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Psychological consequences of presymptomatic testing for Huntington's disease
THE LANCET
Psychological consequences of presymptomatic testing for Huntington’s disease SIR—Bundley (Jan 4, p 4)1 points out that surprisingly few adverse outcomes were found in a group of people at risk of Huntington’s disease whose genetic status was found to be favourable. She suggests that the probable explanations for this finding were the psychological robustness of those who chose to take the test and the careful protocols followed. During my involvement in the psychiatric assessments of people undergoing counselling as part of presymptomatic genetic testing for Huntington’s disease in Leicestershire Clinical Genetics Centre, I have assessed 20 patients, five of whom had a positive status—ie, they had inherited the gene for this disease.2 Individuals who request the test usually seem to be determined to have it and regard it as their right to know their genetic status. Furthermore, most patients believe that their psychological defences and existing support system are strong enough to enable them to cope with even the worst outcome. Such selfevaluation might be distorted by the patient’s strong desire to have the test. In my experience, in a group of people who had a negative (favourable) result, at least one man admitted that at the time of pretest counselling he had chosen not to disclose his suicidal intent in the event of a positive test result, and preferred to present himself as a robust individual at the time of testing. Among the five individuals with a positive result, their outcomes indicate that some of them experience severe psychological disturbance, with important adverse implications for their personal or marital relationships and occupational life. Two women developed severe depressive disorders: one woman was admitted to hospital and the other developed suicidal intent. Both women’s personal relationships broke down and they lost their jobs. It is noteworthy that most people who requested the test for Huntington’s disease were already in well-established relationships and had children. Lipe and colleagues 3 report that such factors as being unmarried and having no children were associated with higher risk of suicide in individuals with Huntington’s disease. The demographic characteristics of individuals who request genetic tests are likely to change. They may be younger than present candidates and
808
childless, at a stage when they still have to make crucial decisions about their personal choices in life. The effect of a positive genetic status on an individual’s subsequent mental health should not be underestimated. The needs of such individuals have to be met in the context of a long-term support system that extends beyond the presymptomatic counselling provided by existing programmes. Anna Mlynik-Szmid Department of Psychiatry, Branden Mental Health Unit, Leicester General Hospital, Leicester LE5 4PW, UK
1
2
3
Bundley S. Few psychological consequences of presymptomatic testing for Huntington disease. Lancet 1997; 349: 4. Mlynik-Szmid A. Psychological aspects of genetic testing for Huntington disease. Leicester: Leicestershire Clinical Genetics Centre, internal manuscript, 1996. Lipe H, Schultz A, Bird TD, et al. Risk factors for suicide in HD, a retrospective case controlled study. Am J Med Genet 1993; 48: 231–33.
SIR—According to Bundey, 1 20% of relatives at 1-in-2 risk of inheriting Huntington’s disease “now accept the offer of presymptomatic testing”. Apart from genetic centres that use genetic registers to contact all at-risk individuals about the predictive test, the initiative for genetic testing stems from the individual. Therefore, the uptake for predictive testing can only be estimated, and in most countries it seems to be much lower than 20%. Bundey attributes the scarcity of adverse psychological effects among individuals who are identified as carriers of the Huntington’s disease mutation to the careful protocols followed and to the robustness of those who chose to take the test. Indeed, several groups with an adequate multidisciplinary approach to predictive testing have reported similar findings.2 Predictive testing without a strict protocol has not been documented, so that a rigorous comparison is impossible. Follow-up data from 93% of all individuals tested at our centre showed that there was no significant change in mean general anxiety or depression among carriers 1 year after the test. For non-carriers, a significant decrease in anxiety and depression was observed. Furthermore, we found that a pretest psychometric assessment predicted psychological adaptation 1 year after the test: about a third of the variance in anxiety and depression was explained. Our findings also suggest that other factors are involved. For example, individuals who feel paralysed by their genetic risk and who believe that a favourable test result
would free them from all worries, are especially vulnerable and should receive extra attention, because, as Wexler3 states “a test result can act like dynamite to get people moving, but counselling or therapy can also have the same effect, perhaps in a more lasting way”. Pretest counselling should address the individual’s anxieties and difficulties, so that unexpected drawbacks arising from non-carrier identity can be anticipated. Previous studies2 have shown that self-selection may explain why predictive testing for Huntington disease is a success story. Kessler4 suggested that the arduous testing protocols may discourage all but the most motivated of potential test applicants. Nevertheless, a subgroup of people at risk of Huntington’s disease coped well with their increased genetic risk and, for them, deciding not to have a predictive test was an adequate option. Indeed, Decruyenaere and colleagues’ mailedquestionnaire study among nonaffected siblings of individuals who had the test showed no significant difference in general anxiety, coping strategies, and psychological strength between test applicants and their siblings (unpublished results). However, that study also revealed that there were strong anxieties, even a taboo, about genetic risk and predictive testing in many families. Assessments of the psychosocial effect of predictive testing are hopeful. However, long-term studies are needed because Huntington’s disease is commonly used as a model for predictive testing for other late-onset diseases. We thank the other members of the multidisciplinary team for predictive testing for Huntington disease, and Andrea Boogaerts, Trees Cloostermans, Jean-Jacques Cassiman, and René Dom for their contributions.
*Gerry Evers-Kiebooms, Marleen Decruyenaere, Jean-Pierre Fryns, Koen Demyttenaere *Centre for Human Genetics, and Departments of Psychiatry and Neurology, University Hospital Gasthuisberg, B-3000 Leuven, Belgium
1
2
3
4
Bundey S. Few psychological consequences of presymptomatic testing for Huntington disease. Lancet 1997; 349: 4. Decruyenaere M, Evers-Kiebooms G, Boogaerts A, et al. Prediction of psychological functioning one year after the predictive test for Huntington’s disease and impact of the test result on reproductive decision making. J Med Genet 1996; 33: 737–43. Wexler N. The Tiresias complex: Huntington’s disease as a paradigm of testing for late-onset disorders. FASEB J 1992; 6: 2820–25. Kessler S. Predictive testing for Huntington’s disease: a psychologist’s view. Am J Med Genet 1994; 54: 161–66.
Vol 349 • March 15, 1997
Psychological consequences of presymptomatic testing for Huntington’s disease SIR—Bundley (Jan 4, p 4)1 points out that surprisingly few adverse outcomes were found in a group of people at risk of Huntington’s disease whose genetic status was found to be favourable. She suggests that the probable explanations for this finding were the psychological robustness of those who chose to take the test and the careful protocols followed. During my involvement in the psychiatric assessments of people undergoing counselling as part of presymptomatic genetic testing for Huntington’s disease in Leicestershire Clinical Genetics Centre, I have assessed 20 patients, five of whom had a positive status—ie, they had inherited the gene for this disease.2 Individuals who request the test usually seem to be determined to have it and regard it as their right to know their genetic status. Furthermore, most patients believe that their psychological defences and existing support system are strong enough to enable them to cope with even the worst outcome. Such selfevaluation might be distorted by the patient’s strong desire to have the test. In my experience, in a group of people who had a negative (favourable) result, at least one man admitted that at the time of pretest counselling he had chosen not to disclose his suicidal intent in the event of a positive test result, and preferred to present himself as a robust individual at the time of testing. Among the five individuals with a positive result, their outcomes indicate that some of them experience severe psychological disturbance, with important adverse implications for their personal or marital relationships and occupational life. Two women developed severe depressive disorders: one woman was admitted to hospital and the other developed suicidal intent. Both women’s personal relationships broke down and they lost their jobs. It is noteworthy that most people who requested the test for Huntington’s disease were already in well-established relationships and had children. Lipe and colleagues 3 report that such factors as being unmarried and having no children were associated with higher risk of suicide in individuals with Huntington’s disease. The demographic characteristics of individuals who request genetic tests are likely to change. They may be younger than present candidates and
808
childless, at a stage when they still have to make crucial decisions about their personal choices in life. The effect of a positive genetic status on an individual’s subsequent mental health should not be underestimated. The needs of such individuals have to be met in the context of a long-term support system that extends beyond the presymptomatic counselling provided by existing programmes. Anna Mlynik-Szmid Department of Psychiatry, Branden Mental Health Unit, Leicester General Hospital, Leicester LE5 4PW, UK
1
2
3
Bundley S. Few psychological consequences of presymptomatic testing for Huntington disease. Lancet 1997; 349: 4. Mlynik-Szmid A. Psychological aspects of genetic testing for Huntington disease. Leicester: Leicestershire Clinical Genetics Centre, internal manuscript, 1996. Lipe H, Schultz A, Bird TD, et al. Risk factors for suicide in HD, a retrospective case controlled study. Am J Med Genet 1993; 48: 231–33.
SIR—According to Bundey, 1 20% of relatives at 1-in-2 risk of inheriting Huntington’s disease “now accept the offer of presymptomatic testing”. Apart from genetic centres that use genetic registers to contact all at-risk individuals about the predictive test, the initiative for genetic testing stems from the individual. Therefore, the uptake for predictive testing can only be estimated, and in most countries it seems to be much lower than 20%. Bundey attributes the scarcity of adverse psychological effects among individuals who are identified as carriers of the Huntington’s disease mutation to the careful protocols followed and to the robustness of those who chose to take the test. Indeed, several groups with an adequate multidisciplinary approach to predictive testing have reported similar findings.2 Predictive testing without a strict protocol has not been documented, so that a rigorous comparison is impossible. Follow-up data from 93% of all individuals tested at our centre showed that there was no significant change in mean general anxiety or depression among carriers 1 year after the test. For non-carriers, a significant decrease in anxiety and depression was observed. Furthermore, we found that a pretest psychometric assessment predicted psychological adaptation 1 year after the test: about a third of the variance in anxiety and depression was explained. Our findings also suggest that other factors are involved. For example, individuals who feel paralysed by their genetic risk and who believe that a favourable test result
would free them from all worries, are especially vulnerable and should receive extra attention, because, as Wexler3 states “a test result can act like dynamite to get people moving, but counselling or therapy can also have the same effect, perhaps in a more lasting way”. Pretest counselling should address the individual’s anxieties and difficulties, so that unexpected drawbacks arising from non-carrier identity can be anticipated. Previous studies2 have shown that self-selection may explain why predictive testing for Huntington disease is a success story. Kessler4 suggested that the arduous testing protocols may discourage all but the most motivated of potential test applicants. Nevertheless, a subgroup of people at risk of Huntington’s disease coped well with their increased genetic risk and, for them, deciding not to have a predictive test was an adequate option. Indeed, Decruyenaere and colleagues’ mailedquestionnaire study among nonaffected siblings of individuals who had the test showed no significant difference in general anxiety, coping strategies, and psychological strength between test applicants and their siblings (unpublished results). However, that study also revealed that there were strong anxieties, even a taboo, about genetic risk and predictive testing in many families. Assessments of the psychosocial effect of predictive testing are hopeful. However, long-term studies are needed because Huntington’s disease is commonly used as a model for predictive testing for other late-onset diseases. We thank the other members of the multidisciplinary team for predictive testing for Huntington disease, and Andrea Boogaerts, Trees Cloostermans, Jean-Jacques Cassiman, and René Dom for their contributions.
*Gerry Evers-Kiebooms, Marleen Decruyenaere, Jean-Pierre Fryns, Koen Demyttenaere *Centre for Human Genetics, and Departments of Psychiatry and Neurology, University Hospital Gasthuisberg, B-3000 Leuven, Belgium
1
2
3
4
Bundey S. Few psychological consequences of presymptomatic testing for Huntington disease. Lancet 1997; 349: 4. Decruyenaere M, Evers-Kiebooms G, Boogaerts A, et al. Prediction of psychological functioning one year after the predictive test for Huntington’s disease and impact of the test result on reproductive decision making. J Med Genet 1996; 33: 737–43. Wexler N. The Tiresias complex: Huntington’s disease as a paradigm of testing for late-onset disorders. FASEB J 1992; 6: 2820–25. Kessler S. Predictive testing for Huntington’s disease: a psychologist’s view. Am J Med Genet 1994; 54: 161–66.
Vol 349 • March 15, 1997