In the lead up to our R&D Conference on 20 November, one of our speakers, Alastair Kent OBE, Director at Genetic Alliance UK, writes a guest blog about the Prime Minister’s commitment to put more money and time into the research of rare diseases.
When the Prime Minister announced the launch of a bold venture to sequence the whole genomes of 100,000 NHS patients with the aim of improving research and patient care there was considerable excitement in the media and the academic and clinical community. The decision to make rare diseases one of the principle focuses of this initiative resulted in a huge upsurge of interest amongst those affected by one of the 6000 plus rare diseases currently identified, and even greater excitement for those living with a condition which is currently difficult or impossible to diagnose.
Patients living with a rare disease often experience delays and difficulties getting a diagnosis that makes the journey of Odysseus seem like a stroll in the park! Imagine knowing that you, or someone you love, have a serious, potentially life-limiting health problem but no one can tell you what it is, and no one can tell you what to expect. Imagine waiting for years, bouncing around the NHS like a bee in a bottle, bouncing off the glass walls but not finding the small aperture at the top that will let you out. Visiting clinician after clinician, none of who can say to you “I know what this is, and this is what we can do about it”. Having test after test, sometimes having the same one more than once.
And that is not the end of the story. Patients with rare diseases are frequently misdiagnosed, and not just once. A misdiagnosis gives false hope – it cons you into thinking that you can access information, begin to understand what has happened to you or the one you love, and even where there is no intervention that will alter the progression of the disease, it lets you think and plan for a future which is not going to happen because it is based on a lie. Worse than that, a misdiagnosis may expose you to interventions that will not work—because they are targeted at a disease you don’t have—and cause you to miss out on interventions that might help, where these are available, resulting in avoidable harms being allowed to happen.
No wonder that the rare disease community welcomed the Prime Minister’s announcement. At last they were getting the attention that they deserved. Patients and families have felt for too long (with some notable exceptions, such as the Wellcome Trust) that if they wanted to see research under way then they had to raise the cash themselves and get the academic community to pay attention to the opportunities they have made possible to finance blue sky research into the causes of rare genetic diseases. When Genomics England (the vehicle set up by the Department of Health to deliver the Prime Minister’s commitment) announced the rare disease pilot schemes in three centres in England, rare disease patients were queuing up to volunteer their, and their children’s DNA. Indeed, when the announcement of the agreement between Genomics England and Illumina regarding the sequencing capacity hit the press in the summer of 2014 rare disease patients and families were spontaneously contacting Genomics England to volunteer.
Why should this be? After all, a genetic diagnosis doesn’t immediately change anything. You, or your child, are the same tomorrow as you were yesterday. But for many families in this position, having a diagnosis is a ground-breaking event. It says you are not alone and gives you the opportunity to link up with others for peer-to-peer support. It allows for the possibility of generating a critical mass that will attract the attention of academics and clinicians, who will possibly be able to work out what has gone wrong with your basic biology and eventually attract the attention of industry with a view to developing a therapy. Of course, none of this will happen immediately. Most patients and families where rare diseases are a fact of daily life are realists. Patients and families hope for a miracle—who wouldn’t in their situation?—but they know that ‘if something sounds too good to be true, then it probably is’, which is why the entirely legitimate expectation of direct benefit is leavened by a large dose of altruism and the determination that other families, if at all possible, should be spared their experience.
This is why the Genomics England project is so important. It represents an attempt to address the issues facing rare disease patients and their families at scale. It is an opportunity to generate the critical mass that will ultimately unlock the genome for all those with a rare disease, not just those where there is an active patient organisation raising money and funding research. It is a demonstration of the power of partnership across sectoral boundaries—public, private and voluntary—to both generate the resources to address the issues, and to make real the fundamental founding principles of the NHS that all patients are entitled to services and support, and that no problem is too difficult to address. Genomics England is facing a daunting task if it is to deliver on the expectations of the Prime Minister and of the rare disease community, but there is tremendous good will from rare disease patients and their families towards this venture, a great willingness to work together to make it a success, and to see the lessons learned translated into ongoing research and clinical care when this experiment comes to an end in 2017.
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Alastair Kent OBE
Director, Genetic Alliance UK