Blog by Kate Arkell Retina UK: why genes matter

Kate Arkell is Research Development Manager at Retina UK. Retina UK is only UK charity dedicated solely to working for people affected by inherited sight loss. At ProQR we are proud of our work with organizations like Retina UK. These patient organizations help us as a company stay connected to the needs of the communities for whom we are trying to develop RNA therapies.

Retina UK logo with text: Working for people with inherited sight loss

The future looks bright for therapies for inherited retinal conditions

Recent advances in science have given rise to an enormous amount of hope for new treatment option for inherited retinal diseases, or IRDs. RNA therapies, gene replacement therapies and stem cell-based approaches are all making positive strides through clinical testing, and we even have one gene therapy approved for use in the National Health Service here in the UK.

But the vast majority of these treatments target a specific gene or even mutation. Their ability to save sight relies entirely on successful identification of individuals with the corresponding genetic fault, and therein lies a significant challenge.

Do people from the IRD community know their genetic diagnosis

In 2019, we conducted a survey of our community of individuals affected by inherited retinal degeneration and received around 1,000 responses. Despite the fact that the NHS provides free genetic testing for families affected by inherited conditions, 43% of respondents told us they were not aware of genetic testing, or that they were aware of it but they didn’t believe it was available to them.

We estimate that as few as 15% of our community actually know the gene associated with their sight loss

Kate Arkell

The survey also highlighted a lack of understanding of the meaning of a genetic diagnosis or its potential significance. When asked to provide their genetic diagnosis, some people gave an inheritance pattern or the name of their condition rather than the name of a gene; others thought they’d had a test but had forgotten the result. We estimate that as few as 15% of our community actually know the name of the gene associated with their sight loss.

Kate Arkell is Research Development Manager at Retina UK. Retina UK is a registered charity, providing information and support to people living with inherited retinal conditions, and funding pioneering medical research to help make their challenges a thing of the past. Services available include a Helpline, Talk & Support Service and Local Peer Support Groups. You can find out more about Retina UK at www.RetinaUK.org.uk

A headshot of Kate Arkell wearing a blue Retina UK polo shirt.

Where can people find information about genetic testing

Retina UK is committed to providing a easily accessible, understandable and balanced information about genetics, genetic testing and how to access the relevant services: in April 2021 we launched Unlock Genetics, available online at www.RetinaUK.org.uk/genetics , as well as in audio on CD and memory stick, and in large print hard copy.

the Unlock Genetics logo

How does Unlock Genetics help

Unlock Genetics includes sections on genetics, inheritance patterns, genetic testing, genetic counselling, and how to get a referral to genetics services, with a list of clinics across the UK. All of the information is easy to understand, with no expectation of prior knowledge, and is even arranged in layers, so people can just dip into the bare minimum on each topic if they wish – we know there’s a lot to take in. Our intention is absolutely not to make people feel that they should get a test, but to instead ensure that they understand what is available to them and what the potential benefits and limitations of a test are.

Families affected by inherited sight loss often very much value hearing about others’ experiences, so we created a Your Stories section, where community members share their journeys through genetic testing and counselling. We even recorded a podcast with two people who had quite different outcomes to their tests.

What should people tell their doctor

Our survey and discussions with community have revealed the significant challenges families sometimes face in persuading a GP or non-specialist ophthalmologist to refer them for genetic testing and counselling. These professionals often have limited or even no knowledge of recent progress in treatment development and may not be fully aware of the potential wider benefits of testing for families. To this end, we created a section of concise information written for this professional audience, the intention being that our community members could give it to their doctor to facilitate the discussion and make the referral process as easy as possible for everyone.

Is the platform a success

We were very grateful to have the support of three genetics professionals in ensuring the content of Unlock Genetics was accurate, as well as input from several members of our community who reviewed and helped us shape the information to meet the needs of families. Community members also helped out by extensively testing the accessibility of the website using a range of assistive technologies.

I was very impressed by the clarity and comprehensiveness of the website’s content…

An ‘Unlock Genetics’ user

We are delighted with the feedback from our community that we have received so far, with one individual saying: “I was very impressed by the clarity and comprehensiveness of the website’s content as well as the ease with which one can find and move between the sections. Also, the lists of clinics will be extremely useful.” Others have told us how much they appreciate the insights into others’ experiences: “I enjoyed the audio recordings, especially of experiences of genetic testing… it helps to understand how it has been for other people.”

Medical professionals are also impressed; one retinal specialist told us: “This is a brilliant resource that will make a big difference to our community.”

We are of course keen for Unlock Genetics to reach as many families affected by IRD as possible and are undertaking a widespread communications campaign to include social media, sector press and publicity materials for clinics. Let’s hope that we can increase access to genetic testing and ultimately to life-changing treatments.

Find out more about genetic testing in countries outside of the UK.