Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

Area of Science:

• Nephrology
• Genomics
• Clinical Diagnostics

Background:

• Diagnostic genomic sequencing is becoming standard in nephrology, necessitating national implementation for improved patient outcomes.
• A growing need exists to scale genomic diagnostics to enhance care for patients with kidney diseases.

Purpose of the Study:

• To evaluate the implementation experiences and diagnostic outcomes of genomic diagnostics in Australian kidney genetics clinics (KGCs) from 2013 to 2022.
• To assess the feasibility and success of establishing a national network for genomic testing in nephrology.

Main Methods:

• A pragmatic study involving genomic or genetic testing for patients with suspected monogenic kidney disease.
• Establishment and expansion of a national network of 20 kidney genetics clinics (KGCs) across Australia.
• Assessment of implementation barriers and application of real-time solutions over a 10-year period.

Main Results:

• Successfully established and expanded a nationwide network of 20 KGCs by 2022.
• Provided genomic testing to 1506 kidney patients, with 1322 receiving results.
• Developed laboratory, research, and education programs to support the clinical application of genomics.

Conclusions:

• A national, multidisciplinary kidney genetics model across multiple health services proved highly successful.
• The model facilitated optimal and economically responsible care for individuals with monogenic kidney disease.
• The program is poised for further scaling as genomic testing for kidney patients moves to healthcare system funding.