Abstract: FR-PO628
Diagnostic Utility and Clinical Impact of Genomic Testing in Adolescent and Adult Kidney Disease Patients with Suspected Monogenic Etiology by Establishing an Integrated Kidney Genetics Service
Session Information
- Genetic Diseases: Tubulopathies
November 03, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Alexander, Suceena, Christian Medical College Vellore, Vellore, Tamil Nadu, India
- Varughese, Santosh, Christian Medical College Vellore, Vellore, Tamil Nadu, India
- Mani, Selvin Sundar Raj, Christian Medical College Vellore, Vellore, Tamil Nadu, India
Group or Team Name
- GRACE-KGS.
Background
Though studies have shown positive impact of genomic testing in pediatric population, the diagnostic utility and the clinical impact in real world situations faced by nephrologists when managing adolescent and adult patients with suspected monogenic kidney disease is not known.
Methods
It is a prospective observational pragmatic cohort study. Consecutive patients satisfying the inclusion and exclusion criteria was recruited after written informed consent and pre-test genetic counselling. Genetic testing was by exome sequencing and results returned with post- test genetic counselling. The whole exome sequencing was done for all probands and the bio-informatics was performed using in-house and commercial (VarSeq, Golden Helix) pipeline to identify diagnostic variants for patients’ renal disease by data scientist and nephrologist trained in genetics. Segregation testing was done on parents of probands to confirm inheritance pattern if required. The diagnostic utility and the clinical impact was assessed at 3 months of patient follow-up following detailed phenotype-genotype correlations.
Results
More than 100 patients were prospectively recruited for this study. Diagnostic utility was 60% and covered the whole spectrum of renal diseases. Phenotypic enrichment prior to recruitment is essential for optimum test usage. There was definite clinical impact and cascade testing could be offered to family members. Cost was significantly decreased with in-house bioinformatics pipeline.
Conclusion
In-house generation of database and bio-informatics performed together nephrologist in the team, helps to correlate the phenotype and genotype tightly and identify disease causing variants by ACMG criteria.
Funding
- Government Support – Non-U.S.