A genetic counsellor’s view of mainstreaming cancer genetics
Jennifer Wiggins is the senior genetic counsellor at Royal Marsden Hospital. She has specialised in cancer genetics since 2003. Here she shares some observations on the way mainstreaming cancer genetics has shaped conversations with patients.
If you think back to the conversations we used to have with patients in the early 2000s, about their family and personal family histories of breast and ovarian cancers and options for genetic testing and compare it to the conversations we have now, the change is dramatic.
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 the 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 screening across the country.
In those days, when discussing predictive BRCA testing, patients were dealt with in the same way as Huntington’s families. We expected patients to attend more than one pre-test appointment before offering the test and to attend a face to face clinic to receive their results. We were anxious about how they would cope with a positive result.
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 a patient’s relatives, concerned about their risks.
Now, oncologists are offering BRCA1/2 testing at the point of the cancer diagnosis because a patient’s BRCA status is important consideration with regard to 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. Patients are now 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 their BRCA literacy is generally very good. It’s no longer feasible to wait until after treatment is complete to offer genetic testing.
The utility of testing is no longer up for debate. Clinicians’ anxiety about testing being too distressing or too much for patients appears to be unfounded. When counselling patients about either diagnostic testing or predictive testing it is difficult to argue that not knowing offers any advantage to the patient. Having the test doesn’t change whether or not they have a BRCA mutation, but if they do have a BRCA mutation and know about it, this completely changes their opportunities for risk and/or cancer management.
Now that we are able to offer BRCA testing directly to patients, without agonising over the testing criteria, we have freed up clinical resources to follow up and support the BRCA carriers we have identified. We work with the 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.
I’m not saying that having a BRCA mutation isn’t a significant issue for individuals or families. It is. The information is complex and evolving. There are many decisions to be made and difficult conversations to be had with children and the extended family. 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. I am very matter of fact when discussing genetic testing now and I think this approach helps patients to put the testing and the results into perspective.
With mainstream testing I am able to better support these families as they adapt to the genetic diagnosis and make the most of this genetic information. We can offer more support in the short and long term, now that upfront testing is a streamlined process. I think mainstream testing enhances our professional role and gives us the opportunity to focus on the family as well as the patient.