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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic Testing in Nephrology: Policy, Health Economics, and Implications for Clinical Practice
Asheeta Gupta1, Gráinne Butler2, Catherine Quinlan3
1Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Kidney Regeneration, Murdoch Research Institute, Melbourne, Australia.
Advances in Kidney Disease and Health
|June 22, 2026
Summary
Integrating genetic testing into nephrology improves diagnosis and lowers costs. Early genomic sequencing in Australia can reduce healthcare spending and enhance patient outcomes, guiding better health policies.
Area of Science:
- Nephrology
- Genomic Medicine
- Health Economics
Background:
- Chronic kidney disease (CKD) in Australia incurs significant healthcare costs (AUD 1.6 billion annually for early-stage CKD).
- There is a need for cost-effective diagnostic and preventive strategies in nephrology.
- Genomic testing offers potential for improved diagnostic precision and management.
Purpose of the Study:
- To explore the cost-effectiveness of integrating genetic testing into nephrology.
- To demonstrate how policy-informed study design can guide evidence-based policymaking.
- To highlight the benefits of genomic sequencing for diagnosis, treatment, and patient outcomes.
Main Methods:
- Review of real-world and modeled cost analyses of genomic sequencing in nephrology.
- Examination of diagnostic yield and impact on healthcare expenditure.
- Analysis of implementation challenges and enablers for genomic testing.
Main Results:
- Early genomic sequencing reduces healthcare expenditure and improves diagnostic yield, especially for glomerular diseases.
- Genomic testing accelerates diagnosis, avoids invasive procedures, and informs treatment and reproductive decisions.
- Substantial long-term cost savings and improved patient outcomes are achievable.
Conclusions:
- Integrating genetic testing into nephrology is cost-effective and improves patient care.
- Tailoring study designs to policy priorities and engaging stakeholders are crucial for implementation.
- Addressing challenges like funding and genomic literacy, while leveraging enablers, can facilitate wider adoption.
Keywords:
Chronic kidney diseaseCost-benefit analysisGenomic medicineHealth economicsPolicy developmentMore Related Videos
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