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Genetic Testing Dilemmas

  • By Peter Tyson
  • Posted 03.08.12
  • NOVA

Scenario 3: Breast or Ovarian Cancer

You are a 25-year-old unmarried woman. Someday you plan to have children. You're worried because you have a family history of cancer: Your mother and aunt died of breast cancer, and one of your grandmothers of ovarian cancer. You've learned that women with a mutation in the BRCA1 gene have a 60 to 80 percent greater chance than the average woman of getting breast cancer, and a 40 percent increased risk of developing ovarian cancer. Your doctor has advised you to get specialized genetic testing to see if you have such a BRCA1 mutation—or one or more less common genetic glitches that also increase your likelihood of getting breast or ovarian cancer.

Young woman

Given the above information, would you get tested?

Once you make this initial choice, you will have a chance to review some key issues that people typically consider. Then you can choose again—and see how others felt.

Now consider the following and then decide again afterwards:

if you have a mutation, you can do something about it

Women who learn that they have a BRCA or other mutation that increases their risk of developing breast or ovarian cancer have a range of care options, from getting earlier mammograms or other screening, to undergoing risk-reduction surgery (removal of healthy breasts and/or ovaries before any cancer has developed). In order to consider such preventative measures in time, it is wise to be tested, if possible, before about age 35:

"[W]hen I tested positive, [I said] Okay God, now what do I do next? … I struggled with it. It was a very difficult few weeks. … I got there, but it was a difficult realization to come to, really emotional and really hard. … I decided actually to do everything. I came to the conclusion first on the breast thing, and continued my research and decided the ovaries had to go too. … Looking back, I have no regrets." —Anonymous

many fear getting bad news

Getting tested can be scary, especially if you have a family history of breast or ovarian cancer:

"I do remember the day that I went to find out the results. Panic. Terror. I mean, what was I going to find out? Talking about, you know, the blood surging through your temples. I mean I just remember sheer terror." —Lori Siegel, sister of Melanie, who died of ovarian cancer, and of Lissa, who has a BRCA mutation and has had breast cancer

some want to alert their close relatives of risk

Some women who have had breast cancer want to know if they have a predisposing BRCA1 or other breast-cancer-related variation so they can inform their children or other close family members of potential risks and thereby encourage them to get early screening and take other steps to prevent the disease:

"[A]s soon as I felt the lump, I kicked myself and asked myself why didn't I get tested three years ago when I had the [single] mastectomy? This time, I was tested immediately because I have two daughters and [now] three granddaughters. Now it had urgency because I needed to know if I carried the mutation for more daughters and granddaughters to know. That was absolutely imperative." —Anonymous

family may not agree on testing

Even your closest kin may not agree with you about testing, and after getting results you have to be prepared for how best to inform your relatives—or not:

"I was arguing with my husband. He didn't want me to have testing, saying I was 'playing God.' While we were arguing, my twelve-year-old daughter overheard and we had to explain it to her. She faltered. She was frightened, and even had to come home from school one day." —Anonymous

parents can experience guilt

It is common for parents to feel guilty for having passed on a mutation to their children:

"He was really sad. … It wasn't his own mortality, it wasn't the fact that he could be at risk, but he was undone at the thought that he has passed this on to his daughters." —Anonymous, about her father who has a BRCA1 mutation

for some, timing can be an issue

For some people, the timing may simply not be right for getting tested, with all its attendant emotional baggage:

"After my mother's surgery, the doctor came out and explained to us that she had ovarian cancer and then he looked straight at me and said, 'I would highly recommend genetic testing for you at this point.' … I have not been tested yet, and it's been one of those things hanging over my head for the last two years. My children are young and they need me. I help my husband run his business. … There is only so much I can afford to have hanging at once. My life is not in the place where I could take that on." —Anonymous

Are you ready to decide again about whether you would want to get tested for BRCA1 mutations or other genetic variants associated with an increased risk for getting breast or ovarian cancer?

Remember, there are no right or wrong answers, and only your choice will be recorded, not your name or any other identifying information.

Knowing all of the above, would you get tested?

facts & figures

Cancers occur when a buildup of genetic mutations in several different critical genes allows cells to grow and divide uncontrollably.

The number of women in the U.S. alone who are diagnosed each year with invasive breast cancer is in the hundreds of thousands. Men also get breast cancer, though women are 100 times more likely to.

Some breast cancers that cluster in families are associated with inherited mutations in particular genes, such as BRCA1 or BRCA2, though only 5 to 10 percent of all breast cancers are hereditary.

With a strong family history of cancer, your doctor would order specialized tests that screen for a wide range of mutations or other variations specifically linked with heightened risk for breast or ovarian cancer. A direct-to-consumer test that you order yourself (see Scenario 4) would only search for common variations but would not detect highly significant variations that carry a high risk for disease, including rarer BRCA1 and BRCA2 mutations.

Sources

General

Collins, Francis S. 2010. The Language of Life: DNA and the Revolution in Personalized Medicine. HarperCollins.

Davies, Kevin. 2010. The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine. Free Press.

Elton, Catherine. 2009. "The Burden of Knowing." Boston Magazine. January.

Green, Ronald M. 2007. Babies by Design: The Ethics of Genetic Choice. Yale University Press.

Harmon, Amy. 2006. "Couples cull embryos to halt heritage of cancer." The New York Times, 3 September.

Zallen, Doris Teichler. 2008. To Test or Not to Test: A Guide to Genetic Screening and Risk. Rutgers University Press.

Scenario 3: Breast or Ovarian Cancer

"[W]hen I tested positive…" Zallen (see General sources), 82.

"I do remember the day…" From NOVA's "Cracking the Code of Life," original airdate 17 April 2001. See transcript at: www.pbs.org/wgbh/nova/body/cracking-the-code-of-life.html

"[A]s soon as I felt the lump…" Zallen, 96-97.

"I was arguing with my husband.…" Ibid., 71.

"He was really sad.…" Ibid., 55.

"After my mother's surgery…" Ibid., 62.

Credits

The author would like to thank Doris Teichler Zallen, author of To Test or Not to Test (see Sources, General), for reviewing this feature for accuracy and for her kind permission to quote extensively from her book. Thanks also to Lars Bertram, M.D., Head of the Neuropsychiatric Genetics Group at the Max-Planck Institute for Molecular Genetics; Mary-Claire King, M.D., Ph.D., at the University of Washington School of Medicine; and Mark Hughes, M.D., Ph.D., Senior Scientist and Director at the Genesis Genetics Institute. Thanks, finally, to Mary Crowley and Josephine Johnston of the Hastings Center (www.thehastingscenter.org) for helpful comments on the text.

Producer:
Peter Tyson
Designer:
Kim Ducharme
Developer:
Daniel Hart

Images

Intro: hand with pen over DNA sequencing
Jacob Halaska/Photolibrary/Getty Images
Page 1: IVF embryo testing
Pascal Goetgheluck/Photo Researchers, Inc.
Page 2: scans of normal (right) and Alzheimer's brains
Science Source/Photo Researchers/Getty Images
Page 3: woman crossing her arms
Helen McArdle/Photo Researchers, Inc.
Page 4: close-up of DNA sequencing gel
Steven Puetzer/Photographer's Choice RF/Getty Images