Caring for Rare Genetic Disease: A Vision for the Future

Abstract

ABSTRACT The United Nations, 2021 resolution to promote and protect the human rights of the estimated 300 million People Living with a Rare Disease and their families, set a milestone worldwide. 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‐up, 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‐organization 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‐sharing frameworks, partnership with patient advocacy organizations, and meaningful representation of people living with rare disease in governance, research, and innovation.