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Gene-Disease Relationships in Kidney Genetics
Vanessa Gitau1, Julie Ratliff1, Ryan Webb1
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Seminars in Nephrology
|July 16, 2025
Summary
Gene curation is crucial for identifying genetic disease causes using genomic sequencing. The Clinical Genome Resource (ClinGen) provides expert-reviewed gene-disease evidence to aid nephrologists in clinical decision-making.
Area of Science:
- Genomics
- Clinical Genetics
- Nephrology
Background:
- Genomic sequencing is vital for diagnosing genetic diseases.
- Gene curation determines the inclusion and prioritization of genes in diagnostic panels and variant classification.
- Evaluating gene-disease relationships requires robust genetic and experimental evidence.
Purpose of the Study:
- To review the Clinical Genome Resource's (ClinGen) gene curation framework and its application in nephrology.
- To highlight the importance of gene curation for clinical validity assessment in kidney diseases.
- To empower nephrologists with knowledge of gene curation principles for patient care.
Main Methods:
- Utilizing the semiquantitative framework developed by ClinGen for gene curation.
- Employing a multidisciplinary approach within ClinGen Gene Curation Expert Panels (GCEPs).
- Reviewing published gene curations accessible via the ClinGen website.
Main Results:
- ClinGen's framework and GCEPs provide expert-informed gene curations for various kidney diseases.
- These curations establish clinical validity of gene-disease relationships.
- Published resources are available to assist nephrologists.
Conclusions:
- ClinGen's gene curation resources are essential for validating genetic findings in nephrology.
- Understanding gene curation principles enables informed clinical decision-making.
- Expert-curated genetic information improves the relevance of genomic sequencing in patient care.
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