Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22–24 January 2025

Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Horn, Ruth, Avram, Elena, Banka, Siddarth, Boardman, Felicity, Charlton, Victoria, Drummond, Mike, Favresse, Roseline, Ferdinand, Angeline, Freis, David, Galasso, Ilaria, Großmann, Nadine Z., Halley, Meghan, Henriques, Sasha, Honné, Hadewych, Houge, Sofia Douzgou, Kirmani, Salman, Klaiman, Tamar Nov, Lalova-Spinks, Teodora, Malmgren, Charlotta Ingvoldstad, Meade, Nick, Nicod, Elena, Ormond, Kelly E., Prainsack, Barbara, Esch, Hilde Van, Wonkam, Ambroise, Wynn, Sarah L and Forzano, Francesca 2026. Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22–24 January 2025. Presented at: Fondation Brocher:Rare Diseases, Genomics and Justice, Geneva, Switzerland, 22–24 January 2025. Journal of Community Genetics. , vol.17 (4) Springer, 10.1007/s12687-026-00911-w

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Abstract

Genomics is transforming health care but its implementation raises challenges. This paper reports a 2025 workshop on justice in the implementation of genomics for rare disorders. The workshop goals were to develop a consensus understanding of the problems faced by rare disease patients and families where justice is at stake, to achieve a shared perspective on support for rare disease patients, and to consider the implications for justice in several areas of rare disease genomics, in both research and healthcare. We heard about the diverse experiences and needs of patients. Inequity between different rare diseases is marked. The need for coordination of care for rare disease patients is under-recognized but good models of rare disease care exist. The value of conscientious professionalism to nurture a rare disease mindset needs to be emphasized in the training of each new generation of healthcare students//trainees. The circumstances of different population groups differ systematically. The needs of indigenous and other historically marginalised groups must also be addressed. However, the subordination of individuals to the benefit of the population (i.e. eugenics) must be resisted. Those engaged in genomics projects or diagnostics may need protection from hype and misuse of their personal data, There are different perspectives on the fair allocation of resources to healthcare and research for rare conditions. Health economics and health technology assessment can be practised equitably, so as to meet the challenges of rare disease clinical trials and address the needs of patients and communities.

Item Type:	Conference or Workshop Item - published (Paper)
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Publisher:	Springer
ISSN:	1868-310X
Funders:	MRC
Projects:	Rare Disease ELSI Node
Date of First Compliant Deposit:	6 July 2026
Date of Acceptance:	9 June 2026
Last Modified:	28 Sep 2026 10:37
URI:	https://orca.cardiff.ac.uk/id/eprint/187919

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