Carrying a genetic burden
Decision to undergo gene test for breast cancer, other diseases is rarely clear-cut
Lorretta Krautscheid, a University of Portland assistant professor who teaches nursing ethics, started thinking about genetic testing for a breast cancer gene called BRCA when her 40-year-old cousin died of the disease eight years ago. At the cousins funeral, Krautscheid discovered a number of family members not only had developed cancer, but had tested positive for the gene.
A genetic test could tell Krautscheid with about 80 percent certainty whether she is destined to get breast cancer. She could then choose to have her breasts removed to eliminate almost any chance of the disease, as actress Angelina Jolie recently did.
Krautscheid defines herself as a very cautious woman. Before going to bed at night she double checks all the locked doors in her house and the garage door, even though she lives in a safe neighborhood. Yet when it came to a predictive test that could save her life, Krautscheid spent four years equivocating.
Oregonians with family histories of illnesses such as Huntingtons and Alzheimers disease increasingly are asking physicians and genetic counselors if they can take predictive tests to learn whether they will become victims. With those two diseases, which have no cures, physicians and counselors are wary, to say the least.
But a test for the BRCA gene that can lead to breast cancer is different because women, such as Krautscheid, should they test positive, do have a preventative option mastectomy. In fact, Krautscheid says with a positive test she would have opted for the surgery on her breasts and possibly her ovaries.
Krautscheid says that knowing she would have her breasts removed if she tested positive for the BRCA gene brought up questions about body image that were easier to deflect by putting off the test. Another, more compelling reason, had to do with fears of discrimination.
Krautscheid and her sisters were worried that positive test results in their medical records would make it harder for them to get health or life insurance, or even jobs, should potential employers find out. Some federal protections against genetic discrimination have been instituted in recent years, but they arent foolproof, in Krautscheids view. Besides, there is the law, and there is life.
Who is really going to be interested in marrying you if you hold the gene for Huntingtons or BRCA or anything? she asks.
There are other reasons Krauthscheid delayed testing. Shes a faith-oriented woman. This other thing over here is hope and spirituality and knowing that Ive led a good life. I havent exposed myself to environmental hazards. I dont engage in high-risk behaviors. So all of that combined should put me in a good place. I should be safe, she says.
So Krauthscheid became extra vigilant about getting mammograms and pelvic exams, until that was no longer enough. Four years ago, a sister was diagnosed with breast cancer and was found to carry the BRCA gene, and their mother was diagnosed with a second case of breast cancer. Two years later, an older sister who did not get a genetic test was diagnosed with stage three ovarian cancer.
Krauthscheid went in for testing and discovered she did not carry the BRCA gene. And telling her sisters became a tearful event because a little part of her felt a kind of survivors guilt.
Learning she does not carry the gene allows Krautscheid to be a little more objective now in examining why she went so long without testing. Even though she has a nursing background, she thinks fear of the medical establishment probably plays a role for many considering diagnostic testing.
Krauthscheid recalls going with her father to see an oncologist after he was diagnosed with colon cancer. He told the oncologist he had decided he didnt want radiation and chemotherapy after his colon was removed. He didnt want that poison poured in his body, Krautscheid says. He wanted to live the rest of his life with as high a quality as he could.
Most people, Krautscheid says, would rather avoid those types of decisions.
People would fear that, I have to do what they say. Im positive for the mutation, so now the professionals are going to tell me what I need to do next. I think thats where the majority of the public is coming from. (They) would think, I dont have my life anymore. I am at the mercy of the health care team.
Fear of being defective
One other barrier Krautscheid had to surmount before she could agree to testing had to do with a word: mutation. She hates it. Maybe, she says, popular culture has taken the word and placed it into our subconscious or pre-conscious with all sorts of horrible, monsterlike implications. The whole idea of predictive testing, she says, makes her think of books and movies where those with inferior genes get sent away to a separate district or planet. For Krautscheid there is a scary undeniability attached to the word mutation.
If this is true about me, if I have this mutation, then Im defective, she says.
Krautscheids sister, Forest Grove resident Karen Jackson, put off testing for 10 years. She says the cost of the testing at the time she was told she would have to pay $3,000 to $4,000 out of pocket was a key factor. So was the stage of her life she was just starting a family. Today she and her husband have four children ages 10 and younger.
Jackson says even if shed taken the BRCA test five or 10 years ago, during her childbearing years, she would not have opted for surgery. Besides, in her 30s she felt safe, since breast cancer has mostly struck her family members at a later age. She describes herself as more easygoing than her sister.
So why did Jackson submit to testing last week? During an annual checkup, her doctor found an ovarian cyst. The possiblity of cancer became much more personal, and visceral. She expects to get the results of her testing in two weeks.
Jackson insists that in the absence of testing, fear has not been a factor in her life.
Not knowing has not been hard for me, she says. Ive got other stress that outweighs anything like this.
In fact, Jackson says she suspects she will test positive for the breast cancer gene and even that prospect does not freak me out.
As a means of explaining why, Jackson points to a conversation she had with sister Lorretta, after Lorretta discovered she did not carry the breast cancer gene and was feeling guilty about it.
You know what I told her? Jackson asks. You know Lorretta, you came back negative, but that doesnt mean you wont get cancer.
Ethics questions cast shadow on predictive testing
Say you run a genetics lab where a couple has asked that fetal genetic testing be done for a serious inheritable illness such as Tay-Sachs Disease. That happens all the time, says Legacy Cancer Institute genetic counselor Paul Dorsey.
But when sequencing the genes, Dorsey explains, geneticists often find out more than just whether the fetus is likely to develop into a person with the one disease the parents asked about. Sometimes when the parents ask for a fetal genetic analysis for the cause of a heart defect, for example, lab techs discover the fetus is a carrier for a gene that predicts something else, such as for breast cancer.
Do we tell mom? Dorsey asks. We're still trying to decide. They're making decisions on whether they're going to keep this baby or not.
Dorsey says that Legacy's ethics board is dealing with the question. Meanwhile Legacy policy is to tell parents ahead of time that lab techs might discover something incidental, so parents can tell geneticists whether they want to know about other abnormalities testing might reveal. And Legacy will not perform prenatal whole genome sequencing, a recently developed technology that can inform parents about a host of potential diseases in their offspring.
The thinking? We're not sure how to handle the amount of information we get back, Dorsey says.
The reasoning that leads some patients to decide they don't want testing for a genetic disease means some people won't want incidental predictive information that geneticists might discover, say bioethicists. When U.S. labs are instructed to look for one mutation but discover a mutation for another disease they sometimes keep the findings a secret and destroy the evidence.
Dorsey says predictive testing is full of decisions in which the technology has outpaced our understanding of when and how it should be used.
It's a brave new world and scary at the same time, but there's a lot of power here and we're just starting to tap it," he says.Add a comment