EMPAG Concurrent Sessions

Attitudes of Dutch general practitioners, pediatricians and gynecologists towards cystic fibrosis carrier screening

M. J. H. Baars, L. Henneman, M. C. Cornel, L. P. Ten Kate;
VU University Medical Center, Amsterdam, NETHERLANDS.

Objective To investigate attitudes of general practitioners (GPs), pediatricians (PEDs) and gynecologists (GYs) towards cystic fibrosis (CF) carrier screening and to determine factors influencing these attitudes.
Methods A questionnaire developed by Hofman et al (Acad Med 1993; 68: 625-32) containing questions about knowledge and attitudes towards genetics (tests) was adapted to the Dutch health care system. Questionnaires were sent to randomly selected GPs (n=200), GYs (n=300) and PEDs (n=265). Multiple logistic regression identified predictors of positive attitudes towards CF carrier screening.
Results The response rate of GPs, GYs and PEDs was 64%, 69% and 72%, respectively. Of the respondents 63% of GPs, 69% of GYs and 71% of PEDs agreed that couples should be tested if they ask for it. Of the respondents 32% of GPs, 40% of GYs and 32% of PEDs favored routine screening when a hypothetical error free inexpensive test would be available. However, after explaining limitations in the test sensitivity (95% detection rate for individuals) these percentages decreased to 16%, 19% and 25%, respectively. Predictors for offering routinely CF carrier screening in the latter situation were [OR (95%CI)]: considering the test sensitivity less important (GPs: [4.2 (1.4-12.3)]; GYs [6.2(1.9-20.7)]), high perceived risk of having a child with CF (GYs: [4.0 (1.2-13.9)]), providing genetic counseling (PEDs: [4.2 (1.2-15.0)]) and reassurance when both partners test negative (PEDs: [4.3 (1.6-11.8)]).
Conclusion Although approximately two-thirds of physicians support performing CF carrier screening when couples ask for it, more reservations are present among these physicians for routinely offering CF carrier screening.

Feasibility and acceptability of two screening strategies for haemochromatosis, report of phase one of a randomised controlled trial.

C. Patch¹, P. Roderick¹, W. Rosenberg²;
¹Health Care Research Unit, University of Southampton, Southampton, UNITED KINGDOM, ²Division of Inflammation, Infection and Repair, University of Southampton, Southampton, UNITED KINGDOM.

Haemochromatosis, a treatable, adult-onset condition of progressive iron overload is amenable to screening. Initial enthusiasm for screening to increase early diagnosis has been modified since the identification of the HFE gene. The risk of disease attributable to the at-risk genotypes, and disease progression in those diagnosed is not established. Screening trials will identify individuals in whom these questions can be evaluated. Evaluation of these programmes should include evaluation of sensitivity and specificity and all the components of the programme e.g. uptake, population characteristics and effectiveness of treatment.
Design: Randomised controlled trial of two screening strategies.
a) Biochemical screening for iron overload followed by genetic analysis and clinical assessment
b) Genetic screening for the at risk genotype followed by biochemical testing for iron overload and clinical assessment.
Sample: General practice population aged 30-70 stratified by age and sex
Findings: 1438 individuals were invited; initial acceptance was approximately 30%. Uptake was higher in females than males, specifically in older females. Middle-aged men who would be expected to have a higher risk of expressing the at-risk genotypes were less likely to accept the offer of screening.
The allele frequencies for the haemochromatosis associated alleles were greater than would be expected from previous population studies.
Discussion: In this pilot of population based screening in primary care, the low uptake of screening and the characteristics of the population that accepted screening have implications for the design of treatment or screening trials for haemochromatosis that merit further investigation.

Coping strategies of pregnant women after "triple-diagnostic" and those of their partners

Objective: To compare coping strategies of pregnant women after the triple-diagnostic and of their partners. To point out the importance of the genetic counselling. Background: The triple-diagnostic has become a standard prenatal screening-method and involves a combination of three serum parameters with personal data to define the individual’s probability for a fetal trisomy 21. This screening often takes place without giving sufficient information. A "bad result’ is mostly equated with a handicapped child. Methods: Our investigation was carried out by questionnaires. The answers of 92 women after "triple-diagnostic’, genetic counselling and prenatal diagnosis and of 52 of their partners were evaluated. Results: Only 2/3 of the women were given information about this screening-method by their gynaecologist. A quarter of the partners had been informed by their wives or by the gynaecologist. Half of them had received this information only at genetic counselling. After a pathological triple test, 86% of the pregnant women and 90% of their partners felt depressed; 2% felt activated. After genetic counselling, there was a significant increase to the activated mood (women: 52% were depressed, 34% felt activated; partners 58% and 40%). The coping strategies showed the most significant variation in active coping: after risk information, women 17%, partners 10%, and after prenatal diagnosis, 55% and 45%. 25% of the pregnant women refused invasive prenatal diagnosis after genetic counselling. Conclusion: Genetic counselling plays an important role in the development of positive coping strategies. It should provide information and therapeutic support for pregnant women and for their partners.

L. D. Bryant, J. M. Green, J. Hewison;
University of Leeds, Leeds, UNITED KINGDOM.

Prenatal screening for Down‘s syndrome is now offered in some form to most pregnant women in the UK. However, very little is known about the attitudes that women hold towards Down‘s syndrome and how such attitudes may influence screening choices. This paper presents findings from a study based in an antenatal clinic in the north of England where serum screening was offered to all women attending for antenatal care. Over a six-month period, women in the first trimester of pregnancy were asked to complete a questionnaire that incorporated measures of cognitive, emotional and experiential aspects of attitudes towards Down‘s syndrome. An objective measure of the participants‘ serum screening uptake was then collected at a later date from patient records. The findings suggest that regardless of attitude towards Down‘s syndrome most women accept screening tests. All of the women with the most unfavourable attitudes towards Down‘s syndrome accepted screening as did 67% of those with the most favourable attitudes - despite the latter group holding unfavourable views towards termination for the condition. The findings have implications for the issues of informed choice and the perceived ‘routineness‘ of prenatal screening tests.

Thalassaemia carrier testing in pregnant Pakistani women: perceptions of ‘information’ and ‘consent’.

Introduction: The literature on genetic testing suggests that one of the main objectives of screening programmes is to allow individuals to make informed decisions. However, there is no published research on whether women value informed consent for antenatal thalassaemia carrier testing.
Aims: To ascertain pregnant Pakistani women’s perceived value of ‘informed consent’ for antenatal thalassaemia carrier testing and their perceived pre-test information needs.
Methods: In study 1, 110 Pakistani women tested and not found to be thalassaemia carriers completed a questionnaire, 14 of whom were also interviewed. In study 2, 36 women identified as carriers/possible carriers completed a questionnaire and were interviewed. The questionnaires assessed women’s knowledge and understanding of antenatal tests; their attitudes toward antenatal care and tests for fetal abnormality; their knowledge and understandings of thalassaemia; and their pre-test information preferences. The interviews explored these domains in more depth and investigated women’s beliefs about ‘informed consent’.
Findings: Women had received little or no pre-test information and said that they would have preferred to be informed that they were being tested for thalassaemia carrier status, but they did not expect, or express a desire, to be asked for their ‘informed consent’ for antenatal thalassaemia carrier testing.
Discussion: While women wanted pre-test information in order to be ‘informed’ of antenatal thalassaemia carrier testing, they were less concerned about being asked for their ‘consent’. This finding is discussed in the context of the way in which service delivery is organised.

Breast cancer: South Asian patient's experience, attitudes, beliefs and perception of risk.

Breast cancer: South Asian patients‘ experience, attitude, beliefs and genetic perception.

Karbani, G.A., Chu,C., Hewison, J. and Atkin, K.

Background: Incidence of breast cancer among South Asian women living in the UK is increasing. We know little about how these women make sense of the condition or how health care services can best support this patient group.
Aim: The study aims to examine health care pathways, attitudes, beliefs and genetic perception of risk factors in South Asian women with breast cancer compared with ‘white‘ women.
Method: The study comprised of two groups of women attending breast clinic because of a diagnosis of breast cancer. The study comprised 25 South Asian and 15 'white' women' diagnosed with breast cancer, matched for diagnosis, age, and socio-economic class. This enabled us to explore the role of ethnicity in mediating women‘s responses to the illness. For further context, our work also included the experience of the women's main family carer (n=29) and a health professional involved in their care (n=15).
We collected information using semi-structured qualitative interviews, which were then subject to detailed content analysis.
Findings: The main themes emerging from the analysis include access to service delivery, knowledge of breast cancer, health beliefs, coping strategies, cultural beliefs regarding genetic and other causes of breast cancer, communication about the condition within the family, and the role of health professionals in offering support. The presentation will conclude by exploring how culturally sensitive provision would improve the care of women with breast cancer.

Genetic Testing for Hearing Impairment- Different Motivations for the Same Outcome

M. Sagi¹, O. Dagan², H. Hochner¹, H. Levi³, A. Raas-Rothschild¹, T. Cohen¹;
¹Department of Human Genetics Hadassah Hebrew University Hospital, Jerusalem, ISRAEL, ²Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, ISRAEL, ³Speech and Hearing Center, Hadassah Hebrew University Hospital, Jerusalem, ISRAEL.

The recent discoveries of genes involved in hearing impairment opens new options for families and individuals with hearing impairment, but also raises new ethical dilemmas. Our study aimed at evaluating the intensions, as well as the reasons, of Israeli Jewish parents of hearing impaired children to opt for or against genetic testing and prenatal diagnosis for deafness. Questionnaires were filled by 139 parents, showing a very high interest (87%) in genetic testing, and lower interest (49%) in prenatal diagnosis. Althogh part of the Jewish population in Israel do not comply with genetic services, due to religious restrictions, the high interest in testing was found across all religious sectors (secular, traditional, orthodox and ultra-orthodox); however, some of the reasons for undertaking such a test were very different between the sectors. We conclude that genetic testing would be welcomed by parents from a wide range of communities, including those which usually do not apply for genetic counseling and testing, if it is offered in accordance with their cultural norms and beliefs.

Uses of the body and informed consent for participants in predictive medicine research

On the occasion of the creation of a DNA bank for research in predictive medicine in the south of France, this sociological study deals with an ethical and juridical norm and its application: the principle of free and informed consent of DNA donors-participants. This consent is often said to favour the expression of the patients' "autonomy" towards "medical power": it would make sure that individual freedom in the uses of the body is put in confrontation with the biomedical enterprise. Previous studies have addressed the question of the quality of the consent given by participants. This study rather addresses the way in which they "frame" the consent (they give a meaning and their position in relation to this meaning). Not only their position regarding the procedure but also that towards the concept of consent itself are investigated. The access to this framing is achieved through thorough interviews (planed number = 50). This speech on consent is then mirrored with the participants' uses of the body (or elements issued from the body): these uses are apprehended here through the meaning given by the DNA donors to their involvement in research. The first results show different typologies of the body usage: the body submitted to medical activity, the body medically auto-supervised and "property" of the individual or also the body subjected to collective interests. I will try to show that these modalities of use involve different ways of understanding and of using the principle of informed consent.

Am I My Brother’s Keeper?: Outlining Rights and Responsibilities in the Context of the Human Genome Diversity Project

J. K. Brewer^1,2;
¹Harvard University, Cambridge, MA, ²De Paul College of Law, Chicago, IL.

CONCLUSION AND IMPACT
There are many obstacles to continued scientific research, the Human Genome Diversity Project (HGDP) specifically. The main obstacles appear to be differing philosophies toward human rights and responsibilities. On the one hand, Western researchers impute ownership rights upon human body parts.This view is repugnant to the culture and beliefs of many indigenous people. However, indigenous peoples and some Western legal scholars maintain that a duty exists for individuals to further the survival of others through scientific research. Still, this duty conflicts with a duty that may exist to future generations not to tinker with the common heritage. The issue of human genetic diversity presents an interesting paradox: genes are responsible for one’s uniqueness, and simultaneously, genes are an omnipotent component of every human being. Achieving a balance between preserving the integrity of our genetic heritage and granting ownership rights in furtherance of scientific knowledge is a perplexing challenge. Yet, at least one group of indigenous peoples has achieved such a balance, and they justified their agreement by articulating a duty to others to help understand and cure a particular disease. Perhaps if we all recognize that we are our brother’s keeper, we can work together to further the aims of science while at the same time maintaining respect for proud cultures.

A Pilot Project on Rehabilitation in Huntington's Disease: Three Years Experience in Italy.

P. Zinzi¹, G. Jacopini¹, R. De Grandis², G. Graziani², S. Maceroni², P. Zappata², A. Bentivoglio³, M. Frontali⁴;
¹Institute of Psychology C.N.R., Rome, ITALY, ²Home Care "Nova Salus", Trasacco, ITALY, ³Institute of Neurology UCSC, Rome, ITALY, ⁴Institute of Neurobiology and Molecular Medicine C.N.R., Rome, ITALY.

Huntington Disease (HD) is a genetic, chronic, neurodegenerative disorder for which there is no known cure. In the past, rehabilitation in HD was justified on humanistic compassionate ground but now it has a more scientific fundament and theoretical support in recent studies using animal models that show beneficial effects of environmental stimulation on disease progression and suggest a possible positive impact of environmental factors on individuals affected by HD.
A pilot research project on the evaluation of rehabilitation effects in HD has been started in Italy in 1999. Fifty patients with a clinically and genetically confirmed diagnosis of HD have been enrolled in a rehabilitation protocol including neuromotor and cognitive therapy. Patients' conditions were assessed at patients' admission and discharge. Further additional data were collected from patient's and families' interviews. First results are encouraging because we can remark notable improvements both on motor control and psychological conditions and we have also found positive effects on family relationships and on caregivers well being state.
Analyses of data are currently performed.
The research was made possible by a grant from C.N.R to M.F.

Communication with relatives about predictive genetic testing for cancer predisposition

C. Foster¹, M. Watson², C. Moynihan¹, A. Ardern-Jones², R. Eeles²;
¹The Institute of Cancer Research, Sutton, UNITED KINGDOM, ²Royal Marsden NHS Trust, London/Sutton, UNITED KINGDOM.

Individuals who have a genetic test for breast/ovarian cancer predisposition are required to pass on information to their relatives. The purpose of this study is to explore communication in the family about cancer and predictive genetic testing for breast and ovarian cancer predisposition amongst women at increased risk of developing breast and/or ovarian cancer due to their family history. 15 women attending the RMH Genetics Clinic were recruited into the study. They were interviewed at least one week prior to receiving their BRCA1/2 test result and again 6 months following the test result. A grounded theory approach was adopted to analyse the interview transcripts. The findings indicated that cancer or deaths had affected family relationships, with some relationships being strengthened and others becoming distant. Many women had talked to other family members about testing. Women anticipated being selective in which family members they would tell about their test result. Several women experienced difficulty in talking to relatives about their test result. The findings illustrate that the nature of relationships and differing opinions within the family regarding genetic testing are likely to have an impact upon dissemination of information about predictive testing to relatives.

A. Rotteveel, A. R. Wintzen, A. Tibben;
Leids Universitair Medisch Centrum, Leiden, NETHERLANDS.

Background: Myotonic Dystrophy (MD) is a multi-system disease with symptoms including muscle weakness, especially in facial muscles and distal extremities, cardiac and gastro-intestinal problems. Cerebral symptoms of MD include (daytime) sleepiness, loss of energy, mental slowness and lack of initiative. Some studies suggest a change of personality. Based on clinical findings 3 phenotypes have been identified: mild, classical, and congenital. MD is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the causal mutation.
These symptoms not only affect the patients’ life but also that of their spouses. Couples seem to respond to this variety of symptoms in different ways. Some apparently cope with these problems and go on living their (more or less adjusted) lives. Others express having trouble in doing so and keep experiencing this trouble for a prolonged period of time.
Objectives:
1. How does MD influence the lives and relationships of patients?
2. Which factors contribute to people’s ability to overcome the problems caused by MD?
Methods: 100 patients of the outpatient clinic and their partners are interviewed about their relationship and the way they feel it has been affected by MD. Information on present symptoms of MD, personality, coping style, family functioning, anxiety and depression is obtained through questionnaires. While subjects watch funny pictures, facial expressiveness is assessed by experienced judges.
Results: Until January, 57 patients (58% males) and their partners (40% males) have enrolled. Mean age 46,5 years (sd = 8,8).

Putting HD into words: exploring the virtual narratives of the Italian HD support group online.

G. Jacopini¹, P. Zinzi¹, A. Cordi²;
¹Institute of Psychology C.N.R., Rome, ITALY, ²A.I.C.H.-ROME, Rome, ITALY.

Three years ago the Italian Association for Huntington's Disease (A.I.C.H.-ROME) has developed a web site. It is a non commercial service and is the result of patients'and caregivers' voluntary work. In Italy it is the unique "interactive" website for HD.
Beyond any expectation, this virtual community interested to/involved with HD for many different reasons has been growing very rapidly: from 6 contacts a week, when the site was started, up to 1600 contacts in one month (November 2001).
Many messages have arrived: some messages are brief and simply ask for information, other messages are rather long and are aimed at sharing the intimate, emotional aspects of the individual's experience of the disease or at confronting with others about main life decisions such as to be tested or not, having or not children, having or not prenatal diagnosis, informing or not children about the disease in the family and so on.
These exchanges on line offer a unique opportunity of a glimpse to the heart of a support group for a severe, incurable, hereditary disease. A text analysis and a qualitative examination of the messages are currently performed. Our first inquiries are aimed at: providing a description of this virtual community; analysing the priorities given by the contributors to the different issues; exploring the way they communicate their ideas and emotions about the disease.

Given the prevalence of sexual abuse in our society, with a large proportion of the abuse taking place within families, it is clear that any health professional will be dealing with clients who are survivors of childhood sex abuse.
This paper explores how a pre history of childhood sexual abuse may impact the genetic counselling consultation. The genetic counselling situation is possibly the only one in which taking a family tree is such a large part of the consultation. It can expose people to thinking about their relationships within the family and bring forward painful memories. A faulty gene running through the family can highlight the legacy of abuse or the 'inheritance' of the problems associated or passed on with it.
Implications for genetic counsellors discussed in this paper are:
Disclosure of sexual abuse.
The specific genetic implications of incest.
Non disclosure of genetic information to family members because of a history of abuse.
Occasional cases of 'munchausens syndrome' particularly where prophylactic surgery may be considered have been reported.Could some of these women have been sexually abused?
One of the predictors of abnormal grief reaction following termination of pregnancy is incest and sexual abuse. As genetic counsellors we are often supporting women in this situation.

Women at increased risk for breast cancer (BC) attending a regular surveillance program. Preliminary results of the baseline measurement.

S. van Dooren¹, C. Seynaeve², H. J. Duivenvoorden¹, M. Kriege², A. J. Rijnsburger³, J. G. M. Klijn², C. C. M. Bartels², H. J. de Koning³, A. Tibben¹;
¹Department of Medical Psychology and Psychotherapy, Erasmus Medical Centre, Rotterdam, NETHERLANDS, ²Family Cancer Clinic/Daniel den Hoed Clinic, Erasmus Medical Centre, Rotterdam, NETHERLANDS, ³Department of Public Health, Erasmus Medical Centre, Rotterdam, NETHERLANDS.

Background: The MRISC study is a surveillance program for women at risk of BC due to a genetic predisposition or family history. Surveillance consists of bi-annually physical examination and yearly mammography and MRI-scan. The estimated actual risk of developing BC in terms of a cumulative life time risk (CLTR) is trichotomiseda. Category 1 implies a CLTR of 60-85%, 2: 30-50%, and 3: 15-30%.
Objectives: Identify (a) the relation between CLTR, coping strategies and psychological distress; (b) the relation between risk of developing BC as perceived by the participant (adjusted for CLTR), coping strategies and psychological distress.
Methods: Participants completed a questionnaire 2 months prior to their surveillance appointment, containing: the Hospital Anxiety and Depression Scale, the Impact of Event Scale, the Psychological Consequences Questionnaire and the Utrecht Coping List. The participants perceived risk was measured in terms of cognition and affect.
Multiple linear regression and polychotomous ordered logistic regression analysis were used to identify the relationships between actual and perceived risk on the one hand and psychological factors on the other.
Results: 241 women answered their baseline questionnaire (mean age 40 years). 11% belong to category 1, 53% to category 2 and 36% to category 3.
CLTR is positively related to avoidance and negative psychological consequences (p< 0.05). Perceived risk is positively related to a depressive coping style (p < 0.02).
Conclusion: Having a higher CLTR means displaying more avoidance and experiencing more negative psychological consequences. Women perceiving their risk of developing BC as high display a depressive coping style.

The meaning of risk: Women's perceptions of the genetic risk of breast and ovarian cancer following BRCA1/2 mutation searching

N. Hallowell¹, C. Foster¹, R. Eeles¹, A. Ardern Jones², V. Murday³, R. Houlston¹, M. Watson⁴;
¹Institute of Cancer Research, London, UNITED KINGDOM, ²Royal Marsden Hospital, London, UNITED KINGDOM, ³St George's Hospital, London, UNITED KINGDOM, ⁴The Royal Marsden Hospital, London, UNITED KINGDOM.

The literature suggests that there is a divergence between the ways in which individuals with a family history of breast/ovarian cancer perceive their risks of developing cancer and the risk estimates provided by clinicians. However, there has been little research that explores the meaning of risks for individuals who are deemed at risk because of their family history, and none that has looked at how women who have previously been affected with cancer make sense of their (potentially) increased risks following DNA-testing.
This retrospective study of affected women who had undergone BRCA1/2 mutation searching investigated their perceptions of developing cancer. In-depth interviews were undertaken with 30 women. These explored their risk perception and the impact of genetic testing on their risk perception.
The data suggest that following their initial diagnosisall women were very aware of their recurrence risk. However, most reported that their anxiety about developing cancer had decreased over time. For some the probability of developing cancer was perceived as reducing over time, whilst others described their risk of cancer as constant but their ability to accommodate risk within their lives changed. Women's understanding of their (potential) inherited risk of cancer involved reconciling their previous experiences with their expectations of the future. Thus, some women, did not regard genetic risk as a threat, whilst others reported an increase in anxiety on learning their risks of developing a second primary cancer. The implications of these findings for theoretical accounts of risk perception will be discussed.

Women from HBOC families during the BRCA genetic testing process : lay and providers interactions

C. M. Julian-Reynier¹, C. Cypowyj¹, F. Chabal¹, F. Eisinger², H. Sobol³;
¹INSERM U379, Marseilles, FRANCE, ²INSERM U379 & E9939 & Institut Paoli-Calmettes, Marseilles, FRANCE, ³INSERM E9939 & Institut Paoli-Calmettes, Marseilles, FRANCE.

The objective of this study was to describe medical and social interactions about BRCA genetic testing and how helpful they were perceived by the patients during the cancer genetic testing process.A prospective cohort study is ongoing including all women who attended at one French cancer genetic centre after a first biological sample was analysed for mutation identification (BRCA1/2). Closed questionnaires were administered before and after the occurrence of the 2nd cancer genetic consultation. This consultation aims to confirm the decision to be tested. No biological results were given during this consultation.Preliminary results were analysed (N=82 ; mean age 46, SD=11; 70% affected by cancer). The medical providers consulted about the decision to be tested were: the Cancer Geneticist (82%), the Gynaeco-Obstetrician (44%), the General Practitioner (42%) and the Clinical Psychologist (7%). When they occurred, these encounters were considered helpful by 92%, 75%, 67% and 62% for Cancer Geneticist, Clinical Psychologist, Gynaeco-Obstetrician and General Practitioner respectively. In the family, spouses and sisters were consulted in 40%, and mothers in 26%. These encounters were considered helpful in 76%, 60%, and 44% for sisters, mothers and spouses respectively. All the sources consulted were in their overwhelming majority favourable to genetic testing. An analysis of medical and psychological factors related to information exchange and information seeking will be investigated further.These results highlight the need for education in cancer genetics, not only for primary care providers but also for the social network of those concerned by genetic testing.

M. McAllister¹, A. Silver², G. Evans³;
¹Regional Genetics Service and Academic Group of Medical Genetics, Manchester, UNITED KINGDOM, ²Oxford Regional Genetics, Oxford, UNITED KINGDOM, ³Regional Genetics Service and Academic Group of Medical Genetics, St Mary's Hospital, Manchester, UNITED KINGDOM.

The theory of engagement emerged from grounded theory work with HNPCC families having predictive genetic testing (McAllister, 1999; 2001), and differs from existing general psychological theories because it is grounded in the experiences of high risk families, and makes specific predictions about adjustment to the results of predictive genetic testing. According to the theory, it is not test result per se, but prior engagement status in combination with test result that predicts post-test adjustment. Intense engagement prior to predictive testing is associated with feelings of relief, and often satisfaction with the discovery of mutation carrier status in HNPCC families. These mutation carriers may feel that they are better off than members of the general population because their carrier status is perceived as a gateway to care. These feelings are not always shared with their less engaged relatives. A proposed model for pre-test counselling for cancer predisposition is presented that may enable more appropriate targeting of clinical resources, cost-effective practice, and the likelihood of decreased patient distress and increased patient satisfaction. It may also prevent future difficulties in adjusting to predictive test results.

Impact of predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC)

J. L. Halliday¹, B. Meiser², R. Warren¹, V. R. Collins¹, C. Gaff³;
¹Murdoch Childrens Research Institute, Victoria, AUSTRALIA, ²Prince of Wales Hospital, Randwick, AUSTRALIA, ³Genetic Health Services, Victoria, AUSTRALIA.

Background
This longitudinal multi-centre Australian study examined the response of people at high risk for colorectal cancer to predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC). There were four assessment times of participants: prior to, and 2 weeks, 4 months and 12 months after notification of test result.
Results
104 people have completed the baseline questionnaire, of whom 56 are female and 45 male. Almost all have received genetic test results and also completed the second questionnaire, 88 completed the third and 76 the fourth.
Measures of anxiety, depression, and intrusive and avoidant thoughts about being at risk for colon cancer (as measured by the Impact of Events Scale [IES]) were included in the questionnaires. Results show marked differences between carriers and non-carriers two weeks post notification, particularly for the IES measure. The difference between these two groups for IES scores remained statistically significant at 4 and 12 months post testing, having adjusted for age and baseline levels of IES. However, all measures decreased between time 2 (two weeks after the result was given) and 12 months for both groups.
Most non-carriers appear reassured and did not have colorectal cancer screening in the first year post genetic testing: 12% of non-carriers have had a colonoscopy, compared with 58% of carriers.
Conclusion
At this stage, there is no evidence that having a predictive test for HNPCC is causing psychological distress and compliance with advice related to screening is being observed.

The influence of consultants’ communication and information-giving behaviours on patient outcomes: A multi centre study of genetic counselling with women from high risk breast cancer families

E. A. Lobb¹, P. N. Butow¹, B. Meiser², A. Barratt³, C. Gaff^4,5, M. A. Young⁶, E. Haan⁷, G. Southers⁷, M. Gattas⁸, K. Tucker⁹;
¹Medical Psychology Research Unit, Department of Psychological Medicine, University of Sydney, Sydney, AUSTRALIA, ²Dept. of Psychological Medicine, Royal North Shore Hospital, St. Leonards, AUSTRALIA, ³Dept. of Public Health and Community Medicine, University of Sydney, Sydney, AUSTRALIA, ⁴Genetic Health Services Victoria, Royal Children’s Hospital, Parkville, AUSTRALIA, ⁵Royal Melbourne Hospital, Parkville, AUSTRALIA, ⁶Peter Mac Callum Cancer Institute, Melbourne, AUSTRALIA, ⁷South Australian Clinical Genetics Service, Women’s & Children’s Hospital, North Adelaide, AUSTRALIA, ⁸Queensland Clinical Genetics Service, Royal Children’s Hospital, Queensland, AUSTRALIA, ⁹Hereditary Cancer Clinic, Prince of Wales Hospital, Sydney, AUSTRALIA.

This longitudinal study aimed to document i) the information-giving and patient-communication styles of clinical geneticists and genetic counsellors (consultants) in familial breast cancer clinics, and ii) assess the impact of these behaviours on women’s knowledge, whether their expectations were met, satisfaction, risk perception and psychological status.
158 women from high-risk breast cancer families completed self-report questionnaires at two weeks pre-and four weeks post-consultation. The consultations were audiotaped, transcribed verbatim and coded.
Multivariate logistic regressions showed that women who had prophylactic mastectomy (p=0.00) and oophorectomy (p=0.01) discussed had significantly more expectations met and a greater reduction in breast-cancer-related avoidant thoughts (p=0.07 and p=0.09 respectively). Women who received a summary letter of the consultation and reported reading it, experienced significantly lower generalised anxiety (p=0.01), lower breast cancer specific anxiety (p=0.08) and were significantly more likely to be accurate in reporting their perceived risk (p=0.02). Women whose consultant used more supportive behaviours experienced significantly more breast-cancer-related intrusive thoughts at the four weeks follow-up (p<0.001). Women who received more supportive behaviours were not significantly more anxious before to genetic counselling.
Discussing prophylactic surgery led to better psycho-social outcomes. Providing women with a letter summarising the consultation reduced anxiety, increased accuracy of risk perception and was a useful adjunct to the consultation. Greater use of supportive and counselling behaviours appeared to increase intrusive thoughts, at least in the short term. Longer follow-up may have shown a reduction in emotional response. Identifying methods to assist consultants to effectively address emotional issues may be helpful.

Attitudes of persons at risk for late-onset neurodegenerative disorders and for hereditary cancer diseases towards molecular genetic predictive diagnosis

Objective: To compare the attitudes of persons at risk (RP) towards genetic predictive diagnosis (PDD).
Background: Huntington’s disease (HD) and heredoataxias (HA) are late-onset neurodegenerative disorders with (HD) and without (HA) dementia. Both are incurable. Hereditary cancer diseases (HC) can be prevented by prophylactic methods. DNA analysis is available.
Methods: Our investigation was carried out by questionnaires. Answers from 300 RP for HD, 30 for HA and 55 for HC were evaluated.
Results: About 55% of RP for HD, 73% for HA and 85% for HC wish to undergo PDD. The main reasons are to obtain certainty about risk status (HD: 78%), to plan for the future (HA: 68%) and to obtain prophylactic therapy (HC: 80%). 33% of the RP for HD, 13% for HA and only 4% for HC refuse PDD. The main reasons against PDD are psychological problems (HD: 79%; HA, HC: 50%). 2/3 of the RP for HD, 1/3 for HA and only 1/5 for HC think that there are problems in taking PDD generally. Most problems are seen in coping with the result of PDD (psychological problems; HD: 77%; HA: 60%; HC: 45%), with insurance companies (40%, 20%, 55%) and with social surroundings (36%, 20%, 18%). Psychotherapy would be accepted by 93% (HD), 83% (HA) and only by 25% of RP for HC.
Conclusions: There are different attitudes towards PDD in the three groups because of the different symptoms and the possibilities of preventing in the case of cancer. Genetic counselling has to consider these features.

S. Marlin¹, D. Deschamp², C. Rebichon³, F. Denoyelle⁴, G. Roger⁴, N. Loundon⁴, E. Garabédian³;
¹Unité de Génétique, Hôpital d'Enfants Armand Trousseau, AP-HP, Paris, FRANCE, ²Département de philosophie, Université Paris I Sorbonne, FRANCE, ³Service d’ORL et de chirurgie cervico-faciale, Hôpital d’Enfants Armand Trousseau, APHP, Paris, FRANCE, ⁴Service d’ORL et de chirurgie cervico-faciale, Hôpital d’Enfants Armand Trousseau, APHP, Paris., FRANCE.

Deafness is the most frequent sensorial defect. One in a thousand children present with profound deafness at birth. As this handicap affects communication, deafness impedes language acquisition, speech development and social integration. The particularity of this handicap is the existence of a deaf community with their own language and culture. The recent progress in the identification of the genes responsible for isolated deafness have open new technical possibilities and pose significant ethical problems. We send questionnaires to hearing parents of deaf children and to deaf adults. The aim of these questionnaires is to discover if patients know the etiology of their deafness, if they want to know it, if they have access to a genetic counselling consultation and if not why, what are their thoughts about the possibility to pratice antenatal diagnosis, and therapeutic abortion. We analyse more than 200 responses. We try to determine if the reponses are influenced by the audiologic status of the responder, the severity of the defect, its association with an other handicap or others parameters.

Relevant issues in genetic counseling for familial dementia: a study on attitudes towards testing in at-risk relatives.

S. Amadori¹, L. Gigola¹, E. Di Maria², A. Saltini¹, R. Pioli¹, P. Mandich², O. Zanetti¹, A. Alberici¹, G. Binetti¹;
¹IRCCS San Giovanni di Dio - Fatebenefratelli, Brescia, ITALY, ²University of Genova, Genova, ITALY.

Some familial forms of dementia were found to be transmitted as mendelian traits, such as early onset Alzheimer disease and frontotemporal dementia with parkinsonism, which were associated with mutations in the PS-1 and MAPT genes, respectively. In these cases, the mutation is characterised by autosomal dominant inheritance, with high penetrance. Thus, a test with high predictive value can be offered to the at-risk healthy relatives of patients.
The present study is aimed at: i) evaluating the attitudes towards genetic testing in relatives of patients with familial dementia; ii) developing a specific protocol for genetic counselling, including presymptomatic testing, for families with mendelian forms of dementia.
Thirty-five relatives of patients with familial dementia were recruited. Participants were tested by an extensive psychological assessment including several rating scales; the attitudes towards genetic test were evaluated by using a specific tool (Roberts, 2000). About 70% of participants expressed probable intentions to seek for the test. Participants reported test benefits as more important than limitations and risks (p=.0019). Staying on top of future treatment, as well as planning the future, were considered the most important items in favour of the test. Psychological and sociodemographic characteristics do not seem to influence attitudes and intentions towards genetic testing. Two families in which a MAPT gene mutation segregates with frontotemporal dementia were identified; some at-risk relatives requested to be enrolled for the genetic testing procedure. On this purpose, a multidisciplinary team is developing a pilot protocol for genetic counselling. The preliminary experience will be reported.

Awareness of the contribution of genetic factors to aetiology amongst individuals with bipolar disorder.

J. H. Tocher¹, D. Craufurd², R. Warner³, A. MacNeill³;
¹Clinical Genetics Service, City Hospital, Nottingham, UNITED KINGDOM, ²Department of Clinical Genetics, St Mary's Hospital, Manchester, UNITED KINGDOM, ³Community Health Sheffield, Sheffield, UNITED KINGDOM.

Bipolar disorder is a chronic, mental health condition with a multifactorial, polygenic aetiology. The illness is characterised by episodes of both mania and major depression, typically occurring in cycles.
The aim of this exploratory study was to assess knowledge of the possible causes of bipolar disorder and to discover the level of concern amongst participants that other family members may be at risk of developing the illness. 22 adults diagnosed with bipolar disorder were interviewed, using a semi-structured interview schedule. Data were analysed to see if there was an emerging difference between those with a family history of mental illness and those individuals who were isolated cases.
The results showed that 15/22 (68%) knew that family history plays a role, with 13 then explicitly stating genetics as a cause. 77% cited stressful or traumatic life-events as a cause of their illness. More than half the sample overestimated both the population lifetime risk of bipolar disorder and the lifetime risk for those with an affected parent. There was no evidence that those with a family history overestimated the risks compared to isolated cases. Those who overestimated population risk were also overestimating family risk for developing bipolar illness. Almost half of the sample (10/22) had experienced some degree of worry about other family members becoming manic-depressive.
These findings suggest that genetic counselling and information may be useful to this population.

General Practitioners And Predictive Genetic Testing For Late Onset Diseases: Their Opinions And Their Perceived Role

M. Welkenhuysen, G. Evers-Kiebooms;
Psychosocial Genetics Unit, Center for Human Genetics, Leuven, BELGIUM.

A sample of 356 GPs received mail questionnaires in combination with telephone prenotifications and reminders to assess their opinions (1) on the sense of predictive testing for breast cancer, thyroid cancer, Alzheimer disease and Huntington’s disease, (2) on the acceptability of testing a child at the parents’ request and an adolescent at his/her own request, (3) on their own role in the context of predictive testing. Multiple-choice and open-ended questions were used. Sixty percent returned the mail questionnaire. One third of them had at least one patient who had asked for information about a predictive test and/or who had such a test performed. The following pattern in the GPs’ judgments about the sense of predictive testing was revealed: the test for thyroid cancer was considered as more sensible than the test for breast cancer, both were more sensible than the test for Huntington’s disease and all three were more sensible than the test for Alzheimer disease. Predictive testing for Huntington disease for an adolescent at his/her own request was judged as more acceptable than for a child at the parents’ request. The GPs’ explanations for their judgements will be presented. Six percent were convinced that GPs have no role at all to play in the context of predictive testing for late onset diseases. Regarding the type of task, most GPs focussed on gate-keeping aspects, going from the provision of information, over making referrals, to being more directive. The research was funded by the Flemish Interuniversity Institute of Biotechnology (VIB).

Informed choice to undergo prenatal screening: a comparison of two hospitals conducting testing either as part of a routine visit or requiring a separate visit

E. Dormandy, S. Michie, T. M. Marteau;
King's College, London, UNITED KINGDOM.

Background:
The wide variation in uptake of antenatal Down syndrome screening is associated with the method of conducting screening. Uptake is lower when screening is conducted at a test-specific separate visit compared with a routine visit. It is not known if informed choice also varies with the method of conducting screening. Women may find it easier to decline screening if it is conducted at a test-specific separate visit. Conversely women may find it easier to accept screening if it is conducted as part of a routine visit.
Aim: To compare rates of informed choice for Down syndrome screening where it is conducted at a test-specific separate visit or as part of a routine visit.
Participants: 1499 pregnant women offered Down syndrome screening.
Setting: Two hospitals in the UK offering the same Down syndrome screening test.
Outcome measure: the multi-dimensional measure of informed choice, comprising three core constructs: knowledge about the screening test, attitudes towards undergoing the screening test and screening uptake.
Results.
Rates of informed choice to decline screening were the same at both hospitals (23%). Rates of informed choice to accept were higher at the hospital conducting tests as part of a routine visit than as a separate visit (41% vs 21%).
Conclusion: Screening conducted as part of a routine visit is associated with higher rates of informed choice, than if it is conducted at a test-specific separate visit. An experimental test of this observation is underway.

Pregnancy Outcome After Genetic Counselling For Prenatal Diagnosis Of Chromosomal Anomaly With Low Risk Of Severe Clinical Significance

M. Petrella¹, E. Di Gianantonio¹, R. Ponchia², I. Mammi¹, M. Clementi¹, R. Tenconi¹;
¹Genetica Clinica Epidemiologica, Padova, ITALY, ²Azienda Ospedale, Padova, ITALY.

The aim of the study was to evaluate the psyco-social impact of the identification of a foetal chromosomal anomaly on couples who underwent prenatal diagnosis in the years 1996-2000 and were referred for genetic counselling to our service.
Inclusion criteria were the identification of a chromosomal anomaly that may have no phenotypic consequences or only mild ones: variant, mosaicism (I-II level), balanced familial inversion or translocation, familial or denovo extra structurally abnormal chromosomes (ESACs) and sex chromosomes aneuploidies.
Exclusion criteria were: presence of a malformation detected by ultrasound, or autosomal aneuploidy, or unbalanced chromosomal anomaly.
Both parents have been interviewed and asked to fill in a questionnaire, consisting in two parts (general information, scale for the assesment of anxiety).
RESULTS
A total of 36 couples were included in the study and 30 agreed to participate: 13 sex-chromosome anomaly, 11 mosaiscisms, 4 translocations, 1 ESACs, 1 variant. Only 10/30 had a formal counselling by the obstetrician before the prenatal diagnosis.
2 couples (1 mosaicism II level, 1 45,X/46,XX) underwent an induced abortion, 16 of the 28 remaining couples who decided to continue the pregnancy, did it after the genetic counselling. There was no differences in the level of anxiety between the 12 couples who have decided to continue the pregnancy before the genetic counselling and the others 16.
CONCLUSION
Couples undergoing prenatal karyotiping should be counselled before performing the tests.
The genetic counselling has an important role in informing parents and in making the decision to continue the pregnancy.

Defining a psychological intervention program for women undergoing interruption of pregnancy after prenatal diagnosis.

J. Rocha^1,2, C. Paúl^1,3, A. Leonardo⁴, J. Pitrez⁵, J. Sequeiros^1,3, P. Tavares²;
¹UnIGENe-IBMC, Univ. Porto, PORTUGAL, ²C.Gen.Clín., Porto, PORTUGAL, ³ICBAS - Univ. Porto, Porto, PORTUGAL, ⁴H.Sta.Maria, Lisbon, PORTUGAL, ⁵Hosp.Sra.Oliveira, Guimarães, PORTUGAL.

Interruption of a pregnancy (TOP) after prenatal diagnosis is a challenging issue on genetic counselling. The need of psychological intervention to facilitate the adjustment process is well described in literature; however, few specific empirical data on the decision process and coping with loss of a wanted pregnancy are available.
Our work focuses in those issues using two different theoretical approaches: the Ottawa decision support framework and coping with critical life-events, including cognitive-narrative perspectives on loss.
Our main objectives are: a) to define the weight of difficult adjustment factors: clinical and social data, coping responses, decision-making determinants and woman's metaphors for the event; b) to check which coping strategies are effective preventing anxiety and depression; and c) to define a program of psychological intervention.
Our protocol includes 4 sessions, with evaluation at 15 days and 6 months after TOP. At the first post-TOP evaluation, a structured interview is used, covering social-demographic data, decision determinants (perception of the decision, perception of significant others, resources available for the decision-making process) and specific loss issues (social support, knowledge about the process, grief thoughts and metaphor for the episode), Moos Coping Responses Inventory, Beck Depression Inventory (BDI), Zung Anxiety Scale (SAS) and Generic Decisional Conflict Scale. At the 6th month evaluation, a structured interview, with BDI and SAS, is used.
We discuss the guidelines for the assessment and intervention on this critical life-event, focusing data on the importance of decision support, the coping process, emotional and cognitive intentional attribution of the experience and its metaphor.

Feticide and late termination of pregnancy: impact on parents and health professionals

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

In some countries, legislation permits termination of pregnancy after the diagnosis of fetal abnormality at gestations beyond fetal viability. Prior to such a late termination, it is necessary to ensure that the baby is dead prior to the induction of labour. In the United Kingdom this procedure, feticide, is usually carried out in specialist fetal medicine units. There are no published data concerning how parents react to this procedure nor how it impacts on those health professionals carrying it out.
This paper will use questionnaire and interview data collected from twenty-eight women and their partners, whose pregnancies were terminated with the use of feticide after the late diagnosis of a fetal abnormality. We will describe the impact of this procedure for both men and women, compared with parents undergoing termination for abnormality at earlier gestations without the use of feticide. Attitudes to and experiences of the procedure varied among parents. Overall, no relationship was found between undergoing feticide or not and maternal emotional well being although a year after a termination, there was evidence of higher paternal grief in those men whose partner had undergone a feticide.
We will also describe the findings from interviews with health professionals (both doctors and midwives) in fetal medicine units, which explored: their attitudes to the legal framework for abortion in the UK; the policies and practices that have evolved within the legal framework and Royal College guidelines; and the impact of this procedure on them as practitioners.

R. Lulofs¹, C. E. M. de Die-Smulders¹, N. D. Muntjewerf¹, J. A. Land²;
¹Dept. of Clinical Genetics, Academic Hospital Maastricht, Maastricht, NETHERLANDS, ²Dept. of Gynaecology, Academic Hospital Maastricht, Maastricht, NETHERLANDS.

Introduction.
The Academic Hospital in Maastricht is the only centre in the Netherlands that provides Pre-implantation Genetic Diagnosis (PGD). Between 80-100 couples are referred each year. This gave us the opportunity to investigate the characteristics and motives of the couples seeking PGD counseling.
The main question was:
Which couples opt for PGD and which factors might influence the course of treatment?
Method.
As part of the intake a Clinical Geneticist provides information about PGD. After that a Psychologist interviews the couple. A descriptive analysis of the first 50 interviews has been performed.
Results.
The presentation mainly deals with the first part of the question i.e. which couples opt for PGD. Roughly 40% of the genetic disorders that lead to the wish for PGD are autosomal dominant late onset disorders, another 45% are X-linked or autosomal recessive disorders and 15% of the cases have frequent early abortions due to translocations. Couples generally underestimate the impact of the disorder on quality of life. Women and men mention similar motives for parenthood. Couples feel medium to high time pressure in 60% of the cases. Alternative options to get a healthy child are considered in 50% of the cases but 70% express a strong preference for PGD. Sufficient social support is reported by 80% of the couples and only 10% does not want to discuss their problems with others. After the initial interview, 60% wants to continue, 10% declines to go on and 30% wants to reconsider their options.