Call to Action

There is an urgent need for equitable access to affordable genetic testing on a global level.

The Know Your Code portal, and the resources herein, are tools to equip the Inherited Retinal Degeneration (IRD) community to advocate for accessible and affordable genetic testing services that will facilitate the accurate diagnoses of their conditions.

Know Your Code was co-created by patients and leading experts for patients, clinicians, researchers, and health policy specialists alike. It includes:

  1. A comprehensive insight into the genetic testing & counselling process,
  2. FAQs from the patient and clinical community, in addition to
  3. Real-world data on the disparities in access to these services, which are often dependent on where a person lives.

This portal will be regularly updated with trusted & validated information with the aim of empowering individuals to be engaged and informed advocates for affordable, accessible genetic testing within their own networks.

There are now almost 300 IRD-associated genes, yet this only permits for definitive genetic diagnoses for 2 of every 3 IRD patients. Routine genetic testing will fast-track the discovery of more IRD-associated genes, paving the way for better understanding of disease pathology and potential therapeutic interventions. Genetic testing enables patients to access appropriate treatments, and is a prerequisite to participate in the increasingly numerous clinical trials becoming available.

However, the benefits of genetic testing extend far beyond clinical and therapeutic impact. When one receives a genetic diagnosis, and “knows their code”, they and their families are enabled to make informed life choices. These choices optimise the continued wellbeing of patients and their families, which can often be severely impacted by progressive vision loss.

The true impact on the wellbeing of IRD patients and their families has come to the fore in recent times, particularly since the launch of IRD Counts; a systematic, patient-led study published in 2019, which laid bare the cost-of-illness for IRD patients living in the UK and Republic of Ireland. Uncovered in the much anticipated, soon to be published US & Canada cost-of-illness study will be an even greater impact on wellbeing, which will have been established by analysing the burden imposed by 14 different IRDs on patients in these regions.

The Patient Perspective

Leighton Boyd, Chair of Retina Australia and a person living with an IRD expressed the urgent need for accessible and affordable genetic testing services. Speaking from Melbourne he said “IRDs are actionable conditions, even if there is no treatment for a person’s specific gene at the moment, knowing your code can help you better understand inheritance patterns and the likely progression of your condition. These are essential services and should be universally available for the empowerment of patients, the progress of research and access to potential therapies”.

The Advocacy Perspective

CEO of Retina International Avril Daly added; ‘there are unfortunately significant variabilities in access to genetic testing services globally. We understand that genetic testing may be considered a niche or unnecessary in already overstretched health care systems, but for the IRD population it is the only way of obtaining an accurate diagnosis. Knowing your code allows patients to not only better understand their condition, but to take action to live with their condition to the best of their ability in the absence of a treatment. Patients don’t just want genetic testing, they need genetic testing, and we hope that this new web portal will provide our patient community, and those who support them, with the tools to advocate for this access’.

The Clinical Perspective

Michel Michaelides, Professor of Ophthalmology at the Institute of Ophthalmology, Moorefield’s Hospital London said at the launch of the portal; ‘This is a landmark piece of work that is of utmost importance to patients affected by IRDs and their families. Genetic Testing is essential in order to have a clear diagnosis of an IRD and provides the opportunity for patients to make informed choices about how they live with their condition. Unfortunately, this choice remains unavailable to many due to inequitable access to genetic testing services. The Know Your Code portal has been designed to provide patients and those who support them with information that can help them to better understand the process through the provision of validated information’.

The Time is Now.

IRDs are actionable conditions, and without access to genetic testing services, patients live with inaction. Retina International and its 46 members on all continents believe there is an urgent need for the disparity in genetic testing & counselling services to be addressed. For this reason, our call to action for Know Your Code is to open the door for everyone to access affordable genetic testing services and know their code.

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