I was talking about extending access to genetic testing, so that’s germline genetic testing, so trying to find patients who have a hereditary risk of cancer, an increased predisposition to cancer.
What is the process?
We first talked about ovarian cancer patients where we know that 10-15% of them have inherited mutations in the BRCA1 or the BRCA2 gene. We’ve set up a programme at the Royal Marsden called the Mainstreaming Programme where we train non-geneticists, so clinicians who are oncologists or surgeons in the gynae team, to be able to undertake that testing themselves. That’s great for patients because it means they don’t need an extra appointment in genetics and it speeds up the whole process so that they have a result quickly which can sometimes be very important for directing their care. It also allows us then if we find a mutation in a patient to offer to see their relatives so that we can determine if they’ve also got that mutation and then offer them ways to reduce their risk of cancer.
Will this be rolled out UK wide?
We’ve been talking a lot about the Mainstreaming Programme and we have a lot of material that’s freely available on the Mainstreaming website. Other people are taking this on board and maybe not in exactly the same way but it’s a good framework for setting up this kind of testing in other places.
How would this benefit a patient?
There’s benefit to the patient themselves who if we have an ovarian cancer patient where a mutation is identified they may be able to access then a targeted treatment such as a PARP inhibitor. But also it’s important that they can then have other family members tested, so if a patient’s sister has a test and she also carries the mutation she might choose to have prophylactic surgery to have her ovaries and fallopian tubes removed after she’s had her family to prevent her risk of ovarian cancer in the future. That could be massively important.
Is there a risk of over-treatment?
No, not really. Not everybody chooses to have risk reducing surgery but it’s there as an option. Also, if you have a BRCA mutation we also know that you have an increased risk of breast cancer and those patients can access a breast screening programme where you have annual screening rather than three-yearly, as the normal breast screening programme.
Any final thoughts?
When everybody thinks about hereditary predisposition to gynae cancers they think about BRCA but Lynch Syndrome is also important. The highest risk of cancer is colorectal cancer but there’s also a risk of endometrial and ovarian so we want clinicians to be thinking about patients that have a family history that looks like it might be Lynch. We also talked a little bit about panel testing because there are lots of panels now where you can test lots of genes but it’s really important that if you’re going to test a gene you know that what changes in that gene are disease causing and you have something that you can do about it. So you don’t just test because you can, you test because it can be clinically useful.
