Genomic technologies in primary care

My name’s Imran Rafi. I’m a GP in Surrey. I’ve got an interest in genetics and have had, say, for the last 10 years or so, now– from the time that the Department of Health promoted genetics and encouraged GPs to become GPs with an interest in genetics. So I’m a GP, and I also have an educational role at St. George’s, and I work, also, closely with the Royal College of General Practitioners. In terms of patients, that’s relevant to this discussion, the most common type of patients we tend to see in general practise are those who are worried about a family history. Say, for example, from a history of bowel cancer or from a history of breast cancer.

Or there may be times when we opportunistically pick up people who haven’t realised the importance of their family history. And these are the individuals and families who tend to refer on to secondary care or directly to genetics. So, for example, the nearest cancer hospital to my practise is the Royal Marsden. And we do get letters back indicating the types of genetic tests that might have been done on our patients who are going through treatment. In terms of how it’s relevant to primary care, there are going to be certain challenges, really, for primary care. Firstly, understanding what the nature of technology is and how it may be applied– but also, taking a patient perspective as well.

How do patients get referred up for testing and what are the criteria for testing? What do the results mean when we get them back, and how will we store them on our GP systems? So I think there are going to be varies challenges, really, in terms of dealing with the information– let alone considering all the ethical, legal, and social implications of the genetic tests that these individuals might be going through as well. So the benefits are how much difference the information that comes through from next-generation sequencing actually makes in terms of potential treatments or in terms of helping the management of these patients through their diseases.

Say, for example, in the treatments of their cancers and how chemotherapy may be applied to these individuals affected.

We’ll have people who have, as I said at the beginning, who are worried about their family history. And the information from next-generation sequencing is additive data. It will help in terms of informing us as to how high the risks might be for that individual. And then we can tailor individual, personalised, plans that can help to stave off disease in the future. So the challenge over the next four or five years, really, is getting infrastructure in place.

So, as I’ve mentioned, getting the referral pathway sorted so we understand who to refer to– and the criteria for referral– storing the information, having an educational background to the information that’s been generated so that we, as physicians, understand the clinical utility of the information that’s coming through, and how we may apply that. And then have meaningful discussions with our patients. So the implementation through the NHS is going to be really important. What I’d really like to see in 10 years’ time is that primary care does the testing in the community. So, with the rapid technological advances being made, there are going to be handheld devices that perhaps we can use in primary care.

That can help us, for example in drop-prescribing, in infection control, or even looking for particular genetic traits. So that’s what I’d like to see in 10 years’ time. But to enable that, we need to get the infrastructure in place, and we need to get the educational information out there to primary care so that we can make best use of the new technologies. There are going to be ways and means in which the general public is going to find out about how this technology may be applicable to them. And say, for example, over-the-counter genetic testing is available to the general public.

And I think we need to be mindful that individuals who do these testings understand the information that’s been generated, and how it may generate anxiety or further need to engage with health care professionals in terms of understanding the information that they’re actually receiving. So I think as more people go through testing, their friends and families are going to find out about what sort of test they’ve gone through and what this test actually means for them. So there will be, obviously, over time, increased knowledge amongst the general public. But, at the present time, I think it’s still relatively low.

Trying to reach around the subject, so trying to understand what the new technology does, what the potential applications could be, and how relevant, actually, it’s going to be for primary care– I think, perhaps, many GPs think that genetics isn’t particularly relevant to day-to-day practise. But actually, if you think about it, it is. We talk a lot about reproductive advice. We talk about cancer. We talk about chronic conditions. And for all these different specialties and themes there’s going to be a genetic component. And I think, increasingly, we’ll realise the importance of genetics.