EMPAG Posters

R. Jusiene^1,2, L. Cimbalistiene³, R. Bieliauskaite¹;
¹Department of Clinical and Social Psychology, Vilnius University, Vilnius, LITHUANIA, ²Vilnius University Hospital, Human Genetics Centre, Vilnius, LITHUANIA, ³Human Genetics Centre, Vilnius University, Vilnius, LITHUANIA.

Introduction: Phenylketonuria (PKU) is an inherited genetic metabolic disorder in which the enzyme required to digest phenylanine (Phe) is missing. If untreated, individuals with PKU develop high levels of Phe in their blood which can affect brain development and function. That's why low protein diet must be introduced from the birth. Nevertheless, several studies show higher incidence of behavioral problems, especially internalizing, in early-treated PKU children and suggest psychological perspective explaining them. Parental maladjustment to child's chronic illness and everyday stress managment related to the burden of special diet can be reasons for psychological problems of PKU children.
Aim: To evaluate the psychological adjustment of PKU children (as compared to healthy controls) and analyze it in the context of psychological impact of PKU on the family.
Methods: Parents of 37 early-treated PKU children (age 4-14 years old) and of 37 matched controls were asked to fill the Child Behavior Checklist (CBCL, Achenbach, 1991) and questionnaire on stress coping strategies (Elklit, 1996). Parents of PKU children answered the questionnaire on reactions to child's disease and it's impact on the family.
Results: PKU children have significantly more behavioral problems than healthy controls. They are more withdrawn, anxious/depressive, have more social and attention problems. The higher rates of internalizing and overall problems are related to parental maladjustment (feelings of guilty and anger) together with maladaptive (emotion-oriented) stress coping strategies. Two latter factors further indulging the child, that also predicts the psychological problems of PKU children.

Are experiences with HD related to the attachment representation in adults at 50% risk for HD? An empirical exploration

M. Duisterhof¹, R. W. Trijsburg¹, H. J. Duivenvoorden¹, A. Tibben²;
¹Department of Medical Psychology and Psychotherapy, Rotterdam, NETHERLANDS, ²Departments of Clinical Genetics and Neurology, Leiden, NETHERLANDS.

Introduction: Huntington‘s disease (HD) is a family disease. We introduced the attachment theory as framework to study the effect of childhood experiences with HD on adult functioning. According to the attachment theory a child forms on the base of daily interactions with his parents a mental representation of the relationship with his parents. A child is securely attached when he approaches his parents, especially when being frightened, tired or ill. He can also be attached to his parents in a dismissing (insecure-avoidant) or preoccupied (insecure-resistant) way. Once formed attachment representations are relatively resistant to change. The Adult Attachment Interview (AAI)¹ allows assessment at adult age of attachment representation, unresolved trauma and loss. We studied the attachment representation in adults at 50% risk for HD and explored its relation to HD experiences and family characteristics.
Method: 30 adults at 50% risk, having had a parent with HD in childhood, were administered the AAI. They completed a questionnaire concerning family characteristics and HD experiences. The differential qualities of the attachment categories were explored by multivariate modeling of HD experiences and family characteristics (i.e. optimal scaling techniques).
Results: 11 subjects were securely attached, whereas 14 were preoccupied attached and 5 dismissing attached; 16 out of them were unresolved regarding trauma and/or loss. Compared to non-clinical samples², fearful preoccupation and unresolved trauma were overrepresented. The relation between attachment representation and HD are currently being analysed. It will be discussed how the attachment representation is related to HD experiences and family characteristics.

The situation and attitudes of patients suffering from a hereditary disease and those of their partners

DNA analyses can help to differentiate diseases and to make a diagnosis certain. However, the psycho-social problems may increase with new diagnostics. One aim of our study was to investigate the attitudes of patients suffering from a hereditary disease and those of their partners. We wanted to investigate whether there are special features in coping with a heredity disease. Method: The study was carried out by questionnaires. Results: 68% of the patients and 27% of the partners had to restrict their professional life. About 20% in both groups had conflicts with family members. 52% of the patients considered that the difficulties of their situation had strengthened the partnership, whereas about 25% reported conflicts with their partner and, in 7%, the partnership was dissolved. For more than 70% of the patients, their partner is the most important person to help them to cope with the disease. 65% of the patients and 71% of the partners wished to undergo prenatal DNA diagnosis. More than 50% of both groups thought that the termination of pregnancy after a positive prenatal diagnosis is justified. Almost all patients confirmed that the doctor is important not only for giving information, but also for discussions regarding coping with the disease. Conclusion: Good family and social integration and close-meshed consultations by specialists form the basis for coping with a hereditary disease. Genetic counselling can provide the frame for genetic analysis. The partner has to be integrated into the counselling process and should be paid the same amount of attention.

R. Posmyk¹, S. Stengel-Rutkowski², L. Anderlik³, A. T. Midro¹;
¹Department of Clinical Genetics, Medical University Bialystok, Bialystok, POLAND, ²Department of Medical Genetics, University of Munich, Munich, GERMANY, ³Montessori Therapist, 2nd Clinic of Paediatrics, Munich, GERMANY.

Haploinsufficiency of 5p15.2-15.3 results in Cri du chat syndrome (CDC, OMIM 123450), which is a well-recognizable genetic condition with characteristic facial dysmorphism, organs anomalies, psychomotor and mental retardation. In contrast to routinely published convictions of severe mental and behavioural incapacity of children with CDC, more specific data on their abilities and educational needs are not available. The main aim of our work was a detailed qualitative study of the behavioural profile of CDC, starting with a 6-year-old boy with characteristic clinical features confirmed by cytogenetic findings. Our method is based on the analysis of single picture observations taken from video documentation during child directed therapeutic playwork in a Montessori structured environment. The synthesis of our observations revealed a wide range of abilities: the psychomotor skills include a very good manual abilities, a good non-verbal communication and partially expressed verbal communication, the social abilities include a good eye contact and participation in playwork and the emotional abilities concern the child’s manifestation of happiness, proudness of managing with his work by himself, anger, boredom and others. We believe that a more detailed knowledge on the developmental and behavioural phenotype of CDC should take an important part of genetic counseling.

Discovering and disclosing the family disease: stories from Huntington's disease consultands, and their partners.

K. Forrest, S. A. Simpson, E. van Teijlingen, B. Wilson, N. Haites, L. McKee, E. Matthews;
University of Aberdeen, Aberdeen, UNITED KINGDOM.

Background: Research suggests that some Huntington’s disease consultands grow up knowing about the disease, whilst others do not. Indeed, some only find out after the death of a parent or sibling, or after a relative has been diagnosed. This issue is important for several reasons: individuals might be disadvantaged emotionally, socially, financially or medically by having genetic information withheld or disclosed, and conflicts may arise within families if some cannot accept a parent’s or sibling’s right to privacy or right not to know.
Methods: In-depth interviews were undertaken with people who have received genetic counselling for Huntington’s disease, and their partners. The interviews explored how participants found out about the disease; whether subsequent relatives had or had not been told; the factors which influenced telling or not telling; who should tell; and views of the genetic counselling process.
Results: We explored how and when participants found out about Huntington's disease and the effect this had on subsequent family relationships and decisions to tell other relatives such as children. Respondents’ views about whose responsibility it is to pass on this type of information were also examined.
Conclusions: The impact of Huntington’s disease on family dynamics may result in family secrets and/or living at risk. The level of disclosure to relatives can at times be limited but also depends on the psycho-social, cultural and familial context. Ultimately, we hope that this study will contribute towards a wider understanding into the dynamics within families after someone in that family attends for genetic counselling.

K. F. Peters¹, M. Hanslo¹, f. Kong², B. B. Biesecker³;
¹Pennsylvania State University, State College, PA, ²Westat Research Institute, Rockville, MD, ³NHGRI/NIH, Bethesda, MD.

As individuals with Marfan syndrome are increasingly diagnosed prior to childbearing, there is opportunity to study factors related to the diagnosis that influence their reproductive planning. Data will be presented from an exploratory study of 174 adults with Marfan syndrome regarding their reproductive plans. A majority of survey respondents were Caucasian and well educated. Fifty eight percent were female and 64% were members of the National Marfan Foundation. Sixty percent of the cohort reported difficulties with sex drive. Age (50+ yrs), striae, back pain, and low quality of life were each independently correlated with a lack of sex drive. Forty percent of the respondents had children, with 33% having one or more children affected with Marfan syndrome. Approximately 62% of the total cohort agreed that having Marfan syndrome has significantly affected their decisions about having children. Age at diagnosis, mitral valve prolapse, and the view that Marfan syndrome has adverse consequences on one’s life were each independently correlated with the perception that being affected had influenced their reproductive plans. Of the total cohort, 69% reported that they were interested in prenatal testing for Marfan syndrome. Clinical features and psychosocial issues both contribute negatively to affected adults’ reproductive decision-making and sexual well-being. Genetics professionals are ideally positioned to address concerns surrounding reproduction with Marfan syndrome patients and to refer those with significant sexual or reproductive concerns for further evaluation and management.

Caring For Fronto-temporal Dementia Patients: Influences Of Premorbid Relationship On Current Caregiver Burden

J. C. Mourik¹, S. M. Rosso², J. C. Van Swieten², H. J. Duivenvoorden³, M. F. Niermeijer⁴, A. Tibben⁵;
¹Dept. of Medical Psychology and Psychotherapy, Erasmus Medical Centre (Erasmus MC), Rotterdam, NETHERLANDS, ²Dept. of Neurology, Erasmus MC, Rotterdam, NETHERLANDS, ³Dept. of Medical Psychology and Psychotherapy, Erasmus MC, Rotterdam, NETHERLANDS, ⁴Dept. of Clinical Genetics, Erasmus MC, Rotterdam, NETHERLANDS, ⁵Dept. of Clinical Genetics and Neurology, Leiden University Medical Centre, Leiden, NETHERLANDS.

Introduction: Fronto-temporal dementia (FTD) is a neurodegenerative disorder characterised by personality changes, alterations in social conduct, aphasia, and a decline in frontal cognitive functions. Its onset is mostly during the presenium. In 20 percent of the patients a familial form with an autosomal dominant pattern of inheritance is seen.
Research has shown that caring for a demented patient with whom the premorbid relationship was warm and positive is less stressful than if the relationship was problematic. Little is known about associations between quality of the premorbid relationship and subjective burden of the primary informal caregiver of the FTD patient.
Objective: To get insight into the caregiver burden of primary informal caregivers of FTD patients in association with the quality of the premorbid relationship.
Participants: Informal caregivers (65 in total) who were registered at the outpatient clinic of the department of Neurology at the Erasmus MC. Two groups were distinguished a) caregivers of patients that live at home, and b) caregivers of patients that are hospitalised.
Assessment of variables: Subjective burden is operationalised and assessed by:
· Emotional burden of the caregiver as measured by a section of the Neuropsychiatric Inventory on neuropsychiatric functioning of the patient.
Quality of the premorbid relationship is measured by:
· Self-report questionnaire on 1) closeness, 2) communication, 3) similarity in views about life, and 4) degree of getting along.
Results: The quality of the premorbid relation will be related to subjective burden as outcome measure. The statistical analysis to be applied is multiple linear regression.

C. Jurca, M. Bembea, V. Schiopu, D. Bara, O. Vancsik, C. Skrypnyk, M. Bembea;
Clinical Children Hospital, Oradea, ROMANIA.

Introduction: The Dwarfism is a relatively frequent feature in the genetics pathology. In our study, from 2995 cases with genetics diseases, 97 (3,2%) presents Dwarfism. In all the cases, this is a specific feature of the disease or syndrome. Objective: The identification of the main psychosocial problems of the dwarf children during school age. Material and Method: 32 children on school age with different etiologies of dwarfism (achondroplasia, hypochondrodisplasia and others osteochondrodysplasias, mucopolysaccharidoses, osteogenesis imperfecta, growth hormone deficiency, Turner syndrome etc.) underwent psychological tests and sociological investigations. In every case we followed: scholar performances, community accommodation, effort adaptation, child’s behavior in school, family and society. Particularities regarding age, sex, family, diagnostic, treatment, are identified in this study. The special needs of current care inside the family, medical care, psychological and pedagogic support, are evaluated. Results: All the school-age children with dwarfism have psychosocial problems. From these, the most frequent are: the problems of family adaptation, school adaptation and professional orientation. In some cases, nor the family, neither the school or the society doesn’t find the best methods for adaptation to the child’s sufferance.

P. S. Iwanowski¹, S. Stengel-Rutkowski², L. Anderlik³, J. Pilch⁴, A. T. Midro¹;
¹Medical Academy Bialystok, Department of Clinical Genetics, Bialystok, POLAND, ²University of Munich, Department of Human Genetics, Munich, GERMANY, ³Montessori therapist, Munich, GERMANY, ⁴Silesian Medical University, 2nd Clinics of Paediatrics, Katowice, POLAND.

Wolf-Hirschhorn syndrome (WHS), a rare condition with characteristic facial traits, organ malformations, and functional impairment associated with partial short arm monosomy of chromosome 4, used to be invariably linked with profound psychomotor and mental retardation and lack of social or emotional communication. Recent data on better both somatic (eg. walking, general survival) and behavioural (eg. communication, social functioning) development in WHS give rationale to more detailed studies of the WHS phenotype. We undertook a detailed qualitative study of the behaviour profile of two children with WHS based on subsequent image analysis elicited from a video sequence recorded of a therapist-guided playwork, which was featured in the environment structured according to the principles of Maria Montessori. The focus was set on children abilities and not defects. Based on the results obtained, we attempted to elicit the needs of studied children in order to favour preventing of secondary mental impairment in children with WHS and stimulating their development by their families. Our results support the previous communications on better abilities profile of children with WHS (psychomotor, emotional, communicative, and social ones) than commonly attributed to this syndrome. We think that the growing data on the behavioural phenotype in genetic conditions, including WHS, will contribute to better and more complete genetic counseling.

Congenital Malformations and Genetic Disorders as A Source of Investigation of the Psychosocial Repercussions in Pregnant Women in a State Hospital Prenatal Clinical Care from Rio de Janeiro, Brazil.

A. S. N. Marinho, O. A. Coser Filho, J. C. Llerena Jr.;
Fernandes Figueira Institute of Oswaldo Cruz Foundation, Rio de Janeiro, BRAZIL.

We conducted an investigation of the psychosocial repercussions in high genetic risk pregnant women based upon a diagnosis of congenital malformations and/or genetic disorder at a Medical Genetics reference centre in the State of Rio de Janeiro, Brazil, during 2000. The aim of the investigation was to share the experience with 141 women, as far as comprehending the process of decision making and the necessary change of attitude needed by the families upon a clinical and/or laboratory diagnosis of congenital malformation or genetic disorder. The method used, included medical document research as to map social, demographic and cultural characteristics, ethnographic protocol (Geertz, 2000), interviews with the families, and the Life History Method (Becker, 2000), as to investigate the impact of the diagnosis. The population investigated were referred from different geographic regions of the State of Rio de Janeiro (14000000); most couples had a low schooling education; only 12% had received a genetic counselling previously the current pregnancy; the mean maternal age was 31 years old; a very low uptake of invasive exams (amniocentesis, specially) was observed due to different reasons such as emotional, moral religious or ethical (in Brazil therapeutic abortion isn’t permitted by law). The maternal age risk factor was the most important one (80%). The information is the central aspect in the process of making decisions. It’s necessary to create favorable psychological conditions to the understanding of the information, guaranteeing the patient's presence until the end of the process and hers return to the genetic counseling.

J. Hodgson^1,2,3, M. Sahhar^1,4;
¹Murdoch Childrens Research Institute, Royal Childrens Hospital, Melbourne, Victoria, 3052, AUSTRALIA, ²The Co-Operative Research Centre for Discovery of Genes for Common Human Diseases (Gene CRC), Richmond, Melbourne, Victoria 3121, AUSTRALIA, ³Melbourne University, Parkville, Melbourne, Victoria, 3052, AUSTRALIA, ⁴Genetic Health Services Victoria, Royal Childrens Hospital, Melbourne, Victoria, 3052, AUSTRALIA.

Genetic counselling research has been criticised for focusing on outcomes rather than process (Pilnick & Dingwall 2001). There have been less than 25 published process studies since 1977 with few in the area of prenatal diagnosis. Other literature concerning prenatal genetic counselling process describes retrospective, subjective impressions of session content and decision-making processes. The process of prenatal genetic counselling remains largely unexplored.
Following prenatal diagnosis parents have a choice to accept or reject the pregnancy. Conditions detected range from lethal to mildly disfiguring.
Content of genetic counselling sessions appears to be largely information giving (Michie, Marteau & Bobrow 1997) and exploration of other issues may be ignored. The continuing adherence to non -directive counselling may minimise counsellor involvement with decision-making (Terrell White 1999) and possibly constrain moral discussion for those who desire it. Research is needed to determine whether clients wish to have a level of moral discourse available to them.
As the scope of genetic screening and diagnosis increases and presents new and increasingly complex dilemmas, inclusion of a client-led moral discourse may be seen as a justifiable goal of future genetic counselling practice.

D. A. Zarri, D. Caprino, P. G. Mori;
G. Gaslini Children's Hospital, Genova, ITALY.

It is now possible to identify carrier status and to perform prenatal diagnosis of haemophilia. Therefore, the parents can choose whether to have haemophilic children or not, and this choice will condition the rest of their lives. Thus counselling is an important aspect and it should not be a once in a lifetime event: the decision-making process is something that should be on going. Counselling should provides families the option of changing their mind. Rational aspects and doubts they might have, even month or years after the first consultation, must be considered. Nowadays it is possible to get information easily from several sources even though it could be inaccurate and contradictory, counselling allows people to discuss and to exchange views concerning medical progress.
Drawing up a counselling outline decreases the disagreements regarding the medical and psychological aspects. If all the centres provided the same information, the perception, about the discrepancies among the various specialist would decrease.
Counselling should be geared to the subject we are talking to, and should take into account social and cultural levels, age and reasons for counselling. The counsellor must be neutral and all the possible strategies must be considered.
The basis for a long lasting therapeutic alliance can be achieved through counselling; the main advantages can be had by the patients and their families as by the staff. The type of dynamic counselling we are suggesting needs to be up-to-date. Everyone working in genetic counselling must be involved, from laboratory staff to the consulting physician.

A. I.C.E. Italian co-operative group¹, D. Caprino²;
¹Associazione Italiana Centri Emofilia, Italia, ITALY, ²Gaslini Children's Hospital, Genova, ITALY.

Haemophilia A and B are X-linked bleeding disorders due to coagulation Factor VIII or Factor IX deficiency.
Severe haemophilia is characterised by life-threatening bleeding, chronic arthropathy and recently HIV and hepatitis virus infection. Progress in therapy and prophylaxis has improved the quality and expectancy of life of the haemophiliacs.
Many women at risk request genetic counselling and prenatal diagnosis. To investigate carriers' knowledge about treatment and prenatal diagnosis we designed a multichoice questionnaire.
So far, 189 women, most of them aged between 20 and 45 years, from all over Italy have answered.
Regarding the genetic aspect, in familiar cases, 22% claim they found out about the risk of having an affected child only after a haemophilic son was born and 30% did not answer the question.
285 pregnancies are reported for the 173 women, and 33 PD were performed. One of the 3 prenatally diagnosed affected males was aborted.
Many couples choose not to have other children after the birth of a haemophilic, mainly due to their carrier status.
The availability of new and safer concentrates has improved the way people feel about of the disease and therapy.
In 20 years experience at the Gaslini Institute, 117 PD were performed and 87% of the affected males were aborted. We suppose that the couples requesting PD had already decided to abort the affected males. Many carriers avoid pregnancy since having to make a decision on abortion is unbearable for them.

Predictive testing for BRCA1/2: attributes, risk perception and management in a UK multi-centre clinical cohort

C. Foster¹, D. G. R. Evans², R. Eeles³, D. Eccles⁴, S. Ashley³, L. Brooks², R. Davidson⁵, J. Mackay⁶, P. J. Morrison⁷, M. Watson³;
¹The Institute of Cancer Research, Sutton, UNITED KINGDOM, ²St Mary's Hospital, Manchester, UNITED KINGDOM, ³Royal Marsden NHS Trust, London/Sutton, UNITED KINGDOM, ⁴Princess Ann Hospital, Southampton, UNITED KINGDOM, ⁵Yorkhill NHS Trust, Glasgow, UNITED KINGDOM, ⁶Institute of Child Health, London, UNITED KINGDOM, ⁷Belfast City Hospital, Belfast, UNITED KINGDOM.

The aim of this multi-centre UK study is to examine the attributes of a cohort offered predictive genetic testing for breast/ovarian cancer predisposition. Participants are adults unaffected with cancer from families with a known BRCA1/2 mutation. This is the first large multi-centre study of this population in the UK. The study evaluates mental health, perceived risk of developing cancer, preferred risk management options, and motivation for genetic testing. Participants were assessed when coming forward for genetic counselling prior to proceeding to genetic testing. 312 individuals, 76% of whom are female, from 9 UK centres participated in the study. There are no gender differences in rates of psychiatric morbidity. Younger women (<50 years) are more worried about developing cancer than older women. Few women provide accurate figures for the population risk of breast (37%) or ovarian (6%) cancer but most think that they are at higher risk of developing breast (88%) and ovarian (69%) cancer than the average woman. Cancer related worry is not associated with perceived risk or uptake of risk management options except breast self-examination. The findings indicate that younger women may be particularly vulnerable at the time of the offer of a predictive genetic test.

Breaking the rule of nondirectiveness: the psychological impact of early identification of breast cancer patients at risk for hereditary breast cancer

K. J. Schlich-Bakker¹, H. F. J. ten Kroode¹, F. J. M. Grosfeld¹, C. C. Wárlám-Rodenhuis¹, M. G. E. M. Ausems¹, J. van Echtelt¹, M. van der Heiden-van der Loo², J. van den Bout³;
¹University Medical Center, Utrecht, NETHERLANDS, ²Comprehensive Cancer Center, Utrecht, NETHERLANDS, ³Dep. Clin. Psychology, University, Utrecht, NETHERLANDS.

Past five years are characterized by a steady growing interest in genetic counseling for hereditary beast cancer. Applicants for genetic counseling have mostly concerned healthy persons at high risk for developing breast cancer; they were well motivated and highly educated. By identifying cancer patients with a BRCA gene mutation and subsequently taking preventive measures and diagnostic procedures, life expectancy of patients and relatives may improve. Besides healthy at risk persons, breast cancer patients will apply, even during course of their treatment. Currently breast cancer patients are stimulated to apply for genetic counseling in a fairly directive manner at the Department of Radiotherapy of the University Medical Center Utrecht in the Netherlands. The protocol used consists of the following consecutive stages: 1) screening on eight factors predisposing hereditary breast cancer, 2) composition of a pedigree, 3) genetic counseling and 4) DNA analysis. Aim of this study is to gain insight into psychosocial consequences of this directive approach and provide guidelines for a directive approach in genetic counseling. Effects will be investigated using questionnaires focussing on psychological wellbeing as well as knowledge and attitude towards genetic counseling. Subsequently a semi-structured interview will be administered.
Genetic risk assessment while starting radiotherapy treatment may prove a psychological burden. However, we expect patients who are informed of an unlikely genetic cause will also be relieved. Based on previous studies indicating decreased psychological wellbeing of patients declining genetic risk assessment we expect that patients who withdraw from the protocol will report less psychological wellbeing than others.

Predictive testing for hereditary breast and ovarian cancer (HBOC): Psychological impact and health related behaviour in the year following the communication of the predictive test result.

E. Claes¹, G. Evers-Kiebooms¹, M. Decruyenaere¹, L. Denayer¹, A. Boogaerts¹, E. Legius²;
¹Psychosocial Genetics Unit, Leuven, BELGIUM, ²Clinical Genetics Unit, Leuven, BELGIUM.

Since the end of 1997, predictive genetic testing for HBOC has been available as a clinical service in Leuven. Test applicants are offered pre- and post-test psychological counselling in the context of a multidisciplinary approach. Longitudinal psychological research, embedded in the clinical service, is aimed at establishing a baseline evaluation of the testees and at assessing the psychological impact of predictive genetic testing. In the present paper, follow-up data for the first year after predictive testing are discussed for 38 tested women (21 carriers and 17 non-carriers).
The mean general distress levels of carriers and non-carriers were not significantly different during the pre-test period nor one year after predictive testing. Moreover, distress levels were not higher (some even lower) than in the general population. Except for the STAI-State score that decreased over time, no significant differences were found between pre- and post-test measures.
Most of the carriers who opted for regular medical examinations followed the screening recommendations. About 10% of the carriers had a prophylactic mastectomy within the year after the test result. More than two thirds of the remaining group of carriers stated that they would not have a prophylactic mastectomy in the future. Of the carriers above 35 years, 37% already had an oophorectomy before applying for predictive testing whereas 44% had prophylactic oophorectomy after genetic testing.

Acceptance of testing for genetic predisposition to breast cancer: Part 2 - The attitude of society

A. V. Shopova¹, S. A. Shopova², M. G. Pesheva³, E. G. Simeonov⁴;
¹Biological Faculty - Sofia University "St.Kliment Ohridsky", Sofia, BULGARIA, ²Section of Clinical Genetics - Medical University, Sofia, BULGARIA, ³Dept.of Genetics, Biological Faculty - Sofia University "St.Kliment Ohridsky", Sofia, BULGARIA, ⁴Section of Clinical genetics - Medical University, Sofia, BULGARIA.

Background: This study represents the second conclusive part of a research project.
Objectives: To assess the attitude of the society towards the testing of healthy people for genes predisposition to cancer and summarize the results of the two parts of the project.
Setting: The study was carried out with the participation of 15 students - molecular biology, 15 women at risk and 30 healthy women tested by means of a personal interview and a psychological questionnaire.
Participants: Total 109 women (aged 21 - 73): 49 medical professionals and 60 others.
Results: 27 (25% of participants) refused to collaborate; 23 (28% of the collaborating ones) reported personal experience or positive family history of breast cancer. 67% of the students were familiar with BRCA 1 and 2. 75% of the participants would accept pre-symptomatic breast cancer testing, if required.
Conclusions: There is no strong correlation between age and attitude as well as between personal tragic experience and attitude. However, there is a strong positive correlation between educational level and level of knowledge about cancer. Thus the need of more information is clearly indicated.

BRCA1/2 Testing in Hereditary Breast and Ovarian Cancer Families: Impact on Relationships

B. B. Biesecker¹, A. McInerney-Leo¹, R. E. Thompson², D. Hadley¹, R. Kase³, T. Giambarresi³, C. Lerman⁴, J. Struewing⁵;
¹NHGRI/NIH, Bethesda, MD, ²Johns Hopkins University Biostatistical Center, Baltimore, MD, ³Westat Research Inc, Rockville, MD, ⁴University of Pennsylvania, Philadelphia, PA, ⁵NCI/NIH, Bethesda, MD.

Members of Hereditary Breast and Ovarian Cancer (HBOC) families often express concern within genetic counseling about the impact of BRCA1/2 testing on relatives. Yet, the impact of the decision to undergo cancer susceptibility testing and/or the results themselves on family relationships is not known. Within a randomized trial of cancer genetic counseling method, 212 members of thirteen HBOC families were offered BRCA1/2 testing for a known family mutation. Data on family functioning was collected at baseline and again at 6-9 months following the receipt of test results, or at the equivalent time for those participants who chose not to undergo testing. 181 participants elected to undergo genetic testing (85%) and 47 (26%) were identified as mutation carriers. The Family Relationship index was used to measure changes in perceived cohesion, conflict and expressiveness from baseline to follow-up. Change was analyzed for each measure between testers and non-testers and between those who tested positive and negative. Overall, there were positive changes in expressiveness and cohesion and negative changes in conflict. Individuals who opted for testing had lower feelings of cohesiveness and expressiveness than those who declined testing (p = 0.054 and p = 0.09 respectively). Expressiveness was significantly lower in those who tested positive rather than negative (p = 0.005). Results suggest that choosing to undergo BRCA1/2 testing and living with positive results may cause less disruption in families in which there are not strong feelings of cohesiveness or expressiveness.

K. Jackson¹, A. Dodge², E. Howard², D. Craufurd²;
¹Blackpool Victoria Hospital, Blackpool, UNITED KINGDOM, ²Academic Unit of Medical Genetics and Regional Genetic Service, Manchester, UNITED KINGDOM.

Ethical guidelines for HD predictive testing are widely observed and appear to work well. However, genetic testing can also be used to confirm or exclude HD from the differential diagnosis in apparently affected individuals. There are no guidelines for ‘diagnostic’ testing, but anecdotal reports suggest considerably more problems than with presymptomatic testing. Some UK laboratories require signed consent for diagnostic testing, but practice varies considerably between centres.
258 requests for HD diagnostic testing were received by the molecular genetic laboratory in Manchester between 1993 and 2000. The number increased steadily from 18 in 1993 to 48 in 1999. Referrals originated from 33 clinicians in 8 specialties. The percentage of positive test results varied between clinicians from 38% to 100%. Logistic regression analysis indicated a significant difference between referring clinicians (p=0.0006) but no significant effect due to specialty. Requests from clinical geneticists declined from 90% in 1993 to 40% in 1999, while the proportion of positive results decreased from 88% to 62%. Clinical information was provided on 60% of request cards, and family history on 45%.
Referring doctors with a low rate of positive results presumably use the test to eliminate HD in cases with relevant symptoms but no family history. The use of consent forms in such cases may arguably raise patients’ anxieties unnecessarily, but conversely may help to reduce the risk of performing ‘diagnostic’ tests on presymptomatic at-risk individuals who have not been referred for genetic counselling. The implications for future policy will be discussed.

Psychological impact of pre-symptomatic genetic testing for Machado-Joseph disease: preliminary results.

AUTHORS: Susana LWdo; Manuela Fleming; José Carlos Rocha; Jorge Sequeiros
The aim of the present study was to measure the impact of pre-symptomatic genetic testing for Machado-Joseph disease, at the beginning and end of our program of genetic counselling and psycho-social evaluation and follow-up.
We studied the first 19 individuals at-risk (1 male, 18 females; mean age: 41.7 years), to have completed our protocol. The scores of depression and anxiety, reached through the application of two scales (Clinical Evaluation Inventory of Depression, Vaz Serra & Abreu, 1973 and Zung‘s Anxiety Scale, Vaz Serra et al., 1982), were chosen as indicators of the emotional state to of each subject and taken three moments: before pre-symptomatic testing, and at three weeks and at nine months after disclosure of the results of the test.
Our preliminary data shown that, (1) the scores of depression and anxiety did not achieve pathological levels at any moment, for the vast majority of subjects; and that (2) awareness of the test results does not cause a negative psychological impact - mean scores of depression and anxiety by the third moment were always lower than those at the first moment of evaluation. This pointed to psychologically healthy adaptation to the new genetic status (carrier or non-carrier), for all subjects studied, even in those cases where anxiety and/or depression raised immediately after testing (three weeks). Despite this small sample, the results are in concordance with previous studies and helped us to delineate future research.

The revelation of the Huntington's disease asymptomatic diagnosis : psychosocial aspects

M. Batt¹, M. Germain², G. Barroche³, A. Trognon⁴, P. Jonveaux²;
¹C.H.R.U.N. Laboratoire de Génétique. Université Nancy2. GRC, Nancy, FRANCE, ²C.H.R.U.N. Laboratoire de Génétique, Nancy, FRANCE, ³C.H.R.U.N. Sce Neurologie, Nancy, FRANCE, ⁴Université Nancy 2. GRC, Nancy, FRANCE.

The main purpose of this research is to study how to minimize the psychological dangers of an asymptomatic genetic diagnosis of Huntington's disease. Therefore, we record and study the conversations that took place in the predictive consultations. We study it with a theory which updates the social and cognitive aspects of the verbal interactions : the Interlocutory Logic. This analysis allows us to show where the complexity of these interactions lie and to pinpoint very subtle conversational mechanisms which are implicated. More precisely, we show how the interlocutors-in-interaction (practitioners as well as the asymptomatic individuals at risk) refer to the demand of knowledge during the successive dialogs that are initiated by it.

M. O. Mkheidze;
Medical Academy for postgraduate training, Sankt-Petersburg, RUSSIAN FEDERATION.

To author’s opinion there is the deepest gulf between the highest level of the modern molecular medicine and its understanding of the physicians and persons. The aim of this investigation consists of the study of gynaecologists' views on some problems of the predictive medicine. Materials and method. At the beginning of six-hour lecture, 50 of obstetricians and gynecologists (41 women, 9 men aged from 24 to 53 years) got a self-completing questionnaire with 6 questions. Results. 1st position: Genomic dactyloscopy is a modern method for the investigation of dermatoglyphic patterns (Yes-90%). 2nd position: I'd like to be examined by technique of genomic dactyloscopy (Yes- 52%). 3rd position: I am informed about predictive medicine (Yes - 10%). 4th position: I'd like to have the information on my gene mutations predisposing to some common diseases (Yes -34%). 5th position: Do you want to have your genetic certificate? (Yes - 28%, all of them are the younger generation of doctors). 6th position: What do you think about ethical, legal and social aspects of predictive medicine? (Absence of problem -2%, confidentality-92%, privacy - 96%, dread of cloning - 5%, questions of financing - 80%) These findings like our previous reports corroborate the low level of genetic knowledge of our doctors and citizens. It is very important to create special programme to educate our population on medical genetics and predictive medicine.

Life events and psychological risk in individuals entering the protocol of pre-symptomatic testing for FAP-TTRMet30.

S. Albuquerque¹, J. Sequeiros^1,2, C. Paúl^1,2;
¹UnIGENe-IBMC, Univ. Porto, PORTUGAL, ²ICBAS - Univ. Porto, Porto, PORTUGAL.

Life events may have an important impact on psychological risk of persons who are at genetic risk for a deleterious inherited disease. We made a qualitative analyses of psychological interviews of 23 individuals at-risk for familial amyloid polineuropathy (FAP), type I or TTRMet30, the first to enter our protocol of pre-symptomatic testing for this disease. Thus, we chose 4 categories of history of life events that might influence the present psychological conditions of individuals at-risk: (1) separation (emotional separation from significant others); (2) change (change of environment - school, home, other - e.g., due to the death of an affected parent); (3) contact (contact with patients and knowledge derived about the disease); (4) care-giving (taking care of an affected relative). We hypothesised that those events of personal history may turn them more fragile, increasing their psychological risk during the pre-symptomatic testing process, as measured by the "Psychopathological Symptoms Inventory" (BSI) (Derogatis, 1982). The 'psychosis index' varies significantly (F(1,22)=4,169, p<0,05) with the experience of separation (1); the 'phobia/anxiety index' varies significantly (F(1,22)=7,998, p<0,01) with the experience of change (2); the 'positive symptom index' (F(1,22)=6.297, p<0.02) and the 'somatisation index' (F(1,22)=6.924, p<0.02) both vary significantly with the experience of care-giving of that person (4). Contact did not influence any indices studied. In conclusion, some life-history events seem to influence negatively the present psychological condition of individuals at-risk and may be an indication for being more cautious in the procedures of the pre-symptomatic testing protocol, namely in delivering test results to those individuals.

R. Timman^1,2, R. Roos¹, A. Maat-Kievit³, A. Tibben¹;
¹Leiden University Medical Centre, Dept. of Neurology, Leiden, NETHERLANDS, ²Erasmus University Rotterdam, Dept. of Medical Psychology & Psychotherapy, Rotterdam, NETHERLANDS, ³Erasmus University Rotterdam, Dept. of Clinical Genetics, Rotterdam, NETHERLANDS.

Objective
In general, studies on psychological consequences of predictive testing for Huntington disease (HD) revealed few harmful consequences for identified gene-carriers and little relief in non-carriers. Little attention has been paid to the characteristics of individuals who were lost to follow-up, as it is difficult to get access to this group. Therefore, the adverse effects in carriers and non-carriers may be underestimated.
Subjects and methods
In the long-term follow-up of predictive testing for HD 180 test applicants completed questionnaires which assessed future expectancies (Beck Hopelessness Scale), intrusion of adverse ideas and denial-avoidance reactions (Impact of Event Scale) and general well being (General Health Questionnaire).
Results
After receiving the DNA test result, 39 persons (22%; 18 increased risk, 21 decreased risk) did not return for follow-up and additional counselling (dropouts). After 7-10 years, about 69% is lost to follow-up. There were no differences between non-carriers who did return (participants), and dropout non-carriers. Dropout carriers had reported at pre-test significantly more hopelessness (F_(1,76)=6.5; p=.013), more intrusive thoughts about HD (F_(1,76)=13.4; p=.000), more avoidance behaviour (F_{(1, 76)}=10.1; p = .002) and a worse sense of well-being (F_(1,76)=7.0; p=.010), than participating carriers.
Conclusions
People who are vulnerable to psychological distress may have reacted with extreme denial of an unfavourable test outcome and avoidance of the messengers of the bad news (geneticists) and their associates (psychologists-researchers). Oral information by relatives supports these speculations. Studies reporting few harmful effects by identified carriers may have underestimated the real impact of the test results.

J. Hirst¹, S. Ahmed¹, C. Hucknall¹, J. M. Green¹, H. S. Cuckle¹, J. Thornton¹, R. F. Mueller², J. Hewison¹;
¹University of Leeds, Leeds, UNITED KINGDOM, ²St James' University Hospital, Leeds, UNITED KINGDOM.

Introduction:
This paper will present details of an ongoing ESRC/MRC funded study comparing the attitudes of different social and ethnic groups to prenatal testing. The findings from the pilot study will also be presented.
Background:
Advances in DNA technology mean that a wider range of prenatal tests will soon become available. Obtaining separate informed consent for each condition is likely to cause confusion and provoke considerable anxiety amongst parents. A classification system is therefore required and needs to be built upon parents' attitudes to testing and their perceptions of the similarities and differences between conditions.
Research Design:
The attitudes of several hundred postnatal Pakistani and indigenous 'white' women towards prenatal testing, for a range of conditions, are being compared using quantitative and qualitative data. The effect on attitudes of educational level is also being assessed. The acceptability of the classification system will be assessed amongst maternity service users, providers and voluntary organisations.
The pilot study assessed women's ability to manage descriptions of 30 conditions ranging in severity and age of onset. Twenty-one women completed the questionnaire and considered whether they would a) want a prenatal test for the condition and b) consider a termination of pregnancy if the test was positive. The results from these 21 participants will be presented.

M. Ahmed¹, C. E. Chu¹, C. G. Woods¹, G. E. Butler²;
¹St James's University Hospital, Leeds, UNITED KINGDOM, ²The General Infirmary at Leeds, Leeds, UNITED KINGDOM.

The birth of a baby with ambiguous genitalia is considered both a medical and a psychosocial ‘emergency’. Sex assignment in a newborn with ambiguous genitalia requires multidisciplinary team effort. Reactions and attitudes to gender ambiguity may vary from culture to culture. The lack of understanding about parents’ attitudes and cultural differences may lead to misconceptions, affecting the desired outcome of such cases. Between 1997 to 2001, 44 cases of genital abnormality were referred to the Yorkshire Regional Genetics Service for chromosome analysis. Twenty of these cases were of Pakistani origin. This paper highlights the reactions and attitudes of two Pakistani families, which was observed during genetic counselling. In the Pakistani culture intersexuals are categorised as ‘Hijras’ - a third sex or a third gender. They are not socially accepted in the wider Pakistani society. These individuals lead their life as outcasts, in their own socially isolated community. This paper will show how intersexuals are conceptualised in the Pakistani culture. This paper will also highlight an ethical dilemma arising from a request of termination of pregnancy from one family with genital ambiguity. The implications for genetic counselling arising from these cultural differences in attitudes towards ambiguous genitalia will be discussed.

T. Brouwer¹, E. Kaats²;
¹VU University Medical Centre, Amsterdam, NETHERLANDS, ²The Netherlands Cancer Institute / Antoni van Leeuwenhoek Hospital, Amsterdam, NETHERLANDS.

In this presentation we share our experience in the decision-making process of counsellees who present themselves with hereditary breast and ovarian cancer (HBOC). Individuals at high risk for HBOC are faced with a number of complex decisions concerning taking (pre)symptomatic gene mutation testing. Visits to the social worker provide assistance during this process.
Studies show that issues to be addressed during these visits, include perception of cancer risk, consequences of DNA testing and compliance with screening. However, these studies do not indicate which tools for psychosocial support may be used. Therefore, we have developed an approach which includes assessment of psychosocial concerns, the individual’s phase of life, relationships with family members, social networks and present coping strategies. Psycho-educational interventions and methods for empowerment are used and focus on highlighting various perspectives of the problem. This approach aims to prevent negative effects to psychosocial well being.
Since 2000, 512 counsellees have been seen. Most of them are emotionally healthy individuals, suddenly faced with the burden of a genetic predisposition and/or a possible treatment for cancer. The family situation may also be burdensome due to existing cancer or a recent cancer related death in relatives. Combining the issues extracted from the literature with our approach of addressing psycho-social concerns has resulted quite consistently in a well-balanced decision to take a screening test or to postpone the test, being emotionally prepared to accept the consequences in both cases.
We suggest that our approach to decision making may prevent psychosocial problems in counsellees.

C. Mircher, A. Ravel, M. Conte, H. Blehaut, M. Rethore;
Centre Médical Jérôme Lejeune, Paris, FRANCE.

Life expectancy in intellectual disability people is increasing as in normal population. In Down syndrome, it was 9 years old in 1930, and now more than 60.
This increasing life expectancy is in relation to a better medical care during infancy, but ageing results in others diseases and in important social problems. We compared health status of three groups of patients with intellectual disability older than 40: group A: Down syndrome (n=112), group B: others chromosomal abnormality (n=7), group C: unexplained intellectual disability (n=25). Social data were compared. These data are retrospective from their medical records.
Results: As expected, medical and psychiatric complications were more frequent in group A; the observed diseases were in descending order: hypothyroidism, cataract, depression, and epilepsy. Some diseases were seen only in this group (autoimmunity, keratoconus). Thromboembolic diseases were more frequent than expected (5%). From social data analysis, most of those patients were living in their own family, and institutionalisations often happen in an emergency context. To adapt one’s care to one’s personal needs, we created a special document, “the life notebook” to summarise important information (medical, social, personal...); we present it.

Management of women with a family history of breast cancer in the UK North West Region: training for implementing a vision of the future

M. McAllister¹, K. O'Malley², P. Hopwood³, B. Kerr¹, A. Howell⁴, T. Clancy¹, K. Farthing¹, R. Belk⁵, G. Evans¹;
¹Regional Genetics Service and Academic Group of Medical Genetics, Manchester, UNITED KINGDOM, ²Regional Genetics Service and Academic Group of Medical Genetics, St Mary's Hospital, Manchester, UNITED KINGDOM, ³CRC Psychological Medicine Group, Christie Hospital, UNITED KINGDOM, ⁴Dept. of Medical Oncology, Christie Hospital, Manchester, UNITED KINGDOM, ⁵Cancer Genetics Clinic, Christie Hospital, Manchester, UNITED KINGDOM.

Specialist genetics centres in the North West region of the UK, as elsewhere, have experienced an exponential growth in demand for genetic counselling services for women with a family history of breast cancer. We report a strategy to devolve moderate risk breast cancer genetic counselling to the cancer unit level through an integrated education programme for specialist nurses. The training programme and follow-up support for the clinics are described, and evaluation of both the training programme and the pilot breast unit Family History Clinics shows that outcome criteria have been met in all cases. The training includes didactic teaching, role play and clinical experience. To date, 21 nurses have been fully trained, and 5 breast units are now running regular dedicated breast cancer Family History Clinics. A Patient Satisfaction Survey indicates that women with breast cancer family histories are satisfied with the service provided. A limited trainee evaluation has enabled some improvements to be made to the course, and to the follow-up support provided to nurses running their own Family History Clinics.

Facilitated peer group supervision for genetic counsellors: one year's experience.

D. Scotcher¹, G. Hall¹, D. Jerman²;
¹Regional Genetic Service and Academic Group of Medical Genetics, Manchester, UNITED KINGDOM, ²Independent Consultant Supervisor and Counsellor, Manchester, UNITED KINGDOM.

There is an increasing awareness of the potential value of supervision for genetic counsellors (Kessler, 2000). Kennedy (2000) has outlined the merits of different models of supervision: individual, in a peer group, or in a facilitator-led peer group. At the present time it is not routine practice in the UK for genetic counsellors to receive funded supervision during working hours. As experienced genetic counsellors we set up a facilitated supervision group to provide challenge, new dynamics and structure in supervision. This voluntary supervision group of between 6 and 10 genetic counsellors has met monthly for 1 ½ hours over the last year in a neutral environment, facilitated by a humanistic counselling supervisor with an interest in group supervision and no prior experience of genetic counselling. In this paper, we will describe the process of setting up the group, who to include, group size, choosing a supervisor, setting a contract, defining boundaries and aims and anxieties of the group. We will report on the themes that have emerged and evolved over time reflecting the experiences of the group and its growing maturity, from both the supervisees’ and supervisor’s perspectives.

Email as a communication tool for patients with genetic diseases: the Orphanet experience

Web sites and email are nowadays important resources that provide access to medical information on genetic diseases and advice that patients and health care professionals may otherwise never receive. Our experience in this area is based on Orphanet, a European internet-based information database on rare diseases which has a growing readership now averaging over 75 000 individuals each month, half of them being patients or their relatives. Orphanet receives an average of 65 unsolicited emails each month with requests for medical information and advice. We categorised the e-mails according to whether responding according to a predetermined strategy would pose any ethical, professional or legal problems and which type of response would be most appropriate. All unsolicited e-mails received between January 1, 2001 and June 30, 2001 were included in the audit. Using a general strategy would pose a problem in only 3% of cases and 9% fall into a "grey zone". With regards to the strategy, the majority of the e-mails could be answered using a general response (84%), 7% would warrant an explicit suggestion to see a physician, 7% would require some degree of medical expertise to respond, and 2% remain in the "grey zone" with regards to how to respond. Producing a strategy for responding to unsolicited emails has allowed Orphanet to continue to orient and educate database users while reducing the number of difficult dilemmas, reducing the workload involved, and most importantly, protecting patients by advising that they seek proper medical care in person from qualified professionals.

H. Skirton^1,2, C. Patch³, C. Barnes⁴;
¹University of Wales College of Medicine, Cardiff, UNITED KINGDOM, ²Taunton and Somerset NHS Trust, Taunton, UNITED KINGDOM, ³University of Southampton, Southampton, UNITED KINGDOM, ⁴Guy's and St Thomas's NHS Trust, London, UNITED KINGDOM.

Genetic services are established throughout Europe, although levels of service vary and some have minimal input from non-medical professionals (genetic nurses or counsellors). Skilled health professionals are increasingly needed to interpret the benefits or otherwise of genetic advances for the health of individuals. Non-medical genetic counsellors can provide services and so enhance access and equity for the population. To ensure safety, standards of professional practice must be established. In the United Kingdom (UK) and The Netherlands, formal processes have been established to ensure genetic counsellors can deal with the complex scientific, ethical, social and psychological issues involved in genetic counselling.
In the UK, a profile of genetic counsellors in current practice has provided a baseline for assessment of the new registration process. Of 150 counsellors who provided data on their current post, professional background, educational preparation and ongoing training needs, 83% are educated to degree level, and 77% are registered nurses or midwives. Fifty-three percent have a generic post in a genetic centre, while 24% work in disease-specific posts. Of concern is the finding that 32% consider they have current unmet educational needs. Sixty-nine percent intend to register formally as genetic counsellors.
The experiences of individual countries should contribute to building a platform for the development of the genetic counselling profession in Europe. Although health systems, education and cultural differences make a formalised Europe-wide registration system impractical, it may be possible to develop European guidelines for good practice that are adaptable to the needs of each country.

H. C. Gooding¹, B. Wilfond¹, K. Boehm-Frassrand², B. B. Biesecker¹;
¹NHGRI/NIH, Bethesda, MD, ²NIDCR/NIH, Bethesda, MD.

The teaching of bioethics often uses challenging cases. However, these cases may cause harmful messages to be received by specific communities. We present as an example the “Case of Dwarfism,” developed shortly after the discovery of the common mutation for achondroplasia in 1994. This case describes a couple, both affected with achondroplasia and expecting a child, who plan to terminate the pregnancy if prenatal diagnosis reveals the fetus is of average stature. It is often employed as a teaching case for US health professionals, designed to stimulate debate over their role as the gatekeepers of access to genetic testing. It also compels audiences to examine their views on reproductive freedoms and the limits of parental autonomy. While this case may challenge stereotypes about the appropriate uses of prenatal diagnosis, it potentially fosters a more subtle stereotype about the community it intends to serve. It presents people with achondroplasia as motivated to make reproductive decisions based merely on perceptions of their physical features. Yet, a recent study of people affected with achondroplasia revealed that the majority considered knowing the prenatal diagnosis of average stature unimportant and that only 2% would consider termination based on this finding. Using this case to challenge the view of what makes for a “healthy baby” may actually deny that those with achondroplasia simply share the common parental desire for healthy children. While such cases remain important teaching tools in genetics, we should be aware of our own inadvertent messages and their potential for creating discriminatory attitudes.

L. Kerzin-Storrar, D. Craufurd, T. Clancy, D. Donnai, R. MacLeod, A. Read, D. Scotcher;
Regional Genetic Service and Academic Group in Medical Genetics, St Mary's Hospital, Manchester, UNITED KINGDOM.

We report our experience of running the first Masters level genetic counselling course in Europe. The programme provides vocational training for genetic counsellors and has contributed to psychosocial genetic research. The students and staff have helped to inform the evolving genetic counselling profession in Europe, including advice to new training programmes and defining requirements for genetic counsellor training and registration. The two year course initially had an annual intake of 4-6 students, but has now expanded to take 8-10 new students each year. 62 students have enrolled on the course (including 14 current students); while most students have a relevant first degree, they also have varied backgrounds, including nursing (18 of 62), community based health or social care experience, and education. 47 students have completed the course to date. Of these, 37 are currently working as genetic counsellors (30 in the UK, 1 in Ireland, 6 outside Europe), 5 are working in genetic counselling research, 2 are completing further academic qualifications, and 3 are not currently employed in genetics. Although the science of human and clinical genetics is an important aspect of the training, a psychosocial approach to genetic counselling practice and research is promoted. This is reflected in the choice of research project with the majority choosing qualitative studies of patients/families’ views and experiences. Collectively the students’ projects have produced a significant contribution to the body of genetic counselling research, through publication and presentation at scientific meetings including past EMPAG meetings.

J. Turner, A. Green;
National Centre for Medical Genetics, Our Lady’s Hospital for Sick Children, Dublin, IRELAND.

The Irish traveller population are a distinct ethnic minority group with origins going back to the 12^th century. They are a small minority group, making up 0.5% of the Irish population ( approximately 25,000 people), however, as they have a history of intermarriage, there are at least 30 autosomal recessive conditions seen more prevalently in the Irish traveller population than the general population . As with other ethnic minorities, genetic health professionals must be sensitive to the social and cultural values of a particular ethnic group before genetic counselling to ensure the accessibility and suitability of their service. With this in mind, a working group was set up to evaluate the need for such a service, the accessibility of the current service and factors which may influence uptake of such a service. We, together with representatives of the Irish traveller organisation, other medical professionals and the clergy, have created a development plan to address problems with the need, accessability and suitability of our genetic counselling service. Problems highlighted included maintaining cultural norms, preliteracy, nomadic lifestyle, distrust of authority and preserving individual autonomy against a background of strong family unity and strong Roman Catholic beliefs.

Genetic Education and Counseling in Mental Retardation at Primary Health Care Level - Preventive Strategy in India.

N. T. Shetty, U. P. Dave;
Centre for Research in Mental Retardation (CREMERE), Mumbai, INDIA.

Rapid advances in medical genetics and DNA technology in developed countries have emerged with better understanding of the causes and therapy of several genetic disorders. Yet in India, genetic diagnostics is misperceived as expensive, and concerned with rare disorders, partly due to the limited resources and technically skilled personnel.
CREMERE - a tertiary Genetic Centre therefore organized genetic education to community heath volunteers (CHVs) (N>400), working at primary health centres located in slum, semi-urban and rural areas. The training covered detection of mental retardation, causes (environmental and/or genetic), genetic tests, recurrence risk and pregnancy monitoring with reproductive options.
It was surveyed that parents were largely unaware about nature of the genetic disorders, hereditary factors and existing genetic diagnostic services. The trained CHVs successfully detected the MR cases with genetic factors and told the parents about the training and rehabilitation aspects. Monitoring in future pregnancy using triple marker screening and fetal ultrasound were explained. The concept of prenatal diagnosis, yet not evolved, could be integrated at the community level.
We encountered various barriers like religious and social misconcepts, family traditions and cultural beliefs. Lack of genetic team approach, sophisticated laboratory infrastructure, technically skilled genetic personnel and unawareness of existing genetic services was perceived as the main constraints.
Genetic counseling done in a few cases depicting the different socio-economic, emotional and medical problems, and measures adopted to overcome these will be discussed. Integration of genetic services for prevention of genetic disorders associated with mental retardation was feasible through this community education attempt.

Joint research on the problem of colourblindness. A study in Calabria and Basilicata (Continental Southern Italy)

A. Tagarelli¹, A. Piro¹, G. Conforti², P. Grassivaro Gallo³, P. B. Lantieri⁴, M. Panza³, D. Risso⁵, G. Tagarelli¹;
¹Istituto di Medicina Sperimentale e Biotecnologie-CNR, Mangone (Cosenza), ITALY, ²Ministero Pubblica Istruzione, Cosenza, ITALY, ³Dipartimento Psicologia Generale , Univerità degli Studi di Padova, Padova, ITALY, ⁴Dipartimento Scienze della Salute, Istituto Statistica Medica e Biometria, Università degli Studi di Genova, Genova, ITALY, ⁵Dipartimento Psicologia Generale , Univerità degli Studi di Padova, Genova, ITALY.

A study of colour-blindness carried out in Calabria and Basilicata (Continental Southern Italy) was based on three disciplines: biology, psychology, and pedagogy. In all, 63,933 students (age range 11-14 years) of both sexes underwent the Ishihara test in order to identify this visual anomaly. Both Calabria and basilicata showed mean frequency of 4.8%, which was evaluated on 32,322 males. Calabria demonstrated a North-South decreasing trend of frequencies, according with the geography of the three ancient provinces: Cosenza (CS), 5.6%; Catanzaro (CZ), 4.6%; and Reggio Calabria (RC), 3.9%. The frequencies were significantly different among the three provinces: CS vs. CZ, p<0.001; CZ vs. RC, p<0.025; CS vs. RC, p<0.0005. The answers to a psychological questionnaire (18 questions) from 831 colour-blind students were significantly different from those of the 34,309 orthocromatics chosen according to statistical criteria. Statistical quantitative analyses were made by Kruskal-Wallis test, Friedman test, and Sign test; qualitative statistical analyses were made by chi square test, and that of McNemar. A pedagogical questionnaire (13 questions) of 3,082 teachers of different disciplines confirmed their knowledge of colour-blindness as an anomaly (39%), with 58% confirming their knowledge came only through hearsay, while the rest admitted to not know anything about colour-blindness
Research financied by Fondazione Cassa di Risparmio di Calabria e Lucania (Cosenza)

Psychological and Neuropsychological Findings in Adults with the Premutation and Full Mutation for Fragile X Syndrome

R. Wilson¹, J. H. Epstein¹, K. McKelvie¹, J. Grisgby², H. Nagamoto³, S. Harris⁴, A. Reynolds¹, R. Hagerman⁴;
¹The Child Development Unit, Children’s Hospital, Denver, CO, ²Dept. of Medicine, University of Colorado Health Sciences Center, Denver, CO, ³Dept of Psychiatry, University of Colorado Health Sciences Center, Denver, CO, ⁴MIND Institute, University of Davis Medical Center, Sacramento, CA.

Emotional and neuropsychological test results will be presented from a three-year genotype-phenotype study of families with a member diagnosed with Fragile X Syndrome. Variables were collected from American (N=172) and Australian (N=109) adult subjects. Subjects were administered a battery of cognitive, emotional, and neuropsychological measures. Family members found to have neither the premutation or full mutation for Fragile X served as controls.
Family members who carry the premutation or full mutation for fragile X have been clinically described to manifest a number of psychological symptoms. These observations are supported with statistically and clinically significant results. Data from two ratings, a self-report and a spouse report were acquired from two instruments, a checklist and a clinical interview. Significant elevations (p<.05) were found in various subject groups for phobic-anxiety, anxiety, psychoticism, depression, social isolation, introversion and obsessive-compulsive symptoms
Psychological factors as a function of age were also statistically analyzed. For the premutation male group, symptoms of anxiety, phobic-anxiety, depression, general distress, and obsessive-compulsive symptoms increase significantly (p<.05) with age. Age-related changes in symptoms were not found in other subject groups.
Neuropsychological results will be presented on a group (N=8) of older premutation males, aged 62-79. These men have significant executive functioning impairment. Some have neurological difficulties that include intention tremor. A younger group (N=18) of premutation males, aged 28 to 63, will also be presented. A subset (N=6) of these younger men also have significant executive functioning deficits. They do not have other neurological difficulties such as an intention tremor.

R. O'Connor¹, K. Riley², J. Epstein¹, R. Wilson¹, K. McKelvie¹, A. Reynolds¹, R. Hagerman³, R. Levine³;
¹Children's Hospital, Denver, CO, ²University of Denver, Denver, CO, ³M.I.N.D. Institute, University of California, Davis, CA.

Analysis of ADHD subtypes in Fragile X Syndrome
Research in the area of Attention Deficit Hyperactivity Disorder ( ADHD ) has emphasized three distinct subtypes including the Inattentive Type, the Hyperactive/Impulsive Type and the Combined Type. Within the Fragile X (FXS) research, the majority of boys with the full mutation exhibit significant attentional problems with hyperactivity, while females are more frequently described as having attentional problems without hyperactivity. The profiles of males and females with the premutation and mosaic status have not been documented.
118 individuals affected by FXS were assessed for ADHD using the SNAP-IV symptom checklists obtained through spouse report or parent report. Data was divided into comparison groups with regard to gender and DNA status. Analyses were conducted to document and describe the subtypes as they relate to gender and DNA and to determine individual patterns of ADHD subtypes.
Limited numbers of premutation females and males, and mosaic males met clinical criteria for ADHD. Premutation female inattentive scores were significantly greater than hyperactive/impulsive scores. [n=37; (p=.009)], while premutation males inattentive scores were not significantly different than hyperactive/impulsive scores [n=15; (p=.11)]. Mosaic males did not demonstrate a significant difference between subtypes. [n=13; (p=.08)]. A high percentage of females and males with the full mutation met clinical criteria for ADHD. Females and males with the full mutation demonstrated higher inattentive scores than hyperactive/impulsive scores: females [n=20; (p=.0004)]; males [n=27;(p=.0001)].

Emotional well-being after a termination for abnormality: the impact of obstetric and social factors

H. E. Statham¹, W. Solomou¹, J. Green²;
¹Centre for Family Research, University of Cambridge, UNITED KINGDOM, ²Mother and Infant Research Unit, University of Leeds, UNITED KINGDOM.

This paper will use data collected from 148 women during interviews and through postal questionnaires in the year after they made the decision to terminate a pregnancy after the diagnosis of a fetal abnormality. Most of these parents were at no particular risk when they became pregnant and malformations were discovered as a result of routine antenatal care. The relationship between scores on measures of grief and depression and obstetric, social and personal characteristics has been investigated using multivariate methods.
The grief response of mothers is variable but overall, emotional well being improved over time. The principal obstetric variables, gestational age, method of termination and severity of malformation were not related to emotional well being at any time in the year following the termination. We have found no relationship between aspects of care during and after a termination and women‘s subsequent feelings. Aspects of how the diagnosis was made, specifically satisfaction with getting the diagnosis and ease or difficulty of getting a diagnosis were independently related to mothers‘ feelings after a termination. The emotional support that women perceived they were getting from their partner was strongly related to mood both in the short and long term after a termination. A year after a termination, there was a significant relationship between subsequent pregnancies and women‘s feelings.
The implications of these findings for the care and support of women undergoing a termination for abnormality will be discussed in this paper.

Attitudes towards genetic testing in a representative German sample. The influence of sociodemographic characteristics

H. Berth, A. Dinkel, F. Balck;
Universitätsklinikum Dresden, Medizinische Psychologie, Dresden, GERMANY.

Background: Pre- and postnatal genetic testing have become a widely used means for the assessment of individual risk for hereditary diseases. In Germany, virtually no empirical data concerning attitudes towards gene tests have been available, so far.
Purpose: In order to explore the attitudes of the German public, we conducted a survey regarding general attitudes towards genetic testing in a sample representative for the German population (N = 2.076).
Methods: We used a subset of 13 statements out of a larger questionnaire set used in a Finnish survey. The items related to approval, disapproval, and concern for genetic testing.
Results: The results reveal that there is wide acceptance of genetic testing in the German population, about two-thirds hold a positive view. Yet, possible disadvantages are also recognised. A factor analytic analysis of the items yielded three distinct factors (approval, disapproval, concern for genetic testing). The MANOVA model revealed differences concerning attitudes towards genetic testing between various sociodemographic groups. The clearest differences emerged for religious affiliation. Members of a religious group consistently indicated a less favourable view of gene tests. Furthermore, subjects who had attained a higher educational level showed ambivalent attitudes, i.e. they scored higher on both approval and disapproval.
Discussion: In general, there is widespread support for genetic testing in the German population, but the approval of gene tests is not as high as in Finland. Similarly to a Finnish general population study, we found influences of sociodemographic characteristics on general acceptance of gene tests.

Measurements of Breast Cancer Risk Perception: An Ongoing Study in the General Public.

F. Reitz, J. Barth, A. Helmes, J. Bengel;
University of Freiburg, Institute of Psychology, Rehabilitation Psychology, Freiburg, GERMANY.

Breast cancer risk perception is an important predictor of the intention to obtain predictive genetic testing for breast cancer risk. However, many women tend to overestimate their own risk. To understand this bias it is necessary to take problems of measurement into consideration. Many studies found that open-ended probability scales lead to an increased use of the 50% option, maybe as an expression of having difficulties with understanding and using probabilities. This could lead to problems in the comparison of empirical (i.e. Gail) and personal risk estimates.
In the context of the ongoing study AttRisk a random sample of women of the general public recieved an information letter. Women completed a brief telephone survey that assessed eligibility criteria and risk status. Eligible participants were mailed a longer questionnaire and a consent form with a return envelope. Four different measurements were used for breast cancer risk estimates: a) opend-ended probability scale b) visual analog scale, c) 7-point-scale and d) 5-point-scale to assess the personal risk in comparison to peers. Additionally, they were asked how certain they were in each judgement.
To date, data from 218 respondents has been collected (response rate: 59%). About 84% were women with neither FDRs nor BC. About 20% reported a personal risk of 50%. There were strong positive correlations between the measurements (a-c) except for the comparison scale (d). Respondents reported a moderate level of certainty for each response mode. They felt more certain in using the comparison scale compared to the other measurements.

A. M. Wilson, M. P. M. Richards;
Centre for Family Research, Cambridge, UNITED KINGDOM.

Discussions of lay and professional scientific knowledge suggest a wide range of possible interactions between people's existing understanding of particular situations and those they may draw on from scientific work (Wynne, 1991). Lay ideas about inheritance may be developed early in childhood in the context of the family and grounded in concepts of kinship, reinforced by everyday social activities and relationships. Such ideas might be particularly resistant to change and may conflict with Mendelian explanations, making the uptake of these scientific accounts of inheritance difficult (Richards 1996, 1998, Richards and Ponder 1996). This hypothesis has implications for genetic counselling, the teaching of genetics and public knowledge in general.
The hypothesis is being investigated in a qualitative study of young peoples' connections between concepts of inheritance, genetics, family and kinship. Interviews use open questions, which encourage participants to explore, in their own words, the concepts of inheritance, genetics and kinship; some specific questions focus on participants' familiarity with genetic terms; a series of vignettes examines issues of duty and obligations between family members. Forty young people and parents of young children have been interviewed to date.
The main research questions are:
a)What are the participants' concepts of inheritance and of the processes by which inherited characteristics are transmitted by parents to their children?
b)What are the participants' concepts of kinship and how are these related to concepts of inheritance?
This poster will illustrate the findings from interviews so far completed.

Psychological well-being in individuals requesting pre-symptomatic testing for late-onset neurological diseases and controls

Â. M. T. Leite, C. Paúl, J. Sequeiros;
Instituto de Biologia Molecular e Celular, Porto, PORTUGAL.

Psychological issues are important for counselling and intervention in late-onset diseases, namely in the process of adjustment to the results of genetic testing. Our aim was to evaluate psychological wellbeing in persons coming for pre-symptomatic testing.
We studied 30 at risk-individuals (15 men/15 women), aged 18-70 (mean 26.9 years), who requested testing, when compared to 200 controls from the general population, using the "Psychological General Wellbeing" scale of Dupuy (22 itens, 6 subscales). The study-group included persons at risk for familial amyloid polyneuropathy (24), Huntington disease (5) and Machado-Joseph disease (1). Both individuals at-risk and controls were currently healthy.
Pre-symptomatic individuals showed better indicators regarding (1) humour (F=10,229; p<0.002) and (2) health and wellbeing (F=4,676; p<0.032), but not (3) concern with health. This was in agreement with the item analysis, which was significant for self-control (F= 10,991; p<0.001), nervousness (F=4,345; p<0.038), melancholy (F=4,759; p<0.030), tension (F=23,955; p<0.000), sadness (F=6,008; p<0.015), restfulness (F=5,148; p<0.024), vigour (F=20,058; p<0.000), anxiety (F=6,442; p<0.012), happiness (F=6,845; p<0.009), and stress (F=12,689; p<0.000). In all these, the pre-symptomatic group had more favourable indicators of psychological well-being than controls.
One may have expected that individuals at-risk who came for pre-symptomatic testing were more concerned about their health and showed more adverse indicators regarding their psychological wellbeing. Our results, however, proved to be different, and may suggest (a) a defensive and denial attitude from the group of individuals at-risk, and/or that (b) these are psychologically more resilient, what may have motivated adhesion to pre-symptomatic testing, through their own auto-selection.

A. Dinkel¹, H. Berth¹, F. Kreuz², F. Balck¹;
¹Universitätsklinikum Carl Gustav Carus, Medizinische Psychologie, Dresden, GERMANY, ²Universitätsklinikum Carl Gustav Carus, Institut für Klinische Genetik, Dresden, GERMANY.

Background: As more reliable and low-cost gene tests become available, knowledge of genetic concepts is increasingly relevant. Adequate understanding of gene technology is necessary to provide informed consent to genetic testing. Furthermore, genetic knowledge is necessary for participation in the public discourse about the further advancement of gene technology.
Purpose: In order assess lay people’s basic genetic knowledge, Furr & Kelly (1997) developed the Genetic Knowledge Index (GKI). We translated the items of the GKI, and we aimed to investigate its usefulness in the German population.
Methods: The GKI which comprises five true-false-items was administered to N = 420 individuals. This complete sample consisted of three subsamples: n = 131 persons from the general population, n = 129 medical students, and n = 160 students from other faculties.
Results: The total score of the GKI discriminated between the three groups. However, the internal consistency of the GKI was very low. There were no significant correlations between the GKI score and external criteria (self-reported interest in genetics, self-evaluated general knowledge of genetics, attitudes towards genetic testing, and a genetic knowledge index based on questions from the medical state examination). Furthermore, the factorial solution was different from the original study.
Discussion: Because of the weaknesses in reliability and validity, the German version of the GKI seems not to be an appropriate tool for assessing genetic knowledge. Further refinement is necessary. We propose to add further items covering a wider range of genetics and thus to increase the content validity of the questionnaire.

P. L. Beales¹, S. Barnett², S. Reilly³, L. Carr¹, I. Ojo⁴, T. Charman¹;
¹Institute of Child Health, London, UNITED KINGDOM, ²University College London, London, UNITED KINGDOM, ³LaTrobe University, Melbourne, AUSTRALIA, ⁴St. George’s Hospital, Hornchurch, Essex, UNITED KINGDOM.

Background:
Although behavioural characteristics, including disinhibited behaviour, an inability to recognise social cues and obsessive and compulsive tendencies, have been noted in individuals with Bardet-Biedl syndrome (BBS), to date no studies have systematically studied the behavioural phenotype.
Method:
Parents of 21 children with BBS seen for a multidisciplinary clinical assessment completed standardised measures of behaviour.
Results:
Children with BBS showed elevated levels of internalising problems including feeling withdrawn and anxious/depressed. They also had elevated levels of social, thought and attention problems. A significant minority scored in the clinical range on a measure of autistic symptoms, although none met clinical diagnostic criteria. The children also had elevated scores on a measure of repetitive behaviour and the majority was reported to be obsessive by their parents.
Conclusions:
These findings indicate considerable clinical need that had been unmet in many families. Further, they suggest that BBS has a characteristic behavioural phenotype that may be related to mutation type.

Decision Making Factors Associated with Whether to Receive BRCA1/2 Genetic Test Results

K. A. Calzone¹, A. Eisen², K. Armstrong¹, J. Stopfer¹, M. Racioppo¹, J. C. Coyne¹, B. L. Weber¹;
¹University of Pennsylvania, Philadelphia, PA, ²Hamilton Regional Cancer Center, Hamilton, ON, CANADA.

Study Design: Retrospective study of individuals offered research BRCA1/2 mutation analysis results.
Instrumentation: Self administered questionnaire assessing: 1) factors involved in the decision whether to receive results; 2) basic cancer genetics knowledge.
Participants in a breast/ovarian cancer family study were offered results from BRCA1/2 mutation analysis. 70 individuals (58%) completed this survey of which 46% chose not to receive their test results. The most important factor influencing the decision about receiving results was the desire for specific cancer risk information, followed by having information for children, concern about genetic discrimination for children, and use of results to help with cancer screening decisions. Using the information to assist in decisions about chemoprevention, prophylactic surgery, childbearing, concern about worry/anxiety, difficulty finding time to get results and competing demands of caring for an ill relative were ranked as less important. There were no differences in knowledge of basic cancer genetic concepts between those who received and did not receive results. Those who chose not to receive results considered concern that results might cause worry/anxiety and difficulty finding time for genetic counseling more important and obtaining specific cancer risk information less important (p values <.02). These results suggest that the desire to obtain more specific cancer risk information was the most significant factor associated with the decision to obtain test results. Concern about results causing worry/anxiety and finding time for genetic counseling were not ranked as important but were associated with the decision not to receive results. Implications for genetic counseling will be discussed.

Changes in Approach to Children with Down syndrome in the Cyprus Society over the Past Seven Years.

E. Spanou Aristidou¹, A. Kotti Kitromilidou², V. Christophidou Anastasiadou^1,2;
¹The Cyprus Institute of Neurology and Genetics, Nicosia, CYPRUS, ²Archbishop Makarios III Hospital, Nicosia, CYPRUS.

Cyprus is a small island in the eastern Mediterranean with a population of approximately 700,000. This constitutes it a small and rather closed society. In the past, differences were stigmatized and in particular individuals with Down syndrome tended to be isolated and institutionalized.
Seven years ago the general genetics services were established on the island and were offered primarily by a clinical geneticist and a genetic counsellor. Also through these new services a program of public education was developed. These two factors in conjunction were responsible for the change in perception of Down syndrome within society.
The majority of babies born with Trisomy 21 were referred to the genetic services so that support was offered initially and subsequently guidelines for early intervention were established.
Most of these children are now attending regular schooling as opposed to being institutionalized. They are integrating well with their peers and the education system is slowly, but surely adapting to cater to their needs.
We believe that the same factors that caused the stigmatization, the size and closeness of the population, were beneficial to the rather quick change in approach of this society.

M. Rubczewska¹, A. T. Midro¹, L. Anderlik², S. Stengel-Rutkowski³;
¹Department of Clinical Genetics, Medical Akademy in Bialystok, Bialystok, POLAND, ²Kinderzentrum, University of Munich, Munich, GERMANY, ³University of Munich, Munich, GERMANY.

Trisomy 16q, a rare finding in clinical genetics, is yet poorly understood in terms of behaviour phenotype. Starting with a single case of partial trisomy 16q with dysmorphic, clinical, and cytogenetic traits, we undertook a detailed qualitative study of a behavioural profile of trisomy 16q. We performed the qualitative analysis of static images extracted from a video recording of a therapist-guided playwork was conducted in a structured environment according principles and philosophy of Maria Montessori. Our observation revealed that the tested persons were provided with a wide range of psychomotoric skills ( the ability to follow movements of second persons or moving objects or to keep the attention focused despite involuntary movements or an ability to react to repeating invitations to act, sound or touch), social abilities ( the ability to establish eye contact or the ability to display an outward reaction in response to demonstrated objects or the ability to approach other persons or objects) and emotional capacities ( manifestations of proudness, boredom or interests or the ability to focus the attention on sound or the ability to use the therapist‘s support). This knowledge on behavioural features and prospective development modalities of children with trisomy 16q is important for genetic counselling in order to determine the development prognosis.

The Evolution of Clinical Genetic Referrals in Cyprus Over the Past Seven Years.

V. Christophidou Anastasiadou^1,2, A. Kotti Kitromilidou², E. Spanou Aristidou¹;
¹The Cyprus Institute of Neurology and Genetics, Nicosia, CYPRUS, ²Archbishop Makarios III Hospital, Nicosia, CYPRUS.

Clinical genetic services, other than those offered for the Thalassemias, were established in Cyprus in 1995.
This clinic covers the whole population of the Cyprus Republic (population 700.00), and for a vast variety of disorders.
During the first years the referrals from physicians and other health professionals were limited. One of the primary reasons for this was probably a lack of relevant education. Gradually, there has been a significant increase in the rate of physicians requesting the services of clinical genetics. Referrals have increased particularly from the pediatric specialties and other health professionals caring for children with special needs.
We are presenting the data illustrating this increase and will discuss the factors that we believe have changed the approach of health professianals towards the clinical genetic services.

E. Hoffmann, B. Press, J. Pelz;
Reformstudiengang Medizin, Charité Campus Mitte, Berlin, GERMANY.

The phrase 'genetic disease' is heard on a daily basis, but the concept 'genetic disease' is far from clear. Most human diseases have a complex aetiology, involving genetic, physiological, psychological, etc. factors on their causal pathway. Genetic explanations of a disease are highly context dependent (state of knowledge, background of nongenetic factors, study population).
Even with a complete knowledge of aetiology a classification of diseases in terms of cause would not be satisfactory. Diseases have to be described in terms of aetiology as well as in the pathology and pathophysiology which results.
Six groups of students of medicine differing in their level of clinical and theoretical experience (1st, 2nd, 3rd and 6th year of medical education, 300 from the regular curriculum, 100 from the reformed curriculum) were interviewed by a structured questionnaire focussing on their concept of disease in general and genetic disease in particular, the latter understood as a causally oriented classification on the one hand and as an assignment to the specialty human genetics within the realm of medicine on the other.
Answers of study participants reflected the present prominence of human genetics for the diagnosis of monogenetic diseases and diseases with a well established mode of inheritance; they highly overestimated the importance of human genetics in the diagnosis of multifactorial diseases and in therapy and prevention of disease with a known genetic aetiology. The teaching of medicine has to place more emphasis on the development of a realistic estimation of human genetics for medical practice in general.

S. van Dijk, W. Otten, M. Zoeteweij, D. Timmermans, C. van Asperen, N. van Duijn, M. Breuning, J. Kievit;
Leiden University Medical Centre, Leiden, NETHERLANDS.

Introduction
Although genetic risk counselling improves the accuracy of women's perceptions of the risk of developing breast cancer, many women still tend to over -or underestimate their risk. To understand the way in which women perceive their risk, we collected interview data of women who applied for genetic counselling. We assess how women verbalise their personal risk. Furthermore, we investigate how the risk information provided in the counselling influences the way women spontaneously express their risk. Finally, we inquire what being at risk for familial breast cancer means to these women.
Method
We collected data of 86 women who participated in a face-to-face interview after their genetic consult on breast cancer. Women were asked to describe their personal risk in their own words, and were invited to reflect on the meaning of the risk. In addition, the clinical geneticists completed a checklist to document the information provided in each individual consultation.
Results
Preliminary analysis shows that the majority of the women chose to use a verbal format to express their personal risk. Many women spontaneously mention negative emotions associated with the risk; “I’m afraid to die young”; or “It’s frustrating to go on living with an uncertainty like this”. Furthermore, many women reflect on actions to escape the risk: “no evening passes by, without me checking [my breasts]”.
Discussion
We will discuss the results with respect to psychological distress and coping with the risk for familial breast cancer, and whether this implies recommendations for counselling.