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Andalusia Launches 109-Measure Rare Disease Plan as Fundraising Boosts Genomic Testing

New initiatives target earlier diagnoses across Spain, reflecting pressure to shorten years-long waits.

Overview

  • Regional authorities in Córdoba detailed a package of 109 actions with nearly €9 million to speed diagnosis, strengthen coordination and expand multidisciplinary care for people with rare diseases.
  • Officials said the plan will enhance screening, increase genetic testing capacity and integrate genomic data into digital health records, serving an estimated 45,000–50,000 people in the province and about 600,000 in Andalusia.
  • The 'El viaje de Nica' campaign reported €139,236 raised from 2,761 donations, funding whole‑genome sequencing through IMPaCT Genómica and family support services at Spain’s rare disease federation.
  • IMPaCT Genómica says more than 2,000 patients have enrolled and diagnostic yield has improved by 18%, with new funds earmarked to extend whole‑genome studies to more families regardless of their location.
  • Despite progress, patients often wait over six years for a diagnosis, many conditions remain outside standard coverage lists in countries such as Argentina, and Mexican insurers frequently exclude preexisting conditions with low health policy uptake at 5.6%.