Seminars in Nephrology
Volume 30, Issue 4 , Pages 426-430, July 2010

Translating Research Discoveries Into Clinical Tests

  • Heidi L. Rehm, PhD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Heidi L. Rehm, PhD, Assistant Professor of Pathology, 65 Landsdowne Street, Cambridge, MA 02139

Brigham & Women's Hospital and Harvard Medical School, Boston, MA, and Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Cambridge, MA

Summary 

In the past decade, mutations in many genes have been discovered to underlie the myriad of inherited renal and other genetic diseases. Once these genes are identified as etiologic in a disease, the development of a clinical test becomes possible. However, clinical tests are not yet available for all identified disease genes. Why is that? This article discusses the many factors that influence making such a test available and describe the common challenges that are encountered during translation of a test into clinical use.

Keywords: Genetic tests, clinical testing, CLIA, test validation

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PII: S0270-9295(10)00101-4

doi:10.1016/j.semnephrol.2010.06.009

Seminars in Nephrology
Volume 30, Issue 4 , Pages 426-430, July 2010

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