There has been a flurry of articles this week on the FDA’s decision to allow 23andMe to sell direct-to-consumer (DTC) tests for three mutations in the BRCA cancer predisposition genes. Anyone can buy the test, over the internet, without involvement of a health professional.
Direct-to-consumer companies say they are empowering people and democratizing access to genetic testing. But many people are worried. Particularly genetic counsellors. Can you be adequately informed about BRCA testing online? Should a test for only three BRCA mutations be sold? Will people be falsely reassured about their cancer risk if their 23andMe BRCA test is negative?
How worried should we be about direct-to-consumer genetic testing? Are we worrying about the right things? Are the concerns really only about direct-to-consumer testing, or do they also apply to conventional testing?
We must provide good information about genetic testing
It is the responsibility of a genetic test provider to make sure anyone thinking about taking a test has clear information to guide their decision. Genetic counselling is often stated to be the ‘gold standard’ way to do this. But the reality is more diverse, because people and their situations are diverse.
Many people find the personal one-to-one discussion with a genetic counsellor invaluable. But there are also many people who find it difficult and frustrating to have to wait for an appointment, to take time off work, to travel to and from the clinic. Particularly if they have researched testing, and have already come to an informed decision.
We must ensure we provide good information about genetic testing to everyone. But we can, and should, explore different ways of delivering that information. In fact we must actively, creatively and energetically explore this. Because it will not be possible to deliver genetic medicine at scale, if upfront one-on-one discussions with a genetic counsellor are needed for every test.
We should embrace new ways of communicating information
People are variable and changeable in how they like to consume information. Many of us have changed dramatically about this over the last few years. We are now choosing online ways to do things that we used to want to do face-to-face with experts.
Of course, making a decision about your health is different from planning a holiday. But this doesn’t necessarily mean it ‘s fine to order a holiday online but not a genetic test. It just means we have to be extra careful that the online processes for ordering genetic tests are appropriate, safe and well-regulated.
Direct-to-consumer and genetic counsellor communications are pretty similarThere are more similarities between the direct-to-consumer and genetic counsellor models of testing than people realise. Genetic clinics have standard genetic testing information sheets that they give to everyone. Many have online written and video information as well. In concept and content, these are very similar to the videos and online materials that direct-to-consumer companies use.
This carefully prepared, consistent information is very important. It should be the foundation of all genetic testing communications. People can go back to the information whenever they need to refresh their understanding. And it provides a vital safety-net if you accidentally forget to say something in the consultation.
Some online genetic test providers have genetic counsellors that you can speak with, if you have extra questions. Others, like 23andMe, do not offer this. But they do recommend speaking to a genetic counsellor, prior to buying a test, if you have unanswered questions (though it is in small print!).
So, there is consensus that anyone having a genetic test should have clear, comprehensive, written and/or visual information about it. There is also consensus that people who have unanswered questions should be directed to someone who can help them. The two key things we need to decide are 1) how do we make sure people recognise they need extra information, and then get that information. 2) which tests should only be ordered if you have spoken with a genetic counsellor as well as reading the standard information.
Many BRCA tests only look at a few mutations
Another worry people have voiced about the 23andMe BRCA test, is that it only looks at three mutations that are found in people of Ashkenazi heritage. There are only about 300,000 Ashkenazim in the UK, and about 10 million in the US. So the test isn’t very useful to most people. But many BRCA tests ordered through genetic clinics also only test for a limited set of mutations. Historically, one of the main roles of genetic counsellors was to work out which mutations a person should be tested for.
This made sense when gene tests were expensive. The cost of an Ashkenazi BRCA test used to be one tenth of the cost of a complete BRCA test. Now the costs are equivalent and it doesn’t make sense to do a limited test. There will always be people that have mutations not tested for, however carefully one tries to work out which is the likely mutation. And one of the basic advantages of fast, cheap DNA testing is that we can stop the guessing and just do the testing.
We stopped doing limited BRCA testing three years ago and we do full BRCA testing on anyone that was previously eligible for the limited tests. All testing providers should aim to provide comprehensive BRCA tests as soon as possible.
Some newer BRCA tests are less complete than older ones
There is another problem with the completeness of BRCA tests that is not well appreciated and not well signposted by BRCA test providers. An important type of disease-causing mutation in the BRCA genes is tricky to detect with new sequencing methods, even whole genome sequencing. We wrote about these tricky exon CNVs in previous blogs. Some BRCA test providers have solved the problem using deep sequencing and clever informatics, some by using a separate test to detect exon CNVs, but some simply don’t test for them. This is a problem. Exon CNVs account for 1 in 10 BRCA mutations, including one of the commonest BRCA mutations in the UK.
Most people, including genetic specialists, assume the BRCA test they’ve ordered is fully comprehensive, because the traditional BRCA tests had to cover exon CNVs. Even if you are aware of the issue it can be very difficult to find out how good the test you’ve ordered is at detecting exon CNVs.
So incomplete testing is a general issue for the BRCA genes. And transparency about the extent and quality of genetic testing is a general problem for genetic medicine. It needs urgent attention.
False reassurance is a general problem
Another common concern about the 23andMe BRCA test is that people with a negative test will be falsely reassured that they don’t have a BRCA mutation at all. This is a real issue, and some people will believe they are free of BRCA mutations if their 23andMe test is negative. Those voicing this concern say this would not happen if the person had genetic counselling. That has not been our experience.
Over the years, many people attending our clinics have told us they don’t have a BRCA mutation. Then we see their test report and find they were only tested for the three Ashkenazi mutations. Usually their report is very clear about this. Usually a genetic counsellor has also talked to them and written to them clearly about it. Nevertheless, the person has come to believe that they were negative for all BRCA mutations, not just three mutations.
All communications are susceptible to this type of misunderstanding. However, clearly when we say something, there is a chance that people will hear something else! The best way to reduce this particular false assumption is to make fully comprehensive BRCA testing the standard. Then the assumption will be correct.
We need to focus on people who have positive tests
Many of the concerns about the 23andMe BRCA test have focused on people with negative tests. But I find myself more concerned about the people who find out they have a BRCA mutation through direct-to-consumer testing. I have been involved in some instances over the last few years because the 23andMe BRCA test was not banned in the UK. Although 23andMe clearly state that anyone with a positive test should seek confirmation and advice from a health professional, they do not guide people on how to do this. And they do not take any responsibility for ensuring that it happens. This leaves people anxious and guideless. And it leaves health systems with the task of handling the emotional, logistical and financial fall-out.
We need to decide how people who discover they have BRCA mutations through direct-to-consumer testing will be managed. I don’t think it is reasonable for the direct-to-consumer companies to abrogate all responsibility. At the very least they should contribute to the NHS, perhaps through an annual license-to-operate fee, to cover the cost of integrating these individuals back into NHS care.
We should integrate direct-to-consumer testing into genetic medicine
It would be good to move on from the ‘direct-to-consumer is bad and genetic counselling is good’ assumption that has underpinned most of the dialogue on this topic in recent years. Instead we should think about how we can best serve the needs and choices of people considering genetic testing. There may well be situations where direct-to-consumer tests have a useful role to play. We need to make the most of these opportunities.
Most importantly, genetic medicine must retain control of the regulation and integration of genetic testing in healthcare, however it is provided.