When predictive genetic testing using linkage analysis was first offered in 1986, many health professionals believed that one major use of this technology would be to allow individuals at risk to learn whether or not they carried the HD gene, and use further testing and reproductive technologies to prevent passing on the HD gene to their offspring. Health professionals believed that people would use the test to make decisions about childbearing, because that was what individuals at risk for HD reported. In one study conducted soon after the introduction of testing using linkage, 79% of individuals said that they would use a pre-symptomatic test if it were available. Nearly 2/3 said they would use the test for prenatal diagnosis, and of these, 71% would terminate a pregnancy if the fetus were found to carry the HD gene (Kessler at al., 1987
). Currently, however, the number of individuals at risk choosing to be tested remains low, and the number choosing prenatal testing is lower still.
The sparse literature on reproductive decision making by individuals at high risk for passing on a genetic disorder tells us little about how they make that complex and critically-important decision. The purpose of this paper was to explore this topic in a group of individuals at risk who have chosen not to be tested. In our interpretation, participants fell naturally into three separate groups: Group 1) those who knew they were at risk and chose to have children, Group 2) those who were unclear or misinformed regarding their risk for HD at the time they were starting their family; and Group 3) those that knew of their risk for HD and decided not to have children.
For the first group, we identified four main themes, Hoping for a Cure, Feeling Guilty, Just Another Something, and Magical Thinking. Participants convinced themselves that it would be safe to have children, because they believed that research is progressing rapidly and a cure, or at least a treatment, would be found in the near future. One factor influencing their thinking is the belief that “science will save us.” The paradox is that if people at risk base their decision to have children on the promise of current and future breakthroughs in HD research, an unintended consequence may be the creation of more people at risk. Research progress, or even just the promise of progress, could inadvertently promote the proliferation of the gene and increase the incidence of the disease.
Once the decision has been made, however, participants were not without a measure of remorse about their decision. This re-thinking is reflected in the themes, Feeling Guilty and Magical Thinking. We think these two co-occur because magical thinking along the lines of “I just don’t have it” is in part motivated by feeling guilty over what some consider a “selfish” choice regarding children. Our fourth theme, Just Another Something, is also an attempt to normalize HD by putting it on a continuum with all the other ways that one could die, thus reducing its importance as a factor that needs to be considered in making decisions about procreation. This reframing ignores the large difference in the real probabilities between the risk of getting HD (50%) and the risk of being hit by a truck (very low).
Group 2, those for whom the risk of HD was unclear at the time they had their children, expressed little regret in reference to their childbearing. What was done was done; they loved their children dearly. However, in a few cases, realizing that they may have already unknowingly passed on the gene did have a negative impact on family members. Some participants expressed regret that they did not have the option of testing or the choice whether or not to pass the gene onto their children.
The most complicated situation occurs when a couple learns about their risk after they have already had one child but have not yet completed their family, In addition to grasping the fact that one is now at risk, the parent must grapple with the fact that they may have already passed on the gene. If parents still desire more children, they must decide whether to be tested first, whether to undergo prenatal testing if positive, or whether to simply have another child.
For us, it is the third group that is the most poignant. This group was aware of their risk and deliberately and consciously made the decision to have no children. In the extreme case, the decision extended to self-imposed restrictions on all relationships of any intimacy, in case the “H-Bomb” went off. Members of this group based their decision on personal experiences with an affected parent. As a result, they either did not want to pass on the gene, or did not want to have their own children go through what they had gone through. Some of the stories they told were horrific, a veritable nightmare of shame, abuse, alcoholism, suicide, and loss. A few made the irrevocable decision not to have children at a very young age through sterilization. One consequence of the decision to shun relationships and forego children is that if these participants were to become affected, they do not know who would care for them.
James March, a scholar in the field of decision theory, offers this insight into the thinking of people making decisions under conditions of real or supposed uncertainty: “Decision makers tend to exaggerate their control over their environment, overweighting the impacts of their actions and underweighting the impact of other factors, including chance. They believe things happen because of their intentions and their skills (or lack of them) more than because of contributions from the environment. As a result, “there is a strong tendency to treat uncertainty as something to be resolved rather than estimated” (1994, pp. 37-38). He suggests that we treat uncertainty as a problem to be removed, as a way to control what is essentially uncontrollable. The stories of participants in Group 3 reveal an emphatic resolution of uncertainty through permanent solutions.
John Steinbrunner’s work in decision-making offers other possibilities for understanding the thinking processes used by participants as they made their choices about childbearing. This theory provides a template for examining how individuals at risk, and their spouses, make complex and emotional decisions under conditions of uncertainty. His model critiques analytic theories of decision making, theories that assume that people are capable of understanding and using probabilities. These theories also suggest that people integrate their values, measuring different values on the same numerical scale, in everyday decisions and under conditions of uncertainty. He proposed that instead we tend to structure decisions around single values and to limit our search for information to a few variables. People also try to manage uncertainty by making “inferences of transformation (magical thinking), inferences of impossibility, and the use of simple analogies to anchor our logic, independent of evidence. (p. 116)
These quotations from HD research participants, especially those in Group 1,(the group who knew of their risk and decided to have children anyway, illustrate Steinbruner’s description of inferences of transformation (Steinbruner 1974
). In transformation inference, decision-makers appear to be managing the uncertainty of their situations by projecting the risks of HD far into the future where surely lies the cure. This method of dealing with uncertainty in a complicated decision is a way of protecting participants’ belief that having children is a normal and a right thing to do from a negative interpretation that they and their children are at risk for Huntington’s disease.
These stories illustrate another feature of Steinbruner’s model of decision making: the complicating effect of involving more than one decision maker. He states, “It is very clear that one of the prime characteristics of human beings under uncertainty is that they bolster their judgments by the concurring opinions of other people.”(Steinbruner 1974
p.121). If the other person—the spouse in these stories—makes the same inferences about the situation, that a cure is in the near future, this concurrence strengthens the belief of the decision-maker. For example, in Lisa’s story, though she wanted children, she initially decided to adopt. However, her husband wanted biological children and influenced her with his belief that a cure would soon be found. This influence, intended or not, caused her to give in to her husband’s desire for children of his own. Despite her original misgivings, they had two children.
Ironically, while writing the final draft of this paper, the primary author received a phone call from a woman tested in 1991. The author describes the phone communication:
She had tested positive and had been diagnosed with HD in 2004. The purpose of her call, in her own words, was “to vent.” She said to me “I was given a lot of hope in 1991 when I was tested and I felt that not even I myself would have to deal with this disease.” She already had two children at the time of testing:a son, now 30, and a daughter, now 22. Neither of them is interested in testing nor is planning to have children, thus “depriving” her of grandchildren. She continued, “I don’t tell people I am on disability. I tell them I am retired. I am embarrassed and ashamed for my family and I don’t know how to tell people I have HD.” In essence, she called to express the fact that she felt she had been misled at the time she was tested to the point where she believed that a cure or treatment would be found to allow her, even though gene positive, to escape having to deal with developing HD. Curiously, even though the HD gene was found in 1993, (after her positive test), the fact that no treatment or cure had materialized diminished the importance of that major breakthrough in her eyes (Quaid, personal communication 2009).
All these stories demonstrate features of a complex decision made under conditions of great uncertainty. Their faith in the benevolence of science, reliance on what “they” will discover, sureness that cures will be forthcoming, and awaiting the miracles science will engineer, gives them permission to overlook the daunting odds enmeshed in decisions about having children. The combination of hope and trust in sophisticated technology provides these men and women a cognitive and emotional refuge as they make these terribly difficult decisions.
Significance And Implications For Practice
We think these stories illustrate a fine line to walk between offering hope to patients and families about the possibility of a treatment or cure, and making easy, and perhaps unfounded, predictions about when a treatment or cure might actually be found. In the face of the reality of the inexorable slowness of good science, we must try to encourage people facing a life-threatening illness like HD to support and trust genetic research while maintaining a realistic expectation about the availability of a cure or treatment in their lifetime or the lifetime of their children. At heart, many, if not most, genetic counselors share a love of science. We must pay close attention to the manner in which we frame our own beliefs in the power of research. We must attend carefully to messages sent by us, our research colleagues, dedicated fundraisers and family members who may have their own agendas. Only then can we more fully participate in helping families engage in mindful decision-making in a world of uncertainty, threat, and hope.
One of the limitations of a study such as this is that there is, simply, too much information. To present the identified themes in a coherent manner, we made conscious decisions about which voices to include and which interviews to highlight. As a result of our choices, some data, by necessity, were not addressed. For this paper, we focused on stories about reproductive decision-making, which was only one question of many on our interview guide. Given the poignant narratives quoted here, these decisions are critically important to the participants.
PHAROS study participants are also likely to be a select subgroup of the population at risk for HD and choosing not to be tested. Individuals we interviewed were those who chose not to be tested but were comfortable enough with that decision, comfortable enough with their risk, and with themselves, to subject themselves to a neurological examination every nine months, some for as long as eight years. They were also comfortable enough to discuss such extremely personal decisions with a known health care professional.
We consider it a strength of this study that the interviewers were experienced clinicians who had known these participants for years and had, in many cases, taken care of their affected relatives. The interviewers were well-known and, we believe, trusted. We think that these ongoing relationships led to better interview data than a one-time experience with a stranger but these relationships may have influenced the interviews in unknown ways.
While childbearing and reproductive decision-making were not the sole focus of our original study, they were clearly important topics of conversation for our participants. Given the age of our participants, many would have been at least 30 years old when genetic testing (using direct gene testing) became available. Many already had their children by that age, making the issue of testing, at least for reproductive purposes, less salient. Today, genetic testing is rapidly moving into mainstream healthcare practice. It is uncertain whether the next generation of those at risk for HD and similar disorders will become more comfortable with the idea of testing, and with using that information to inform their childbearing decisions. Researchers should construct prospective, longitudinal, qualitative studies of young adults at risk as they begin to face important life choices. Such inquiry would make an invaluable contribution to the understanding of how individuals at risk use, or do not use, available technology. Studying young adults would provide insight into how their attitudes and choices about having their own children may change over time thus increasing awareness about which information is most helpful in maintaining the ability to hope for the future while understanding the realities of the present.