Genetic Testing FAQs

Genetic testing can be done via a cheek swab, spit sample or a blood draw. This sample is then sent to a lab which screens for a panel of mutations that are associated with increased risk for a variety of cancers. It usually takes a few weeks to get results. Many testing services have genetic counselors on staff who can answer any questions and discuss results and possible next steps.

Anyone – male, female or non-binary – who has a family history of certain inherited cancers, such as breast, ovarian, uterine or colorectal, are encouraged to get genetic testing. It is important to note that genetic mutations can be inherited from both the mother and the father. Therefore, it is possible for a man to have and pass down a genetic mutation that could put his female offspring at risk for ovarian or other gynecologic cancers. In addition, those who have  been diagnosed with ovarian or other gynecologic cancers should have genetic testing as well, because the knowledge of a mutation – whether inherited or in the tumor itself – may impact the type of treatment the medical team will suggest.

Men, and those born male, need to be aware of their family history as well. Not only for their own increased risk of non-gynecologic cancers, but also because they can pass genetic mutations on to their offspring. So a father who has a genetic mutation can pass it on to his daughter, which may put her at increased risk for ovarian or other related cancers, or could pass it to his son which could increase his risk for other related cancers.

The genetic testing that NCCN (National Comprehensive Cancer Network) guidelines recommend looks at a person’s genome and screens for a panel of possible genetic mutations that can lead to an increased risk of ovarian and other cancers. It is not the same type of genetic test used to determine one’s ancestry.

There are many terms you may hear when learning about genetic testing – germline, somatic and genomic. Ultimately, they all fall under the umbrella of genetic testing, but there are slight variations. Germline testing looks at all of the DNA in a person’s body and can reveal an inherited mutation that has been present since birth. This is what the medical community is referring to when encouraging people to get genetic testing to determine if they are at increased risk for ovarian or other related cancers. Somatic testing, on the other hand, is a type of genetic testing that looks for acquired mutations in a specific set of tissue or cells. Unlike inherited mutations that have been present since birth, these acquired mutations may only be present in specific areas of the body and have led to the growth of cancerous cells or a tumor. Doctors will recommend somatic testing on a tumor or tissue when someone has been diagnosed with ovarian or another gynecologic cancer, because it can help them tailor treatment to be most effective. Genomic testing is a more recent term that describes the analysis of someone’s entire DNA – both inherited genes and how those genes interact with each other and the person’s environment.

You can read more about the various types of genetic testing here.

Knowledge is power, and genetic testing is an important way to empower yourself with potentially life-saving information. That said, genetic testing can have emotional implications that are important to consider. If someone finds out that they carry a genetic mutation, they may feel as if they are sick, even if they never ultimately get cancer. On the flip side, a negative result may produce a false sense of security. Someone without genetic mutations can still get cancer. It just means they are at average risk for the disease. Sometimes, the results of genetic testing can cause family tension, especially if some members get positive results while others are negative for a mutation. But it’s important that family members are aware of their genetic history. There are resources that can help in sharing information with your family.

We know so much more now than we did decades ago, when genetic testing first became possible. For instance, we now know that the most common and lethal type of ovarian cancer actually begins in the fallopian tubes. So if someone found out that they have a genetic mutation that puts them at an increased risk for ovarian cancer, they can discuss with their doctor actions they can take to prevent it – whether that be oral contraception (which has shown to reduce risk for both ovarian and endometrial/uterine cancer) or prophylactic surgery (removing the fallopian tubes and/or ovaries). No one has to live in fear of the unknown, because there are actions – safe and effective actions – that someone can take.

Having a genetic mutation does not mean that you will get cancer. But it does place you at a higher risk for a particular cancer or set of cancers, depending on the mutation. Someone with a genetic mutation that places them at higher risk for, say, breast cancer may never develop the disease. And someone who has no known genetic mutations may still one day get diagnosed with cancer. But if you do know that you have a genetic mutation that places you at higher risk, you can discuss this with your doctor. You may get additional screenings, depending on the kind of cancer, or choose to adopt some lifestyle changes. And in the case of ovarian cancer, in particular, you may choose to take prophylactic actions, such as removing your fallopian tubes, or if past menopause and childbearing, a bilateral salpingectomy oophorectomy, that could greatly reduce your risk.

For those who have been diagnosed with ovarian or other gynecologic cancers, NCCN (National Comprehensive Cancer Network) guidelines recommend germline testing (which looks for inherited mutations) and somatic testing (which looks at the DNA in the tumor itself). Knowing if someone carries an inherited genetic mutation can help family members of the patient take actions if inherited mutations are found so that they can prevent ever developing the disease in the first place. Furthermore, knowing whether there are any genetic mutations – either inherited or in the tumor – will help guide the patient and medical team to the best treatment options.

Genetic counseling is when a medical professional, such as a genetic counselor, asks questions about your personal and family history with cancer, as well as questions about your heritage. The reason they ask about heritage is that some ethnicities and backgrounds, such as Ashkenazi Jews, have a higher incidence of certain genetic mutations. The genetic counselor uses this information to help determine if you may be at increased risk for ovarian or other related cancers, and may then recommend you undergo genetic testing. They will also provide guidance and counsel after you get your results.

The National Society of Genetic Counselors can help you find a genetic counselor.

Costs for genetic testing may vary, but companies like Color Health offer Hereditary Cancer Tests for $250. Many insurance carriers will cover the cost for these tests (or tests done through your doctor’s office) if you have a family history of certain cancers. It is best to speak with your insurance carrier directly to determine exact coverage.

According to American Society of Clinical Oncology (ASCO), a federal law known as the Genetic Information Nondiscrimination Act, or GINA, prohibits employers and health insurers from using genetic information, including your family history and genetic test results, to discriminate against you. However, current federal laws don’t prohibit the use of family history or genetic test results by life, long-term care, or disability insurers. A genetic counselor can provide more information on GINA,