GENEKIDS-PRO: genomic enhancement and patient engagement in nephrology through multidisciplinary kidney genetics clinic implementation and integration in Singapore – a study protocol using a process evaluation framework

Genetic nephrology has emerged as a distinct subspecialty within nephrology with growing evidence supporting its clinical utility and cost-effectiveness across diagnostic, prognostic, and management pathways. Yet significant implementation gaps such as undefined clinic models and outcomes, limited use of implementation science frameworks, ad hoc strategy development, and a narrow focus on diagnostic yield and clinical utility hinder its routine adoption and integration. This research programme aims to systematically design, implement, and evaluate a multidisciplinary kidney genetics clinic model, using a theory-informed and stakeholder-engaged implementation science approach, to translate genomic advances into improved service, patient-reported, and implementation outcomes, and to inform sustainable and scalable kidney genomics care policy. Using a interconnected four-part, mixed-methods, multi-frameworks design underpinned by implementation science theory, the research programme will (1) review global kidney genetics clinic models, outcomes, determinants of successful implementation, and implementation strategies; (2) assess local stakeholder perceptions, priorities and contextual determinants using Consolidated Framework for Implementation Research (CFIR)-guided qualitative inquiry; (3) co-design and refine tailored implementation strategies via Consolidated Framework for Implementation Research-Expert Recommendations for Implementing Change (CFIR-ERIC) mapping and hybrid participatory methods; and (4) evaluate the clinic’s service, patients, and implementation outcomes in a prospective effectiveness-implementation hybrid type 2 quasi-experimental interrupted time-series study design. Outcomes assessed include (1) service outcomes (diagnostic yield, clinical utility, and timeliness of care); (2) patient-reported outcomes (personal utility, patient-reported outcome measures); and (3) Proctor-defined implementation outcomes (acceptability, appropriateness, readiness, feasibility, and fidelity, and penetration). We will measure outcomes longitudinally across pre-implementation, implementation, and post-implementation phases, and analyse data using segmented regression analysis to assess changes in outcomes over time. The Implementation Research Logic Model (IRLM) will guide evaluation and adaptation throughout. This programme is designed to address critical implementation gaps between genomic evidence and clinical practice. Through four sequential studies, the programme will generate standardised kidney genetics clinic models and care pathways, evidence-informed implementation determinants, and context-tailored, co-designed implementation strategies. Taken together, this programme will establish a policy-relevant genetic nephrology care model with improved service, patient-reported, and implementation outcomes for the benefit of patients and families living with genetic kidney disease.