Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease.

Autor:	Marasa M; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Ahram DF; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Rehman AU; The New York Genome Center, New York, USA., Mitrotti A; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Abhyankar A; The New York Genome Center, New York, USA., Jain NG; Division of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, USA., Weng PL; Division of Pediatric Nephrology, Department of Pediatrics, UCLA Medical Center and UCLA Medical Center-Santa Monica, Los Angeles, California, USA., Piva SE; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Fernandez HE; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Uy NS; Division of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, USA., Chatterjee D; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Kil BH; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Nestor JG; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Felice V; The New York Genome Center, New York, USA., Robinson D; The New York Genome Center, New York, USA., Whyte D; Pediatric Specialty Center of Good Samaritan Hospital Medical Center, Babylon, New York, USA., Gharavi AG; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Appel GB; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Radhakrishnan J; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Santoriello D; Department of Pathology and Cell Biology, Renal Pathology Division, Columbia University Medical Center, New York, USA., Bomback A; Division of Nephrology, Department of Medicine, Columbia University, New York, USA., Lin F; Division of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, USA., D'Agati VD; Department of Pathology and Cell Biology, Renal Pathology Division, Columbia University Medical Center, New York, USA., Jobanputra V; The New York Genome Center, New York, USA.; Department of Pathology and Cell Biology, Columbia University, New York, USA., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, New York, USA.
Jazyk:	angličtina
Zdroj:	Kidney international reports [Kidney Int Rep] 2023 May 26; Vol. 8 (8), pp. 1638-1647. Date of Electronic Publication: 2023 May 26 (Print Publication: 2023).
DOI:	10.1016/j.ekir.2023.05.021
Abstrakt:	Introduction: The diagnosis and management of proteinuric kidney diseases such as focal segmental glomerulosclerosis (FSGS) are challenging. Genetics holds the promise to improve clinical decision making for these diseases; however, it is often performed too late to enable timely clinical action and it is not implemented within routine outpatient nephrology visits. Methods: We sought to test the implementation and feasibility of clinical rapid genome sequencing (GS) in guiding decision making in patients with proteinuric kidney disease in real-time and embedded in the outpatient nephrology setting. Results: We enrolled 10 children or young adults with biopsy-proven FSGS (9 cases) or minimal change disease (1 case). The mean age at enrollment was 16.2 years (range 2-30). The workflow did not require referral to external genetics clinics but was conducted entirely during the nephrology standard-of-care appointments. The total turn-around-time from enrollment to return-of-results and clinical decision averaged 21.8 days (12.4 for GS), which is well within a time frame that allows clinically relevant treatment decisions. A monogenic or APOL1-related form of kidney disease was diagnosed in 5 of 10 patients. The genetic findings resulted in a rectified diagnosis in 6 patients. Both positive and negative GS findings determined a change in pharmacological treatment. In 3 patients, the results were instrumental for transplant evaluation, donor selection, and the immunosuppressive treatment. All patients and families received genetic counseling. Conclusion: Clinical GS is feasible and can be implemented in real-time in the outpatient care to help guiding clinical management. Additional studies are needed to confirm the cost-effectiveness and broader utility of clinical GS across the phenotypic and demographic spectrum of kidney diseases. (© 2023 International Society of Nephrology. Published by Elsevier Inc.)
Databáze:	MEDLINE
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