RED ALERT! Overcoming barriers to access
Retina International is advocating for global access to and reimbursement of genetic testing services for IRDs and REDs. Below you will find some background information on advocacy including the work of our existing advocates and member organisations.
Retina International with the collaboration of patients, clinicians, scientists and allied Health Professionals developed this online toolkit to educate the retina community at large on the importance of access to and reimbursement of Genetic Testing services for Rare Eye Disease (RED) and Inherited Retinal Disease (IRD)
Retina International (RI) is a global umbrella organisation of 43 patient-led research charities, voluntary groups and foundations funding and supporting research into rare, genetically inherited and age-related forms retinal disease. Since 1978 RI has fostered and supported collaborations between patients, clinicians, researchers, policy makers and industry in the journey from basic laboratory based research, through the development of supporting infrastructures and related policy to the clinic.
As more patient-led organisations emerge in the retinal research space globally, RI is working to support them to ensure they employ best practice in the development and administration of their research strategies and advocacy initiatives, assisting them with the appropriate advice and support.
There have been significant developments in research for IRDs and REDs leading to the prospect of treatments in the short term. With regional diversities in the process of access to these therapies, RI is working with all stakeholders to undertake global advocacy campaigns to ensure a well informed and united voice in calling for equality of access to diagnosis and treatment for patients living with retinal disease. And to have this voice we need to understand the basics.
It is also imperative that we do not forget the fact that investment must continue to be placed in basic research to ensure no patient with IRDs and REDs are left behind. A fundamental part of research into IRDs and REDs is uncovering the gene responsible for the disease in all of those affected. This not only empowers the patient through knowledge of how their condition may develop and how it is likely to be passed on, it also provides critical information to those working on potential treatments for these conditions.
We know of approximately 260 genes that are responsible for IRDs, but experts believe this represents only 60% of the genes that cause IRDs. Approximately 170 genes remain to be identified. This represents a huge challenge to all stakeholders in our community.
To address this and other challenges, we must improve access to genetic testing services in all regions for all patients. The diversity of access globally is enormous. The inequities that remain leave us all frustrated.
As patient representatives we believe that it is critical to know and understand the gene that affects us and our families. We believe that it is far too simplistic to suggest that these tests should only be provided when there is a realistic chance of a treatment. The patient community does not agree with this statement. Currently there are potential treatments for a small number of IRDs, and as patients we understand this. However we believe that regardless of treatment options we have the right to a proper and full diagnosis of the genetic condition that affects us and our families. This diagnosis will allow us and those we care for to plan our futures and make informed decisions and life choices that will give us and those we care for the best chances in life and outcomes for our health.
Patients living with IRDs and REDs too often describe the stress of ‘not knowing’ and they carry that burden every day. Those who develop health policy must be educated by this community to better understand that access to and reimbursement of genetic testing services for IRDs and REDs should be part of the national health care system.
Retina International believes that it is time to work together to change this reality.
We are sending a RED ALERT to our policy makers that we are entitled as a community to access to and reimbursement of Genetic Testing Services
In 2017 RI surveyed member organisations and individual patients on their understanding of genetic testing. We learnt that patients have a good knowledge of how to access genetic testing services relying on their member organisations at national level to advise them.
What has caused concern is the lack of awareness among medical professionals about the importance of referring patients. A very limited number of patients have had their tests covered by their private health insurance and by far the largest provider of genetic testing services are research laboratories.
We also learnt that there is confusion about the different types of genetic tests available and particularly the difference between a clinical grade genetic test and a genetic test conducted as part of a research project.
The below results highlight the need for greater understanding among medical professionals and health insurers of the importance of genetic testing services for patients with IRDs.
- 62% of respondents to the survey have had a genetic test
- 53% of those who have received a result have done so through participation in a research project – with an aditional 1.15% of respondents receiving test resuts as part of an industry sponsored study. This means that over 54% of patients surveyed are relying on research grade testing. This is unsustainable and raises many concerns.
- 2.30% of respondents had their test part funded by private health insurance.
- 9.20% paid for a test out of their own pocket.
- 14% of those who were referred for a genetic test were referred by their ophthalmologist.
- 3.33% referred for testing by a family doctor.
- 1% referred by an optometrist.
- 90% of those surveyed stated that their local patient organisation assisted them in providing information on genetic testing services.
As patients we are fully aware that REDs and IRDs cause severe vision loss and the impact on quality of life for the individual affected and their families can be immense. While potential treatments are emerging the genetic characteristics of REDs and IRDs mean a genetic diagnosis is a prerequisite for inclusion in clinical trials.
We are concerned that low awareness in the community, particularly among medical professionals and policy makers, as well as issues of cost and reimbursement have resulted in a barriers to access. Retina International and its stakeholders believe that these challenges can be mitigated by educating advocates across disciplines to work in synergy to change this reality.
In providing this basic information it is our hope that the community will become more familiar with the various terminologies and processes. Through experience we know that the more you understand of the basics the better able you will be to advocate at a local level for positive change.
Understanding also what needs to be considered when taking a genetic test is very important. In developing this toolkit we wanted to cover all issues that are relevant to our community and we included points raised by other patients when they were making their own decisions.
There is no way to underestimate the challenge of such a decision and there is much to understand. We hope that by providing patients with information on what to discuss with loved ones before making a decision will be helpful. In explaining what happens at a genetic testing appointment, and what happens after that, patients will know what to expect and will help to clear up many misconceptions and fears that may exist.
We also hope that the delivery of the information from the experts and the patients too is helpful.
In developing this toolkit, Retina International worked with its patient members, clinicians and researchers using focus groups, webinars and surveys to establish the level of knowledge on the subject that exists among member groups and also among individual patients and their representatives. When developing any toolkit to educate your community it is important that you understand their needs and where the gaps in knowledge may be. The results of these surveys can often be surprising and unexpected. Surveys provide great clarity on the level of knowledge of other stakeholder too, for example the medical professionals in the field of general practice and in the case of our community, eye doctors. Through our survey we learned that while our community understand where to go to get advice on accessing genetic testing, 90% contact thier local member organisation, many required informaiotn on the various types of testing and the impact of a diagnosis. Survey tools are easy to access and to use and helpful in tailoring informaiton for a particular audience.
When developing any toolkit or campaign it is important to have the views and experience of all stakeholders in your community. Don’t be afraid to ask them, you will find they really do want to help and remember we may all work in different sectors but we are often working towards the same outcome.
Retina International has always worked closely with its Scientific and Medical Advisory Board –SMAB. They provide us with the best knowledge of what is happening at the cutting edge of research so that we in turn can inform our members. All members of RI have advisory boards made up of scientific and medical experts and this is critical in the work of any research organisation. It is particularly important when working on advocacy campaigns and educational tools, as you must ensure that you have the best available knowledge to provide to your community.
It is important to remember that there are different rules for working with industry depending on where you are based. It is a good idea to review the regulation in your country or region.
The provision of capacity building and advocacy tools is far reaching. Such tools educate stakeholders across all disciplines and encourages collaboration and coordination of effort informing impactful advocacy campaigns, nationally, regionally and globally.
Understanding the rapidly evolving field of genetic testing for REDs and IRDs is critical to building a confident well informed voice for the retina community.
We want to help you to work at a local level to achieve better access to genetic testing services by providing you with the most relevant information. As mentioned already collaborating effectively is the key to achieving our goals.
Equitable access to and reimbursement of Genetic Testing Services will empower patients through knowledge, basic discovery, improved access to clinical trials, expedited innovation, improved access to therapy and delivery of care.
The members of Retina International and the community it supports are working hard at a local level to deliver genetic testing services to their members under what are often challenging circumstances. As patients it is important that we learn from each other and so we have some examples of how some organisations have overcome the barriers to genetic testing in their own countries and regions. Here are some examples:
The United States of America
My Retina Tracker™, an International Registry for Individuals and Families Affected by Retinal Degenerative Disease
My Retina Tracker™ - available at www.MyRetinaTracker.org - is an expanded version of the Foundation Fighting Blindness supported registry for people with inherited retinal diseases.
My Retina Tracker features
- direct on-line access for participants that provides the ability for individuals to enter, store, retrieve, review, update and change their information and disease status at any time
- surveys that will help participants build a personal retinal health record that includes information that may be useful to themselves, their doctors and to researchers
- a “Notes” feature that allows a participant to record their own observations about the progression of their disease
- an “Attachments” feature where electronic attachments, including scanned images and electronic files, can be easily attached to your account – a place to organize and keep important information such as clinical summaries and records
- a de-identified Family ID that allows related participants to signify they are part of a particular family group, without revealing their identities
- a clinical portal that can allow a physician to enter clinical data into the participant’s registry record, if invited by the participant
- a dashboard that allows participants to see, in graphical representations, how their information compares to everyone else in My Retina Tracker, anonymously, of course
Confidentiality and protection of identifiable health information is a top priority. My Retina Tracker was designed with state-of-the-art electronic security to protect participant privacy and ensure ease of use.* Participants control what they include and what they share, but their identity is never revealed.
All participants are assigned a unique Registry ID. Only the Foundation’s Registry staff will have the ability to link a person’s Registry ID to their name. They will only do this when it is important to communicate with the participant.
Each participant is guided through a consent process that allows them to decide how their data can be used. Selections can be changed at any time.
My Retina Tracker also enables qualified retinal researchers from around the world the ability to mine “de-identified” disease data records that may help them better understand retinal conditions and how to treat them. De-identified data has had all pepersonal health identifierremoved, and there is no reasonable basis to believe that the information researchers can see could be used to identify a person.
My Retina Tracker may also be used by investigators looking to accelerate enrollment in clinical trials who demonstrate to the Registry Oversight Committee that they have a scientifically valid, IRB approved study protocol. Once approved, these investigators can search the database and identify the Registry ID numbers of people matching their needs. The staff will then decode the number, and inform that participant how to contact the clinician if they are interested in the trial. Participant names will never be given to researchers directly.
Who Can Join?
- Any person with an orphan inherited retinal degenerative disease (IRD)
- Any unaffected person who is genetically related to a person with an IRD
- Children and adults – there is no minimum age. Minors under 18 should be registered by a parent or guardian.
How to Join:
There are two ways to join:
- On-line at the website www.MyRetinaTracker.org
- By contacting the registry coordinator and requesting a paper copy of the new registry data collection form
- By phone: 1-800-683-5555 or 1-410-423-0600
- By email: Coordinator@MyRetinaTracker.org
Retina South Africa, a patient led organisation concerned with finding treatments and cures for forms of IRDs, is working very hard on a gene discovery project. They became frustrated that they were sending DNA samples overseas for sophisticated Next Generation Sequencing, at great cost and with very long delays. They have now received sponsorship from The National Research Foundation for this cutting edge technology to be made available at the Division of Human Genetics at the University of Cape Town. In order to customise this machine to enable it to find IRD gene mutations, they need to fund a specialised Diagnostic panel and have worked hard to secure this funding.
This is an excellent example of small organisations ensuring that the right infrastructures are in place to further the effort in providing the answers to patients and the knowledge to the innovators.
Target 5000 is project funded by Fighting Blindness in Ireland aimed at dscovering the genes of the estimated 5000 people in the country affected by an IRD. Dr Paul Kenna, one of the clinicians carrying out the work, explains what is involved in the testing process: “A patient can expect an in depth clinical examination. This is then combined with a genetic analysis which allows us to examine in detail the sequence of individual building blocks; the two go hand in hand”
Until now, one of the challenges confronted by someone with an inherited retinopathy was the lack of a precise diagnosis. It is often impossible to tell which specific type of retinal disease a patient has based on simply looking at the eye, because these are some of the most complicated of all genetic conditions, involving almost 200 genes.
Target 5000 offers the possibility of genetic diagnosis for anybody in the country with a clinical diagnosis of inherited retinal degeneration. Ultimately, for any inherited retinal condition, the true diagnosis is at the genetic level. It can be quite easy for an eye doctor to make a clinical diagnosis of retinitis pigmentosa (RP) but RP at a genetic level is extremely varied, with many different genes causing different forms. Precise diagnosis can only be achieved by actually examining the genes. That essentially is what Target 5000 is.
My name is Avril Daly and I have been involved in patient advocacy for many years now. I work as the CEO of RI and I am affected by an IRD. I work with many others who are living with rare and inherited eye diseases and we believe that the time has come for our community to work more collaboratively to achieve our collective goals.
We live in a rapidly evolving world and sometimes it is hard to keep up with developments not only in technology but also in health policy. This can make advocacy difficult, but it also makes it much more necessary. Sometime it may seem like an uphill struggle and some patients who are interested have said it can feel intimidating as there is so much to understand. As a community we learn from each other and develop the skills we need together to work for positive change. When things move forward, even a little and the impact of advocacy work is felt it can change lives and be massively rewarding. However, the more people that are involved in advocacy campaigns, the more voices are heard and the more likely we are to succeed.
The rapid development of accessible global communication tools means that we can work more closely than ever before. Although we work regionally and nationally, our work is aligned globally. We regularly communicate with one another and we find advice and support, and share our varied experience.
Working as an advocate in the retina space I am always conscious of the progressive nature of the diseases that me and my colleagues represent. We get to know the lived reality of living with various rare and inherited eye disease and we witness their impact, particularly their progressive disabling nature. These conditions continue their progress while we are not looking; IRDs and REDs do not take a vacation. They don’t stop affecting people because you haven’t been in contact for a while. They are always there.
While you are dealing with your own reality of life with an IRD or RED, so too are others, across seas, across borders and across continents. They face the same realities and the enormity of that is never ever taken for granted. It is this collective reality that motivates us to fight harder for positive change for the whole community.
As a global community we draw on each other’s energy every day, connecting across disease areas (RP LCA, Stargardt, Ushers, Choroiderimia and many more) and across borders (cultural, linguistic and geographic). The willingness to do this is authentic and is necessary if we are to be supported and respected.
It is this outward facing view and constant search for knowledge that has created this global movement. Most communities like ours are forged from the need to reach across borders because of the nature of the conditions that we live with, often in small isolated populations. Over four decades the RI community of advocates have strived to convince civil and political institutions that working together, across borders, is a win-win situation.
This didn’t happen overnight and it required all of the resources at our disposal – the human capital of this community; the patients, their representatives, the clinicians, the researchers, the policy makers and industry. We have achieved much working together, but there is much yet to be done. RI and its members support research that we hope will lead to treatment. We understand that there are many steps along the journey to a treatment starting with the all-important diagnosis! DIAGNOSIS IS KEY!
As patient advocates, the organisations that we represent work hard to develop policies to aid the delivery of better quality of life through the delivery of better care. We work across the entire sector from primary care to tertiary care, from improved diagnosis to better access to innovative therapies, from developing new care pathways to improved infrastructure to support retinal research. We work to ensure that we are involved in the process of therapeutic development, including clinical trials design, which will have the best impact for all patient populations. We want to put the patient perspective at the centre of the lifecycle of drug development, there really is so much for us to consider and to legislate for.
Collaborative patient led groups like ours will continue to work to provide patients across borders with the tools they want and need to ensure that they are informed patient advocates in all areas that affect them. Our community has cited the issue of Genetic Testing as an advocacy priority. There is too little awareness about the role it plays in diagnosing IRDs and REDs. We have developed this toolkit on genetic testing out of a genuine sense of collective frustration. Access to these services should be prioritised but not only are they not, their purpose is misunderstood.
If you have had a genetic test and you have discovered your gene then you are fortunate. You will appreciate the clarity it brings to you and to your family. This has been described as ‘relieving the burden’ that has been carried daily. The relief of finally knowing how the condition will progress and how it may be inherited. You and your loved ones may have been in a position to make the best possible choices regarding education and career, or even where to live. You may learn how nutrition can be important to your condition. Also, you could be in a position to contribute to research, participate in a clinical trial or you may have the potential to receive treatment.
All of these life changing outcomes should not be the reserve of the few. Patients believe that these services should be available to the many – to all.
We would really like to hear from you on how we can work better and smarter to ensure that genetic testing services are accessible and reimbursed globally.
We are sending a RED-ALERT to policy makers globally. We are dissatisfied with the current position on genetic testing and the lack of services to patients living with IRDs and REDs. We will make our voices heard,
The real work starts now. Together we can develop the building blocks for a positive and bright future that we can all share!
CEO, Retina International