The National Cancer Institute estimates that in 2009 more than 20,000 American women were diagnosed with, and over 14,000 women died from, ovarian cancer. Because of the difficulty in detecting ovarian cancer, this disease is known as a "silent killer." Mutations in several genes, including the breast cancer-associated BRCA1 and BRCA2, have been linked to increased rates of ovarian cancer. Although there are genetic tests for these mutations available, there are many reasons why people may choose not to test for their genetic predisposition to ovarian cancer.
Incomplete Genetic Test
While mutations in BRCA1 or BRCA2 have been associated with an increase in the rate of ovarian cancer, it is believed that there are other as yet unidentified genes that are also responsible. Available tests are therefore not comprehensive for all the genes involved and so will not be useful for all families with multiple affected individuals that are believed to have inherited a genetic predisposition.
Inconclusive Results of Testing
Occasionally the genetic tests for mutations in BRCA1 or BRCA2 are questionable, meaning that the genetic predisposition of a particular individual is unclear. The presence of a mutation in either of these two genes only indicates an increased probability of developing ovarian cancer rather than a guarantee that the disease will occur. This uncertainty may lead to stress and anxiety.
Discrimination
Although the Genetic Information Nondiscrimination Act was passed in 2008, individuals may still be concerned that a known inherited increased risk of ovarian cancer may target them for discrimination in their place of work or health care provider.
Questionable Effectiveness Of Screening Measures
Ovarian cancer is most effectively treated when it is caught at an early stage. Individuals with known mutations in BRCA1 or BRCA2 may choose to have more frequent or more involved screening procedures, such as trans-vaginal ultrasounds, pelvic exams or a blood test for an increase in a particular cancer marker protein called CA-125. However, research from Dr. M.A. Rookus in the Netherlands that was published in the British Journal of Cancer in 2007 showed that the recommendation to increase screening to known carriers of mutations in BRCA1 or BRCA2 did not increase the early stage discovery of ovarian cancers in these individuals and so was not effective.
Altered Lifestyle
Testing positive for the presence of a mutation that predisposes a person to ovarian cancer can cause depression and anxiety. Individuals may feel guilty for passing on an inherited mutation to other family members. Affected persons may choose to not have children so that the mutation is not passed any further. Indeed, several prophylactic options that decrease the incidence of ovarian cancer include using birth control pills, the removal of the ovaries or uterus, or having a child. These options have serious ramifications on life choices that the affected individual will make.
References
- National Cancer Institute: Ovarian Cancer
- The Centers for Disease Control and Prevention: Ovarian Cancer
- BreastCancer.Org: Seeking Your Genetic Information: Pros and Cons
- National Cancer Institute: Genetic Testing for Cancer: Pros and Cons
- British Journal of Cancer: No Efficacy of Annual Gynaecological Screening in BRCA1/2 Mutation Carriers; An Observational Follow-up Study
