Scoping Review of Global Kidney Genetics Clinic Models and Outcomes

Genomic testing is reshaping nephrology practice, yet the implementation and outcomes of kidney genetics services remain poorly characterized.

We conducted a 2-part scoping study comprising the following: (i) a literature review (Joanna Briggs Institute methodology, Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for scoping reviews compliant; Open Science Framework 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.

Sixty studies were included, predominantly from North America (n = 23), followed by Europe (EU; n = 17), Australia and New Zealand (AUS/NZ; n = 10), United Kingdom (UK) and Ireland (n = 5), and Asia (n = 5). Among 25 studies describing clinic models, the following 4 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, whereas 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 AUS/NZ, whereas 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 AUS/NZ, UK, and EU; phenotype-driven panels with or without reflex testing were more common in North America.

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 and sustainable genomic services.