21 October 2019

Utrecht University develops knowledge agenda on rare diseases

Utrecht University researchers have worked with the Netherlands Organisation for Health Research and Development (ZonMw) to develop a knowledge agenda on rare diseases. This will be used by the Dutch Ministry of Health, Welfare and Sport to guide research and innovation in the field.

The breadth and heterogeneity of rare diseases pose a challenge. Limited patient populations and therefore limited market opportunities means certain types of rare diseases are ignored by research organisations and companies. In addition to this, the field covers a broad range of activities including fundamental research, prevention, diagnostics, therapy and care, some of which get more attention than others. This emphasises the need for additional support for research and innovation.

Expertise from the Innovation Studies group of the Copernicus Institute of Sustainable Development

Guiding future research and innovation

In order to guide the direction and priorities for future research and innovation, the Dutch Ministry of Health, Welfare and Sport asked The Netherlands Organisation for Health Research and Development (ZonMw) to develop a knowledge agenda. ZonMw requested the expertise of researchers from the Innovation Studies group at the Copernicus Institute of Sustainable Development at Utrecht University.

Exploring expert priorities for diverse aspects of rare diseases

Utrecht University researchers used the Delphi method to explore expert priorities for diverse aspects of rare diseases, including diagnostics, fundamental research, clinical research, drug research, care research, social and psychological research. Experts with diverse backgrounds, including patient organisations, general practitioners, companies and academic hospital researchers actively participated in the multiple rounds of surveys that are part of the Delphi method.

The purpose of a Delphi study is to create the most reliable consensus among a group of experts on a given topic. “First we retrieved all possible research areas from documents and from experts. We then categorised the knowledge questions and let the experts prioritise them. Finally, the experts validated the list of prioritised knowledge questions,” say the authors.

Knowledge priorities
  • Fundamental research: natural course of disease, pathogenesis of rare diseases, disease models, genetic mutations that cause diseases
  • Prevention: role of environmental factors, family member screening, possibilities of large-scale screening, extension of neonatal and prenatal screening
  • Diagnostics: (non-) genetic biomarkers for detecting and predicting faster diagnosis of rare diseases and for predicting the severity of symptoms, diagnostics for general practitioner, causes of delays in diagnostics
  • Therapy: genetic interventions (e.g. CRISPR-Cas9), personalised therapy; therapy to prevent disease progression; treatment protocols and centralization of treatment
  • Healthcare: eHealth, multidisciplinary integrated approach and administration, added value of expertise centers and European Reference Networks on healthcare, optimal use of patient experiences, effect of rare disease care on quality of life and social participation
Insights
  • Approximately a fifth of priorities on the agenda also appeared on previous knowledge agendas (most in prevention, least in fundamental research)
  • Therapy is a broad term: it is not just about drugs but also about non-drug treatments
  • There was a high level of consensus among participants. Respondents had similar priorities, with researchers and patient organisations showing almost complete alignment. Patient organisations showed to prioritize closest to the weighted average, universities the furthest
  • The project resulted in a knowledge agenda rather than a research agenda: some questions require scientific research whereas other questions for example call for combining existing knowledge.

You can download the report here.

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