Phenotyping clinical disorders: lessons learned from pelvic organ prolapse.

Journal Article (Journal Article)

Genetic epidemiology, the study of genetic contributions to risk for disease, is an innovative area in medicine. Although research in this arena has advanced in other disciplines, few genetic epidemiological studies have been conducted in obstetrics and gynecology. It is crucial that we study the genetic susceptibility for issues in women's health because 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 epidemiological studies is to characterize, or phenotype, the disorder 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.

Full Text

Duke Authors

Cited Authors

  • Wu, JM; Ward, RM; Allen-Brady, KL; Edwards, TL; Norton, PA; Hartmann, KE; Hauser, ER; Velez Edwards, DR

Published Date

  • May 2013

Published In

Volume / Issue

  • 208 / 5

Start / End Page

  • 360 - 365

PubMed ID

  • 23200709

Pubmed Central ID

  • PMC3597745

Electronic International Standard Serial Number (EISSN)

  • 1097-6868

Digital Object Identifier (DOI)

  • 10.1016/j.ajog.2012.11.030


  • eng

Conference Location

  • United States