Ovarian cancer is the fifth most common cancer in women, as well as the most common cause of gynecologic cancer death. The lack of screening tools means that by the time a diagnosis is handed down, the cancer could already have advanced to stage III or IV. A routine pelvic exam would not detect ovarian cancer unless an abnormality was clearly present.
Though oral contraceptives are thought to reduce the risk of developing ovarian cancer by about 50 percent, genetic testing has quickly risen as a formidable avenue toward early cancer detection.
Doctors strongly recommend genetic testing if you meet one or more of the following criteria:
- A personal or family history of ovarian cancer
- A personal history of breast cancer before age 50
- A personal or family history of male breast cancer
- A known BRCA1 or BRCA2 genetic mutation or identified Lynch Syndrome in the family
- Ashkenazi Jewish heritage
- A personal history of colorectal or uterine cancer before age 50
- A family history of breast cancer at age 45 or younger
The BRCA Breakdown
BRCA1 and BRCA2 are tumor suppressor genes. BRCA1 in particular is involved in damaged DNA repair. A BRCA mutation is a mutation in either of the BRCA1 or BRCA2 genes, which occurs rapid and unregulated cell division. Women with either of these mutations have up to a 60 percent increased risk of ovarian cancer and up to a 90 percent increased risk of breast cancer.
To read that 1 in 4 women with ovarian cancer have a hereditary mutation is a fairly alarming statistic. Overall, around 15 percent of ovarian cancer cases are linked to BRCA, which equates to more than 1,000 women a year. Approximately 250,000 people across the U.S. might have the BRCA mutation, and only six percent of them have been tested.
If genetic testing produces positive results for a BRCA mutation, the patient may opt to have her ovaries removed in a “prophylactic oophorectomy,” recommended to high-risk women who’ve decided to not have any more children. A positive test result may also point to a higher risk of breast cancer.
The Process of Genetic Testing
According to John Hopkins Medicine, “There are at least 125 potentially cancer-causing mutations on BRCA1 alone.” This makes the process of genetic testing is extensive and costly, but necessary, if you and your physician agree it is the best way to proceed.
The steps involved include:
- Risk assessment: An in-depth review of your family history and medical history will take place, as your doctor looks for any familial disease patterns.
- Genetic counseling: The counselor will explain how families inherit cancers, as well as the pros and cons, cost, and limits of testing.
- Informed consent: Should you decide to proceed with genetic testing, informed and written consent will be required.
- Specimen collection: Blood samples, hair and cheek cells (from swabbing the inside of your mouth), urine, amniotic fluid, or other body tissues are collected and sent to a lab for testing.
- Receiving results: After several weeks or months of submitting your samples, test results will be given and discussed in a counseling session.
Genetic Testing At Home
The cost of genetic testing can run upwards of $3,000 and, unfortunately, may not be covered by insurance. Health services company Color saw a demand for an affordable home BRCA genetic testing service from those who do not have insurance or narrowly missed the criteria for genetic testing.
Color’s home BRCA tests are ordered by a licensed physician after consulting about your options. Once the kit is mailed to you or your doctor’s office, you submit a saliva sample, which is sent to and tested in Color’s lab. Three to four weeks later, you receive results and the option for genetic counseling by phone.
Founder and president of Color, Othman Laraki told Forbes magazine that “Testing everyone for risk will result in better treatment for those who do get cancer, whether or not they carry a genetic risk factor. Ultimately, genetic screening will cut down on overdiagnosis issues, not exacerbate them.”