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At the same time, the successful diagnostic results of large genomic initiatives are reshaping rare disease healthcare in many countries. However, increasing diagnostic capability does not necessarily translate into improved care. Patients, families, and healthcare professionals navigate challenges in variant interpretation and prognosis, uneven access to specialist expertise and follow\u2010up, limited natural history information and therapeutic options, and the wider familial and reproductive implications of genomic findings. Healthcare systems also face challenges related to workforce and service capacity, data governance, equity, research sustainability, and the integration of genomic technologies into longitudinal care. Drawing on published evidence, patient\u2010organization experience and illustrative clinical scenarios, we argue that the value of genomic medicine for rare disease should be assessed beyond diagnostic yield alone and across individual, clinical and societal levels. Our vision for the future includes accessible education for families and professionals, multidisciplinary and longitudinal rare disease services embedded within publicly funded healthcare, sustainable research and data\u2010sharing frameworks, partnership with patient advocacy organizations, and meaningful representation of people living with rare disease in governance, research, and innovation.<\/jats:p>","DOI":"10.1002\/jgc4.70284","type":"journal-article","created":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T06:41:12Z","timestamp":1789540872000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Caring for Rare Genetic Disease: A Vision for the Future"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5714-3905","authenticated-orcid":false,"given":"Ruth","family":"Horn","sequence":"first","affiliation":[{"name":"Ethics of Medicine, Faculty of Medicine Institute for Ethics and History of Health in Society, University of Augsburg  Augsburg Germany"},{"name":"Ethox Centre, Nuffield Department of Population Health University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6531-8181","authenticated-orcid":false,"given":"Sarah L.","family":"Wynn","sequence":"additional","affiliation":[{"name":"Unique, Rare Chromosome Disorder Support Group  Oxted UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8890-7544","authenticated-orcid":false,"given":"Sofia Douzgou","family":"Houge","sequence":"additional","affiliation":[{"name":"Frambu unit Norwegian Centre for Rare Diseases  Siggerud Norway"},{"name":"Brain disorders unit Norwegian Centre for Rare Diseases  Oslo Norway"},{"name":"Department of Medical Genetics Haukeland University Hospital  Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,15]]},"reference":[{"key":"e_1_2_21_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2024.108453"},{"key":"e_1_2_21_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.70008"},{"key":"e_1_2_21_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/15265161.2026.2645618"},{"key":"e_1_2_21_5_1","doi-asserted-by":"publisher","DOI":"10.4045\/tidsskr.24.0019"},{"key":"e_1_2_21_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/medethics\u20102013\u2010101887"},{"key":"e_1_2_21_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.70102"},{"key":"e_1_2_21_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102019\u2010106292"},{"key":"e_1_2_21_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u20100817\u20102"},{"key":"e_1_2_21_10_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2024.104977","article-title":"Telehealth for Rare Disease Care, Research, and Education Across the Globe: A Review of the Literature by the IRDiRC Telehealth Task Force","volume":"72","author":"Chen F. 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