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Genomics Integration Into Nephrology Practice.

Filippo Pinto E Vairo1,2,3, Carri Prochnow1,2, Jennifer L Kemppainen1

  • 1Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.

Kidney Medicine
|November 8, 2021
PubMed
Summary
This summary is machine-generated.

Genomic testing and multidisciplinary review diagnosed the cause of kidney disease in one-third of families with unexplained chronic kidney disease (CKD). This improved prognostic understanding and guided patient management.

Keywords:
Genomicsindividualized medicinenephrology

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Area of Science:

  • Nephrology
  • Genomics
  • Medical Diagnostics

Background:

  • The etiology of chronic kidney disease (CKD) is often unknown.
  • Integrating genomic and clinical data is crucial for diagnosing unexplained CKD.

Purpose of the Study:

  • To establish the Mayo Clinic Nephrology Genomics Clinic for identifying the causes of unexplained CKD.
  • To improve the integration of genomic and clinical data for etiological diagnosis.

Main Methods:

  • A retrospective study design was employed.
  • A multidisciplinary Nephrology Genomics Board reviewed 163 cases.
  • Genomic testing included targeted panels, single gene analysis, and exome sequencing.

Main Results:

  • A definitive genetic diagnosis was achieved in 30.7% of families.
  • Diagnostic yield varied by disease category, with tubulointerstitial diseases showing the highest rate (53.3%).
  • Further investigation is ongoing for unresolved cases.

Conclusions:

  • Multidisciplinary evaluation and integrated genomic testing diagnosed a third of families with CKD of unknown etiology.
  • These diagnoses carried prognostic implications and often led to changes in patient management.
  • Potential overestimation of the diagnostic rate due to variant classification was noted.