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E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
Please follow the instructions below to input your abstract title.
Abstract titles should be brief and reflect the content of the abstract.
Kidney genetics services are emerging given clinical utility and cost-effectiveness of testing when applied early. Yet, routine integration is impeded by service complexity and scarce data. We conducted a scoping review and international survey to map evidence, define care models, and summarize key outcomes; a companion Part 2 synthesizes implementation determinants and strategies.
We conducted a two-part study comprising (i) a scoping review (JBI methodology, PRISMA-ScR compliant; OSF registered) of English-language publications (2000–2025) describing kidney genetics services and outcomes, and (ii) an international survey of clinic leads to capture real-world service structures and implementation experiences. Descriptive synthesis integrated review and survey data.
Evidence: 60 studies were included (Fig 1): North America (NA) 38%, United Kingdom (UK)/Europe (EU) 37%, Australia/New Zealand (ANZ) 17%, and Asia 8%. Publications clustered across 7 domains: clinic model description and evaluation 25; genomic utility in non-clinical setting 26; methodology or infrastructure 33; health economic 2; implementation process 1; stakeholders experience 7; and ethical, legal, or social implications 1 (Fig 2).
Clinic Models: 4 models emerged: traditional genetic referral 8%; multidisciplinary (Multi-D) integrated 48%; genetic-trained nephrologist-led 36%; and mainstreaming in general nephrology 8%. UK/EU and ANZ were mostly Multi-D 67% and 100% respectively; NA favored nephrologist-led model 54% (Fig 3).
51 respondents completed survey (Fig 4). Compared with the literature, respondents reported more hybrid models involving Multi-D and nephrologist-led, except Asia, where nephrologist-led clinics predominated (Fig 5).
Testing Approaches: Comprehensive whole exome/genome sequencing with virtual panels is common in ANZ 50%, UK/Ireland 55%, and EU 43%, whereas NA used targeted panels more often 55% (Fig 6).
Funding: Largely public in UK/Ireland 92%, ANZ 81%, and EU 57%; in NA, 36% were insurer or out-of-pocket.
Team: ANZ/UK/Ireland/EU are mainly Multi-D; NA nephrologist-counselor-led with less geneticist input; Asia predominantly nephrologist-led with limited genetics support (Fig 7).
Outcomes: Highest diagnostic yield and uptake cluster with EU region, Multi-D/nephrologist-led model, and comprehensive sequencing approach. Results were summarized as (yield %, uptake %) by: (a)Region: ANZ 39%, 69-91%; NA 27-61%, 66-100%; UK/Ireland 42-51%, 97-100%; EU 26-67%, 31-100%. (b)Clinic model: Multi-D 26-67%, 31-100%; Traditional 51%, 85%; Nephrologist-led 27-60%, 74-100%; Mainstreaming 61%, 69%. (c)Testing approach: Comprehensive sequencing 39-67%, 91-92%; Hybrid 26-51%, 31-97%; Targeted panel 27-61%, 66-100%; Targeted panel with reflex whole exome sequencing 27-63%, 85-100% (Fig 8-10).
Evidence is skewed toward high-income settings; Asia, Africa, and South America are markedly underrepresented, underscoring global access inequities. Care models, testing strategies, funding, and team composition are context specific. Comprehensive sequencing offers broader detection and reanalysis benefits. Genetic-trained nephrologist-led clinics achieve yield and uptake comparable to Multi-D models, yet evidence for mainstreaming remains sparse. Patient-reported and implementation outcomes are rarely captured— priority gaps for future research.
