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Exome-First Strategy in Adult Patients With CKD: A Cohort Study
Alice Doreille1,2, Yannis Lombardi1,2, Marine Dancer3
1Soins Intensifs Néphrologiques et Rein Aigu, hôpital Tenon, Assistance Publique - Hôpitaux de Paris, Paris, France.
Kidney International Reports
|March 20, 2023
Summary
Exome sequencing (ES) is a valuable tool for diagnosing genetic kidney diseases in adults, with a 24% diagnostic yield. A new clinical score aids in predicting molecular diagnosis probability for improved nephrogenomics implementation.
Area of Science:
- Nephrology
- Genetics
- Genomics
Background:
- Exome sequencing (ES) has advanced nephrogenomics in adult nephrology.
- Diagnosing genetic kidney diseases in adults can be challenging due to atypical presentations.
Purpose of the Study:
- To determine the diagnostic yield of ES in adult patients with kidney diseases of unknown origin.
- To assess the clinical implications of molecular diagnoses from ES.
- To develop a clinical score for predicting the likelihood of a positive ES result.
Main Methods:
- Prospective use of ES as a first-tier investigation for adult nephropathies since September 2018.
- Analysis of copy number variants using the same ES assay.
- Development of a 4-value clinical score to predict molecular diagnosis probability.
Main Results:
- A diagnostic yield of 24% (127/538 patients) was achieved, identifying 47 distinct monogenic disorders.
- Eight specific monogenic disorders accounted for 52% of all genetic diagnoses.
- Molecular diagnoses had major clinical implications in 98% of diagnosed patients.
- The developed clinical score showed an AUC of 0.726 for predicting molecular diagnosis.
Conclusions:
- ES is a crucial first-tier diagnostic tool for adult chronic kidney disease patients, especially with atypical phenotypes.
- The developed clinical score shows promise for implementing adult nephrogenomics, pending external validation.
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