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Rare Diseases Epidemiology pp 115–131Cite as

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

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 686))

Abstract

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.

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Acknowledgements

We thank Richard Olney and Barbara Zehnbauer for helpful comments on a previous version of this manuscript.

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Authors and Affiliations

  1. Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, 30333, USA

    Scott D. Grosse

  2. Division of Laboratory Sciences and Standards, Centers for Disease Control and Prevention, Atlanta, GA, USA

    Lisa Kalman PhD

  3. Office of Public Health Genomics, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, GA, USA

    Muin J. Khoury MD, PhD

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  1. Scott D. Grosse
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  2. Lisa Kalman PhD
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  3. Muin J. Khoury MD, PhD
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Correspondence to Scott D. Grosse .

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Editors and Affiliations

  1. , Instituto de Investigaciñon en Enfermeda, Instituto de Salud Carlos III, Monforte de Lemos 5, Madrid, 28029, Spain

    Manuel Posada de la Paz

  2. , Office of Rare Diseases Research, National Institutes of Health, Executive Boulevard 6100, Bethesda, 20892-7518, USA

    Stephen C. Groft

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Disclaimer: The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention.

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Grosse, S.D., Kalman, L., Khoury, M.J. (2010). Evaluation of the Validity and Utility of Genetic Testing for Rare Diseases. In: Posada de la Paz, M., Groft, S. (eds) Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, vol 686. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9485-8_8

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