Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective

被引：0
作者：
Gupta, Asheeta [1 ,2 ,3 ,4 ,13 ]
Jayasinghe, Kushani [3 ,5 ,6 ,7 ]
Majmundar, Amar [8 ,9 ]
Mann, Nina [8 ,9 ]
Sinha, Rajiv [10 ]
Sampson, Matthew G. [8 ,9 ,11 ]
Quinlan, Catherine [2 ,3 ,12 ]
机构：
[1] Birmingham Womens & Childrens NHS Fdn Trust, Birmingham Childrens Hosp, Birmingham, England
[2] Royal Childrens Hosp, Dept Nephrol, Melbourne, Australia
[3] Murdoch Res Inst, Kidney Regenerat, Melbourne, Australia
[4] Univ Bristol, Bristol, England
[5] Monash Med Ctr, Dept Nephrol, Melbourne, Australia
[6] Monash Univ, Melbourne, Australia
[7] Melbourne Hlth, Melbourne, Australia
[8] Boston Childrens Hosp, Div Pediat Nephrol, Boston, MA 02115 USA
[9] Harvard Med Sch, Boston, MA USA
[10] Inst Child Hlth, Kolkata, India
[11] Brigham & Womens Hosp Kidney Dis Initiat, Broad Inst, Cambridge, MA USA
[12] Univ Melbourne, Sch Med, Dept Pediat, Melbourne, Australia
[13] Great Ormond St Hosp Children NHS Fdn Trust, Dept Pediat Nephrol, London, England
来源：
PEDIATRIC NEPHROLOGY | 2025年
关键词：
Kidney; Genetics; Genomics; Clinic; Mainstreaming; Education; Equity; KIDNEY-DISEASE; HEALTH-CARE; IMPLEMENTATION; DIAGNOSIS; ATTITUDES; PATIENT; BREAST; WOMEN;
D O I：
10.1007/s00467-025-06711-7
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Kidney genetic services are being created worldwide, revolutionising the way in which we manage families with suspected monogenic kidney disease. There is potential to learn from one another, whether one is just embarking on this journey or within an established kidney genetics service model with aspirations to optimise it further. This concluding portion of our two-part educational review explores the global efforts to integrate genomics into nephrology. We discuss key considerations for establishing kidney genetics services and share insights from successful implementation in Australia, India, the United Kingdom (UK) and the United States (US), through case studies. Widespread integration of genomics within nephrology still faces barriers including limited genomics education among clinicians, high costs and ethical concerns. Educational strategies including workshop-based, online resources and clinical decision tools are aiming to address the genomic literacy gap among nephrologists. Multidisciplinary kidney genetics clinic models comprising nephrologists, geneticists, clinical scientists and counsellors are proving to be an effective model of delivering this diagnostic tool. Data of how kidney genetics clinics can foster collaboration with registries to facilitate research and shared learning to optimise care for patients are becoming evident. We also explore the importance of equitable access to genomics services across diverse populations, advocating for policies that address disparities in access to healthcare and genetic data representation. We hope to highlight the importance of upskilling the nephrology workforce to fully leverage the advances in genomic medicine and ensure comprehensive, accessible and personalised care for patients with genetic kidney diseases.Graphical abstractA higher resolution version of the Graphical abstract is available as Supplementary information
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页数：15
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