Jefferis, Julia, Mallawaarachchi, Amali, Knoers, Nine, Blasco, Miquel, and Mallett, Andrew J. (2025) Should Genetic Testing be Indicated and Implemented for Chronic Kidney Disease of Unknown Cause? Seminars in Nephrology, 45 (4). 151659.

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Abstract

Advances in genetic testing have attributed many cases of clinically unexplained kidney disease (UKD) to monogenic disorders with such reclarified diagnoses optimizing and individualizing patient care. Patients affected by UKD despite reasonable nephrological workup can benefit from genetic testing because it can reveal etiology, end protracted diagnostic odysseys, inform prognosis, guide management, avoid unnecessary treatments, confer broader implications for family members including transplantation, enable genetic counseling, and guide reproductive care. Recent studies have found diagnostic yield of genetic testing in UKD is between 11% and 32%, even in those without family history of kidney disease, with variants most frequently identified in COL4A3-5. Given the broad spectrum of patients with UKD, considering testing in all patients would ensure such clarifying diagnoses are not missed. However, genetic testing in UKD carries complexity for patients, clinicians and health care systems and thus requires education and support frameworks to overcome these barriers. A patient-centered discussion and shared decision-making around the merits and potential harms in all patients with UKD ensure potential genetic diagnoses are not missed, with a focus on patient autonomy and benefit.

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