Personal Story: Why one woman passed on genetic testing

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Contents

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.”

Why she was thinking about genetic testing:

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.

Why she won’t get the genetic test for breast cancer:

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.  

Should you get genetic testing?

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
  • cancer
  • Pancreatic cancer
  • Melanoma

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. 

Men carry mutations too

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.  

Posted 11/15/16

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References

Graber, C. “Why I Won’t Get the Genetic Test for Breast Cancer.” Wired. Published online on Sept. 27, 2016.

Disclosure

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

Previvors

Women under 45

Be part of XRAY:

Expert Guidelines Expert Guidelines

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 inherited mutation 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
    • cancer
    • melanoma
    • sarcoma
    • adrenal cancer
    • brain tumors
    • leukemia
    • endometrial cancer
    • thyroid cancer
    • kidney cancer
    • diffuse gastric cancer
    • colon cancer

Updated: 12/04/2021

Questions to Ask Questions to Ask Your Doctor

  • 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? 

Open Clinical Trials Open Clinical Trials

Below are clinical trials that include genetic counseling and testing.

Other genetic counseling or testing studies may be found here.

 

Updated: 12/05/2021

Peer Support Peer Support

FORCE offers many peer support programs for people with inherited mutations. 

Updated: 03/12/2022

Find Experts Find Experts

Health care providers who are specially trained in genetics can help you more clearly understand your risk for . The following resources can help you locate a genetics expert in your area.

  • The National Society of Genetic Counselor website offers a searchable directory for finding a genetic counselor by state and specialty. To find a genetic counselor who specializes in cancer genetics, choose "cancer" under the options "Area of Practice/Specialization." 
  • 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. 
  • 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. 
  • FORCE's toll-free helpline at: 866-288-RISK, ext. 704 will connect you with a volunteer board-certified genetic counselor who can answer general questions about genetic testing and cancer and help you find a genetics expert near you. 
  • FORCE Peer Navigator Program will match you with a volunteer who has undergone genetic counseling and can help you navigate resources to find a genetic counselor near you.
  • Ask your doctor for a referral to a genetics expert. 

Updated: 03/16/2022

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