Genetic considerations for a woman's annual gynaecological examination.

OBJECTIVE To provide the physician with an overview of common genetic conditions that should be considered during a women's annual gynaecological assessment to determine the patient's risk or to initiate specific testing or referral to another subspecialty service, depending on personal or family history. OPTIONS This genetic information can be used for patient education and possible disease and/or mutation screening or diagnosis. OUTCOMES The use of this genetic information may allow improved risk-benefit assessment and management at the annual gynaecological examination. EVIDENCE Studies published in English up to and including May 2010 were retrieved through searches of PubMed and the Cochrane Library, using appropriate controlled vocabulary (gynaecological diagnosis, genetic inheritance) and key words (genetic risk, genetic mutation, inheritance, family history, uterus, ovary, endometrial, vagina, colon, gastric, renal, breast, cardiac, thrombophilia, diabetes, epilepsy, leiomyomata uteri). Other literature sources were identified through searching the web sites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. VALUES The levels of evidence are not adequate for evidence-based recommendations to be made. BENEFITS, HARMS, AND COSTS This committee opinion will enhance the use of new genetic knowledge and its application to the annual gynaecological care of women. Risk management and diagnostic opportunities for genetic gynaecological conditions will be improved. A more complete understanding of genetic conditions may increase anxiety and psychological stress for women and their families. SPONSORS Society of Obstetricians and Gynaecologists of Canada. RECOMMENDATIONS The levels of evidence are not adequate for evidence-based recommendations to be made.