Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease.
feasibility
focal segmental glomerulosclerosis
genetic diagnosis
genome sequencing
implementation
proteinuria
Journal
Kidney international reports
ISSN: 2468-0249
Titre abrégé: Kidney Int Rep
Pays: United States
ID NLM: 101684752
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
received:
19
03
2023
revised:
01
05
2023
accepted:
22
05
2023
medline:
7
8
2023
pubmed:
7
8
2023
entrez:
7
8
2023
Statut:
epublish
Résumé
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. 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. 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. 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.
Identifiants
pubmed: 37547535
doi: 10.1016/j.ekir.2023.05.021
pii: S2468-0249(23)01316-5
pmc: PMC10403677
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1638-1647Subventions
Organisme : NCATS NIH HHS
ID : KL2 TR001874
Pays : United States
Informations de copyright
© 2023 International Society of Nephrology. Published by Elsevier Inc.
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