So genomics is, my view basically a more sophisticated piece of kit than we have previously had. So an analogy that I would use is a more a more detailed microscope or a better scanner than we have had in the past. Because we have been able to look at genes and alterations in genes for a very long time and we have been able to home in on specific genes according to specific signs or symptoms. But what genomics allows us to do is look at someone’s entire genetic code and look at the variation in that code. And that variation might explain the differences in our appearances but it might also explain why some of us are more predisposed to certain diseases than in others.

And so the study of genomics allows us to find out much more about particular diagnoses but also about the mechanisms of disease. So many common diseases are not entirely explained by genetic factors but genetic factors contribute. And looking at our entire genetic code will allow us to look at them, to study the mechanisms behind particular diseases without necessarily explaining them entirely because lots of common diseases like diabetes, for example, are explained in part by genetic factors and in part by random and environmental factors.

So I think genomics can be used in lots of different directions. So very obvious benefits would be in terms of better diagnoses. And my particular background is as a clinical geneticist. So I am very used to seeing people with a family history of disease or particular combination of features where a particular genetic diagnosis might be suspected. And genomics gives us a much more powerful tool to try and get to the bottom of that than we’ve previously had available. But genomics will also be very useful in a broader scale like I mentioned previously. It will not necessarily help the diagnosis but it will help look at the mechanism of a disease and thereby help researchers to think about new treatments that might be possible. And that leads on to how genomics might also allow us to identify who is more or less sensitive to certain treatments that are already in existence. So a big issue for the pharmaceutical industry is that certain drugs work very well in some people but not in others. And genomics may allow us to identify or to target particular drugs to particular people because their genetic makeup makes them more or less sensitive so both target and avoidance in certain people.

The 100,000 Genomes Project I think is a particularly interesting project because right from the start it set itself up as being a hybrid project or a transformational project. So it very specifically said this is both a research project for future healthcare improvement but we are aiming also to deliver diagnoses and benefits right now. So usually in medicine we have not always but usually we have quite a clear distinction between what is standard clinical practice now and what is a research study to try and find that clinical practice for the future. And people might be very familiar being recruited into trials that are research trials even though they first entered as a patient. The 100,000 Genome Project said, ok we will offer an NHS diagnosis to patients who might benefit from it if they also take part in research to look at the future benefits of genomics. And I think that was a really bold aim to do that. And I think it’s for the NHS it has been. It’s had a lot of teething problems to try and combine this research and clinical practice element. But it has also been really innovative in thereby reaching a much bigger audience I suppose than it would otherwise have done if it had started as a pure research study. I think it would have been much harder to recruit the numbers that it has now. And it’s offered immediate diagnoses to people who have often been on a very long diagnostic odyssey in that they’ve had lots of investigations already but no particular diagnosis for their signs or symptom. And having their whole genome analysed has been a very useful tool I think to see if anything has been missed in that diagnostic odyssey. And perhaps there has not been as many results as a patient or indeed their health professional would have like by this stage but that’s inevitable for a large project like this that’s establishing itself throughout the National Health Service.

I think the project has been really helpful to introduce genomics more widely within medicine and within the NHS. I see it a little bit like a big juggernaut that’s trying to advance progress. I think my job as somebody who has been in genetics for a very long time is to try and identify the things that are in the way of the juggernaut and address them, move them out of the way, tackle them, make sure that the juggernaut came make good progress without upsetting a lot of people or getting things wrong along the way.

So the 100,000 Genomes Project initially aimed to look at patients with rare diseases, patients with cancer and patients with infectious diseases. And I’ve only really been involved in the recruitment of patients with certain cancers and patients with rare diseases. And just focusing on the patients with rare diseases these were often children with intellectual disability, not always but often they were, who as I previously said had often had lots of investigations already and this was a sort of tenth, eleventh investigation when everything until now hadn’t given them a diagnosis. So what it involved for them was to hear about the project and what it would, what they needed to take part in. But particularly different I suppose about this compared to many other genetic other intervention although not unique is that in order to make a diagnosis in an individual child for example the parents were also asked to give a sample. Because actually there is so much genomic variation between us all that you can only really interpret a lot of it if you can tell whether it’s unique to that individual and their symptoms or whether actually it’s been inherited from one parent in which case it is much less likely to be significant if they don t also have those signs and symptoms. So the parents are a sort of cross-check for the findings in the child but that raises really interesting questions about whether the parents are also patients because their genomes are also being analysed. And as part of the offer of a whole genome analysis parents and their children were offered so-called additional findings or additional looked-for findings. So what this meant was that not only were they being offered a possible diagnosis, long sought for diagnosis but they were also being offered a search for other inherited genetic problems that they might have or be pre-disposed to in the future.