Making Rare Diseases Count 2026

Rady Children’s Institute for Genomic Medicine (RCIGM), based in San Diego, US, has emerged as a global leader in applying next-generation sequencing to rare disease diagnostics and screening. Data excellence, innovation and a focus on improving health outcomes for children are central to its model. Scaling rWGS and achieving reimbursement One of RCIGM’s flagship achievements has been the roll- out of rapid whole genomic sequencing (rWGS) services across more than 100 clinical sites in 29 US states. Its model integrates sequencing, bioinformatics and clinical interpretation into a seamless end-to-end workflow, transforming care for some of the most vulnerable patients: critically ill children with diseases of unknown origin. RCIGM has systematically validated rWGS, demonstrating broad acceptance by families and clinicians, as well as cost savings by reducing unnecessary interventions and shortening hospital stays (see Figure 9). Between 37% and 50% of children who undergo rWGS receive a diagnosis, and many experience immediate changes in clinical management.34 These results helped secure US healthcare programme Medicaid coverage for rWGS in 18 US states as of 2025, alongside coverage under most major national private insurers. Extending to newborn screening and AI Another flagship initiative is BeginNGS, a research consortium applying WGS to screen newborns and infants for more than 500 rare diseases. The programme aims to demonstrate the utility and cost-effectiveness of sequencing in newborn screening, deepen understanding of rare disease incidence and prevalence and engage stakeholders in preparation for potential population-wide implementation. RCIGM has also applied AI to genomic and clinical data, improving interpretation speed and accuracy, identifying undiagnosed patients and extending access to advanced diagnostics across diverse settings. Through Project Bridge, researchers have used AI to analyse electronic medical records from the Rady Children’s Health system to flag patients likely to have undiagnosed rare conditions, including older individuals who missed early genomic testing and spent years navigating the system without answers. These innovations highlight the central role of data excellence in rare disease progress. By generating, analysing and sharing high-quality data, RCIGM has shown how targeted investment in cutting-edge diagnostics can deliver rapid, life-changing answers for children and families, while also generating compelling savings for healthcare systems.Figure 9 – Impact of rWGS on patients, clinicians and health systems Source: Rady Children’s Institute for Genomic MedicineCASE STUDY 2 Rady Children’s Institute for Genomic Medicine (RCIGM) Quadruple AIMImproved patient experience staff experienceImproved cost of care LowerBetter healthoutcomesregardless of the result 97% of families found rWGS helpful 77% of surveyed clinicians found rWGS usefulin clinical management due to results26% of patients experienced change $14K per-patient cost reduction on inpatient care when rWGS was provided as a first-tier test Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity 18