Understanding the role of genetic testing after an ovarian cancer diagnosis.
Every cell of your body has two copies of every gene – one copy that is inherited from your mother and one copy from your
Sometimes, ovarian cancer has a hereditary element — you may have someone in your family who has had breast or ovarian cancer. The most commonly mutated genes that we know to be associated with an increased risk of developing ovarian cancer are BRCA1 and BRCA2. There are other genes e.g., PALB2, RAD51C/D that, when changed, are also known to be associated with an increased risk of developing ovarian cancer. Often, when genetic testing is ordered, testing will look for changes in these and other specific genes. Therefore, this testing is also referred to as
Genetic testing is important for people diagnosed with ovarian cancer because it may inform your doctors about the best treatment options for you.
Genetic testing is standard for people diagnosed with ovarian, fallopian tube, or primary peritoneal cancer even if you do not have a family history of cancer. So, your doctor will most likely discuss it with you. However, a recent study published by the Journal of the American Medical Association warns that not enough patients underwent genetic testing for inherited mutations (germline testing) between the years of 2013-2019. Clearity's Director of Science and Clinical Trials, Anne Mette Buhl, PhD, states, "We're encouraged that out of all the cancers present in this study, people with ovarian cancer were one of the highest groups to receive genetic testing; however, 39% isn't good enough. Our goal is for every person with ovarian cancer to receive the necessary testing because of the critical role the results play in improving treatment outcomes."
If your doctor does not bring it up, you can always ask if and when genetic testing will be done. If your doctor does not suggest genetic testing, consider getting a 2nd opinion, for example, at a National Cancer Institute Designated Center where these tests can be done.
The Role of Genetic Counselors
If you would like more information about the implications of genetic testing for you and your family, a genetic counselor can provide you with knowledge and support. To find a genetic counselor (if one is not offered at your treatment facility), see the National Society of Genetic Counselors.
Genetic Testing Results
It can take up to four weeks to get your complete genetic testing results. It is your right to request a copy of your results. You can receive a copy of your results from your genetic counselor, the healthcare provider who ordered the test, or from the lab that performed the test. Having access to your genetic testing results allows you to share your results with other healthcare providers and/or family members.
After your results come back, have a follow-up discussion with the genetic counselor and/or the doctor who ordered the testing. This conversation will allow you to learn what the results mean for your treatment plan and your family members. If your genetic test results show that you have an inherited genetic change, a genetic counselor will be able to explain which of your family members should be informed about your results and who out of your family members are recommended to undergo genetic testing themselves to determine if they have inherited the changed version of the gene that may increase their risk of developing cancer. The process of informing family members of a genetic condition and their undergoing genetic testing themselves is referred to as cascade testing.
Knowing the results of your genetic testing after an ovarian cancer diagnosis is very important for your doctor to know how to plan your treatment as well as to refer you to a doctor who can help you decide what to do about other cancers that you may be at a higher risk of developing.
Check Out These Additional Resources:
MedlinePlus - Help Me Understand Genetics
Cancer Support Community - Precision Medicine: Cancers You Can Inherit
American Cancer Society - Hereditary Breast and Ovarian Cancer Syndrome (HBOC)
Facing Our Risk of Cancer Empowered (FORCE)
Ovarian Cancer Research Alliance - Free Genetic Test Kit Questionnaire
Ovarian Cancer Research Alliance - Genetic Mutations in Ovarian Cancer
Source:
American Cancer Society. (2021). Ovarian cancer risk factors. https://www.cancer.org/cancer/types/ovarian-cancer/causes-risks-prevention/risk-factors.html
Kurian, A. W., Abrahamse, P., Furgal, A., Ward, K. C., Hamilton, A. S., Hodan, R., Tocco, R., Liu, L., Berek, J. S., Hoang, L., Yussuf, A., Susswein, L., Esplin, E. D., Slavin, T. P., Gomez, S. L., Hofer, T. P., & Katz, S. J. (2023). Germline genetic testing after cancer diagnosis. JAMA, 330 (1). https://jamanetwork.com/journals/jama/fullarticle/2805796
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