In the field of rare diseases one of the key points of progress is to ensure that rare disease patients benefit from advances in medical sciences. To promote this, the global biotechnology company Shire hosted a Rare Disease Summit yesterday in London, which focused on the policy environment for patient access to orphan drugs and how this can be improved. The Summit was also marked by the launch of a report: “Equity and Access – Making the UK a Rare Disease Leader”, funded by Shire and developed by an expert steering group which includes recommendations to improve access to orphan drugs in the UK.
Segolene Ayme from the French Institute of Health and Medical Research (Inserm) and Bertram Haussler from the IGES Institute presented French and German policy developments in improving the quality of care and access to orphan drugs for rare disease patients.
Josie Godfrey, a former NICE director, talked about the creation of the Advisory Group for National Specialised Services (AGNSS) in the UK and how before there had been no systematic approach to look into rare and ultra rare diseases. Josie focused on the point that everyone should get access to the health system with the same prices and same effectiveness.
Christine Lavery from the MPS Society discussed issues with funding for rare diseases, mentioning that it is important to recognise affordability and budget impact but that the Pharmaceutical Price Regulation Scheme (PPRS) in the UK does not put any money into rare diseases and shows no benefits for these patients.
Trevor Cole from Birmingham Women’s Hospital talked about the “perceived difficulties” in the rare disease field such as the small numbers of patients, the surrogate end points, the fact that there is often no possibility of comparison with other conditions and the high variability between diseases and discussed how we can benefit from these difficulties. For example, small numbers keep the costs down, patients can be followed in a smaller number of centres, there is more detailed observation and therefore it is easier to pick up more nuanced changes in each patient. The endpoints can be considered more critically with expertly designed and run studies and a better understanding of the disease process allowing the identification of better surrogate markers.
Ulf Staginnus from Shire gave an industry perspective mentioning that alternative pricing is needed along with engaging with a broader perspective – thinking about how can rare disease research and drug discovery benefit society – and finding alternative models.
Virginia Acha from the Association of the British Pharmaceutical Industry (ABPI) talked about the importance of raising public consciousness of rare diseases and how partnerships are key since most innovations in rare disease drugs or devices happen by combining different fields such as biology, engineering and nanotechnology.
Neil Churchill from NHS England shared his experience as director of patient experience dealing with the difficulties patients have with the system such as lack of involvement and poor communication between patients and physicians. Neil emphasised that good experience of care makes patients safer and gives them better outcomes.
Nick Meade from Genetic Alliance UK gave a talk about the patient voice in rare disease decision making and how patients should play a role as policy makers, decision makers, information providers and how they should be able to make informed, private and individual choices about personal care provision. Nick discussed how NHS England is failing to bring the patients into policymaking and the lack of transparency and communication that exists around patients as decision makers as members of Clinical Reference Groups.
Tom Fowler from Genomics England discussed the 100,000 Genomes project that has been discussed in a previous blog. He highlighted the impressive amount of data gathered – 21 petabytes – and how this will bring benefits for NHS England patients.
The meeting ended with some discussion and closing remarks and all delegates left with the idea that there is a long way to go to ensure that rare disease patients receive the care they deserve and how debate and collaboration between all stakeholders in the UK, in Europe and worldwide is essential.