Personal Story: Why one woman passed on genetic testing
|Why Ms. Graber considered testing||Questions for your doctor|
|Why Ms. Graber decided against testing||Guidelines|
|Should you get testing?||Clinical trials|
|Men can carry mutations too||Resources|
What factors into your decision on whether or not to get genetic testing?
Cynthia Graber offers her thoughts on that question in her Wired opinion piece, “Why I Won’t Get the Genetic Test for Breast Cancer.”
In her piece, she talks about her mom calling her one day urging her to get tested for the mutations. Cynthia is an woman with some history of breast cancer on her dad’s side of the family (her dad’s great aunt and cousin both died of breast cancer). “She insisted. I immediately said no,” Cynthia writes. She recognizes that there is an increased likelihood of getting cancer for people with those gene mutations. Women in the general population have about a 12% lifetime chance for developing breast cancer. Women who carry a mutation have about a 45-65% lifetime chance for developing breast cancer. Their likelihood of developing ovarian cancer increases also—women generally have about a 1% chance of developing ovarian cancer compared to about 10-40% likelihood for women with a mutation.
Additionally, Cynthia’s ancestry puts her at a higher chance for having inherited the mutation than the general population. An estimated 1 in 300-500 people in the United States has a mutation. In the population, it is 1 in 40 people.
Cynthia knows that research shows surgery that removes breasts and ovaries in women at high risk of developing cancer greatly reduces their chance of developing cancer in the future. But then, she rightly says that, “every BRCA-positive woman has to weigh the strength of that survival data against the repercussions of surgery.” She talks about losing sensation in her breasts— “a crucial part of my sexual enjoyment.” She notes that after taking out her ovaries, she wouldn’t be able to have children. Also, it will put her into early menopause, which research has suggested may increase a woman’s chance of bone weakening and cardiovascular disease.
Surgery is not for her. But what about having twice-yearly breast cancer screening? This is also not for her because the chance of finding something on a scan increases greatly when someone is getting frequent mammograms and MRIs. She writes, “patients tend to pounce on those shadows. After years of tests and biopsies, some women give in and remove their breasts.”
She interviewed Barry Kramer, the director of the NCI’s division on cancer prevention, for her piece, who then talked about how the number of women undergoing mastectomies have increased even though there has not been much evidence pointing to a survival benefit. But the “patients are petrified,” he says. So “they take drastic, potentially harmful-and sometimes unnecessary-action.” Earlier in the article, she notes that there is evidence that surgery increases survival in women with mutations. This is likely a reference to well established survival benefit of risk-reducing removal of the ovaries and .
Ultimately, because of her limited family history of breast cancer and lack of history of ovarian cancer, she chose not to get testing because of what it would mean to her. A positive test would not make her want to get any surgeries. What a positive test would feel like to her though, is “hefting a sword, dangling it by a frayed thread above [her] head, and waiting for it to fall.” She says she is more afraid of living like that than she is of cancer.
It’s important to note that she has not had breast cancer and there is not a known mutation in her family. Under these circumstances many women make a different decision. However, family cancer history can change if more relatives are diagnosed with breast or ovarian cancer, or if a close family member discovers they carry a mutation in . In these cases, people who previously decided against genetic testing may change their mind. Discussing your family cancer history in light of any new cancer diagnosis is important for anyone concerned that the cancer in their family might be hereditary.
Cynthia has very valid reasons to not get genetic testing based on her principles and what she wants from life.
However, it should be emphasized that these are her personal reasons and choices.
As she mentions in the article, she spoke with a woman, “who decided, after much agonizing, to take the test and then remove her breasts and ovaries. She didn’t regret it.” While Cynthia fears the results of a positive test looming over her life, other women want to know their risk so they can be proactive and either remove their breasts and ovaries, take risk-reducing medications, or get more frequent cancer screening.
What are the signs of ?
Typical signs that a mutation linked to hereditary breast and ovarian cancer may run in your family include:
- Breast cancer at age 50 or younger
- Ovarian, , or peritoneal cancer at any age
- Breast cancer in both breasts at any age
- Both breast and ovarian cancer
- Male breast cancer at any age
- before age 60
- heritage and breast cancer
More than one relative on the same side of the family with any of these cancers:
- Breast cancer
- Ovarian or cancer
- Pancreatic cancer
The cost of genetic testing has been declining over the past few years, and many insurance policies cover genetic counseling and testing for women with a family history of cancer.
Lack of a strong family history of cancer or cancers at a young age does not mean a person does not carry a mutation. Certain aspects can mask a family history, such as a small family size and sex differences in some cancer mutations. mutations tend to affect women more profoundly than men simply because women have more breast tissue and men do not have ovaries—the two main cancers that are associated with mutations. Because of this, a mutation can easily go unnoticed in men. But it is important to remember that men with mutations have an increased risk of male breast cancer, cancer, pancreatic cancer, and melanoma. The presence of these cancers in men in the family can also be a sign of . Men who carry mutations in have a 50% chance of passing it down to their sons or daughters, so it is critical to pay attention to cancer history on both sides of the family.
Importance of genetic counseling
Cynthia does not mention whether or not she had genetic counseling before she made her decision. Experts recommend people who are concerned that the cancer in their family might be hereditary consult with a genetics expert. A genetic counselor will look at a person’s personal and family history of cancer, and give them information on the current recommendations for risk management. Talking to a genetic counselor or other genetics expert before testing can help a person decide if genetic testing is right for them. In the case of a person with a family history of cancer but no known mutation, a genetic counselor can help identify the best person in the family to test first.
Getting genetic testing is a personal decision. Cynthia’s piece should not be used as a reason to not pursue testing. If a person is still unsure about genetic testing after thinking about it and discussing it with a genetics expert, then it makes sense to not get genetic testing at that time. The important thing is that each person makes the decision that they are comfortable with.
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Graber, C. “Why I Won’t Get the Genetic Test for Breast Cancer.” Wired. Published online on Sept. 27, 2016.
FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.
This article is relevant for:
People considering genetic testing and people who are Ashkenazi Jewish
This article is also relevant for:
healthy people with average cancer risk
people with a genetic mutation linked to cancer risk
Be part of XRAY:
NCCN guidelines recommend genetic counseling and testing for people without cancer who have the following family history:
- A relative who has tested positive for an in a gene that increases cancer risk.
- One or more first- or second-degree relatives with breast cancer and any of the following:
- diagnosed at age 45 or younger
- two separate breast cancers, with the first diagnosis at age 50 or younger
- male breast cancer
- One or more first- or second-degree relatives with:
- colorectal cancer before age 50
- endometrial cancer before age 50
- ovarian, , primary peritoneal cancer
- rare or childhood cancers
- One or more first-degree relatives with:
- or high-grade cancer
- pancreatic cancer
- Two or more relatives on the same side of the family diagnosed with any combination of the following at any age:
- breast cancer
- pancreatic cancer
- adrenal cancer
- brain tumors
- endometrial cancer
- thyroid cancer
- kidney cancer
- diffuse gastric cancer
- colon cancer
- There is a history of breast cancer on my father’s side of my family, should I consider genetic testing?
- Should I get genetic testing?
- How can I tell if the cancer in my family might be hereditary?
- Will insurance cover genetic counseling and testing if I am interested in pursuing it?
- Can you refer me to a genetic counselor?
Below are clinical trials that include genetic counseling and testing.
- NCT02665195: Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes.
- NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women age 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.
- NCT04476654: Improving Uptake of Genetic Cancer Risk Assessment in African American Women-Video. This study looks at the usefulness of intervention with a culturally-tailored video to improve uptake of genetic counseling in Black women who are at increased risk of .
- NCT05694559: Connecting Black Families in Houston, Texas to Genetic Counseling, Genetic Testing, and Cascade Testing by Using a Simple Genetic Risk Screening Tool and Telegenetics. This study will provide genetic testing to 150 Black individuals and families and provide genetic counseling and risk reduction resources to individuals with a mutation linked to increased cancer risk.
Other genetic counseling or testing studies may be found here.
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once registered, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our Peer Navigation Program will match you with a volunteer who shares your mutation and situation.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.
- Check out our virtual and in-person support meeting calendar.
- Join one of our Zoom community group meetings.
The following resources can help you locate a genetics expert near you or via telehealth.
Finding genetics experts
- The National Society of Genetic Counselor website has a search tool for finding a genetic counselor by specialty and location or via telehealth.
- InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference.
- Gene-Screen is a third party genetic counseling group that can help educate, support and order testing for patients and their families.
- JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
- Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone.
- The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors.
- The American College of Medical Genetics website has a tool to find genetics clinics by location and specialty.
Other ways to find experts
- Register for the FORCE Message Boards and post on the Find a Specialist board to connect with other people who share your situation.
- The National Cancer Institute (NCI)-designated comprehensive cancer centers have genetic counselors who specialize in cancer.
- FORCE's toll-free helpline at: 866-288-RISK, ext. 704 will connect you with a volunteer board-certified genetic counselor who can help you find a genetics expert near you.