Abstract: PO1666
Clinomics Implementation in the Mayo Clinic Nephrology Practice
Session Information
- Genetic Diseases of the Kidneys: Non-Cystic - 2
October 22, 2020 | Location: On-Demand
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1002 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Hogan, Marie C., Mayo Clinic MN Div of Neph & HTN, Rochester, Minnesota, United States
- Vairo, Filippo, Mayo Clinic Ctr for Individualized Medicine, Rochester, Minnesota, United States
- Lieske, John C., Mayo Clinic MN Div of Neph & HTN, Rochester, Minnesota, United States
- Fervenza, Fernando C., Mayo Clinic MN Div of Neph & HTN, Rochester, Minnesota, United States
- Erickson, Stephen B., Mayo Clinic MN Div of Neph & HTN, Rochester, Minnesota, United States
- El Ters, Mireille, Mayo Clinic MN Div of Neph & HTN, Rochester, Minnesota, United States
- Baudhuin, Linnea, Mayo Clinic Personalized Genomics Laboratory, Rochester, Minnesota, United States
- Moyer, Ann M., Mayo Clinic Personalized Genomics Laboratory, Rochester, Minnesota, United States
- Lisi, Emily C., Wake Forest University, Winston-Salem, North Carolina, United States
- Kemppainen, Jennifer L., Mayo Clinic Dpt of Clinical Genomics, Rochester, Minnesota, United States
- Prochnow, Carri, Mayo Clinic Ctr for Individualized Medicine, Rochester, Minnesota, United States
- Lazaridis, Konstantinos N., Mayo Clinic Ctr for Individualized Medicine, Rochester, Minnesota, United States
- Albadri, Sam, Mayo Clinic Dpt of Renal Pathology, Rochester, Minnesota, United States
- Cornell, Lynn D., Mayo Clinic Dpt of Renal Pathology, Rochester, Minnesota, United States
- Harris, Peter C., Mayo Clinic Dpt of Neph & HTN Research, Rochester, Minnesota, United States
Background
Next generation sequencing has been increasingly used to diagnose monogenic kidney diseases. In 2018, we launched the Nephrology Genetics Clinic (NGC) with a primary focus to identify the etiology of unexplained nephrotic syndrome, chronic kidney disease, or stone disease/nephrocalcinosis. An essential component of the NGC is the Genomic Odyssey Board (GOB) which consists of nephrologists, geneticists, genetic counselors, pathologists, translational ‘omics scientists, and trainees who meet at least monthly to interpret the genetic findings in the context of the patient’s clinical data. Clinical and research follow-up recommendations are made after this careful multidisciplinary review and discussion.
Methods
In 2018 and 2019, the GOB reviewed 118 cases (9 cystic, 79 glomerular, 4 CAKUT, 10 stones, 7 tubulo-interstitial (TI), and 9 other; Table 1). Genetic testing was performed with a targeted analysis of 344 kidney disease-related genes (with MUC1 variant analysis in subset of TI cases).
Results
A definite genetic diagnosis was achieved for 34 families (29%). After a multidisciplinary evaluation of variants of uncertain significance (VUS), another 16 (13.6%) were deemed to have variants likely related to the phenotype. The highest diagnostic yield was achieved in individuals with TI diseases (50%), followed by cysts (33.3%), glomerular (28.7%), CAKUT (25%), stones (20%), and others (11%). Of the unresolved/partially resolved cases, the GOB decided to pursue research activities such as trio whole exome sequencing or transcriptome sequencing for 22 (31%) families.
Conclusion
Implementation of genomic testing and analysis by a multidisciplinary team in a nephrology cohort with clinically suspected monogenic disease has provided a firm diagnosis in 29% of families, often resulting in changes in management/treatment. Ongoing research screening is likely to increase this yield.
Table 1: Results of Genetic Analysis by Disease Group
Funding
- Private Foundation Support