Scoping Review of Global Kidney Genetics Clinic Models and Outcomes

Ru Sin Lim; Trudie Harris; Julia Jefferis; Sadia Jahan; Regina Shaoying Lim; Louisa M. D’Arrietta; Kar Hui Ng; Hui-Lin Chin; Liuh Ling Goh; Sanchalika Acharyya; Edwin Chan Shih-Yen; Chirag Patel; Erik Biros; Nick Sevdalis; Andrew J. Mallett; John Andrew Sayer; Richard Sandford; Jenny Patterson; Elizabeth Watson; Joanna Jarvis; Helen M. Stuart; Anjali Menon; Daniel P. Gale; Melanie M.Y. Chan; Asheeta Gupta; Peter J. Conlon; Aron Chakera; Kathy Nicholls; Randall James Faull; John Whitlam; Michel Tchan; Hugh J. McCarthy; Parthasarathy Shanmugasundaram; Catherine Quinlan; Zornitza Stark; Ella Wilkins; Jessica Ryan; Kushani Jayasinghe; Amali Mallawaarachchi; Nicholas Cross; Ian Hayes; Whitney Besse; Xiangling Wang; Jordan G. Nestor; Amar J. Majmundar; Marie C. Hogan; Christie P. Thomas; Michael Brendan Shannon; Ana C. Onuchic-Whitford; Andrew L. Lundquist; Dervla M. Connaughton; Moumita Barua; Roser Torra; Isabel Galán Carrillo; Sandrine Lemoine; Laurent Mesnard; Albertien M. van Eerde; Jan Halbritter; Asaf Vivante; Janewit Wongboonsin; Becky Mingyao Ma

doi:10.1016/j.ekir.2026.106589

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Scoping Review of Global Kidney Genetics Clinic Models and Outcomes

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Peer reviewed

Scoping Review of Global Kidney Genetics Clinic Models and Outcomes

Ru Sin Lim, Trudie Harris, Julia Jefferis, Sadia Jahan, Regina Shaoying Lim, Louisa M. D’Arrietta, Kar Hui Ng, Hui-Lin Chin, Liuh Ling Goh, Sanchalika Acharyya, …

Kidney international reports, Vol.11(8), 106589

08/2026

DOI: 10.1016/j.ekir.2026.106589

PMID: 42381763

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Abstract

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.

Details

Title: Subtitle: Scoping Review of Global Kidney Genetics Clinic Models and Outcomes
Creators: Ru Sin Lim - Tan Tock Seng Hospital
Trudie Harris - Townsville Hospital
Julia Jefferis - Mater Health Services
Sadia Jahan - Royal Adelaide Hospital
Regina Shaoying Lim - Tan Tock Seng Hospital
Louisa M. D’Arrietta - Townsville Hospital
Kar Hui Ng - National University of Singapore
Hui-Lin Chin
Liuh Ling Goh - Tan Tock Seng Hospital
Sanchalika Acharyya - Tan Tock Seng Hospital
Edwin Chan Shih-Yen
Chirag Patel - The University of Queensland
Erik Biros - Townsville Hospital
Nick Sevdalis - National University of Singapore
Andrew J. Mallett - The University of Queensland
John Andrew Sayer
Richard Sandford
Jenny Patterson
Elizabeth Watson
Joanna Jarvis
Helen M. Stuart
Anjali Menon
Daniel P. Gale
Melanie M.Y. Chan
Asheeta Gupta
Peter J. Conlon
Aron Chakera
Kathy Nicholls
Randall James Faull
John Whitlam
Michel Tchan
Hugh J. McCarthy
Parthasarathy Shanmugasundaram
Catherine Quinlan
Zornitza Stark
Ella Wilkins
Jessica Ryan
Kushani Jayasinghe
Amali Mallawaarachchi
Nicholas Cross
Ian Hayes
Whitney Besse
Xiangling Wang
Jordan G. Nestor
Amar J. Majmundar
Marie C. Hogan
Christie P. Thomas
Michael Brendan Shannon
Ana C. Onuchic-Whitford
Andrew L. Lundquist
Dervla M. Connaughton
Moumita Barua
Roser Torra
Isabel Galán Carrillo
Sandrine Lemoine
Laurent Mesnard
Albertien M. van Eerde
Jan Halbritter
Asaf Vivante
Janewit Wongboonsin
Becky Mingyao Ma
Resource Type: Journal article
Publication Details: Kidney international reports, Vol.11(8), 106589
DOI: 10.1016/j.ekir.2026.106589
PMID: 42381763
ISSN: 2468-0249
eISSN: 2468-0249
Publisher: Elsevier
Language: English
Electronic publication date: 05/2026
Date published: 08/2026
Academic Unit: Stead Family Department of Pediatrics; Obstetrics and Gynecology; Nephrology; Internal Medicine
Record Identifier: 9985164603702771

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