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. 2021 Apr 15;13(8):1894.
doi: 10.3390/cancers13081894.

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

Steven A Narod  1   2 , Nicole Gojska  1 , Ping Sun  1 , Angelina Tryon  1 , Joanne Kotsopoulos  1   2 , Kelly Metcalfe  1   3 , Mohammad R Akbari  1   2
Affiliations

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

Steven A Narod et al. Cancers (Basel). .

Abstract

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.

Keywords: BRCA1; BRCA2; genetic counselling; genetic testing.

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Conflict of interest statement

M.R.A. has a financial interest in Genewise Inc. Other authors declare no conflict of interest.

Figures

Figure 1
Figure 1
The pedigrees for five BRCA mutation carriers have been shown. (A) Proband was denied testing because of not having pathological confirmation of cancers in her family members. (B) Proband was denied testing based on local testing criteria. (C) Proband was qualified for testing under healthcare system, however, she decided to do the testing through the Screen Project because of ease of access. (D) Testing was ordered by the mother who was a known BRCA mutation carrier for her two adult sons, and both were positive. (+) sign denotes mutation carriers.
See this image and copyright information in PMC

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