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

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.

Gynecologic Cancer Risk and Genetics: Informing an Ideal Model of Gynecologic Cancer Prevention

“…High uptake of direct-to-consumer genetic testing demonstrates high general interest; however, products through private ancestry/health companies are neither clinical nor diagnostic. Pricing of private clinical testing at $200–400 US is expensive for most individuals [ 44 , 53 ].…”

“…Studies implementing versions of genetic population-based testing in various countries have demonstrated that wide-scale implementation can provide cancer prevention without adversely affecting participants (select studies listed in Table 1 ). Population-based BRCA testing can identify carriers of HCS in individuals with previous cancer diagnosis [ 39 ], those of Ashkenazi Jewish descent [ 7 , 40 , 41 , 42 ], and in the general population [ 8 , 9 , 43 , 44 ]. While BRCA1 and BRCA2 are the most well-studied genes, inclusion of other HCS genes will improve cancer risk prediction [ 8 , 9 , 43 ].…”

“…While BRCA1 and BRCA2 are the most well-studied genes, inclusion of other HCS genes will improve cancer risk prediction [ 8 , 9 , 43 ]. In many studies, participants have volunteered for HCS testing [ 7 ] even when there are impediments such as financial cost involved [ 44 ], and it has been shown that receiving population-based testing results does not adversely affect participant’s long-term psychological wellbeing or quality of life [ 7 , 40 , 41 , 42 ]. These participants have high rates of follow up with preventative care [ 7 , 40 , 44 ].…”

Barriers, interventions, and recommendations: Improving the genetic testing landscape

“…Studies evaluating population-based models have found that population-based testing identifies carriers that would be missed by traditional criteria, does not result in increased psychosocial concerns, can result in clinically actionable information, and can be cost-effective if implemented at 30 years old or earlier ( 52 , 54 – 56 ). In population testing, genetic counseling is generally reserved for the post-test setting for those identified with positive results (i.e., pathogenic variants), similar to providing specialized counseling for an individual with high cholesterol on routine screening.…”

The risks of cancer in older women with BRCA pathogenic variants: How far have we come?

“…18 Furthermore, we support consumer-based models of testing such as the Screen Project in Canada, whereby testing is made available to all Canadians on a pay-for-service basis, with extensive follow-up for individuals identified to carry a pathogenic variant. 19 It is important that after a positive genetic test, women are provided with up-to-date and accurate information regarding cancer risk and preventive measures. It may be helpful to use the graphs provided here to communicate risk profiles under various scenarios.…”