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Marleen Decruyenaere - One of the best experts on this subject based on the ideXlab platform.
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A theoretical psychological perspective on Predictive Testing for late onset hereditary diseases.
Genetic counseling (Geneva Switzerland), 2007Co-Authors: E. Mularczyk, Marleen Decruyenaere, Lieve Denayer, Gerry Evers-kieboomsAbstract:Summary: A theoretical psychological perspective on Predictive Testing for late onset hereditary diseases: Because of the burden of serious late onset hereditary diseases, psychological counselling is commonly included in the Predictive Testing procedure. We discuss the components of psychological counselling in the context of neurodegenerative disorders such as Huntington's disease, some hereditary cancers and some hereditary heart diseases. Psychological counselling should be tailored to the specific characteristics of the disease: penetrance and expression of the mutation, variability of the age at onset and efficacy of prevention and treatment, if available. Finally theories that have already been used for the psychological framing of counselling in the context of Predictive Testing or to formulate research hypotheses (e.g. Transactional Model of Stress and Coping, Common Sense Model of Self-regulation) are discussed. Key-words: Psychological counseling - Predictive Testing - Hereditary late onset diseases INTRODUCTION The aim of the paper is to consider the relevance of various psychological theories to the counselling and research in the context of Predictive Testing for late onset hereditary diseases. First we address the topic of uncertainty before and after Predictive Testing. Thereafter components of counselling for Predictive Testing are described. Theories that have already been used for the psychological framing of counselling in the context of Predictive Testing or to formulate research hypotheses and also possibilities for future developments are discussed in the last part. UNCERTAINTY AND Predictive Testing The role of genes in the causation of diseases has a broad variability (34). In fact reality is a continuum that ranges from diseases caused by a mutation in one gene such as Huntington's disease (HD) up to diseases in which a genetic influence seems to be irrelevant. Between these extremes there are for example diseases in which one mutation has a major contribution and largely increases the risk of developing the condition as in some of the hereditary cancers and hereditary heart diseases, or multifactorial diseases for which genetic factors play a part in interaction with environmental factors as in coronary heart diseases. Having a family history with hereditary disease means living with a burdensome life uncertainty. Predictive Testing for autosomal dominant late onset diseases detects whether the pathogenic mutation is present or not and enables to anticipate future specific health risk of an individual with a considerable scientific confidence. It is available for three groups of autosomal dominant late onset hereditary diseases: (a) neurodegenerative diseases such as Huntington's disease, (b) hereditary cancers e.g. hereditary breast and ovarian cancer (HBOC) caused by a mutation in BRCA1/2 and hereditary non-polyposis colorectal cancer (HNPCC), and (c) hereditary heart diseases e.g. hereditary cardiac arrhythmias such as Long QT syndrome (LQTS) and Brugada syndrome as well as hereditary cardiomyophathies such as hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy. Predictive Testing reduces the uncertainty of the tested person. On average half of the testees with a parent who has the pathogenic mutation will be informed that they will not get (the hereditary form of) the disease in the future and that there is no risk that their offspring has or will have the mutation. This reassurance is very important. However a lot of uncertainties remain for the carriers of the pathogenic mutation because of the variable age at onset, the variable expression of the mutation or the uncertain efficacy of prevention and treatment, if available. An additional source of uncertainty is the reduced penetrance defined as the percentage of persons with pathogenic mutation who will become affected in the future. Even if the penetrance is 100%, years or decades may pass before the onset of the disease. …
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Surveillance behavior and prophylactic surgery after Predictive Testing for hereditary breast/ovarian cancer.
Behavioral medicine (Washington D.C.), 2005Co-Authors: Erna Claes, Marleen Decruyenaere, Andrea Boogaerts, Lieve Denayer, K Philippe, Gerry Evers-kiebooms, Eric LegiusAbstract:This article describes breast or ovarian cancer surveillance practices and prophylactic surgery involving 34 carriers and 34 noncarriers of a BRCA1/2 mutation within the year after Predictive Testing. It also evaluates the effect of the Predictive test result on cancer screening practices and provides insight into factors important in the decision-making process about health-related behavior. Within the year following Predictive Testing, 9% (3 of 34) of the carriers decided to have a prophylactic mastectomy. The majority of the carriers was adherent to recommendations regarding regular cancer surveillance following Predictive Testing. Furthermore, carriers' adherence to clinical breast examination and mammography recommendations significantly increased from pre- to posttest and was significantly higher than noncarriers' utilization after Testing. Of the carriers eligible for prophylactic salpingo-oophorectomy, 75% had this operation. All carriers who were advised to have regular surveillance of the ovarie...
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psychological distress in the 5 year period after Predictive Testing for huntington s disease
European Journal of Human Genetics, 2003Co-Authors: Marleen Decruyenaere, Gerry Everskiebooms, Andrea Boogaerts, T Cloostermans, Koen Demyttenaere, Jean-pierre FrynsAbstract:The paper reports on a 5-year longitudinal study on psychological distress after Predictive Testing for Huntington's disease (HD) and on correlates of post-test distress. Psychometric tests and questionnaires were used. The tested persons were invited to participate in the follow-up study; the uptake rate was 75% (24 carriers, 33 non-carriers). Three time points were included: baseline, 1 year and 5 years post-test. Five years after the test, mean distress scores of both carriers and non-carriers were within the normal range. Carriers did not differ from non-carriers with regard to mean general distress. Compared to non-carriers, however, carriers had significantly less positive feelings (P<0.001) and were more consciously avoiding HD-related situations and thoughts (P<0.01). These findings reflect the carriers' conscious and unconscious attempt to escape from pessimism and to minimise negative consequences of the test result. Psychological distress 5 years post-test was significantly associated with ego-strength (P<0.05 to P<0.001). Except for intrusion and avoidance, distress was also associated with test motivation (P<0.05 to P<0.01). Compared with baseline level, mean depression, general and specific anxiety had significantly decreased 1 year and 5 years post-test (P<0.05 to 0.01). This evolution was independent of the test result. However, based on test motivation, a subgroup of tested persons having long lasting psychological distress could be identified, also irrespective of test result. Persons who asked the test to get rid of the uncertainty, without being able to specify implications for substantial life areas, had more psychological distress before and after the test than those who wanted the test for specific reasons (P<0.001 to P<0.0001). Moreover, the pattern of post-test anxiety differed over time, depending on the test motivation (P<0.05). The findings suggest that pre- and post-test counselling should pay special attention to persons with lower ego-strength and with an unspecified test motivation, because they are at higher risk for long-term psychological distress, independently of the test result.
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Predictive Testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling
European journal of human genetics : EJHG, 2000Co-Authors: Marleen Decruyenaere, Lieve Denayer, Eric Legius, Gerry Evers-kiebooms, Erna Claes, Myriam Welkenhuysen, Koen DemyttenaereAbstract:Since the identification of two breast–ovarian cancer susceptibility genes (BRCA1/2), Predictive Testing for hereditary breast/ovarian cancer (HBOC) has been available. Given the complexity and uncertainties of HBOC and the potential impact of Predictive Testing on psychological well-being, we offer the test applicants a combination of information-oriented and psychological counselling. In this paper, we describe the multidisciplinary approach for Predictive Testing for HBOC as a clinical service in Leuven, hereby focusing on psychological and decision counselling practice. Attention is paid to the theoretical framework used for pre-test psychological counselling in Leuven. We discuss three important interacting dimensions of psychological counselling: individual emotional support, decision counselling and support of the family communication process. Decision counselling consists of an evaluation of the cognitive and the emotional processing of the information given and strategies and resources for coping. This serves as a starting point to facilitate free informed decision making. Scenario development is used as a decision aid.
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psychological functioning before Predictive Testing for huntington s disease the role of the parental disease risk perception and subjective proximity of the disease
Journal of Medical Genetics, 1999Co-Authors: Marleen Decruyenaere, Gerry Everskiebooms, Andrea Boogaerts, Jean Jacques Cassiman, T Cloostermans, Koen DemyttenaereAbstract:BACKGROUND: Psychometric Testing of participants in Predictive DNA Testing for Huntington's disease (HD) has shown that 15% of the subjects at risk for HD had at least mild depression or a high score for general anxiety or both in the pre-test period. The main aim of the study was the delineation of variables associated with pre-test distress of applicants for Predictive Testing for HD. Based on theoretical considerations, four specific hypotheses were tested regarding the role of (1) the test participant's age at the (perceived) parental onset of HD, (2) the affected parent's sex, (3) the perception of the risk for HD, and (4) the subjective proximity of the disease. Secondly, these four variables were used in multiple regression analyses to select the best predictors of pre- and post-test psychological functioning (one year after the test). Increasing the understanding of pre- and post-test distress is important for developing better counselling and support strategies for test applicants. METHODS: Data were collected by means of clinical interviews and psychometric questionnaires during the pre- and post-test (one year after the test) counselling sessions for Predictive Testing for HD. RESULTS: We found significant associations of the participant's age at the parental onset, the subjective proximity of the disease onset, and the perceived risk with pre-test psychometric measures of psychological functioning. Multiple regression analyses showed that the best predictors of pre-test functioning were the perceived proximity of the disease onset and its interaction with risk perception. Regarding post-test functioning, none of the proposed variables had a unique contribution beyond that accounted for by pre-test psychological functioning. CONCLUSIONS: Test participants who are close to the perceived age of onset of HD and who have a pessimistic risk perception should be given special attention during pre-test counselling because of their possible negative affective condition at that time. Pre-test psychological measures were the best predictors of post-test distress, irrespective of the test result. Suggestions for future longitudinal research are formulated. This kind of research should enable clinical geneticists and mental health professionals to refine the pre- and post-test counselling strategies for Predictive DNA Testing, not only for HD, but also for other incurable late onset disorders.
Zosia Miedzybrodzka - One of the best experts on this subject based on the ideXlab platform.
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Predictive Testing of Minors for Huntington's Disease: The UK and Netherlands Experiences
American journal of medical genetics. Part B Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2017Co-Authors: Oliver W Quarrell, Rhona Macleod, Zosia Miedzybrodzka, Angus John Clarke, Cecilia Compton, Christine E. M. De Die-smulders, Alan Fryer, Sian Jenkins, Nayana Lahiri, Patrick J. MorrisonAbstract:A consistent feature of Predictive Testing guidelines for Huntington's disease (HD) is the recommendation not to undertake Predictive tests on those
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22 Years of Predictive Testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium
European Journal of Human Genetics, 2016Co-Authors: Sheharyar S Baig, Zosia Miedzybrodzka, David Craufurd, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Angus Clarke, Oliver W QuarrellAbstract:Huntington’s disease (HD) is a progressive neurodegenerative condition. At-risk individuals have accessed Predictive Testing via direct mutation Testing since 1993. The UK Huntington’s Prediction Consortium has collected anonymised data on UK Predictive tests, annually, from 1993 to 2014: 9407 Predictive tests were performed across 23 UK centres. Where gender was recorded, 4077 participants were male (44.3%) and 5122 were female (55.7%). The median age of participants was 37 years. The most common reason for Predictive Testing was to reduce uncertainty (70.5%). Of the 8441 Predictive tests on individuals at 50% prior risk, 4629 (54.8%) were reported as mutation negative and 3790 (44.9%) were mutation positive, with 22 (0.3%) in the database being uninterpretable. Using a prevalence figure of 12.3 × 10^−5, the cumulative uptake of Predictive Testing in the 50% at-risk UK population from 1994 to 2014 was estimated at 17.4% (95% CI: 16.9–18.0%). We present the largest study conducted on Predictive Testing in HD. Our findings indicate that the vast majority of individuals at risk of HD (>80%) have not undergone Predictive Testing. Future therapies in HD will likely target presymptomatic individuals; therefore, identifying the at-risk population whose gene status is unknown is of significant public health value.
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J2 Predictive Testing for huntington’s disease (HD) on those under 18 years: the UK experience 1994–2015
Journal of Neurology Neurosurgery & Psychiatry, 2016Co-Authors: Oliver Quarrell, Zosia Miedzybrodzka, Alan Fryer, Sian Jenkins, Nayana Lahiri, Rachael Cann, Mary O'driscoll, Celia Compton, Hannah Musgrave, Angus John ClarkeAbstract:Background A consistent feature of Predictive Testing guidelines for HD has been recommendations not to undertake Predictive tests on those Aims To identify the extent of Predictive Testing on minors between 1994–2015 and, where possible, identify the reasons for undertaking the Predictive test on a minor. Methods The UKHPC database was inspected for the number of Predictive tests on those Results There were 9616 tests on the database with 9466 having an age of Testing recorded. 63 tests were reported on those Conclusion This study documents the extent of HD Testing of minors in the UK and suggests that, in general, the recommendations are working. Exceptions are being made and we provide some empirical evidence as to reasons why clinicians have chosen to depart from the recommendation not to test minors. We do not advise changing the recommendation but suggest that Testing of minors continues to be monitored.
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22 years of Predictive Testing for huntington s disease the experience of the uk huntington s prediction consortium
European Journal of Human Genetics, 2016Co-Authors: Sheharyar Baig, Zosia Miedzybrodzka, Angus John Clarke, David Craufurd, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Oliver QuarrellAbstract:Huntington’s disease (HD) is a progressive neurodegenerative condition. At-risk individuals have accessed Predictive Testing via direct mutation Testing since 1993. The UK Huntington’s Prediction Consortium has collected anonymised data on UK Predictive tests, annually, from 1993 to 2014: 9407 Predictive tests were performed across 23 UK centres. Where gender was recorded, 4077 participants were male (44.3%) and 5122 were female (55.7%). The median age of participants was 37 years. The most common reason for Predictive Testing was to reduce uncertainty (70.5%). Of the 8441 Predictive tests on individuals at 50% prior risk, 4629 (54.8%) were reported as mutation negative and 3790 (44.9%) were mutation positive, with 22 (0.3%) in the database being uninterpretable. Using a prevalence figure of 12.3 × 10−5, the cumulative uptake of Predictive Testing in the 50% at-risk UK population from 1994 to 2014 was estimated at 17.4% (95% CI: 16.9–18.0%). We present the largest study conducted on Predictive Testing in HD. Our findings indicate that the vast majority of individuals at risk of HD (>80%) have not undergone Predictive Testing. Future therapies in HD will likely target presymptomatic individuals; therefore, identifying the at-risk population whose gene status is unknown is of significant public health value.
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K05 Genetic Discrimination and Predictive Testing for Huntington’s Disease and Familial Cancer in Northern Scotland: The I-Respond-UK Study
Journal of Neurology Neurosurgery & Psychiatry, 2014Co-Authors: S. Wedderburn, Janet K. Williams, D. Rae, R. Carey-heaton, Zosia MiedzybrodzkaAbstract:Background In Predictive Testing for HD and familial cancer, potential genetic discrimination is commonly discussed. It is over ten years since experiences of insurance and discrimination issues have been documented in the UK. The insurance industry entered into a voluntary moratorium on use of genetic test information. The i-RESPOND-HD Study reported perceptions, experiences and responses to genetic discrimination of those at risk of HD in the USA, Canada and Australia. Aim To assess current experiences of genetic discrimination in the UK to inform Predictive Testing counselling. Methods The i-RESPOND HD postal questionnaire was adapted for the UK, and for familial cancer. Questionnaires were sent to 131 from North Scotland. Results 43 individuals responded. 55% positive for the HD gene; 19% for a cancer gene. None reported specific discrimination events. Both those at risk of HD (72%) and cancer (34%) reported they would actively avoid insurance discrimination. 55% and 23% respectively reported that they would actively avoid employment and other forms of genetic discrimination. The majority were unaware of current relevant laws. Only 9% of at risk HD and 3.2% of those at risk of cancer had sought external advice on genetic discrimination. Conclusions In the UK, those at risk of HD and familial cancer actively seek to avoid genetic discrimination in insurance and elsewhere, but actual discrimination is uncommon. In contrast in the 2010 i-RESPOND HD Study in US, Canada and Australia genetic discrimination was reported by 26% in insurance domains and 33% in relationships.
Gerry Evers-kiebooms - One of the best experts on this subject based on the ideXlab platform.
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BRCA1/2 Predictive Testing and gender: uptake, motivation and psychological characteristics.
Genetic counseling (Geneva Switzerland), 2009Co-Authors: Lieve Denayer, Andrea Boogaerts, K Philippe, Eric Legius, Gerry Evers-kieboomsAbstract:Summary: BRCA1/2 Predictive Testing and gender: Uptake, motivation and psychological characteristics: Data on male uptake of BRCA1/2 Predictive Testing and psychological characteristics of males in comparison to females are scarce. We investigated gender differences in the cohort tested at the Center for Human Genetics in Leuven during a 10-year period (1998-2007). Males were significantly older than females. Breast cancer related distress (IES) was significantly lower in men and was not associated with BRCA1 or BRCA2. The groups of both males and females were psychologically stronger than average (SCL-90, UCL) and self-selected. Men were unanimously motivated (personal relevance of 12 motives rated on a Likert scale) by concern for their daughters, and significantly more so than women. One third of them (versus 12% women) referred to child-bearing decisions. Considering all unaffected siblings in the family of origin, uptake of Predictive Testing was significantly higher in females. Moreover, uptake was significantly higher in women belonging to a BRCA2 than to a BRCA1 family. In the descendants of identified carriers, uptake was predicted by gender and age, but not by the parent's gender or by BRCA1 or BRCA2 status. Key-words: BRCA1 - BRCA2 - Gender - Offspring - Predictive Testing - Psychology - Uptake INTRODUCTION Uptake of Predictive Testing in unaffected females belonging to a family with a BRCA1/2 mutation has been widely documented, while far less attention has been given to their male counterparts. In studies on the uptake of BRCA1/2 Predictive Testing, the overall ratio of women to men tested is approximately 3:1 (4). The lower uptake of Predictive Testing in males probably reflects a lower risk perception. Although male BRCAl and BRCA2 carriers are at increased risk especially of cancers of the prostate and breast, the increase in cancer risk is about 5% which is much smaller than the risk increase in females (17). Male carriers are advised to have an annual serum PSA test starting at the age of 50; breast screening is not recommended. Perceived risk, breast cancer related distress, age, presence of children and number of affected first degree relatives have been documented as significant predictors for uptake of Predictive Testing in unaffected women (22). A few studies have focused on the psychological impact of being confronted with the hereditary nature of breast/ovarian cancer in male members of high risk families. The earliest of these studies gave special attention to avoidant Testing behaviour in males (9, 20). Lodder et al. pointed out the low distress levels of males having a Predictive test and warned against identifying low distress with avoidance (18). Studies investigating motives for Predictive Testing have emphasized that males are primarily concerned about their daughters, and less concerned about their own health (7, 16, 18). Hallowell et al. concluded that males respond to a moral imperative to care for their children by gathering information about their own carrier status (13). Statistical comparisons of pre-test characteristics between large groups of at-risk males and females are scarce (12, 16). No studies have been published comparing individuals from BRCAl families to those from BRCA2 families regarding psychological impact of genetic risk or uptake of Predictive Testing. As the mean age of breast cancer diagnosis is much lower in BRCAl families, with a higher risk of metastases (15), it is worthwhile to explore the impact of belonging to a BRCAl versus a BRCA2 family. However, it is very difficult to predict which differences, if any, might be found: a higher cancer burden could increase alertness to genetic risk as well as increase avoidance. The present study targeted all males and females who had BRCA1/2 Predictive Testing in the Center of Human Genetics in Leuven during a 10-year period from the beginning of 1998 to the end of 2007. All study participants were at 50% risk of having inherited a mutation. …
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A theoretical psychological perspective on Predictive Testing for late onset hereditary diseases.
Genetic counseling (Geneva Switzerland), 2007Co-Authors: E. Mularczyk, Marleen Decruyenaere, Lieve Denayer, Gerry Evers-kieboomsAbstract:Summary: A theoretical psychological perspective on Predictive Testing for late onset hereditary diseases: Because of the burden of serious late onset hereditary diseases, psychological counselling is commonly included in the Predictive Testing procedure. We discuss the components of psychological counselling in the context of neurodegenerative disorders such as Huntington's disease, some hereditary cancers and some hereditary heart diseases. Psychological counselling should be tailored to the specific characteristics of the disease: penetrance and expression of the mutation, variability of the age at onset and efficacy of prevention and treatment, if available. Finally theories that have already been used for the psychological framing of counselling in the context of Predictive Testing or to formulate research hypotheses (e.g. Transactional Model of Stress and Coping, Common Sense Model of Self-regulation) are discussed. Key-words: Psychological counseling - Predictive Testing - Hereditary late onset diseases INTRODUCTION The aim of the paper is to consider the relevance of various psychological theories to the counselling and research in the context of Predictive Testing for late onset hereditary diseases. First we address the topic of uncertainty before and after Predictive Testing. Thereafter components of counselling for Predictive Testing are described. Theories that have already been used for the psychological framing of counselling in the context of Predictive Testing or to formulate research hypotheses and also possibilities for future developments are discussed in the last part. UNCERTAINTY AND Predictive Testing The role of genes in the causation of diseases has a broad variability (34). In fact reality is a continuum that ranges from diseases caused by a mutation in one gene such as Huntington's disease (HD) up to diseases in which a genetic influence seems to be irrelevant. Between these extremes there are for example diseases in which one mutation has a major contribution and largely increases the risk of developing the condition as in some of the hereditary cancers and hereditary heart diseases, or multifactorial diseases for which genetic factors play a part in interaction with environmental factors as in coronary heart diseases. Having a family history with hereditary disease means living with a burdensome life uncertainty. Predictive Testing for autosomal dominant late onset diseases detects whether the pathogenic mutation is present or not and enables to anticipate future specific health risk of an individual with a considerable scientific confidence. It is available for three groups of autosomal dominant late onset hereditary diseases: (a) neurodegenerative diseases such as Huntington's disease, (b) hereditary cancers e.g. hereditary breast and ovarian cancer (HBOC) caused by a mutation in BRCA1/2 and hereditary non-polyposis colorectal cancer (HNPCC), and (c) hereditary heart diseases e.g. hereditary cardiac arrhythmias such as Long QT syndrome (LQTS) and Brugada syndrome as well as hereditary cardiomyophathies such as hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy. Predictive Testing reduces the uncertainty of the tested person. On average half of the testees with a parent who has the pathogenic mutation will be informed that they will not get (the hereditary form of) the disease in the future and that there is no risk that their offspring has or will have the mutation. This reassurance is very important. However a lot of uncertainties remain for the carriers of the pathogenic mutation because of the variable age at onset, the variable expression of the mutation or the uncertain efficacy of prevention and treatment, if available. An additional source of uncertainty is the reduced penetrance defined as the percentage of persons with pathogenic mutation who will become affected in the future. Even if the penetrance is 100%, years or decades may pass before the onset of the disease. …
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Surveillance behavior and prophylactic surgery after Predictive Testing for hereditary breast/ovarian cancer.
Behavioral medicine (Washington D.C.), 2005Co-Authors: Erna Claes, Marleen Decruyenaere, Andrea Boogaerts, Lieve Denayer, K Philippe, Gerry Evers-kiebooms, Eric LegiusAbstract:This article describes breast or ovarian cancer surveillance practices and prophylactic surgery involving 34 carriers and 34 noncarriers of a BRCA1/2 mutation within the year after Predictive Testing. It also evaluates the effect of the Predictive test result on cancer screening practices and provides insight into factors important in the decision-making process about health-related behavior. Within the year following Predictive Testing, 9% (3 of 34) of the carriers decided to have a prophylactic mastectomy. The majority of the carriers was adherent to recommendations regarding regular cancer surveillance following Predictive Testing. Furthermore, carriers' adherence to clinical breast examination and mammography recommendations significantly increased from pre- to posttest and was significantly higher than noncarriers' utilization after Testing. Of the carriers eligible for prophylactic salpingo-oophorectomy, 75% had this operation. All carriers who were advised to have regular surveillance of the ovarie...
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Predictive Testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling
European journal of human genetics : EJHG, 2000Co-Authors: Marleen Decruyenaere, Lieve Denayer, Eric Legius, Gerry Evers-kiebooms, Erna Claes, Myriam Welkenhuysen, Koen DemyttenaereAbstract:Since the identification of two breast–ovarian cancer susceptibility genes (BRCA1/2), Predictive Testing for hereditary breast/ovarian cancer (HBOC) has been available. Given the complexity and uncertainties of HBOC and the potential impact of Predictive Testing on psychological well-being, we offer the test applicants a combination of information-oriented and psychological counselling. In this paper, we describe the multidisciplinary approach for Predictive Testing for HBOC as a clinical service in Leuven, hereby focusing on psychological and decision counselling practice. Attention is paid to the theoretical framework used for pre-test psychological counselling in Leuven. We discuss three important interacting dimensions of psychological counselling: individual emotional support, decision counselling and support of the family communication process. Decision counselling consists of an evaluation of the cognitive and the emotional processing of the information given and strategies and resources for coping. This serves as a starting point to facilitate free informed decision making. Scenario development is used as a decision aid.
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Predictive Testing for Huntington's disease: a challenge for persons at risk and for professionals
Patient education and counseling, 1998Co-Authors: Gerry Evers-kiebooms, Marleen DecruyenaereAbstract:About a decade ago the introduction of Predictive Testing for Huntington's disease (HD) was an important milestone in medical history. The aim of the present paper concerning Predictive DNA-Testing for HD is fourfold. First of all it describes the professional challenge of elaborating an adequate test protocol and of permanently using a multidisciplinary approach to deal with Predictive test requests. Secondly the paper is aimed at unraveling the factors that play a part in uptake and decision making regarding Predictive Testing. Hereby the Health Belief Model is used as a framework for understanding differences between tested and untested persons. Thirdly the impact of the test result on psychological well-being is reviewed. Finally this paper assesses the utilisation of prenatal diagnosis after Predictive Testing for HD and reflects on the psychological and ethical implications of different types of prenatal tests, including preimplantation genetic diagnosis.
Koen Demyttenaere - One of the best experts on this subject based on the ideXlab platform.
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psychological distress in the 5 year period after Predictive Testing for huntington s disease
European Journal of Human Genetics, 2003Co-Authors: Marleen Decruyenaere, Gerry Everskiebooms, Andrea Boogaerts, T Cloostermans, Koen Demyttenaere, Jean-pierre FrynsAbstract:The paper reports on a 5-year longitudinal study on psychological distress after Predictive Testing for Huntington's disease (HD) and on correlates of post-test distress. Psychometric tests and questionnaires were used. The tested persons were invited to participate in the follow-up study; the uptake rate was 75% (24 carriers, 33 non-carriers). Three time points were included: baseline, 1 year and 5 years post-test. Five years after the test, mean distress scores of both carriers and non-carriers were within the normal range. Carriers did not differ from non-carriers with regard to mean general distress. Compared to non-carriers, however, carriers had significantly less positive feelings (P<0.001) and were more consciously avoiding HD-related situations and thoughts (P<0.01). These findings reflect the carriers' conscious and unconscious attempt to escape from pessimism and to minimise negative consequences of the test result. Psychological distress 5 years post-test was significantly associated with ego-strength (P<0.05 to P<0.001). Except for intrusion and avoidance, distress was also associated with test motivation (P<0.05 to P<0.01). Compared with baseline level, mean depression, general and specific anxiety had significantly decreased 1 year and 5 years post-test (P<0.05 to 0.01). This evolution was independent of the test result. However, based on test motivation, a subgroup of tested persons having long lasting psychological distress could be identified, also irrespective of test result. Persons who asked the test to get rid of the uncertainty, without being able to specify implications for substantial life areas, had more psychological distress before and after the test than those who wanted the test for specific reasons (P<0.001 to P<0.0001). Moreover, the pattern of post-test anxiety differed over time, depending on the test motivation (P<0.05). The findings suggest that pre- and post-test counselling should pay special attention to persons with lower ego-strength and with an unspecified test motivation, because they are at higher risk for long-term psychological distress, independently of the test result.
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Predictive Testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling
European journal of human genetics : EJHG, 2000Co-Authors: Marleen Decruyenaere, Lieve Denayer, Eric Legius, Gerry Evers-kiebooms, Erna Claes, Myriam Welkenhuysen, Koen DemyttenaereAbstract:Since the identification of two breast–ovarian cancer susceptibility genes (BRCA1/2), Predictive Testing for hereditary breast/ovarian cancer (HBOC) has been available. Given the complexity and uncertainties of HBOC and the potential impact of Predictive Testing on psychological well-being, we offer the test applicants a combination of information-oriented and psychological counselling. In this paper, we describe the multidisciplinary approach for Predictive Testing for HBOC as a clinical service in Leuven, hereby focusing on psychological and decision counselling practice. Attention is paid to the theoretical framework used for pre-test psychological counselling in Leuven. We discuss three important interacting dimensions of psychological counselling: individual emotional support, decision counselling and support of the family communication process. Decision counselling consists of an evaluation of the cognitive and the emotional processing of the information given and strategies and resources for coping. This serves as a starting point to facilitate free informed decision making. Scenario development is used as a decision aid.
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psychological functioning before Predictive Testing for huntington s disease the role of the parental disease risk perception and subjective proximity of the disease
Journal of Medical Genetics, 1999Co-Authors: Marleen Decruyenaere, Gerry Everskiebooms, Andrea Boogaerts, Jean Jacques Cassiman, T Cloostermans, Koen DemyttenaereAbstract:BACKGROUND: Psychometric Testing of participants in Predictive DNA Testing for Huntington's disease (HD) has shown that 15% of the subjects at risk for HD had at least mild depression or a high score for general anxiety or both in the pre-test period. The main aim of the study was the delineation of variables associated with pre-test distress of applicants for Predictive Testing for HD. Based on theoretical considerations, four specific hypotheses were tested regarding the role of (1) the test participant's age at the (perceived) parental onset of HD, (2) the affected parent's sex, (3) the perception of the risk for HD, and (4) the subjective proximity of the disease. Secondly, these four variables were used in multiple regression analyses to select the best predictors of pre- and post-test psychological functioning (one year after the test). Increasing the understanding of pre- and post-test distress is important for developing better counselling and support strategies for test applicants. METHODS: Data were collected by means of clinical interviews and psychometric questionnaires during the pre- and post-test (one year after the test) counselling sessions for Predictive Testing for HD. RESULTS: We found significant associations of the participant's age at the parental onset, the subjective proximity of the disease onset, and the perceived risk with pre-test psychometric measures of psychological functioning. Multiple regression analyses showed that the best predictors of pre-test functioning were the perceived proximity of the disease onset and its interaction with risk perception. Regarding post-test functioning, none of the proposed variables had a unique contribution beyond that accounted for by pre-test psychological functioning. CONCLUSIONS: Test participants who are close to the perceived age of onset of HD and who have a pessimistic risk perception should be given special attention during pre-test counselling because of their possible negative affective condition at that time. Pre-test psychological measures were the best predictors of post-test distress, irrespective of the test result. Suggestions for future longitudinal research are formulated. This kind of research should enable clinical geneticists and mental health professionals to refine the pre- and post-test counselling strategies for Predictive DNA Testing, not only for HD, but also for other incurable late onset disorders.
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Non-Participation in Predictive Testing for Huntington’s Disease: Individual Decision-Making, Personality and Avoidant Behaviour in the Family
European Journal of Human Genetics, 1997Co-Authors: Marleen Decruyenaere, Andrea Boogaerts, Jean Jacques Cassiman, T Cloostermans, Koen Demyttenaere, Gerry Evers-kiebooms, René Dom, Jean-pierre Fryns, Herman Van Den BergheAbstract:Subjective risk perception, perceived impact of Huntington’s disease (HD), perceived benefits and barriers of Predictive Testing and personality characteristics of persons withdrawing from the Predictive test programme for HD and of siblings of test applicants were studied in a mailed survey. The belief that important decisions do not need to depend on a test result and the anticipated inability to cope with a bad result played an important role in the decision not to be tested. Nevertheless half of the group who ever considered Testing, still planned to undergo a test in the future. A comparison of tested and untested persons revealed that the first group is more likely to overestimate the risk than the second group, but that both groups did not significantly differ from each other regarding anxiety, ego strength and coping strategies. An intrafamilial analysis of tested and untested siblings confirmed these findings. The problems during data collection and the reasons for the dropout are an illustration of the avoidant behaviour regarding HD and the Predictive test in many individuals and families.
Michael R. Hayden - One of the best experts on this subject based on the ideXlab platform.
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Lessons from Predictive Testing for Huntington disease: 25 years on
Journal of medical genetics, 2011Co-Authors: Alice K Hawkins, Michael R. HaydenAbstract:The availability of Predictive genetic tests has rapidly expanded in the last two decades. We can now provide Testing for a range of adult onset conditions including certain cancers, cardiac diseases, and neurological disorders. These developments have recognised benefit including determining the necessity of additional screening or preventive options, relieving uncertainty, and reproductive planning. However, despite these benefits, Predictive tests raise challenges regarding the ethical delivery of genetic Testing, results, and services. To respond to these challenges, Predictive Testing protocols, such as those for Huntington disease (HD), have required several in-person appointments, spread over several weeks or months, in order to undergo counselling, Testing, and receive test results.1 Originally, these multi-step, multi-visit protocols were developed to both protect individuals from the potential for serious psychological damage from receiving increased risk results, as well as to ensure that individuals undergoing Testing made a fully considered decision. In addition, incorporating …
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Predictive Testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene.
Clinical genetics, 2003Co-Authors: Ferdinando Squitieri, E. Almqvist, Milena Cannella, Giuliana Cislaghi, Michael R. HaydenAbstract:Predictive Testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene.
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a worldwide assessment of the frequency of suicide suicide attempts or psychiatric hospitalization after Predictive Testing for huntington disease
American Journal of Human Genetics, 1999Co-Authors: E. Almqvist, David Craufurd, Maurice Bloch, Ryan R Brinkman, Michael R. HaydenAbstract:Summary Prior to the implementation of Predictive-Testing programs for Huntington disease (HD), significant concern was raised concerning the likelihood of catastrophic events (CEs), particularly in those persons receiving an increased-risk result. We have investigated the frequency of CEs—that is, suicide, suicide attempt, and psychiatric hospitalization—after an HD Predictive-Testing result, through questionnaires sent to Predictive-Testing centers worldwide. A total of 44 persons (0.97%) in a cohort of 4,527 test participants had a CE: 5 successful suicides, 21 suicide attempts, and 18 hospitalizations for psychiatric reasons. All persons committing suicide had signs of HD, whereas 11 (52.4%) of 21 persons attempting suicide and 8 (44.4%) of 18 who had a psychiatric hospitalization were symptomatic. A total of 11 (84.6%) of 13 asymptomatic persons who experienced a CE during the first year after HD Predictive Testing received an increased-risk result. Factors associated with an increased risk of a CE included ( a ) a psychiatric history ≤5 years prior to Testing and ( b ) unemployed status. The frequency of CEs did not differ between those persons receiving results of Predictive Testing through linkage analysis in whom there was only changes in direction of risk and those persons receiving definitive results after analysis for the mutation underlying HD. These findings provide insights into the frequency, associated factors, and timing of CEs in a worldwide cohort of persons receiving Predictive-Testing results and, as such, highlight persons for whom ongoing support may be beneficial.
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Dilemmas of anonymous Predictive Testing for Huntington disease: privacy vs. optimal care.
American journal of medical genetics, 1997Co-Authors: Michael M. Burgess, Shelin Adam, Maurice Bloch, Michael R. HaydenAbstract:Some persons at risk for Huntington disease (HD) seek Predictive Testing under the protection of anonymity to reduce the risk of insurance discrimination for themselves and their families. While Canadian and European health care systems seem to limit insurance discrimination to life and disability insurance, U.S. residents do not have national health insurance and are concerned about health insurance discrimination. Two persons residing outside Canada requested Predictive Testing anonymously. Their primary reason for doing so was to avoid the risks of medical insurance discrimination. After a detailed preparatory session and agreement to counselling and to receipt of results in person, we agreed to provide anonymous Testing to these persons. One participant, whose psychological assessment was unremarkable, coped well with the Predictive Testing process and did not have the CAG expansion. The other participant had considerable emotional problems prior to Testing, which necesitated postponement of discussion of results and referral for psychiatric assessment and support. Both participants had difficulty maintaining anonymity. The provision of anonymous Predictive Testing raises several problems. With anonymous Testing, clinicians cooperate with participants to exclude insurance companies from information. This may invalidate the contract with insurance companies. A policy response by insurance companies or a universal health care system to protect individuals is preferable. Individuals who request anonymous Testing may be precisely those most vulnerable and in need of additional support and counselling. However, the preservation of anonymity is a burden to participants and may frustrate the clinicians' ability to establish rapport in counselling and to provide appropriate follow-up typically available through genetic counselling in Predictive Testing programs.
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Risk reversals in Predictive Testing for Huntington disease.
American journal of human genetics, 1997Co-Authors: E. Almqvist, Shelin Adam, Maurice Bloch, Anne Fuller, Philip J Welch, Debbie Eisenberg, Don Whelan, David Macgregor, Wendy S. Meschino, Michael R. HaydenAbstract:The first Predictive Testing for Huntington disease (HD) was based on analysis of linked polymorphic DNA markers to estimate the likelihood of inheriting the mutation for HD. Limits to accuracy included recombination between the DNA markers and the mutation, pedigree structure, and whether DNA samples were available from family members. With direct tests for the HD mutation, we have assessed the accuracy of results obtained by linkage approaches when requested to do so by the test individuals. For six such individuals, there was significant disparity between the tests. Three went from a decreased risk to an increased risk, while in another three the risk was decreased. Knowledge of the potential reasons for these changes in results and impact of these risk reversals on both patients and the counseling team can assist in the development of strategies for the prevention and, where necessary, management of a risk reversal in any Predictive Testing program.