Scoping Review of Global Kidney Genetics Clinic Models and Outcomes

Introduction Genomic testing is reshaping nephrology practice, yet the implementation and outcomes of kidney genetics services remain poorly characterized. Methods We conducted a two-part scoping study comprising (i) a literature review (JBI methodology, PRISMA-ScR compliant; OSF registration doi.org/10.17605/OSF.IO/N32VA) of English-language publications (2000–2025) describing kidney genetics services and outcomes, and (ii) an international stakeholder consultation of clinic leads to capture real-world implementation experiences. Results Sixty studies were included, predominantly from North America (n=23), followed by Europe (n=17), Australia/New Zealand (n=10), United Kingdom/Ireland (n=5), and Asia (n=5). Among 25 studies describing clinic models, four types were identified: multidisciplinary integrated (n=12), nephrologist-led (n=9), mainstreaming (n=2), and traditional genetics referral (n=2). Outcome reporting focused on diagnostic yield (92%), with limited data on timeliness (16%), patient-reported outcomes (12%), or implementation outcomes (4%). Test penetration was high across regions and models, while diagnostic yield varied. Nephrologist-led clinics demonstrated comparable performance to multidisciplinary models when adequately supported. International stakeholder consultation (n=48) revealed regional diversification of clinic models. Multidisciplinary clinics predominated in Australia/New Zealand, while nephrologist-led models were more common in North America and Asia, reflecting differences in funding, laboratory access, and resources. Comprehensive sequencing with virtual panels predominated in Australia/New Zealand, United Kingdom, and Europe; phenotype-driven panels ± reflex testing were more common in North America. Conclusions Kidney genetics care is expanding but remains unevenly implemented. Nephrologist-led models can be effective with support. Patient selection may influence diagnostic yield more than testing modality. Standardized outcome reporting and theory-driven implementation evaluation are essential for equitable, sustainable genomic services.