Table 5.

Recommended Practices for Value-Based Measures of Implementation and Quality Assurance of Clinical Genetics in Nephrology

Measure nephrologist adoption of genetic testing and appropriate referral to genetic testing

Measure nephrologist utilization of genetic results (to determine if appropriate changes in diagnosis and care have occurred)

Define disease-specific outcomes that can be measured Development of kidney failure Rate of kidney disease progression Change in treatment Access to genetically stratified clinical trials Donor risk evaluation, or deceased donor organ evaluation Recipient risk evaluation (e.g., improved matching, customized immunosuppression, etc.) Utilization of information for family planning Patient-reported outcome (quality of life, etc.) Hospitalization, cardiovascular outcomes, mortality Diagnosis of at-risk family members

Define and measure potential harmful impacts of genetic testing (e.g., wrongful impact on change of treatment)

Define audits/assessments for centers that offer genetic testing in nephrology as quality assurance activity

Potentially apply USPSTF and EGAPP methods to analyze the implementation of genetic testing for kidney diseases

USPSTF, United States Preventive Services Task Force; EGAPP, Evaluation of Genomic Applications in Practice and Prevention.