Sarah Wynn - Sequencing for rare disease

Kat - One key group of people who will be offered genome sequencing as part of the 100,000 genomes project is children and others affected by rare genetic disorders, who will be invited to have their DNA read, as well as their parents.

In the hubbub after the Progress Educational Trust event, I caught up with Sarah Wynn, information officer at Unique - an organisation that supports families affected by rare genetic disorders - to find out what families were hoping to get out of being part of the project.

Sarah - What most of our families are looking for is a diagnosis and of course, sequencing gives you a much better chance of getting a diagnosis. So, I think that's the real benefit that we're going to see for our families. I think additionally, we are dealing with rare disorders. With rare disorders, what you want is a big dataset in order to get more people. When things are rare, you need a big dataset to find other people who've got the same rare disorder. So, doing this on a big scale and pooling the data and looking at the data is really important in order to learn more about these individual rare disorders.

Kat - What do we actually class as a rare genetic disorder? What sort of things are we talking about here?

Sarah - Well, at Unique, we support almost all rare chromosome disorders, so not Down Syndrome because that's not so rare and also, it's adequately supported elsewhere. What we support historically, those who aren't supported elsewhere. So, we sort of have mopped up all of the...

Kat - ...spare diseases!

Sarah - ...all the other ones. And of course, loads of our members are completely unique. So, there is no one else who has the same diagnosis as them. So, we're not just rare but we go straight all the way down to unique. Of course, that's going to happen more and more with genome sequence.

Kat - I've heard before when it comes to genetics, we're all a little bit mutant because everyone is unique in their own way.

Sarah - Exactly.

Kat - Where do you draw the line as to what classes as a disorder and what sort of things are you looking for in someone's genome? How do you know that that's the gene, and what can this sort of project tell us?

Sarah - Well, I think that's a good question. Of course actually, one of the issues is, is that having a change in a particular gene or a particular chromosome doesn't necessarily mean that you have the disorder and some things are risk factors or they're involved in penetrance. We have seen at Unique that we have families that have a small piece of chromosome missing, a tiny piece missing and it's within their family. There are multiple members of the family that have this missing and yet, only some of them are affected, some of them are unaffected. So of course, your other genes and your environment play an important role in that. Genetics is a bit more nuanced than just a yes or a no and it's really important that we acknowledge that and try to educate people a bit more about genetics so that that's really understood.

Kat - Because obviously, it's not a straight line from genetics to how you turn out.

Sarah - Exactly. It's very complicated. Of course, although we're all similar to each other, we are all different from each other and everybody has lots of tiny changes in their genome. And so, I think these projects are really trying to find out what changes cause problems, or what changes are more likely to cause problems than other changes.

Kat - Some people raised a whole range of issues when we're dealing with this kind of technology from privacy to these kind of things you might find that you might not want to find. If you're looking for a rare disorder, you might find that you have an increased risk of say, Alzheimer's or something like that. Broadly within the rare disease community, do you think that these risks and these issues are worth it for the benefits that you could gain?

Sarah - Well, I think it's really important with these things that you are able to opt in or out. So, people can make the choice about whether they receive those findings or not. Of course, these things aren't really new. I mean, they might pop up more but we have a clinical setting in which we're used to dealing with these sort of unexpected findings that don't relate to the initial problem that you were looking for a diagnosis for. So, I think this is a debate that will continue to happen. I think it's important that families have a say and so, this comes down to consent about whether they received them or not. I think different people are going to make different decisions. And so, it's sort of an ongoing debate I think.

Kat - Given the revolution that we've had in gene sequencing technology just in the past few years and what projects like Genomics England are promising for the future, how would you like to see things changing for families affected by these rare diseases over the coming years?

Sarah - Well, I think for us, the diagnosis is really only the start of it. Actually, what we want is once you have a diagnosis, for you to know what that means in terms of the future of your child but also in terms of care management and therapy and things like that. So, we would like to see along with it the genetics looking at sort of care management and therapies and where that's going to take you.

Kat - That was Sarah Wynn from
Unique.