IRDiRC conference in Paris: an event to be remembered
Paris played host to the third conference of the International Rare Diseases Research Consortium (IRDiRC) on 8-9 February 2017, welcoming around 300 participants from around the globe, including rare disease researchers, clinicians, funders, political decision makers, patient organisation representatives and pharmaceutical industry members. Five years have passed since the official launch of IRDiRC and considerable advances have been made in rare diseases research. Indeed, the goal set by IRDiRC of delivering 200 new therapies for rare diseases and means to diagnose most rare diseases by 2020 has been passed.This third conference, following editions in Dublin (2013) and Shenzhen (2014), was perfectly timed to reflect upon the progress made to date and to identify the barriers to be overcome by the Consortium in order to build on its successes and attain even more ambitious goals.
Some goals reached and new challenges to overcome
The conference opened with a session on the Consortium’s history and achievements, led by two key founding figures of the Consortium, Dr. Ruxandra Draghia-Akli of the European Commission’s DG Research and Innovation, and Dr. Francis Collins, of the National Institutes of Health (via video message). Dr Draghia-Akli delivered a review of the ‘stepping stones towards success’ put into place by the Consortium, which has led to an early attainment of one of the two initial goals set in 2011, namely that of 200 new therapies by 2020. Paul Lasko, former Chair of the IRDiRC, reviewed the activities and achievements of the IRDiRC since its launch. These include the establishment of the IRDiRC Recognized Resource label, the International Consortium of Human Phenotype Terminologies and Matchmaker Exchange, and specific task forces to investigate key issues (patient-centred outcome measures, small population clinical trials, automatable discovery and access, data mining/repurposing, and privacy-preserving data linkage). Dr. Chris Austin (NCATS-NIH), Chair of the IRDiRC, then provided an update on the governance of the IRDiRC. In order to adapt to evolving composition of the Consortium which now brings together 40 funders are members from 17 countries, the Executive Committee has now become the Consortium Assembly. The IRDiRC’s next challenge is to bring lower and middle-income countries into the IRDiRC in order to widen the reach and impact of the Consortium, as well as to identify new goals able to inspire and renew the commitment of players in the field.
The audience were next whisked on a tour of the world as presentations were made on the approaches to rare disease research in Japan, the European Union, the USA, and Australia, before Anders Olauson, of the Ågrenska Foundation (Sweden) presented the newly formed United Nations NGO Committee for Rare Diseases and the progress made to date in placing rare diseases on the UN’s agenda. There was a discernable leitmotif in these presentations, namely the importance of the articulation between research and healthcare, both in ensuring that research translates into improved quality of life for those living with rare diseases, but also in establishing a virtuous cycle between the fields of rare disease research and care in generating knowledge on these diseases.
Time to transform the rare disease research landscape
As always, the conference was the perfect opportunity for rich discussions and networking possibilities for the participants on the sidelines of the parallel sessions which themselves were wide-ranging in breadth and depth of perspective. Participants has the choice of following sessions on new approaches in diagnostics research, foundational research and therapeutics research, as well as on trends in the regulatory and access domain, patient advocacy, and companies. These sessions were the occasion for participants to discover a number of innovative and effective paradigms that could inspire the IRDiRC in their activities and help transform the rare disease research landscape.
The closing session, led by the Chair of the IRDiRC, Dr. Austin, and the co-Chair of the IRDiRC Prof. Hugh Dawkins, was a lively, participative round table where the audience was invited to imagine ways in which rare disease research could be transformed by the IRDiRC in the next ten years. This discussion was framed by a presentation of the draft IRDiRC goals, still under discussion, for the period 2017-2027. The overarching vision for these draft goals would be to « enable all people living with a rare disease to receive the diagnosis, care, and an available therapy within a year of coming to subspecialty medical attention ». More specifically, possible new goals for the next ten years included : diagnosis of all patients having a previously identified rare disease within one year of coming to subspeciality medical attention, for all currently unsolvable cases to enter a globally coordinated diagnostic pipeline, and to reach the target of 1000 new therapies for rare diseases approved in a major market or to reach a target of five times as many therapies at a fifth of a cost. It was highlighted that the current ecosystem will not be capable of producing this goal ; operational, scientific and regulatory barriers will have to be overcome and there will need to be improved coordination and interaction between the fields of research and healthcare. New pipelines and cross-sectoral/regional collaborations will need to be imagined and constructed. In particular, patient data needs to be more easily accessible and new, more rapid, ways to sharing research findings need to be explored. New approaches to financing national history studies were also evoked : data-mining and new methodologies could speed up work in this domain. For such data-mining to be possible, appropriate standards will need to be promoted and worked upon with publishers. Audience members also highlighted that nearly 30% of rare disease is not genetic in origin, and for these diseases, bioinformatic approaches to achieving a clinical diagnosis from symptoms would be hugely beneficial. The increasingly challenging requirements for medical devices for rare diseases was also evoked as a subject that should be considered by the Consortium for further work.
Access to these new means of diagnosis and treatments was also a key topic of discussion : provision of healthcare is a matter of national prerogative, outside of the scope of the IRDiRC’s mission to advance rare disease research, however there are levers of action that could be within the Consortium’s reach, such as research on methodologies to assess access and cost-effectiveness of treatments, and promotion of socio-economic research in the field of rare diseases. Finally, the session ended with a debate on the feasibility of implementing metrics to assess the progress towards the draft overarching vision put forth for discussion.
The two days ended on a positive note : the rare disease research community, after these first five years, is becoming a consolidated force, capable of working to achieve ambitious new goals and transform the rare disease landscape, and thus patients’ lives. Much has been achieved and yet much more is to come, but the will and the desire to work together across borders is greater than ever.