Genomes - thousands of them

How many genomes do we need?
14 December 2017

Interview with 

Richard Scott, Genomics England




One of the biggest research programmes in genomic medicine in the UK right now is the 100,000 Genomes project, run by Genomics England. Ginny Smith spoke to Richard Scott from Genomics England to find out more about the project and how it could change medicine in the future, particularly for rare diseases.


Richard - So the project aims to recruit patients from the NHS. A total of 100,000 genomes of people who have either cancer or rare disease to both help their own clinical care in the NHS but also, allow research and to foster a genomics industry in the UK.

Ginny - Why is it so important to know more about the genetics of cancer and these other diseases?

Richard - So both cancer and rare disease are genetic diseases in different ways. Cancers are genetic in that they form because of mutations in the cancer cells that are different from the cells that you're born with. Rare diseases can quite often be caused by very rare genetic alterations in the genes, in the DNA that you're born with. If you understand the cause either in cancer, what's driving it, or in the rare disease, what's caused it, it helps you look after the person better.

Ginny - There must be specific challenges to working with rare diseases in that you have fewer people to work with. How does that affect your project?

Richard - So rare disease is strange. Each of the individual diseases is rare. So by definition, there's 1 in 2,000 or fewer people are affected with it. But collectively, they're very common so there are thousands of different rare diseases. So we think about 1 in 17 of the population actually have a rare disease.

The real challenge is, we’re actually in medicine, quite poor at recognising many of these diseases. So taking a broad diagnostic approach as you can with genome sequencing is really helpful in many of these situations because it helps you to find the cause where using the most traditional approaches is really challenging. It’s like finding a needle in a haystack sometimes and these newer technologies really help with that.

Ginny - I guess 1 in 2,000 is rare for a specific GP to have come across that disease before. But actually, in terms of the world population, there are quite a lot of people living with each of the diseases.

Richard - That’s right for those that are as common as 1 in 2,000 and in the rare disease, well that feels common. There are a lot of people with those, but we know that there are many diseases which are really vanishingly rare. We’re very lucky in this country that we’ve got a project of such scale.

100,000 genomes is a lot but even with that, it’s too small for us to know that we’ll find the causes of some of these really vanishingly rare conditions where perhaps will only recruit one person with the condition to the project. It is very hard to recognise patterns when you're only looking in one person in one family.

Ginny - So if you were say, a person with one of these really rare diseases, is there still going to be a benefit to you from being part of the project?

Richard - Absolutely. So, our primary aim in terms of the immediate benefits to people with rare diseases joining the project that we might find the diagnosis. We know that we can't be sure whether or not we will, but that’s the prime initial aim. It also means that potentially in the future, if a cause is found or something else recognised in the genome that is useful clinically, there's a potential for the people to be recontacted and offered the possibility of recruitment to other research to do with their condition that might be helpful to them themselves, or to other people with their condition in the future.

Ginny - And as well as diagnoses, will there be effects that might change their treatment if they’ve been part of the project both for the rare diseases and for the cancer patients?

Richard - Absolutely. In cancer particularly, the focus is on changing treatments whether that’s avoiding treatments that you can see from the signature in the cancer wouldn’t be effective but might just have unnecessary side-effects or whether it’s finding something quite targeted that will be more effective.

In rare disease, there's changes in treatments although that’s sadly at the moment, a relatively small number of rare disease is not possible. But it’s often possible to change management. So for example, to know in someone, if you know what exact disease they have, whether you should look out for particular medical complications more carefully than in a general population - perhaps screen them for high blood pressure at a younger age then the general population would need. That sort of thing can be really helpful and actually change outcomes quite a lot.


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