EMPAG Plenary Sessions

Living with Marfan syndrome; the European experience.
S. Vangoidsenhoven¹, S. De Bie¹, R. Hennekam², B. Loeys¹, A. De Paepe¹
¹Ghent University Hospital; Gent, Belgium; ²University of Amsterdam; Amsterdam, The Netherlands
anne.depaepe@rug.ac.be
A specialised questionnaire, containing 88 multiple choice questions on medical and psychosocial aspects, was sent to patients with Marfan Syndrome (MFS) from 7 European countries. We present data from 857 individuals on the quality of life and the psychosocial well being as experienced by persons with MFS. A scoring system was established to assess the objective severity of the condition in each individual. The subjective severity that stands for the patients‘ own perception of their condition was questioned. We compared the results with an objective coping score based on questions relating to the psychosocial adjustment. The data show that MFS represents a significant burden on many aspects of daily life but that most individuals are coping effectively with the disorder. The level of coping and the quality of life is determined by the subjective rather than by the objective severity. The subjective attitude towards the condition influences the attitude towards professional activities, relationships and reproductive options. Many individuals have difficulties discussing problems associated with the MFS. It remains important to stimulate the support of family, friends and patient support groups since social isolation negatively correlates with depression and anxiety. Professional support must pay attention to the threat of social isolation. We conclude that creating a positive frame of reference is an important element for their psychosocial well being.

Objective: Predictive genetic testing for familial adenomatous polyposis (FAP) is applied for nearly ten years, but little is known about its psychosocial effects. The aim of the study presented here is to investigate long-term psychological and social consequences of living with the knowledge of FAP running in the family. The main interest is to analyse the influence of genetic knowledge concerning reproductive decisions.
Method: 16 affected people from all over Germany were asked to tell their life-histories in order to investigate how people suffering from FAP live with their genetic knowledge. The qualitative evaluation of transcripts of the interviews followed the methodology of narrative biographical analysis developed by G. Rosenthal (1995).
Findings: All people investigated have learned to manage their own disease during their disease trajectories and to get over the uncertainties concerning their own health. However, the possibility to pass on or to have passed on the mutated APC-gen to the children remains a steady cause of uncertainty which is a major problem living with FAP. Four different types of strategies to cope with this uncertainty were found which have different consequences concerning reproductive decisions or explaining facts of FAP to the children. Due to the biographical approach of the analysis it is shown that the coping strategies mainly depend on individual experiences rather than on rational considerations concerning the genetic disease.
Conclusion: The individual case history has more influence on reproductive decisions and health care behaviour than rational genetic considerations. This must be considered in counselling models.

The Psychosocial Aspects of Skeletal Dysplasia and the Impact of Molecular Genetic diagnosis-An Exploratory Study

S. Alam¹, R. Macleod¹, D. Donnai¹, D. Craufurd¹, M. Wright²;
¹Academic Unit of Medical Genetics, and Regional Genetic Service, St. Mary’s Hospital, Manchester, UNITED KINGDOM, ²Institute of Human Genetics, International Centre for Life, Newcaste-upon-Tyne, UNITED KINGDOM.

Aim of this study was to explore the mental health and psycho-social problems associated with an undiagnosed skeletal dysplasia and the impact of a precise molecular diagnosis, which is hypothesised to have a significant psychological benefit for both the individuals and their families. Definitive diagnosis removes uncertainty, allows risk assessment and the possibility of testing for other family members. Previous research has explored the psychological and mental health aspects of having a skeletal dysplasia and has highlighted a range of difficulties particularly in adolescents. (Apajasalo et al., 1998; Hunter, 1998 and Vallmitjana, 1999). However, these studies relied upon quantitative measures. A qualitative methodological approach is effective in giving a fuller picture of the subjective experiences. A pilot sample consisting of both adolescents, older adults and parents (n=19) were interviewed using the constant comparative method with theoretical sampling derived from Grounded Theory (Glaser and Strauss, 1967; Strauss and Corbin, 1998) in order to identify key areas of concern. Analysis was performed using Atlas.ti software based on grounded theory principles, effective for qualitative analysis. Three major categories of themes were elicited. Firstly, the effect of the disorder on the psychological and social well-being of the individual when living with a conditon of this nature. The other two major themes concerned aspects of medical care and issues surrounding genetic diagnosis and testing. The data suggests that both psycho-social and practical benefits and problems are associated with molecular diagnosis for the patients and their families, important for the future direction of healthcare service provision.

S. Gollust¹, R. Thompson², B. B. Biesecker¹;
¹NHGRI/NIH, Bethesda, MD, ²Johns Hopkins University School of Public Health, Baltimore, MD.

Mutations in the gene encoding fibroblast growth factor receptor 3 cause achondroplasia, the most common form of inherited dwarfism. Although there are 10,000 individuals with achondroplasia in the United States, there has been little study of the quality of life of individuals living with the condition. For this study, surveys were collected from 189 individuals affected with achondroplasia (ACH) and 136 relatives of average stature (FDR). FDR and ACH individuals differed significantly in their perception of achondroplasia as well as in their evaluation of advantages and disadvantages that accompany the condition. Overall scores for quality of life (QOL) as well as scores in each of the four subdomains were significantly lower in affected individuals than in the relatives. Lower self-esteem scores, affected status, and lower income were the most significant predictors of a reduced quality of life index. A qualitative analysis of open responses to questions about the advantages and disadvantages of achondroplasia revealed that individuals were as likely to cite disadvantages relating to their health and functioning as they were to cite social disadvantages. Affected individuals' reduction in quality of life, lower than that which would be expected by relevant sociodemographic variables, can be interpreted to be a result of negative factors relating to social constraints on living in an average-sized world. Genetics professionals should consider a broad conception of quality of life as reported by individuals themselves to better understand and inform others about disabilities.

Impact on perceived control and risk-reducing behaviour of genetic testing for Familial Hypercholesterolaemia (FH): a randomised controlled trial

T. M. Marteau^1,2, V. Senior^1,2, S. Humphries^3,2;
¹King's College, London, UNITED KINGDOM, ²on behalf of GRAFT Study Group, King's College, London, UNITED KINGDOM, ³University College, London, UNITED KINGDOM.

Background There are concerns that predictive genetic testing may reduce perceived control over a disease, thereby reducing motivation to engage in risk-reducing behaviours.
Purpose To test the hypothesis that a diagnosis of familial hypercholesterolaemia (FH) incorporating genetic testing reduces perceptions of control over FH and adherence to risk-reducing behaviour.
Method
340 families (340 FH probands and 129 adult relatives) were randomised to: Routine clinical diagnosis; or Routine clinical diagnosis plus genetic testing (mutation searching in patients and direct gene testing in relatives). Outcomes were assessed at baseline, one week and six months after diagnostic testing.
Results
81% of probands and 73% of relatives completed the trial. Mutations were found in 29% of the 196 probands undergoing mutation searches and in 46% of the 37 relatives undergoing direct gene testing. The diagnosis of FH where a mutation was found had no impact on perceived control or adherence to risk-reducing behaviour at either time point, compared with a non-genetic diagnosis of FH. By contrast, for those in whom a mutation search was unsuccessful, perceived control over FH and heart disease was lower one week after testing, but not at six months.
Conclusion
The hypothesis was not supported. Future studies are needed to determine whether similar results are obtained in general populations undergoing genetic testing to learn of increased risks for early heart disease and other conditions.

K. S. W. H. Hendriks¹, F. J. M. Grosfeld¹, J. van den Bout², A. A. M. Wilde³, I. M. van Langen⁴, J. P. van Tintelen⁵, H. F. J. ten Kroode¹;
¹University Medical Center Utrecht, Utrecht, NETHERLANDS, ²University Utrecht, Utrecht, NETHERLANDS, ³Experimental and Molecular Cardiology Group, Amsterdam, NETHERLANDS, ⁴Academic Medical Centre, Amsterdam, NETHERLANDS, ⁵Academic Hospital Groningen, Groningen, NETHERLANDS.

Purpose: To assess the psychological reactions displayed by parents who applied for genetic testing of their children before and after disclosure of genetic results for inherited Long QT Syndrome.
Methods: Subjects are parents(n = 41) who applied for genetic testing of their children less than 16 years old. Before and two weeks after DNA test disclosure these parents completed questionnaires that assess levels of anxiety related to the test disclosure (IES), depression (BDI) and general anxiety (STAI).
Results: All parents showed high levels of distress at predisclosure measurement. After disclosure, parents of carrier-children (n = 24) had significantly higher scores on the IES (t = 5.03, P = .000), the BDI (t = 2.65, P = .013) and on the STAI-s (t = 2.34, P = .031) compared with parents without a carrier-child (n = 12). After disclosure, the percentage of parents of child-carriers with high or very high scores in comparison with the normal population on the distress measures is considerable: 41 % had IES scores indicating a traumatic impact, 29 % of the carriers had BDI scores indicating depression and 53 % had STAI scores indicating a high level of general anxiety.
Conclusion: High levels of psychological distress in our group may reflect great suffering for having a child with a life-threatening inherited arrhythmia. Whether the high levels of distress in these parents can be valued as a sign of maladjustment is dependent on the outcome of a follow-up study.

Interactional framing of decision-making and coping trajectories in counselling for predictive testing for Huntington’s Disease

S. Sarangi¹, K. Bennert¹, L. Howell¹, A. Clarke², P. Harper², J. Gray²;
¹Cardiff University, Cardiff, UNITED KINGDOM, ²Institute of Medical Genetics, Cardiff, UNITED KINGDOM.

Genetic professionals and clients in Huntington’s clinics may assign different meanings to the extended format of the counselling protocols for predictive testing. While counsellors typically see their role as following a specific agenda for the evaluation of clients’ understanding of predictive testing, including possible results and their implications for families, clients may regard their experience of protocols as of a gatekeeping nature that need to be complied with to gain access to testing.
We use discourse analytic methods to examine the interactionally complex framing of clients’ decision-making and coping trajectories, as prompted by counsellors’ agenda-driven probing. The notion of frame is taken from Goffman (1974:21) to denote `schemata of interpretation’ that enable participants`to locate, perceive, identify, and label’ occurrences and events within their everyday life spaces. The data includes over 40 detailed transcripts of audio-recorded pre-test sessions for HD involving 15 families in Wales. Our analysis suggests that the pre-test counselling sessions are predominantly oriented towards a display of clients' (i) accounts of the trajectories that underpin their current decisions about having or not having a predictive test, and (ii) reflections on how they are prepared to cope with the future implications a positive or negative test result may have upon themselves and their families. The analytic focus will be the incidences of misalignments in counsellors’ attempts to facilitate clients’ accounts of decision-making and coping - both retrospectively and prospectively - and in clients’ differential orientations to the temporal dimensions of their experience of living with the genetic condition.

Test motivation, predictive test result for Huntington's disease and the evolution of psychological distress over a five year period.

M. Decruyenaere¹, G. Evers-Kiebooms¹, T. Cloostermans¹, A. Boogaerts¹, J. Fryns²;
¹Psychosocial Genetics Unit, Centre for Human Genetics, Leuven, BELGIUM, ²Clinical Genetics Unit, Centre for Human Genetics, Leuven, BELGIUM.

The aims of the present paper are: (1) a description of general and specific distress in tested persons five years post-test, (2) an assessment of the evolution of depression level, anxiety and ego-strength over time, in function of test result and (3) the role of test motivation in explaining interindividual differences in psychological distress over time.
Methods: The 5-year assessment is an extensive psychological evaluation of tested persons (24 carriers, 33 non-carriers), using psychometric tests and qualitative measures. Some of these tests had also been administered at baseline and 1 year post-test.
Results: Carriers did not differ from non-carriers with regard to general distress. With regard to specific distress, carriers had significantly more avoidance behaviour and had less positive feelings about their test result than non-carriers five years post-test. The study further showed that mean depression level, general and HD-specific anxiety had significantly decreased at the 5 year assessment, compared with the baseline level. The evolution did not significantly differ for carriers and non-carriers. We found clear evidence for the role of the participant's test motivation in psychological distress. Persons who asked the test to get rid of the uncertainty, without specifying implications for substantial life areas, had more psychological distress before and after the test, compared to those who wanted the test to take action in an important life domain. Moreover, the pattern of distress differed over time, depending on the test motivation.
Implications of the findings for pre-and post-test counselling will be discussed.

Damned if you do, damned if you don't: the role of religious faith in predictive and diagnostic testing for Huntington's disease

S. A. Simpson, L. Emslie, Z. Miedzybrodzka;
Grampian University Hospitals Trust, Aberdeen, UNITED KINGDOM.

Presymptomatic predictive testing for Huntington’s disease (HD) has been provided for those at risk of this neurodegenerative disease for more than 15 years at centres throughout the world. Professionals from the international community, with family members, created a code of practice which is adhered to in most centres world wide. Despite cultural differences, this protocol has been remarkably successful in ensuring support for those who seek to know whether or not they have the mutation for HD. Guidance for the test suggests pre-test discussion ought to take place about issues involving family relationships, potential insurance problems, and employment difficulties, but religious faith is generally not included as a discussion topic. The role of spirituality in health and well being has been extensively explored in the medical literature, and in the field of prediction for cancer risk. Religious faith has been noted to be important in providing support after a predictive test result for HD, but there is no discussion about the role of religion in the decision making process. This paper will discuss the literature and give four case histories where issues surrounding religious faith have caused significant difficulties for the individuals who underwent predictive or diagnostic testing whether or not favourable or unfavourable results were produced.

Genetics and biotechnology provide us with new diagnostic tests (around 600 genetic diseases can be accurately diagnosed) and much needed therapeutic tools (around 100 diseases are now treated with a specific drug) , but health technology, practices and procedures cannot be left to the vagaries of economic forces and personal interests. There appears to be tendency to adopt the new applications of molecular genetics without always providing appropriate information and counselling. There are profound economic and technological inequalities between countries and population groups within Europe. Efforts must be made to propose and harmonize safeguards so that such inequalities are not aggravated, that the safety and rights of all individuals and communities are adequately protected.
The rapidity and complexity of the progress made in the field of human genetics generates the need to evaluate, apply and disseminate new techniques by skilled health professionals and an informed public. Medical genetic services are rapidly extending but there is concern about rising demand, inadequate infrastructures and the ethical and social implications of the changes.Genetic screening at the population level is expending rapidly, before an appropriate evaluation. Not only should genetic screening do more good than harm at a population level, it would do well to make individual sense to the person being screened. The availability of genetic tests at low cost may lead to the systematic offer of screening tests without the appropriate medical environment for providing information prior to testing as well as comprehensively explaining the results afterwards.

T. Clancy¹, B. Pooe-Monyemore², N. Madolo²;
¹Regional Genetic Service and Academic Group of Medical Genetics, Manchester, UNITED KINGDOM, ²Human Genetics, Department of Health, Pretoria, SOUTH AFRICA.

The priority that governments can give to genetic services varies between countries, particularly between those in the developing and the developed world. This is determined by factors including overall resources available and competing priorities. In August 2001, the Department of Health of the Republic of South Africa (RSA) announced the launch of the ‘Human Genetics Policy Guidelines for the Management and Prevention of Genetic Disorders, Birth Defects and Disabilities’. Alongside this, genetics training courses for nurses and midwives from the nine provinces took place with the support of the World Health Organisation. Three of the one-week courses, involving colleagues from eight of the provinces, were organised jointly by the Department of Health (RSA) and the Department of Clinical Genetics, St Mary's Hospital, Manchester (UK). The format and content of the training will be outlined. Both the resources available to and the cultural issues facing colleagues in RSA and the UK are different. However, examples will be presented to illustrate that the psychosocial impact of inherited disorders and birth defects are similar in the two countries. This suggests that while different priorities need to be set for genetic services in the developing and the developed world, the human issues raised for families and professionals are universal.

Twenty years of social work in clinical genetics in the Netherlands: Where do we stand and what do we need in the future

H. G. Van Spijker¹, T. Brouwer²;
¹University Medical Centre, Utrecht, NETHERLANDS, ²University Medical Centre VU, Amsterdam, NETHERLANDS.

From its beginning as a profession, social work has demonstrated a strong commitment to serving individuals and families whose health problems have influenced their psychosocial functioning in serious ways. In most clinical genetic centres in the Netherlands there are social workers involved in the genetic testing programs who provide psycho-education and support. Although the role of social workers in the psychosocial counselling for individuals and their families is widely accepted, there are only a few practice-based research reports.
In the Netherlands, the number of social workers in the clinical genetic centres has doubled in the last fifteen years. They offer individual support to counselees and their partners, they participate in formulating counselling protocols, and they develop models for professional help and psycho-education.
Recently it has become evident that a job description was needed to define the core competencies of the position for other (health) professionals, both in the field of clinical genetics and externally. The areas of results are well defined in the job description so it is now clear in which areas specific to genetics a social worker can offer help.
From a joint inventory of the activities carried out in recent years, we present an overview of the type of help most frequently requested and offered. Moreover, this inventory reveals which results from the psychological research in genetics have proved to be most useful in social work practice. It also reveals what issues we would like the research to focus on in the next ten years.

A randomized trial of three approaches to genetic counselling for late maternal age.

J. E. Allanson, M. Cappelli, T. Chiu, L. Humphreys, A. Hunter, D. Moher, A. Zimak;
Children's Hospital of Eastern Ontario, Ottawa, ON, CANADA.

Few outcome studies of genetic counselling for late maternal age have been reported, yet a significant proportion of pregnant women 35 and over are offered prenatal diagnosis; most will have genetic counselling prior to testing; these women must make complex decisions; and considerable resources are committed to this service. In our region, population 1.4 million, virtually all women are seen by a genetic counsellor before their first prenatal test. In 2000, 1149 women were counselled. Before 1999, counselling occurred in a one-on-one session. In the late ‘90s we developed a decision aid to facilitate communication of facts about prenatal diagnostic tests, focus patient views, and aid choice of testing. In a trial of that decision aid, knowledge significantly increased, decisional conflict significantly decreased, anxiety about testing did not change, and acceptability was reasonably high. In 2000, we initiated a randomized controlled trial to compare one-on-one counselling, group counselling of 4 women/couples, and use of the decision aid. All three approaches had the same content. We hypothesized that counselling in any form would improve knowledge, reduce decisional uncertainty and reduce levels of distress associated with prenatal testing. Secondly, we hypothesized that there would be no statistical or clinically significant difference between the three groups. Our results demonstrate that each approach has it's advantages: although people prefer one-on-one counselling, they learn best in a group or decision aid setting, and the least decisional conflict is found with the decision aid. Importantly, we find no clinically significant difference between the three approaches.