Phenotyping Clinical Disorders: Lessons Learned From Pelvic Organ Prolapse

Genetic epidemiology, the study of genetic contributions to risk for disease, is an innovative area in medicine. While research in this arena has advanced in other disciplines, few genetic epidemiologic studies have been conducted in obstetrics and gynecology. It is crucial that we study the genetic susceptibility for issues in women’s health, as this information will shape the new frontier of “personalized medicine.” To date, preterm birth may be one of the best examples of genetic susceptibility in obstetrics and gynecology, but many areas are being evaluated including endometriosis, fibroids, polycystic ovarian syndrome and pelvic floor disorders. An essential component to genetic epidemiologic studies is to characterize, or “phenotype,” the disorder in order to identify genetic effects. Given the growing importance of genomics and genetic epidemiology, we discuss the importance of accurate phenotyping of clinical disorders and highlight critical considerations and opportunities in phenotyping, using pelvic organ prolapse as a clinical example.