Ethical Issues that Emerge During the Family Experience of Genetic Testing
Much has been written about the ethical implications of genetic testing for breast and ovarian cancer susceptibility.[9,70,71] However, little of this work has been from a family perspective. This is unfortunate because the literature that does exist about the family experience of genetic testing for breast and ovarian cancer susceptibility suggests that the decision to undergo genetic testing is seldom an autonomous decision based solely on the needs and preferences of the individual being tested.[2,4,5,6,7,50,51,52,70,74] Instead, it is often a decision based on feelings of responsibility and commitment to others, usually family members. For example, a woman who is currently receiving radiation treatment for breast cancer may decide to undergo BRCA testing not because she wants to find out if she carries a BRCA mutation, but because her two sisters have asked her to be tested and she feels a sense of responsibility and commitment to them. Or a woman with a strong family history of breast and ovarian cancer, who previously denied having any interest in testing, decides to be tested. Again, the reason she decided to be tested was not that she wanted to find out if she carries a BRCA mutation. She decided to be tested because she now has a daughter and she feels that she "owes it to her daughter" to be tested. In both cases, the decision to be tested was based on a sense of responsibility and commitment to others.
The fact that decisions about genetic testing are often based on feelings of responsibility and commitment,[2,4] rather than personal choice, means that for many individuals and families, the genetic testing experience is a potentially life-changing experience filled with complex ethical issues. Some of the ethical issues that commonly emerge during genetic testing include concerns about information and informed consent; the right to be tested or not; the rights of others; confidentiality and privacy; risk of discrimination; justice; direct marketing of genetic testing to consumers; and responsibility to future generations.[8,72,73,74] Individuals who feel obligated or pressured to undergo genetic testing because of familial or occupational responsibilities are likely to experience more difficulty with ethical issues than individuals who choose to undergo genetic testing because they believe that acquiring genetic information will support their personal and relational activities. That is, they have decided that the information they are able to acquire through genetic testing will be useful to themit fits with their personal values, beliefs, and needs, and it acknowledges their feelings of responsibility and commitment.
In the final part of this article, preliminary findings from an ongoing study are presented to illustrate some of the ethical issues experienced by individuals and families who choose to undergo genetic testing for breast and ovarian cancer susceptibility. The overall purpose of the ongoing study is to explore how individuals and families define and manage the ethical issues that emerge during four different types of genetic testing: maternal serum screening for Down syndrome, carrier screening for cystic fibrosis (CF), BRCA testing for families at increased risk for breast and ovarian cancer, and mutation analysis for Huntington disease. Families were recruited from a variety of sites in the eastern United States. Approvals from institutional review boards were obtained before initiation of data collection. To date, in-depth interviews have been conducted with one or more family members from 45 families. The number and type of ethical issues experienced by family members varied from one family to the next, but family members from all 45 families experienced ethical issues. For this article, only data from the 15 families in which at least one family member underwent BRCA testing were used.
Most of the family members who underwent BRCA testing had been seen at a familial cancer center where they had received pre- and postgenetic counseling from a genetic specialist, usually a genetic counselor. All of these individuals appeared to have received the information and support they needed to make well-informed decisions. Typically, they were very pleased with the care they received. Unfortunately, a few family members, who did not receive care through a familial cancer center, were not so fortunate. They received minimal pre- and postcounseling. One individual received his results, which were positive, over the phone.
Although the genetic testing experience was typically viewed as a family experienceone that impacts the whole family, not just the individual testedthe right of individual family members to make their own decisions about testing was generally respected. One woman said,
I actually had decided not to do the genetic testing because I felt like, well I know I've got breast cancer, what difference does it make if I have the gene, the mutation. Then, I talked it over with my two daughters and my sisters. My sisters said, "Do whatever you want." One of my daughters said, "Mom, whatever you feel comfortable doing is fine with me." The other one said, "I really would rather you didn't do it because if you do have the gene mutation, I don't want that thought in my mind. I don't want that negative tape."... Then we were talking one day and she said, "You know, I think that I am kind of interested to find out. If you still feel like doing the genetic testing, then go ahead, and do it." So, I did and it came out negative, which was surprising to me.
Because BRCA testing requires that testing be done first on an affected family member (one who has had breast or ovarian cancer), some family members who had no interest in, or were opposed to testing, were encouraged to reconsider their decision "for the good of other family members." Most of the time, the affected individual did eventually agree to be tested. However, in two of the families, this did not occur. In both of these families, the affected sister indicated that she refused testing because of something the other sister had said or done. In the first family, the affected sister refused testing because the other sister had indicated that if she ended up having a BRCA mutation, she was not going to have prophylactic surgery or do chemoprevention. In the second family, the affected sister refused to undergo testing because the other sister had refused prenatal testing and ended up giving birth to a child with Down syndrome. According to the sister who had a child with Down syndrome,
My sister said that because I didn't use genetic testing to terminate a pregnancy affected by Down syndrome and make life better for the world, she wouldn't use genetic testing to help me find out if we had a family thing. ... Personally for me there is a difference between a baby and a breast, but everybody sees the world differently. She just could never get past that. She could just never, to her dying day, believe that we brought this person (the child with Down syndrome) into the world. She said no woman on the planet would do what I did, refuse to have an amnio. She said that nobody who was sane would do what I did, nobody who was sane would bring a retarded person into the world.
When asked why they chose to undergo BRCA testing, most indicated they did it for their children and other family members. This was especially true for family members who had already had breast or ovarian cancer. All 10 of the family members who tested positive for a BRCA mutation reported feeling a responsibility or obligation to tell other family members. However, who, when, and how they told varied from person to person. Some only told members of their immediate family, whereas others told members of their extended family. Some shared the information immediately, whereas others waited until the "right time." For some family members, the right time had to do with the age of the family member being told or when key life decisions were being made (e.g., getting married, having children). For others it was more pragmatic; they waited until the next family gathering to tell them. A number of individuals indicated that they needed time to make sense of their own genetic status before they could tell others. In addition, some family members reported experiencing what Forrest and colleagues have described as a "disclosure dilemma," "they were torn between a desire to tell at the right time and a need to protect relatives from harmful information" (p. 323).
Most families had concerns about confidentiality and privacy. One woman, who chose to use a different name when she was tested for BRCA mutations said,
At that time, I didn't want anything in my records. It was five years ago, so it was still pretty new as far legislation goes. I just wanted it for me.
Another woman who had asked that her results not be included in her medical records was very surprised when the technician doing her transvaginal ultrasound said, " I see that you are positive for a BRCA mutation."
J Midwifery Womens Health. 2004;49(3) © 2004 Elsevier Science, Inc.
Cite this: Genetic Testing for Breast and Ovarian Cancer Susceptibility: A Family Experience - Medscape - May 01, 2004.