2012 SOGC: Genetic Considerations for a Woman’s Annual Gynaecological Examination

Genetic Considerations for a Woman’sAnnual Gynaecological Examination

Abstract

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.


Recommendations
The levels of evidence are not adequate for evidence-based
recommendations to be made.

Key Words: Genetic risk, genetic mutation, gynaecology,
inheritance, family history, uterus, ovary, endometrial, vagina,
colon, gastric, renal, breast, cardiac, thrombophilia, diabetes,
epilepsy, uterine leiomyomata uteri, uterine leiomyomas

Table 4. Estimated number and lifetime risk of women
who would develop or die of various types of cancer
in 2007 (incidence rates/death rates)


"Despite these risks, a recent publication23 reported that a
financially stable and well-educated population of women
had very little knowledge or understanding of hereditary
cancer risks. Cancers studied in this population included
hereditary breast cancer, Lynch syndrome, and p16-related
melanoma. Although approximately 11% were identified
as being at high-risk for at least 1 of the 3 syndromes
(breast cancer 88.5%, Lynch syndrome 6.1%, p16-related
melanoma 3.8%), < 3% had ever had genetic counselling
or testing."

Table 6 summarizes the primary and preventive care
periodic assessments by female age groups.48