Rare Diseases Epidemiology

Volume 686 of the series Advances in Experimental Medicine and Biology pp 115-131


Evaluation of the Validity and Utility of Genetic Testing for Rare Diseases

  • Scott D. GrosseAffiliated withDivision of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention Email author 
  • , Lisa KalmanAffiliated withDivision of Laboratory Sciences and Standards, Centers for Disease Control and Prevention
  • , Muin J. KhouryAffiliated withOffice of Public Health Genomics, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention

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The conventional criteria for evaluating genetic tests include analytic validity, clinical validity, and clinical utility. Analytical validity refers to a test’s ability to measure the genotype of interest accurately and reliably. Clinical validity refers to a test’s ability to detect or predict the clinical disorder or phenotype associated with the genotype. Clinical utility of a test is a measure of its usefulness in the clinic and resulting changes in clinical endpoints. In addition, the utility to individuals and families of genomic information, or personal utility, should be considered. This chapter identifies methodological and data issues involved in assessing each type of validity or utility. The validity and utility of a test must be considered in a specific context, which include diagnostic testing, newborn screening, prenatal carrier screening, and family or cascade screening. Specific rare disorders addressed include cystic fibrosis, fragile X syndrome, Duchenne and Becker muscular dystrophy, spinal muscular atrophy, Huntington disease, as well as cancer associated with BRCA mutations.


Population screening Genetic screening Public health genomics Rare disorders Clinical utility