As a genetic counsellor my role is to both assess familial cancer risk and to help patients understand and adapt to their familial cancer risk. The majority of my patients have had breast or ovarian cancer or have a significant family history of these cancers. Some will have an underlying BRCA1/2 mutation. Reflecting back on the conversations I had with patients 10-15 years ago, compared with now the change is remarkable.
Cancer genetic testing in the early 2000’s
In the past, when we offered diagnostic genetic testing to the few who qualified for testing, the test cost thousands of pounds, took months to report and didn’t even screen the whole of the genes. Genetic counsellors spent lots of time and resources verifying family histories and doing risk calculations in order to ration tests. We weren’t sure what to tell patients about their familial risk if they had a normal BRCA1/2 test. We were still waiting to hear if researchers would ever discover the ‘BRCA3’ gene. We didn’t even know how best to screen these high risk patients for cancers, and there was certainly no equitable access to screening across the country.
In the early days of BRCA testing, oncologists wouldn’t refer cancer patients until the end of their treatment, if at all, as there was a concern that the genetic test would be too much for patients to cope with, in addition to their cancer diagnosis. As their BRCA status wasn’t relevant to their treatment planning, genetic testing was an afterthought, with referrals often instigated by requests from patient’s relatives, concerned about their risks.
Cancer genetic testing today
A lot has changed since the early days of BRCA testing. We know a lot more about the BRCA genes now, and can even target specific treatments to patients based on their genetic variants. That means that it’s no longer feasible to wait until after treatment to do the genetic test.
We have implemented a system where patients give consent for BRCA1/2 testing during one of their regular oncology appointments. This mainstreaming approach has increased the number of patients who receive a genetic test, and reduced the time it takes to get their test results back.
Now, oncologists are offering BRCA1/2 testing at the point of the cancer diagnosis because a patient’s BRCA status is important consideration in planning treatment, understanding their prognosis, their future risk of cancer and options for drug trials. The tests are cheap and quick so the results can be used in real time.
Conversations with patients
Patients are also much better informed about genetic testing than they were fifteen years ago. They’re expecting to be offered testing or have a discussion about it and they have often already heard of the BRCA gene. When I talk with patients about testing I can be clear about the benefits, I can explain the limitations of testing and have productive conversations about risk management.
Our conversations with patients have changed for the better now that we don’t need to spend time agonising over the decision whether or not to test in the first place. We have freed up clinical resources to work with carriers and their families to facilitate planning their risk management preferences, make appropriate referrals at the right time, and work to ensure that cascade testing is taking place within families to identify as many BRCA carriers as possible. This way, we can help them take steps to reduce their risk of cancer in the future or at least try to diagnosis any new cancers as early as possible.
Thanks to advances in genetic testing over the past few years, we are now able to have more focused conversations, sooner, and with the people who need it the most.
This post is adapted from a longer version that appeared on the Mainstreaming Cancer Genetics blog. Go there to find out more about the genetic counsellor’s perspective on changes in cancer genetic testing over the years.