Translating research discoveries into clinical tests.
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.
Rehm
Heidi L
HL
Brigham & Women's Hospital and Harvard Medical School, Boston, MA, USA. hlrehm@partners.org
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