Emotional Impact of Genetic Testing

Given the justifiable concern that finding out one has a high risk of developing a serious genetic disease may prove to be a huge burden, it is unsurprising that the most widely investigated issue over the past 20 or so years has been the emotional impact of receiving genetic test results. The original studies continue to report the long-term emotional effects of testing, and more studies are needed as new genetic testing procedures for various diseases are implemented.

As already discussed, having an uninformative genetic test result for Huntington disease (along with declining the genetic testing) was found to be more distressing than receiving a positive result. An uninformative genetic test result is one in which it is not possible to definitively state whether or not the individual is a carrier of a deleterious mutation. In this study, the higher distress of those receiving uninformative results was quite possibly due to the motivation for testing.

Many people who seek predictive genetic testing do so hoping to resolve the uncertainty they have been living with, and uninformative results fail to help them achieve this goal. Most studies, however, report the impact of positive and negative genetic test results and these are considered next.

Negative Genetic Test Results. As might be expected, across different genetic tests, a consistent finding is that immediately after individuals learn they do not have the predisposing gene they experience psychological relief. Thus levels of anxiety, depression, distress, and illness-specific measures of distress typically drop to significantly lower levels than they were at the time when baseline assessments were made.

Some studies find that these lower levels of psychological stress are maintained over the coming months and years, whereas other studies find that the level of stress slowly rises back to the baseline level. This latter finding may well be explained by the fact that the threat of disease is but one of the problems that individuals face.

Despite the relief invoked by not being a carrier of the disease-causing gene, other problems remain unresolved and quickly start to impinge on the individuals’ emotional state. In addition, these people come from families affected by serious diseases and still need to cope with this situation and, possibly, the feelings of guilt that others are affected when they are not.

A consistent finding across studies is that distress prior to testing is the biggest predictor of distress after testing, regardless of the test result. A positive effect on the mean stress levels in individuals who receive a negative test result can hide the fact that some individuals have problems coping with testing negative for the gene.

These people may have lived their lives and made important decisions (such as not having children) on the basis of their expectation of developing the disease in the future. Almqvist and colleagues recently reported that one person who tested negative for the gene for Huntington disease attempted suicide on the day he received the test result. Therefore, it is important that it not be assumed that all patients who receive negative genetic test results do not require additional support and counseling.

Positive Genetic Test Results. Some studies found that, immediately after receiving positive genetic results, people’s levels of distress are no different than their baseline levels. Other studies found increased levels of distress in this group. An unexpected and important finding is that any increased distress is usually transitory.

As early as 1 month and for at least 1 year after being given this bad news, the levels of distress are consistently no different to those reported for the baseline levels. In some studies, the levels of distress up to 1 year later are no different than the levels reported by those receiving negative test results. As with the finding for negative test results, a concentration on the mean scores can hide the fact that some individuals do experience great and long-term difficulties coming to terms with the information that they are at high risk of developing a serious disease.

There is a need to ensure that these individuals, in particular, receive appropriate support in the months and years following the receipt of genetic test results. Because distress prior to testing predicts distress following testing, the process of identifying potentially vulnerable individuals can be put in place as soon as they come forward for testing.

Huntington disease was the first disease for which a predictive genetic test was developed, and these studies were also the first to report the results of long-term psychological evaluations. These are crucial because they show whether those who receive positive genetic tests start to experience greater distress when they approach the time when they can expect to develop symptoms.

In 2003, Almqvist and colleagues reported that for those who carry the gene for Huntington disease the levels of distress, which were reduced soon after testing and up to 2 years later, had increased at the 5-year assessment.

However, this increase was no higher than the baseline levels of distress. Although some participants did report distress levels in the clinical range, the mean scores were below the clinical cut-off at all the times measured. Therefore, there are reasons to be optimistic that, for the majority of people, genetic testing does not result in psychological harm.

Many authors have noted that there are a variety of explanations to account for the finding that positive test results do not, on the whole, lead to long-term emotional difficulties. Most of the people undergoing predictive genetic testing have lived most of their lives with the knowledge that their family members are affected by this disease and that they are at risk.

Thus, many enter genetic testing programs with the hope of resolving uncertainty about their own risk status and that of their relatives. In many contexts, living with uncertainty can be more stressful than certainty. In addition, only a proportion of those who are at risk decide to have genetic tests, and, as stated previously, these are typically those who feel they can cope with the results.

Finally, many of the genetic testing programs evaluated to date have at their core the provision of excellent information and counseling, and this will make no small contribution to the psychological well-being of recipients of genetic testing. There is a need to ensure that, when genetic testing is expanded to other clinical environments and other diseases for which people may have less awareness of their own risk, it is still accompanied by the provision of high-quality information and support.