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NIHR Biomedical Research Centre Leicester

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Video Transcript: Professor Sir Nilesh Samani, polygenic risk scores, current research and future directions

Feb 17, 2022

So in the last few years, how polygenic risk scores work and how much they quantify your risk has been established in many, many studies. The question is now how do we apply this in real life, what we’ve done is there are a number of studies going on. In Leicester we’ve done a study called GENVASC where over the last 9 years or so we’ve recruited over 40, 000 people who were attending a GP practice for an NHS health check, looking, as I mentioned earlier, where people’s blood pressure and so on is assessed.

What at last those patients do is provide us with an extra blood sample to look at their DNA. And what we hope this study will show is the value in adding this genetic information on top of the clinical assessment that is done. If we can show real value in a real life situation which is currently applied in the NHS, ie your health check, that it actually better identifies people who might be at risk of having a heart attack and therefore apply better prevention measures to those people, then I think the value of the polygenic risk score has been established in real life practice.

And hopefully that will then get adopted for use in the NHS and other health systems. Of course polygenic risk scores are not only applicable to heart disease and risk of heart attacks, but can be applied to the risk of various cancers including breast cancer so it’s a really exciting area of active research at the moment and particularly an area where you can see it’s translation into clinical practice coming in the next few years. It’s likely that all of us will have our DNA analysed in some way and it’ll be stored in our health record because the ability to assess DNA is becoming much cheaper and much more effective, so in the next decade or two I suspect we will have our genetic sequence in our records and then applying polygenic risk scores will become much easier.

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The NIHR Leicester BRC is part of the NIHR and hosted by the University Hospitals of Leicester NHS Trust in partnership with the University of Leicester,  Loughborough University and the University Hospitals of the Northamptonshire NHS Group.

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Gwendolen Road
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