Blog by Kate Arkell Retina UK: why genes matter

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.

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.

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.

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.

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.

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.

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.

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.