Testing is to be welcomed, because a positive result gives patients and their clinicians the opportunity to more closely monitor their health and assess their options.
Women who carry mutations in the BRCA1 and BRCA2 genes, for example, are at higher risk of breast and ovarian cancers, so regular screening is imperative. Some may opt for prophylactic surgery, as was the case with movie star Angelina Jolie, who famously opted for a preventative double mastectomy. Men with these gene mutations must take care, too, with doctors recommending more regular checks for prostate and skin cancer.
The trouble is that too few people have been tested thus far, says NetSuite founder Evan Goldberg, who last year established the BRCA Foundation with his wife Cindy Goldberg.
Estimates suggest that there could be around 400,000 women in the US alone who don’t know that they carry these mutations, he says. And the more people there are who are aware of their BRCA status, the more data cancer research scientists will have to explore strategies for prevention and treatment.
That’s why The BRCA Foundation has this summer launched a new registry program to gather the details of people who have tested positive for BRCA mutations and share it with researchers so that they have access to potential participants for future studies. Says Goldberg:
I heard from the people at Stanford [University] that they had this great idea to follow people with BRCA mutations over a really long period to get a better understanding of when they developed cancer, which types of cancer they developed and so on - but they were having trouble finding people to study.
In other words, these scientists have plenty of access to research subjects who already have cancer, because Stanford is a major oncology centre, but not to those who don’t yet have cancer, but who have a high chance of developing it.
Two routes to the registry
The BRCA Registry is, you'll be unsurprised to hear, based on NetSuite and was built by a four-person team from the company, along with Foundation participants, with these services provided on a pro-bono basis through the Oracle Netsuite Social Impact program. Says Goldberg:
I think it’s a really good example of how, if a charity or nonprofit starts with NetSuite apps to run its organization, and they subsequently have a need for a system that is very specific to its unique mission, as we did, then they can build it on top of the NetSuite platform and get all the benefits of security and robustness, in the cloud.
Members of the Registry might arrive via one of two different routes, Goldberg explains. If they’re not tested yet, they might undergo testing carried out by Color Genomics, The BRCA Foundation’s testing partner and close neighbour in Silicon Valley. On receipt of a positive result, they would be invited to join the registry, which is effectively a database containing contact and basic demographic data.
The other route might be followed by someone who has previously received a positive BRCA test from another testing organization: they would provide these results to Color Genomics for verification and, again, be given the option to join the registry.
As an adjunct to this, The BRCA Foundation and Color Genomics are collaborating on a family testing programme, whereby first-degree relatives of someone who has tested positive can have the BRCA test, at a cost of $50 instead of the usual $250. Says Goldberg:
We’re just a little Foundation, kind of a start-up, trying to grow. The family testing programme run by Color Genomics, and to which we have donated, is extremely important because prices of testing are falling, but for some people, $250 is still not a trivial amount of money. And one way you can quickly identify BRCA positive people is through their direct relatives, so that helps our registry to grow.
And now that we have the registry up and running, we’re starting to explore other initiatives to build up the information it contains. Big data is a critical component of cancer research now and that's really where we want to go – to get enough people on the registry, with enough data, that scientists can make helpful conclusions.
It’s a question of numbers, he says.
Once we get to 1,000 registrants, or 10,000 registrants - well, it’s these orders of magnitude that will really get things moving, in terms of advancing the science and helping patients at the same time.