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Abstract: TH-PO741

Clinical Utility of Secondary Genetic Findings in CKD

Session Information

Category: Genetic Diseases of the Kidney

  • 1002 Genetic Diseases of the Kidney: Non-Cystic


  • Groopman, Emily, Columbia University, New York, New York, United States
  • Marasa, Maddalena, Columbia University, New York, New York, United States
  • Sanna-Cherchi, Simone, Columbia University, New York, New York, United States
  • Kiryluk, Krzysztof, Columbia University, New York, New York, United States
  • Gharavi, Ali G., Columbia University, New York, New York, United States

Whole-exome sequencing (WES) is increasing utilized in nephrology. In addition to providing a specific etiology for nephropathy, genome-wide testing can detect other variants of potential clinical relevance. However, neither the prevalence of such secondary findings among patients with kidney disease nor their clinical implications, including for nephrologic care, has been assessed.


2,187 patients with all-cause chronic kidney disease (CKD) underwent WES at the Columbia Institute of Genomic Medicine. 87% were adults (aged >21y) and 49% self-identified as non-European. We analyzed WES data for variants diagnostic for 850 medically actionable monogenic diseases, using American College of Medical Genetics clinical sequence interpretation criteria. The clinical implications of secondary genetic diagnoses were assessed via their capacity to initiate extra-nephrologic subspecialty referrals and to inform key aspects of nephrologic management, such as dialysis care and choice of therapy.


149 (7%) patients had a secondary genetic diagnosis. Yield did not differ significantly between pediatric and adult cases (OR=0.70 [0.37, 1.23], P=0.25) nor between self-identified Europeans and non-Europeans (OR=0.83 [0.59, 1.18], P=0.31). The secondary genetic diagnoses spanned 78 medically actionable monogenic disorders and would initiate extra-nephrologic referral involving 19 different specialties. Moreover, in 76 (51%) of the 149 cases, the disorders found could be mistaken as secondary CKD comorbidities and would require disease-specific treatment. Strikingly, in each case, the secondary genetic diagnosis had meaningful implications for nephrologic care. For example, the inherited cancers found in 79 patients would inform type and dose of immunosuppression for renal transplantation, and, in the 45 with glomerulopathy, therapy for their primary renal disease as well. Similarly, the hereditary cardiac conditions noted in 40 patients would impact dialysis and/or choice of anti-hypertensive agent.


WES of a large all-cause CKD cohort yielded secondary genetic diagnoses in 7%, with meaningful implications for nephrologic care. Our findings reveal a novel utility of genome-wide testing in nephrology and the associated need for multidisciplinary management.


  • NIDDK Support