Psychological aspects of genetic counselling: A review of the experience with Huntington's disease

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Abstract

Presymptomatic DNA-testing for adult-onset diseases has serious psychological consequences. Here the psychological consequences of presymptomatic DNA-testing for Huntington's disease are reviewed. Both carriers and non-carriers experience emotional reactions after disclosure of their test result. However, up to today no long-term adverse emotional consequences have been revealed. Future research on other adult-onset genetic diseases should provide information about the reactions of children. In genetic counselling, attention should be paid to the reactions of people with a decreased risk. Genetic counselling must focus on the whole family and not on the individual applicant.

Introduction

Genetic counselling concerns the process of providing information about the risk of getting a certain disease or the risk of getting a child with a certain disease. Initially, in genetic counselling the medical facts were considered more important than the psychological impact of information communicated to the patient. More recently, genetic counselling has changed from a content-oriented approach to a more person-oriented approach [1]. Because of this change, more attention has been paid to the psychological reactions of applicants for genetic testing. Attention to these psychological consequences had become even more important since the introduction of presymptomatic DNA-testing (PDT: testing whether people, known to have a certain disease in the family for which the gene causing the disease had been discovered, but not showing any signs of that disease, carry the gene) has become possible. PDT can have a positive function: by helping people prepare for the imminent future, it can prevent the development of emotional problems. However, PDT can also have negative consequences: people diagnosed as carriers may be stigmatised: their limitations may be more emphasized than their capacities, giving people an extra disadvantage [2]. This trend may promote suicide in those with the affected gene. It is therefore important that the psychological consequences of PDT are reviewed.

The first disease for which PDT became available was Huntington's disease (HD). Huntington's disease is an autosomal dominant heritable, irreversible, neurodegenerative disorder, characterized by involuntary movements, changes in behaviour and personality and cognitive impairment 3, 4.

The aim of the present review is (1) to describe the psychological consequences of PDT for HD and (2) to point out areas on which more information is needed.

First we give methodological information on the studies reviewed. Then we review studies on the attitude of potential applicants towards PDT before they actually applied for it. Thereafter, we turn to studies on the psychological consequences of actual applicants for PDT for HD. Furthermore we review the findings on child-bearing decisions and consequences of PDT for family members. Finally we point out directions for further research.

The term `at-risk' is used when we write about applicants before disclosure of the test result, the terms `carrier' and `non-carrier' are used when we write about applicants after disclosure of the test.

Studies for this review were retrieved using Medline and the reference lists of the studies thus found. Since PDT became available only recently, we used all the studies we found.

Section snippets

Methodological aspects

Methodological aspects of the studies are summarized in Table 1.

From Table 1, it appears that 14 studies concern the psychological reactions of applicants for PDT, while 4 studies concern the attitude toward PDT before people actually applied for it. It also shows that the availability of PDT has raised a lot of discussion. Of the studies reviewed, 11 describe the testing protocol, or comment on the results, or discuss the implications of PDT.

Next it appears that relatively few studies have

Psychological reactions in studies on the attitude towards PDT

Initially, it was expected among professionals that only an unfavourable outcome of PDT for HD would provoke significant adverse emotional reactions, such as depression and anxiety. With the exception of survivor guilt (feeling guilty for not having inherited the HD gene, while others family members have) no adverse psychological reactions were expected in non-carriers 14, 24.

Potential applicants expected that they would experience emotional difficulties should it be proved they were a carrier

Psychological reactions of actual applicants for PDT

The results of several studies into the psychosocial sequellae of actual applicants for PDT indicate that almost every person identified as a carrier does experience short term emotional reactions after the disclosure of his or her genetic status 8, 15, 25, 29, 31. These reactions range from numbness, sadness, depression and anxiety, to anger. However, these reactions only last for a relatively short period of time. Most people managed to return to normal levels of anxiety and depression within

Testing and procreation

Childbearing decisions were for 20 to 25% of the applicants the major motive for taking the test 5, 15. Tibben [31]found that childbearing decisions were among the reasons for taking the test in 60% of the cases. According to Kessler [38]genetic counselling may reinforce an already existing reproductive decision rather than `shape' this decision. Several authors indicate that about three-quarters of the applicants would terminate a pregnancy were the fetus found to carry the gene 5, 9.

Consequences for the family

According to Chapman [10]the family rather than the individual should be counselled in PDT.

In families, problems may arise when people do not properly understand the rules of inheritance and the fact that risks for siblings are independent. Some people think their personal risk is greater when a sib is not affected and therefore blame their healthy brother or sister for increasing their risk [16]. Some parents believe that when one child is carrier, the other child will not get the disease and

Methodological aspects

Because the study of psychological consequences of PDT is a new field, there are no validated instruments specifically constructed for this particular subject. Therefore, many studies have used ad hoc questionnaires. Although the results of these instruments may be valid, their generalizability remains questionable. Fortunately, recently results of PDT for other diseases are being published (e.g. multiple endocrine neoplasia [39], breast cancer [40]).

Psychological sequelae

Up to the present, no severe long term

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