US startup Color Genomics has launched a $249 test for genetic breast and ovarian cancer indicators. But why does it want “every woman” to get tested, rather than first assessing their risk, when the chance of inheriting these cancers is far lower than the chance of lifestyle factors such as alcohol and obesity causing it?
A US startup has launched a $249 test for hereditary breast and ovarian cancer indicators, and with it, has proven to the world that affordable genetic testing is within reach. With WIRED Health upcoming this week, a day that will see pioneering researchers and those investing in them gather to discuss the future of the industry, the launch of Color Genomics is also a reminder that all new ideas have to be placed in context. When an advancement is made and money poured into it, that is funding potentially being rerouted from another worthy cause.
Those are the kinds of decisions NICE, (National Institute for Health and Care Excellence) makes everyday, and is the difference between some people getting a particular cancer drug, perhaps, over another, more expensive treatment. It’s also the difference between one person being tested for the BRCA1 and BRCA2 gene mutations — two markers the Color test seeks out (along with 17 other markers) — and another person being refused the test on the NHS because they are not classed as at-risk (anyone calculated to have at least a 10 percent risk is currently offered the test). The reason NICE makes these choices is, of course, cost — if we are to have a universal, free healthcare system, that will always be a factor.
When the cost of genetics tech plummets, as it is liable to in the future, then everyone can be tested. We have been seeing a general trend towards personalised healthcare, and this will extend one day to assessment and treatment based on our genome and, in the case of cancer, even a tumour’s genome. However for now the NHS will not order a test that is deemed unnecessary — when there are no risk factors present, for instance.
Despite BRCA1 and BRCA2 making headlines in recent years, it is just one of many factors that can cause breast cancer, and a relatively rare one.
According to Cancer Research UK, around 12 percent of women will develop breast cancer at some point in their lives (80 percent of cases are diagnosed in women over 50). Of that 12 percent, between 5 and 10 percent of breast cancers are attributed to hereditary causes, and of that a lower number can be attributed to BRCA1 and BRCA2 gene mutations. However a far higher 27 percent of breast cancers in the UK are linked to “major lifestyle and other risk factors” including obesity and alcohol. If we were to test every woman in the UK for genetic markers for breast cancer, that would mean funnelling money away from important research looking into that other 27 percent and what we can do to combat it.
That is why, although Color Genomics is an incredible sign of the progress we have made, we must remember that it is still a business. It was set up by two tech entrepreneurs (who sold their previous startup to Twitter) just after the US Supreme Court ruled that human genes are a product of nature, and thus cannot be patented. The ruling, in 2013, meant that Myriad Genetics — one of the main collaborators behind the discovery and sequencing of the BRCA1 and BRCA2 gene mutations — could no longer hold on to its monopoly of the extremely costly tests (around $4,000) it created to detect those mutations. Color Genomics capitalised on that ruling, at a time when requests for tests began to soar (following Angelina Jolie’s public admission that she carries BRCA1), by using analytics, lab automation and other processes to reduce the test cost, helped along by recent funding to the tune of $15m from Khosla Ventures, Laurene Powell Jobs and others.
What Color Genomics has achieved is proof that cost should not and will not stop people accessing the tools they need to protect themselves. The founders and their colleagues have all personally been affected by cancer in some way, and their work shows that people with real passion can indeed make a real difference.
But again, it is still a business. And that is why the fact the company repeatedly says, in a blog post, that “every woman” should have access to the tests, risks further inflating fears of a problem that is already troubling when the bare stats detailed above are stacked up. Some of the rhetoric used could do more to spread worry about the disease, rather than diminish it.
The blog post calls for women to “empower” themselves with knowledge, emphasising how the “apparent randomness” of cancer brings about “a deep feeling of helplessness”. It reads: “Color is democratising access to genetic testing. Every woman should have the choice and opportunity to get tested for her genetic risk of breast and ovarian cancer in an affordable, accessible, high-quality way. Knowledge of a woman’s genetic risk empowers her to work with her physician to develop a personalised plan based on that information.”
While everyone would be in agreement that, as Color contests, testing should be available to “every woman… regardless of her financial situation”, there is no qualifying note referring to every woman at risk. When we contacted Color Genomics to ask why it does not first offer risk assessment, or if it plans to — it already commendably offers genetic counselling and analysis of family history in the $249 price tag — a company representative said: “Deciding to get tested is a personal choice that every woman should make in discussion with her healthcare provider. Color believes it is important that if a woman decides to get tested, then cost should not be a barrier to her doing so.”
WIRED.co.uk spoke with James Flanagan of Imperial College’s department of surgery and cancer, who focuses on epigenetics, and while he agreed “it is great that they can offer it at such a small cost”, a fact that “brings into focus how much overcharging Myriad was doing for this test”, he does not believe “it is right to ask ALL women to do the test”.
“They are only asking all women to do it because they will make more money from that rather than the small 1-2 percent of women for whom it would be worth it. No other arguments will justify it whether you use words like empowerment or democratising.”
“The small cost means more people can do it, but it would be nice to see guidelines from the company identifying who is at risk of having a mutation (individuals can do this with computer models such as BOADICEA) and only do the test if their chance of having a mutation is >10 percent. This is the recommendation from the NICE guidelines in the UK… I think it would be great to offer all women the opportunity to use the computational model to assess their chances of having a mutation. That can happen for free. Then those that have a high chance can have the test.”
For the reasons Flanagan outlines, here in the UK it could be more beneficial to have more access to risk assessment models, and to have NICE guidelines more frequently updated. One study published in December that could justify this call, found that Ashkenazi Jews at high risk of developing hereditary breast cancer would not have been screened under current UK guidelines — that’s despite studies in the 90s showing that this group is around ten times more likely of contracting the disease. Around about the same time, professor Nazneen Rahman of Human Genetics at The Institute of Cancer Research pointed out that all women with ovarian cancer should have access to the BRCA test in the UK. “Gene tests can provide information about the cause of ovarian cancer and can aid decisions about the best treatments and drugs to give,” she stated.
There are obviously still many benefits to a system like Color’s, not least because it uses donations to provide tests to those that cannot afford it, and it hopes to use voluntary anonymous data on genetic variations gathered to help further research. It’s also a model that’s likely necessary for many in the US without insurance. But when we are looking at forging a future healthcare that is beneficial to everyone, you have to wonder what will happen to the 9 percent of breast cancer sufferers whose disease is linked to their weight, or the 6 percent whose alcohol consumption contributed, when 100 percent of the population has heard about the existence of the duly terrifying BRCA1 and BRCA2 in popular culture news, and businesses are reacting to that fact.