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A guide to gene-disease relationships in nephrology
Zornitza Stark1,2,3, Alicia B Byrne4,5, Matthew G Sampson4,6,7
1ClinGen, Boston, MA, USA. zornitza.stark@vcgs.org.au.
Nature Reviews. Nephrology
|October 24, 2024
Summary
Accurate gene-disease relationship curation is vital for interpreting genomic tests in nephrology. Standardizing terminology and evidence appraisal supports precision medicine for kidney diseases.
Area of Science:
- Genetics
- Nephrology
- Genomic Medicine
Background:
- Next-generation sequencing (NGS) has advanced understanding of genetic kidney diseases.
- Interpreting genomic tests relies on accurate gene-disease relationship curation, which lags behind variant identification.
- Genomic testing interpretation requires rigorous assessment of gene-phenotype links.
Purpose of the Study:
- To highlight the critical need for accurate gene-disease relationship definition in nephrology.
- To propose a framework for critically appraising genetic and experimental evidence for gene-disease links.
- To discuss existing international curation programs and harmonization efforts.
Main Methods:
- Review of current practices in gene-disease relationship curation.
- Discussion of frameworks for evidence appraisal in nephrology.
- Analysis of international gene-disease curation programs and terminology alignment.
Main Results:
- Genomic sequencing has transformed nephrology, but gene-disease relationship curation needs improvement.
- A framework for evidence appraisal is proposed to critically assess genetic and experimental data.
- International efforts and terminology alignment are crucial for robust curation.
Conclusions:
- Accurate gene-disease relationship curation is essential for reliable genomic test interpretation in nephrology.
- Standardized terminology and evidence appraisal are key to advancing precision medicine in kidney diseases.
- Translating genomic sequencing into clinical practice requires robust, evidence-based knowledge curation.
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