The American Society of Breast Surgeons released new consensus guidelines on Feb. 14, calling for genetic testing to be made available to all patients diagnosed with breast cancer. The new guidelines expand earlier recommendations that encouraged testing only for certain age groups and types of cancer.
Eric R. Manahan, MD, a surgeon at Hamilton Physician Group – General Surgery in Dalton, chaired a group of world-renowned genetics experts to draft this new consensus statement. Other represented institutions included Johns Hopkins, Memorial Sloan Kettering (New York City), MD Anderson, Mayo Clinic and Harvard Medical School, to name a few. The statement is based on an extensive review of current literature that suggests that recent National Comprehensive Cancer Network (NCCN) criteria resulted in a number of potential disease-producing variants going undetected. Some patients and their family members developed cancers that could have been prevented with testing under the new, broader guidelines.
Identification of specific genetic inconsistencies in breast cancer patients often provides crucial guidance for more effective disease management. Additionally, relatives of those who are shown to have abnormalities and have a high probability of carrying the same potential disease-producing genes also could be tested. This would offer appropriate risk-reducing strategies for early stage diagnosis. Currently, NCCN guidelines allow for testing of family members of patients with identified potential disease-producing variants but only identify about 50 percent of breast cancer patients with those variants.
“Cancer risk assessment is an important part of well care for all of us,” said Manahan. “We look to activities or lifestyle changes including dietary habits that we can change to reduce our risk for certain types of cancer. We have also learned that more than 10 percent of all cancers do have some genetic component that can increase our risk for developing certain cancers.”
Breast cancer in the United States was estimated to affect more than 266,000 people in 2018. Of that number, approximately 40,000 would be expected to die from their disease. While experts have been looking at the genetic information of women with obvious family history of breast cancer, recent data has shown that genetic information may also be valuable and impact future care decisions for many other women where there is not a family pattern.
Frequently Asked Questions
Should I have genetic counseling?
The choice to have genetic counseling and proceed with genetic testing is one to be taken seriously and with some caution. Though it can sound simple to be tested, there are many things to consider before making this decision. Our physicians and nurses will help guide you through the entire process so you understand the pros and cons of genetic testing. If you or your family is interested, you should be certain to also ask for genetic counseling who can explain to you the meaning of the tests. Just because you may have a gene implicated in a specific cancer does not mean that you will definitely get cancer.
How do I initiate the process of testing?
If you have a significant family history of breast and/or ovarian cancer and you’re interested in genetic testing, it is recommended that a relative who has had breast or ovarian cancer be tested first. If your family member with cancer is tested and found to have an abnormality in one of these genes, other relatives with or without cancer may be tested for that specific genetic mutation.
If you then test negative for the genetic mutation that is known to be present in the family, your chance of developing breast or ovarian cancer is probably no higher than the risk faced by an individual without a significant family history. If you test positive, your risk for developing breast or ovarian cancer is substantially increased, but still not 100 percent.
What are the risks of genetic testing?
There are certain risks associated with genetic testing for cancer susceptibility, including the possibility of insurance or employment discrimination. There are some federal and state laws designed to lower the risk of insurance discrimination, but they only pertain to specific types of insurance. Other risks of genetic testing are adverse psychological reactions and disrupted family relationships. An individual who tests positive may experience anxiety, guilt, depression or fear. Family members may have similar feelings, which could cause strain between relatives.
What if I don’t have a family history of breast cancer? Should I be tested anyway?
The guidelines regarding who should be tested continue to evolve as we learn more about genetics and their role in cancer. If you have a question, ask your primary care physician.
Individuals who might consider genetic testing include:
- All patients diagnosed with breast cancer and/or ovarian cancer.
- An individual with a relative who has a pathogenic variant in a cancer susceptibility gene.
- An individual who has a 1st or 2nd degree relative with any of the following:
- Breast Cancer ≤ 45 y/o
- Ovarian Cancer
- Male Breast Cancer
- Pancreatic Cancer
- ≥2 Breast cancer primaries in a single individual
- ≥2 individuals with breast cancer primaries on the same side of family with at least one diagnose ≤50 y/o
- An individual with a personal and/or family history on the same side of the family of 3 or more of the following (especially if diagnosed age ≤50 y/o; can include multiple primary cancer in same individual)
- Breast cancer, sarcoma, adrenocortical carcinoma, brain tumor, leukemia
- Colon cancer, endometrial cancer, thyroid cancer, kidney cancer, dermatologic manifestations, macrocephaly, or hamartomatous polyps of GI tract.
- Lobular breast cancer, diffuse gastric cancer
- Breast cancer, GI cancer or hamartomatous polyps, ovarian sex chord tumors, pancreatic cancer, testicular sertoli cell tumors or childhood skin pigmentation.
What does genetic testing cost?
Genetic testing pricing has decreased significantly with multigene panel testing costing as little as $250. Many insurance companies cover the cost of genetic testing, though most companies require that the family history meet specific requirements. It is always best to understand your own insurance coverage before beginning the process of genetic testing.