title: Translating research discoveries into clinical tests.
abstract: 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.
authors.affiliation: Brigham & Women's Hospital and Harvard Medical School, Boston, MA, USA. hlrehm@partners.org
authors.forename: Heidi L
authors.initials: HL
authors.lastname: Rehm
mesh_terms: D018588:Fee-for-Service Plans; D005820:Genetic Testing / Q000191:economics / Q000379:methods / Q000592:standards*; D006801:Humans; D018973:Intellectual Property; D007674:Kidney Diseases / Q000175:diagnosis* / Q000235:genetics*; D057170:Translational Research, Biomedical; D054928:Validation Studies as Topic