Cognitive Appraisal of Genetic Testing

There are rapid developments in the understanding of the genetic basis of multifactorial diseases such as cancer, cardiovascular disease, and diabetes, in which both genetic and behavioral factors can contribute to developing the disease. In this context, whether genetic testing influences the cognitive appraisal of the disease becomes a key issue. If having a genetic test leads people to appraise the disease differently, this may have implications for whether they will engage in behaviors that can reduce their risk.

In the general public, studies suggest that there is a common perception that the genetic risk of disease is less controllable than other risk factors. From a stress and coping perspective, the appraisal of a health threat as uncontrollable could initiate different coping procedures than its appraisal as controllable. Specifically, genetic risk information could invoke fatalism and could demotivate the individual from engaging in risk-reducing behaviors.

This hypothesis was tested - and was not supported - in a UK trial of genetic and nongenetic diagnoses of familial hypercholesterolemia. In this study, genetic testing appeared to influence the cognitive appraisal of the disease by reinforcing a biological model of the disease, such that the more genes were endorsed as contributing to coronary heart disease, the more medication was endorsed as an effective means of reducing risk.

Thus, there is some preliminary evidence that genetic risks are indeed appraised differently and may lead to greater engagement in biological rather than behavioral ways of reducing risk. As with the majority of the studies conducted to date, this research was conducted with participants already highly aware of their increased risk of disease.

Some studies have found that genetic test results do have an impact on behavior, such as an increased adherence to surveillance behaviors in those with an inherited predisposition to cancer. Indeed, some people who are found not to have a genetic predisposition to cancer find it difficult to accept that their risk is at the same level as the general population and still desire regular screening to detect cancer. To date there is little evidence to suggest that such populations feel falsely reassured that a negative genetic test means they have no risk of developing the disease.

Some people who do have an inherited predisposition to cancer opt to have prophylactic surgery (e.g., a mastectomy before any cancer has developed). Although this is clearly a difficult decision, the option to undergo surgery is an understandable coping strategy for those who have seen family members affected by cancer. Other studies, however, have not found any behavioral effects of genetic testing.

Given the equivocal findings across the few studies to date that have investigated behavioral outcomes, there is a need for improving our understanding of the mechanisms that may explain these differences. A number of authors are beginning to conceptualize the impact of genetic testing from a stress and coping and from a self-regulatory perspective.

These conceptualizations should pave the way for developing an evidence base of the mechanisms by which cognitive and emotional appraisal and self-regulatory processes impact on behavior following genetic testing.

This developing evidence base will lead to a greater certainty about how best to implement genetic testing for multifactorial diseases. In particular, as genetic testing for common diseases such as cancer and coronary heart disease becomes more widespread, there is a need to investigate the impact of genetic testing on cognitive appraisal and behavior in populations that have less prior awareness of their risk.

These populations may have very different emotional responses and cognitive appraisals of their risk status than the highly aware populations studied so far. Based on the evidence to date, however, there is cause for cautious optimism that if attention is paid to providing high- quality information and support to at-risk families the potential medical benefits of genetic testing can be realized without causing emotional or behavioral harm.