Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders

Abstract

Recent interest in personalized medicine has highlighted the importance of research in ethical, legal, and social issues (ELSI). Issues in ELSI research may be magnified in the rare diseases population (i.e., small numbers of affected individuals, challenges in maintaining confidentiality, and paucity of treatments for diseases where natural history information may be limited). More than other areas of research, potential barriers include the lack of funding opportunities and appropriate review processes for applications to funding agencies. The ELSI Working Group of the International Rare Diseases Research Consortium (IRDiRC) performed an informal survey on ELSI funding initiatives to learn more about different funding mechanisms and to identify potential gaps in funding opportunities. The Working Group discusses these challenges and highlights the role of funding agencies and partners such as patient advocacy groups, specialists in social sciences and humanities, and clinicians to advance ELSI research in rare diseases.

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Acknowledgements

Members and contributors of the IRDiRC ELSI Working group included ALH, HD, RI, DJ, NL and MP. In addition, we would like to thank Domenica Taruscio (ISS, Italy) and Manuel Posada (ISCIII, Spain) for their review and feedback on the manuscript.

Funding

The IRDiRC Scientific Secretariat was supported by the European FP7 contract “SUPPORT-IRDiRC”(N° 305207). Daria Julkowska received funding from the European Union’s Horizon 2020 Research and Innovation Program under grant agreement EJP RD N°825575.

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Correspondence to Adam L. Hartman.

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The authors declare no competing interests. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institute of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, or the US Government.

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Hartman, A.L., Hechtelt Jonker, A., Parisi, M.A. et al. Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders. Eur J Hum Genet 28, 174–181 (2020). https://doi.org/10.1038/s41431-019-0513-3

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