Genomics in Healthcare

14 December 2017

Interview with 

Michael Simpson, King's College London

DOCTOR

Close up of a doctor's coat, with a stethoscope and a pocket full of pens

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Naked Scientist Ginny Smith went along to the Genetics Society Autumn Meeting at the Royal Society in London, held in partnership with the British Society of Genetic Medicine entitled The Human Genome in Healthcare. The meeting revealed how advances in gene sequencing and editing are shaping the future of medical diagnosis and treatment.

First up, she spoke to one of the meeting’s organisers - Professor Michael Simpson from King’s College London and Genomics plc - to find out more about the idea behind the conference and to get a taster of the talks ahead.

Michael - It’s clear with our ability to sequence DNA at scale the human genome is becoming an important part of how we think about healthcare and medicine. Over the next 10 years or so, there's predictions that we’re going to have up to a billion genomes sequenced and most of these are going to be sequenced in the healthcare setting.

There's important challenges in terms of interpreting the variation that we see in various clinical contexts, and I think the coming together of both the Genetics Society membership and the British Society of Genetic Medicine really enables us to think about the fundamentals of genetics in the context of the clinical application of these technologies. We put together a programme which covers a wide range of areas where genetics is going to be important in decision making in medicine.

Ginny - Can you give me some examples of the kinds of talks that you’ve got going on here and the breadth that they're covering?

Michael - This morning we’ve had a session on Rare Disease Genetics – how we can use structural information from proteins to prioritise variants in certain genetic contexts. We’ve got a session this afternoon which thinks about genetics in a slightly different way and trying to treat genetic disorders, and potentially, using the genome as a target for therapeutic approaches with CRISPR based technologies.

And then we’ve got sessions on cancer, surveying of the mutations arising cancer can be useful for both predicting prognosis and response to therapies, and then the potential for genetics to be used in the context of common complex disease, and also pharmacogenetics - how individuals, based on their genetics will vary in their response to certain drugs.

And then we’ve also got the final session tomorrow afternoon, which looks at some of the complex ethical issues of using this kind of data and also, the educational side of this in terms of bringing the public, raising their awareness of what genetics is, the promise that it holds, but also the challenges that we’re currently facing using this type of data effectively.

Ginny - What do you think is the most exciting development that we’re going to see in healthcare in the next say, 10 years that’s based on kind of genetic research that’s going on at the moment? Is there an area that you're particularly looking forward to seeing where it goes?

Michael - So, I think there's two parts. There's the day-to-day use of this kind of technology in the clinic. And so it’s used, particularly in cancer, in trying to identify which individuals are going to respond to certain therapeutics.

But also, that we can actually use this information once we have it at scale and a greater understanding of the relationship between genetic variation in human disease, and to prioritise targets for the new therapeutic development and help decrease the risk of some of these targets in drug development programmes.

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