By Allison Proffitt
March 29, 2016 | A group of researchers in the Familial Breast Cancer Research Unit at Women’s College Hospital (WCH) in Toronto, Canada, are launching a population-based study called The Screen Project that will offer genetic testing for BRCA1 and BRCA2 gene mutations to any Canadians over the age of 18 for $165 USD. Veritas Genetics will be performing the BRCA genetic testing.
The project has been a long labor of love for Mohammad Akbari, director of the Research Molecular Genetics Laboratory at WCH, and Steven Narod, the director of the Familial Breast Cancer Research Unit at WCH. Akbari and Narod are co-principle investigators on the study. Akbari has been working toward a population-wide BRCA testing program in Canada since he joined the faculty of the University of Toronto in 2012 (the university and WCH are closely affiliated; Akbari has appointments at both institutions).
He presented his vision at The Clinical Genomics Conference in May 2014; Diagnostics World checked in with him about a year later in September 2015. Then, he was hoping to reach 30-60-year-old women in Ontario, but having funding difficulties. Still he was determined: “Our ethical responsibility as a group of academic scientists is to show the benefit of such population-based genetic testing,” he said at the time.
In an email this week, Akbari wrote: “It has been a very long road to get here but I am happy that we are finally getting there!”
Setting up a population-wide screening program is no mean task. “We had lots of problems establishing a lab here in Ontario for offering this test,” Akbari recounts to Diagnostics World. “First we tried to partner with current existing clinical laboratories but they preferred to test less samples at a larger margin of benefit rather than testing more sample with a less margin of benefits. In other words, getting the same amount of revenue with less hassle. Then we tried to set up a lab ourselves.”
While struggling with funding and regulatory hurdles, in late 2015, Akbari and his colleagues heard of companies in the United States doing the same kind of project they were after. “We thought that if we cannot set up… on Canadian soil, then we can at least use it as a service through US-based companies.”
Akbari and his colleagues were committed to keeping the price low—about $150—and the scope limited. While Akbari is convinced of the worth of population-wide BRCA screening, he believes that consumer genetic testing should be limited to genes that are highly penetrant, for which mutation interpretation is well established, and for which we know what do for the carriers clinically. “BRCA1/2 are the only two genes that have these criteria,” he says.
Veritas Genetics was the only partner that fit both the price and scope. The company agreed to a $150 test with $15 shipping. The researchers tested the Veritas system with blind DNA samples with different known mutations. “They picked them all, even the difficult ones,” Akbari said.
Guided Testing
Akbari calls the project “guided DTC” or guided direct-to-consumer genetic testing. There are no geographic or age limits to the study; any adult Canadian is welcome to take part. But WCH does plan to intervene for positive tests.
Interested individuals can register online at www.thescreenproject.ca. (Veritas doesn’t otherwise offer testing in Canada, so The Screen Project is the only way to get both the testing, and the negotiated price.) On the registration site, patients will have access to an informational video and educational materials to learn more about hereditary cancer and genetic testing.
Once participants have provided the necessary information and consent, they will be directed to Veritas’ website to submit payment and have a saliva collection kit shipped to their home. Those who are unable to afford the cost of the test will be eligible for financial assistance.
The $165 test looks for changes only in the BRCA1 and BRCA2 genes. “The test covers both small nucleotide changes by sequencing and large rearrangements by fragment analysis,” Akbari said.
Saliva samples will then be tested at Veritas’ laboratory in Massachusetts, and the results will be reported within two to four weeks. Negative results will be returned directly to the consumer; positive results will be returned to WCH.
“Positive results will be given to our team to communicate to the patients. No positive result will be disclosed by Veritas to the patients,” Akbari explains. “We want to make sure that all the mutation carriers (positive results) receive the best medical care available to them.”
Individuals with positive results will be contacted by a genetic counsellor with WCH’s Familial Breast Cancer Research Unit. They’ll be offered genetic counseling at WCH to explore possible preventative options. If they are far from Toronto, they will be referred to a local clinic for genetic counseling. All of the counseling costs, Akbari says, are covered by the national health system.
“Our team, of course, will be available to answer their questions through the phone at any time, and we would follow up with them after a year to make sure that they are on the right track in terms of accessing to preventative measures,” Akbari says.
Feasibility At Large
Approximately one in 200 Canadians have a BRCA1 or BRCA2 mutation which puts women at a higher lifetime risk of developing breast and ovarian cancer, while male mutation carriers are at an increased risk of developing prostate and other cancers. Hereditary mutations in the BRCA1 or BRCA2 gene are responsible for 5-10% of breast cancers and 10-15% of ovarian cancers.
But these numbers are estimates. The goals of The Screen Project are to measure the feasibility of population-wide BRCA testing; determine the frequency of BRCA1 and BRCA2 mutations in unselected Canadians; measure levels of cancer-worry among participants with a positive or negative genetic test result; and estimate the number of breast and ovarian cancers prevented in Canada through a guided direct-to-consumer approach for BRCA genetic testing.
Ultimately, Akbari hopes the study will, “reduce the rate of breast and ovarian cancer incidence and mortality, and also improve the survival of the prostate and pancreatic cancer patients by offering a better treatment for those who are BRCA mutation carriers.”
The research team isn’t sure what kind of response the program will have. They plan to report their findings after the first 10,000 tests or after three years, whichever comes first, though Akbari hopes to get 10,000 test results within the first year.
Akbari expects the testing to be useful, and if the data supports that hypothesis, he hopes it will be integrated into Canada’s health system.