New website aims to increase understanding of genetic testing and counselling in inherited sight loss community
Posted on: Monday 19 April 2021
High quality information on genetic testing and counselling for families affected by inherited sight loss is now available in one place thanks to the launch of an innovative new website, Unlock Genetics (www.RetinaUK.org.uk/genetics). The site aims to increase the level of awareness of genetic testing and genetic counselling amongst people living with inherited sight loss conditions, empowering them to make fully informed decisions about their lives, healthcare and family planning. It provides clear, trustworthy and balanced information and has been developed with significant input from experts in the field and also those who live with inherited sight loss.
Of the 1,000 people who responded to Retina UK’s Sight Loss Survey in 2019, 43% said they were ‘not aware’ of genetic testing or that they were ‘aware of it but it is not available to me’. The charity estimates 85% of its community do not currently have a genetic diagnosis.
Tina Houlihan, Chief Executive of Retina UK said the site aimed to address the issue of a lack of awareness and enable people to make informed choices. She said:
“Far too many of our community are still unaware that genetic testing and counselling is available to them through the NHS – through our new Unlock Genetics website we aim to change this.
“Being diagnosed with an inherited retinal condition often means there is a great deal of uncertainty ahead but, with access to the right information, there are some areas that people can make informed decisions about and have some control over. This includes genetic testing and counselling, which can lead to a more accurate diagnosis, a better understanding of inheritance patterns and the chances of future generations being affected, and even offer the potential to take part in research trials and access treatments in the future.”
Novartis Pharmaceuticals UK, who funded a grant for this project, believe Unlock Genetics will act as a ‘valuable resource’.
“The patient burden is high for those born with inherited retinal dystrophies (IRD) and the debilitating nature of these conditions can place a life-long physical, emotional and financial burden on patients and their families,” said Chinmay Bhatt, Managing Director UK, Ireland & Nordics for Novartis Pharmaceuticals.
“Learning more about the type of IRD via genetic testing can equip patients and their families to better understand their condition and guide disease management together with their clinician. Retina UK’s Unlock Genetics website offers much needed information around the potential benefits of seeking a genetic diagnosis, and we believe it will act as a valuable resource for the community.”
The benefits of those living with an inherited sight loss condition having a genetic diagnosis and accessing genetic counselling can include:
- Feeling better informed about their condition and the reason why they and their family have been affected.
- Being given a more precise diagnosis and a possible indication of how their sight loss might progress.
- Confirmation of inheritance pattern, providing a clear understanding of risks to children and grandchildren and opening up choices around family planning.
- Potentially becoming eligible to participate in the increasing number of clinical trials and being able to access treatments when they become available.
“Ophthalmology is one of the biggest areas in rare disease genomics, expanding all the time and can seem quite complex. Retina UK’s Unlock Genetics will help individuals towards making choices that are right for them and their families at whatever point they are in life; as well as being a good source of information for professionals.”
Clare Arnison-Newgass, Ophthalmic Genetic Research Nurse / Clinical Nurse Specialist
“The launch of this website is a significant step forward in contributing to unlocking exciting opportunities available from the rapidly developing understanding of genetics leading to further clinical research trials and possible treatments for more retinal dystrophy sufferers. I hope the website will help to raise awareness of the importance of genetics and explain what genetic counselling and testing are and how to get these services through the NHS.”
Martin, who lives with inherited sight loss and volunteers on the charity’s email helpline was on the community review panel.
“The new Unlock Genetics website does exactly what its name suggests, genetics explained in an easy to understand way, also how to access genetic counselling/testing by geographical location. All in one place and of course screen reader software friendly”.
Stephen A Goulden MBE, a Retina UK volunteer and one of the accessibility testers