A Computable Phenotype for Autosomal Dominant Polycystic Kidney Disease Journal Articles uri icon

  •  
  • Overview
  •  
  • Research
  •  
  • Identity
  •  
  • Additional Document Info
  •  
  • View All
  •  

abstract

  • Key Points The ADPKD computable phenotype on the basis of ICD-9/10 is an excellent screening tool to identify patients with ADPKD.Patients who were followed in nephrology clinics had a higher sensitivity, specificity, and positive and negative predictive values.Specificity of the ADPKD computable phenotype is comparable with other medical conditions. Background A computable phenotype is an algorithm used to identify a group of patients within an electronic medical record system. Developing a computable phenotype that can accurately identify patients with autosomal dominant polycystic kidney disease (ADPKD) will assist researchers in defining patients eligible to participate in clinical trials and other studies. Our objective was to assess the accuracy of a computable phenotype using International Classification of Diseases 9th and 10th revision (ICD-9/10) codes to identify patients with ADPKD. Methods We reviewed four random samples of approximately 250 patients on the basis of ICD-9/10 codes from the EHR from the Kansas University Medical Center database: patients followed in nephrology clinics who had ICD-9/10 codes for ADPKD (Neph+), patients seen in nephrology clinics without ICD codes for ADPKD (Neph−), patients who were not followed in nephrology clinics with ICD codes for ADPKD (No Neph+), and patients not seen in nephrology clinics without ICD codes for ADPKD (No Neph−). We reviewed the charts and determined ADPKD status on the basis of internationally accepted diagnostic criteria for ADPKD. Results The computable phenotype to identify patients with ADPKD who attended nephrology clinics has a sensitivity of 99% (95% confidence interval [95% CI], 96.4 to 99.7) and a specificity of 84% (95% CI, 79.5 to 88.1). For those who did not attend nephrology clinics, the sensitivity was 97% (95% CI, 93.3 to 99.0), and a specificity was 82% (95% CI, 77.4 to 86.1). Conclusion A computable phenotype using the ICD-9/10 codes can correctly identify most patients with ADPKD, and can be utilized by researchers to screen health care records for cohorts of patients with ADPKD with acceptable accuracy.

authors

  • Kalot, Mohamad A
  • El Alayli, Abdallah
  • Al Khatib, Mohammad
  • Husainat, Nedaa
  • McGreal, Kerri
  • Jalal, Diana I
  • Yu, Alan SL
  • Mustafa, Reem Adel

publication date

  • November 2021