Personal Story: Why one woman passed on genetic testing

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People considering genetic testing and people who are Ashkenazi Jewish

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What are reasons to get or not get genetic testing? Cynthia Graber gives her thoughts on the matter in her Wired opinion piece, "Why I Won't Get the Genetic Test for Breast Cancer." (11/15/16)


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 and references

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 BRCA mutations. Cynthia is an Ashkenazi Jewish 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 BRCA 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 BRCA mutation.

Additionally, Cynthia’s Ashkenazi Jewish ancestry puts her at a higher chance for having inherited the BRCA mutation than the general population. An estimated 1 in 300-500 people in the United States has a BRCA mutation.  In the Ashkenazi Jewish 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 BRCA mutations.  This is likely a reference to well established survival benefit of risk-reducing removal of the ovaries and fallopian tubes.

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 BRCA 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 BRCA. 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 BRCA 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 hereditary cancer?

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, fallopian tube, 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
  • Triple-negative breast cancer before age 60
  • Ashkenazi Jewish heritage and breast cancer

More than one relative on the same side of the family with any of these cancers:

  • Breast cancer
  • Ovarian or fallopian tube cancer
  • Prostate 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 BRCA 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. BRCA 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 BRCA mutations. Because of this, a mutation can easily go unnoticed in men.  But it is important to remember that men with BRCA mutations have an increased risk of male breast cancer, prostate cancer, pancreatic cancer, and melanoma. The presence of these cancers in men in the family can also be a sign of hereditary cancer. Men who carry mutations in BRCA 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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Expert Guidelines

The National Comprehensive Cancer Network (NCCN) is a consortium of cancer and genetics experts that publishes consensus guidelines for genetic testing for inherited mutations that increase cancer risk. NCCN guidelines recommend referral for genetic counseling and testing for people diagnosed with :

Any person of Ashkenazi Jewish ethnicity with the following, meets NCCN Guidelines for genetic counseling and testing:

  • diagnosed with breast cancer at any age or stage. 
  • diagnosed with high-grade prostate cancer at any age. 

Any person diagnosed with any of the following cancers meets NCCN Guidelines regardless of their ethnicity:

  • Ovarian, fallopian tube or primary peritoneal cancer diagnosed at any age or stage. 
  • Pancreatic cancer diagnosed at any age or stage. 
  • Metastatic prostate cancer.
  • Breast cancer diagnosed at, or younger than age 50.
  • Triple-negative breast cancer diagnosed at, or younger than age 60. 
  • Male breast cancer.
  • More than one breast cancer diagnosis in the same person.
  • Breast cancer at any age and a family history of breast, ovarian, pancreatic or high-grade prostate cancer. 

These guidelines are up-to-date as of 10/04/19

Questions To Ask Your Health Care Provider

  • 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

  • NCT03351803: BRCA Founder Outreach Study (BFOR). The study offers BRCA genetic testing to women and men of Ashkenazi (Eastern European) Jewish ancestry, age 25 or older. This group is at least ten times more likely than the general population to inherit certain kinds of BRCA mutations. The study is open to people who live in the Boston, New York, Los Angeles or Philadelphia metropolitan areas.

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