Abstract
BackgroundRare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing. To maximize the impact of and to further build on these developments, there is a need for model consent clauses for rare diseases research, in order to improve data interoperability, to meet the informational needs of participants, and to ensure proper ethical and legal use of data sources and participants’ overall protection.MethodsA global Task Force was set up to develop model consent clauses specific to rare diseases research, that are comprehensive, harmonized, readily accessible, and internationally applicable, facilitating the recruitment and consent of rare disease research participants around the world. Existing consent forms and notices of consent were analyzed and classified under different consent themes, which were used as background to develop the model consent clauses.ResultsThe IRDiRC-GA4GH MCC Task Force met in September 2018, to discuss and design model consent clauses. Based on analyzed consent forms, they listed generic core elements and designed the following rare disease research specific core elements; Rare Disease Research Introductory Clause, Familial Participation, Audio/Visual Imaging, Collecting, storing, sharing of rare disease data, Recontact for matching, Data Linkage, Return of Results to Family Members, Incapacity/Death, and Benefits.ConclusionThe model consent clauses presented in this article have been drafted to highlight consent elements that bear in mind the trends in rare disease research, while providing a tool to help foster harmonization and collaborative efforts.
Highlights
Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing
Not all the proposed clauses are exclusive to the rare disease context, certain clauses are of particular importance to consent procedures for rare disease research and complement existing core elements found in “classical” or “generic” consent forms
In September 2018, the Model Consent Clauses (MCC) Task Force met at the Rare Disease Platform in Paris, France, to develop and draft the model consent clauses (Additional file 1)
Summary
Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing. Contributing factors include the discovery of novel genes with new sequencing technologies, global collaborative efforts and commitments, and improved data and resource sharing Adding to this are the growing number of genotype-phenotype datasets and matchmaking platforms, along with the trend towards patient-centered research, whereby patient organizations play a leading. To address this need, the International Rare Diseases Research Consortium (IRDiRC) and the Global Alliance for Genomics and Health (GA4GH) met to develop model consent clauses for rare disease research. It is hoped that together these clauses will ensure that research involving patients with rare conditions be deployed effectively to promote and catalyze collaborative multinational studies through interoperable and responsible research practices endorsed by IRDiRC and GA4GH
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