwent a bilateral mastectomy and/or salpingo-oophorectomy within a year of receiving a positive result. The study results endorse a model where genetic testing is offered directly to the consumer via a home-delivered kit and a saliva sample, and some clinical guidance for those with positive test results. We believe that testing has substantial benefits, and therefore, we would like to expand testing to as many eligible women as possible.
There is limited information of the outcomes of direct-to-consumer testing for BRCA1 and BRCA2 mutations. The Screen Project was initiated in 2017 to offer BRCA1 and BRCA2 genetic screening to all Canadians over the age of 18 who wish to know their mutation status. Patients enrolled in the study from 2017 to 2019 and were followed for one year after the receipt of a genetic test result. Study subjects registered online and were sent a saliva sample kit, which was shipped to the reference laboratory. Pre-test genetic counselling and counselling for mutation-negative subjects was optional and at the individual’s discretion. There were 1269 tested individuals between March 2017 and January 2019. A total of 1157 (93%) were women and 87 (7%) were men. Sixty-six percent had a first- or second-degree relative with breast or ovarian cancer. Of the 1269 tested individuals, 30 (2.4%) had a pathogenic mutation in BRCA1 or BRCA2 (20 women and 10 men). Seventy-five percent of the female mutation carriers underwent a bilateral mastectomy and/or salpingo-oophorectomy within a year of receiving a positive result. Genetic counselling was available at no cost to all participants but was requested by only 5% of the non-carriers. The study subjects expressed a high degree of satisfaction with the process. View Full-Text
Keywords: BRCA1; BRCA2; genetic testing; genetic counselling BRCA1; BRCA2; genetic testing; genetic counselling
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MDPI and ACS Style

Narod, S.A.; Gojska, N.; Sun, P.; Tryon, A.; Kotsopoulos, J.; Metcalfe, K.; Akbari, M.R. The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada. Cancers 2021, 13, 1894. https://doi.org/10.3390/cancers13081894

AMA Style

Narod SA, Gojska N, Sun P, Tryon A, Kotsopoulos J, Metcalfe K, Akbari MR. The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada. Cancers. 2021; 13(8):1894. https://doi.org/10.3390/cancers13081894

Chicago/Turabian Style

Narod, Steven A.; Gojska, Nicole; Sun, Ping; Tryon, Angelina; Kotsopoulos, Joanne; Metcalfe, Kelly; Akbari, Mohammad R. 2021. "The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada" Cancers 13, no. 8: 1894. https://doi.org/10.3390/cancers13081894

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