Preliminary Scientific Programme

Saturday, May 31, 2008
14.00-15.30 EMPAG/ESHG educational session
ES 4. Difficult counselling cases (joint with EMPAG)
with the support of the Real Patronato sobre Discapacidad
Organisers: F. Ramos, T. Clancy
  • Genetic counselling and genetic medicine in clinical practice in Spain
    C. Ayuso
     
  • Organisation of the new profession and the new masters of genetic counselling in France
    N. Philip
     
  • Risk communication of in Fragile-X
    A. McConkie-Rosell
16.00-16.30 Welcome addresses
16.30-18.00 EMPAG Plenary Session
EPL1. Communicating genetic information and preventive behaviour
Chair: C. Julian-Reynier, J. Brunet-Vidal

EPL1.1 Recall and interpretation in genetic counselling, after intake and non-informative DNA-test results in BRCA1/2: discrepancies, explanations and consequences
J. Vos
1, C. J. Van Asperen1, J. C. Oosterwijk2, E. B. Gomez Garcia3, F. H. Menko4, J. M. Collee5, A. M. Stiggelbout6, A. Tibben1;
1Leiden University Medical Center, Center of Human and Clinical Genetics, dep. of Clinical Genetics, Leiden, The Netherlands, 2University Hospital Groningen, dep. of clinical genetics, Groningen, The Netherlands, 3Maastricht University Medical Center, dep. of clinical genetics, Maastricht, The Netherlands, 4VU University Medical Center, dep. of clinical genetics, Amsterdam, The Netherlands, 5Erasmus Medical Center Rotterdam, dep. of clinical genetics, Rotterdam, The Netherlands, 6Leiden University Medical Center, dep. of Medical Decision Making, Leiden, The Netherlands.

EPL1.2 Is enhanced information at genetic counselling necessary?- a randomised study
A. Roshanai
1, R. Rosenquist2, K. Nordin1;
1Department of Public Health and Caring Sciences, Uppsala, Sweden, 2Department of Genetics and Pathology, Uppsala, Sweden.

EPL1.3 Determining the genetic status of women newly diagnosed with breast cancer prior to treatment decisions: An ethical challenge
E. A. Lobb
1,2, N. Hallowell3, K. Barlow-Stewart4, G. Suthers5;
1Medical Psychology Research Unit, University of Sydney, Camperdown, Australia, 2WA Centre for Cancer & Palliative Care, Curtin University of Technology, Perth, Australia, 3Public Health Sciences, The University of Edinburgh, Edinburgh, United Kingdom, 4Centre for Genetics Education, Royal North Shore Hospital, St Leonards, Australia, 5Familial Cancer Unit, Department of Genetic Medicine, Children’s Youth & Women’s Health Service, Adelaide, Australia.

EPL1.4 Impact of using family history on motivation to prevent type 2 diabetes: an RCT
M. Pijl
1,2, D. R. M. Timmermans1,2, L. Claassen1,2, A. C. J. W. Janssens3, G. Nijpels1,4, T. M. Marteau5, L. Henneman1,2;
1Department of Public and Occupational Health, VU University Medical Center, Amsterdam, The Netherlands, 2EMGO-Institute, VU University Medical Center, Amsterdam, The Netherlands, 3Department of Public Health, Erasmus University Medical Center, Rotterdam, The Netherlands, 4Department of General Practice, VU University Medical Center, Amsterdam, The Netherlands, 5Psychology & Genetics Research group, King’s College, London, United Kingdom.

EPL1.5 Illness risk representations and preventive behaviour in people diagnosed with Familial Hypercholesterolemia by DNA-testing
L. Claassen
1, L. Henneman1, I. Kindt2, T. M. Marteau3, D. R. M. Timmermans1;
1EMGO-Institute, Department of Public and Occupational Health, VU University Medical Center, Amsterdam, The Netherlands, 2Foundation for Tracing Hereditary Hypercholesterolemia (StOEH), Amsterdam, The Netherlands, 3Psychology & Genetics Research Group, King's College, London, United Kingdom.

 

18.30-19.45 EMPAG Plenary Session
EPL2. Public policy and public engagement
Chair: G. Evers-Kiebooms, G. Jacopini

EPL2.1 Genetic testing in asymptomatic minors: social and ethical issues
P. Borry
, K. Dierickx;
Centre for Biomedical Ethics and Law, K.U.Leuven, Leuven, Belgium.

EPL2.2 Public attitudes towards genetic testing for susceptibility to major depression
A. Wilde
1, B. Meiser1, P. B. Mitchell1, P. R. Schofield2;
1University of New South Wales, Sydney, NSW, Australia, 2Prince of Wales Medical Research Institute, Sydney, NSW, Australia.

EPL2.3 Exploring Psychiatric Genetics through Interactive Drama
F. Ticehurst
1, B. Williams2, L. Osborn3, P. Gibbins4, J. Davies4;
1Wales Gene Park, Cardiff, United Kingdom, 2Genetic Interest Group, Cardiff, United Kingdom, 3Freelance Writer, Cardiff, United Kingdom, 4Gwent Theatre Company, Abergavenny, United Kingdom.

EPL2.4 Professional ambivalence: accounts of ethical practice in childhood genetic testing
M. A. Arribas-Ayllon
, S. Sarangi, A. Clarke;
Cardiff University, Cardiff, United Kingdom.

 

20.00 Welcome reception
Sunday, June 1, 2008
08.45-10.15 ESHG/EMPAG Symposium S03: The future of genetic counselling
Chair: J.J. Cassiman, T. Clancy

S03.2 Medical Genetic services in developing countries (20')
A. Christianson;
Division of Human Genetics, National Health Laboratory Services & University of the Witwatersrand, Johannesburg, South Africa. 

S03.3 Genetic testing and private companies. The US as a model for Europe? (15')
M. Aspinal;
Genzyme Corporation, Westborough, MA, United States

S03.4 Are genetic and molecular biomarkers ready for the clinic? (20')
R. Zimmern;
PHG Foundation Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom. 

10.15-11.15 Coffee and poster viewing
11.15-12.15 Poster discussion with presenters (even numbers)
13.15-14.45 ESHG/EMPAG workshops
 
15.00-16.30 EMPAG Plenary Session
EPL3. Pre-implantation and predictive testing for cancer predisposition
Chair: J. Rocha, T. Clancy

EPL3.1 Patients’ attitudes to the use of preimplantation genetic diagnosis for inherited predispositions to bowel cancer
A. A. D. Melville, H. E. Musgrave, T. Clancy;
Medical Genetics Research Group and Regional Genetics Service, University of Manchester and CMMC NHS Trust, Manchester, United Kingdom.

EPL3.2 Pre-implantation genetic diagnosis (PGD) and prenatal diagnosis (PND) for cancer predisposition syndromes: reported practices and attitudes of French professionals
C. M. Julian-Reynier
1,2, F. Chabal3, F. Nowak4, T. Frebourg5, D. Lemery6, C. Noguès7, F. Puech8, F. Thepot9, D. Stoppa-Lyonnet10;
1INSERM (UMR912), Marseille, France, 2Institut Paoli-Calmettes, Marseille, France, 3UMR912 INSERM, Marseille, France, 4Institut National du Cancer, Paris, France, 5University Hospital, Rouen, France, 6University Hospital, Clermont-Ferrand, France, 7Regional Cancer Centre, Saint-Cloud, France, 8University Hospital (Jeanne de Flandre Hospital), Lille, France, 9Agence de Biomédecine, Paris, France, 10Institut Curie, Paris, France.

EPL3.3 Motivations for genetic testing among individuals at risk of hereditary breast-ovarian cancer (HBOC) and Lynch syndromes
D. Fortuny
1, N. Gadea1, B. Graña2, T. Ramón y Cajal3, A. Torres4, J. Brunet2, A. Velasco2, E. Darder5, J. Sánz4, C. López3, J. Balmaña1;
1Hospital Universatario Vall d'hebrón, Barcelona, Spain, 2Medical oncology department ICO, Hospital Josep Trueta, Girona, Spain, 3Medical oncology department. Hospital de Sant Pau, Barcelona, Spain, 4Medical oncology department, Hospital Sant Joan, Reus, Spain, 5Medical oncology department ICO, Hospital Josep Trueta, Barcelona, Spain.

EPL3.4 Exploring the influence of the family social network on the psychological well-being of individuals undergoing genetic counseling and testing for Lynch syndrome
D. W. Hadley
, S. Ashida, N. R. Kuhn, J. F. Jenkins, C. M. McBride, L. M. Koehly;
National Institutes of Health, Bethesda, MD, United States.

EPL3.5 Genetic counselling and testing for melanoma risk in Australia: A prospective study of uptake and psychological implications
N. A. Kasparian
1,2, B. Meiser3,2, P. N. Butow4, J. M. Simpson5, G. J. Mann6;
1School of Women's and Children's Health, University of New South Wales, Kensington, Australia, 2Department of Medical Oncology, Prince of Wales Hospital, Randwick, Australia, 3Prince of Wales Clinical School, University of New South Wales, Kensington, Australia, 4Medical Psychology Research Unit, School of Psychology, University of Sydney, Sydney, Australia, 5School of Public Health, University of Sydney, Sydney, Australia, 6Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead, Australia.

 

17.15-18.45 ESHG/EMPAG Symposium S05: Management of inherited cancers
Chair: T. Frébourg, C. Lazaro

S05.1 Guidelines for the clinical management of Lynch syndrome and adenomatous polyposis (30')
H. F. Vasen;
Department of Gastroenterology & Medical Oncology, Leiden University Medical Centre, Leiden, Netherlands. 

S05.2 Evaluation of breast and ovarian cancer screening programmes in BRCA1 and BRCA2 mutation carriers : the UK and Dutch experience (30')
D. G. Evans1, K. N. Gaarenstroom2, D. Stirling3, A. Shenton1, L. Maehle4, A. Dørum4, M. Steel5, F. Lalloo1, J. Apold6, M. E. Porteous3, H. F. A. Vasen7, C. J. van Asperen8, P. Moller4;
1Medical Genetics Research Group and Regional Genetics Service, University of Manchester and Central Manchester and Manchester Children’s University Hospitals NHS Trust, St Mary's Hospital, Manchester, United Kingdom, 2Department of Gynaecology, Leiden University Medical Center, Leiden, Netherlands, 3South East of Scotland Genetics Service, Western General Hospital, Edinburgh, United Kingdom, 4Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet Radiumhospitalet Clinical Center, Oslo, Norway, 5University of St Andrews, Bute Medical Buildings, St Andrews, United Kingdom, 6Centre of Medical Genetics and Molecular Medicine, Haukeland University Hospital, and Institute of Clinical Medicine, University of Bergen, Bergen, Norway, 7The Netherlands Foundation for the Detection of Hereditary Tumours and the Department of Gastroenterology, Leiden University Medical Center, Leiden, Norway, 8Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Norway. 

S05.03 Managing genetic risk: Some issues for BRCA1 and 2 mutation carriers (30')
N. Hallowell;
Public Health Sciences, University of Edinburgh, Edinburgh, United Kingdom. 
 

Monday, June 2, 2008
08.45-10.15 EMPAG Plenary Session
EPL4. Antenatal screening and testing
Chair: A. Tibben, A.  McConkie-Rosell

EPL4.1 Antenatal screening for fetal abnormality - ensuring informed choice for parents
H. Skirton
1, O. Barr2, J. Frost3, T. Wells1;
1University of Plymouth, Taunton, United Kingdom, 2University of Ulster, Belfast, United Kingdom, 3University of Plymouth, Plymouth, United Kingdom.

EPL4.2 The role of attitudinal ambivalence towards Down’s syndrome in prenatal testing decisions
L. D. Bryant
1, J. M. Green2, J. Hewison1;
1Leeds Institute of Health Sciences, University of Leeds, Leeds, United Kingdom, 2Department of Health Sciences, University of York, York, United Kingdom.

EPL4.3 ‘Balance’ is in the eye of the beholder: perceptions of balanced information to support informed choices via AnSWeR (Antenatal Screening Web Resource)
S. Ahmed
, L. D. Bryant, J. Hewison;
University of Leeds, LEEDS, United Kingdom.

EPL4.4 Testing times, challenging choices; women, prenatal testing and genetic counselling
J. M. Hodgson
1, M. A. R. Sahhar1,2, L. H. Gillam1,3, S. A. Metcalfe1,3;
1Murdoch Childrens Research Institute, Melbourne, Australia, 2Genetic Health Services Victoria, Melbourne, Australia, 3University of Melbourne, Melbourne, Australia.

EPL4.5 "It's something I need to consider": women's decisions about population carrier screening for fragile X syndrome
A. D. Archibald
1,2, A. M. Jaques1, S. Wake3, S. A. Metcalfe1,2;
1Murdoch Childrens Research Institute, Melbourne, Australia, 2University of Melbourne, Melbourne, Australia, 3Genetic Health Services Victoria, Melbourne, Australia.
 

10.15-11.15 Coffee and poster viewing
11.15-12.15 Poster discussion with presenters (odd numbers)
13.15-14.45 EMPAG Concurrent Workshops
EPW1.1 Talking about disability in prenatal genetic counselling sessions: Identifying tensions and developing strategies
J. M. Hodgson
1, J. Weil2;
1Murdoch Childrens Research Institute, Melbourne, Australia, 2University of California, San Francisco, CA, United States.


EPW2. Assessing Quality of Counselling in the Context of Genetic Testing Workshop
H. Skirton
1, H. Kaariainen2, E. Rantanen3, M. Hietala3, J. Sequeiros4, U. Kristoffersson5, L. Kerzin-Storrar6, A. Tibben7, G. Evers-Keibooms8, A. Faucett9, A. Clarke10;
1Faculty of Health and Social Work, University of Plymouth, Taunton, United Kingdom, 2National Public Health Institute, Helsinki, Finland, 3Department of Medical Genetics, University of Turku, Turku, Finland, 4IBMC, University of Porto, Porto, Portugal, 5Department of Clinical Genetics, University Hospital, Lund, Sweden, 6Regional Genetics Service & Medical Genetics Research Group, CMMC & University of Manchester, Manchester, United Kingdom, 7Centre for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands, 8Centre for Human Genetics, University of Leuven, Leuven, Belgium, 9Emory University School of Medicine, Atlanta, GA, United States, 10Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom.

 

15.00-16.30 EMPAG Plenary Session
EPL5. Regulatory issues in genetics
Chair: A. Brand, L. Lobb

EPL5.1 Verification of consumers’ experiences and perceptions of genetic discrimination and its impact on utilisation of genetic testing
K. K. Barlow-Stewart
1, S. Taylor2, S. Treloar3, M. Stranger4,5, M. Otlowski4,5;
1The Centre for Genetics Education, Sydney, Australia, 2Department of Social Work and Human Services, Central Queensland University, Rockhampton, Australia, 3Centre for Military and Veterans’ Health, The University of Queensland, Brisbane, Australia, 4Centre for Law and Genetics, University of Tasmania, Hobart, Australia, 5School of Law, University of Tasmania, Hobart, Australia.

EPL5.2 The Multiplex Initiative: a study to determine who seeks free multiplex genetic susceptibility testing among a healthy population of American adults
C. M. McBride
1, S. Hensley-Alford2, R. Reid3, E. Larson3, A. D. Baxevanis1, L. C. Brody1;
1National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States, 2Henry Ford Health System, Detroit, MI, United States, 3Group Health Cooperative, Seattle, WA, United States.

EPL5.3 Willingness for blood donation for genomic studies: a comparative study between scientists and the public
K. Muto
1, A. Nagai2, A. Tamakoshi3, I. Ishiyama2, K. Kato4, Z. Yamagata2;
1The University of Tokyo, Tokyo, Japan, 2Yamanashi University, Yamanashi, Japan, 3Aichi Medical University, Aichi, Japan, 4Kyoto University, Kyoto, Japan.

EPL5.4 Privatising susceptibility to disease: the need for regulation?
A. J. Clarke
1, I. Frayling2, M. Arribas-Ayllon1, S. Sarangi1;
1Cardiff University, Cardiff, United Kingdom, 2University Hospital of Wales, Cardiff, United Kingdom.

EPL5.5 Gene patents and diagnostics: numbers don’t count
N. Berthels
1,2, B. Verbeure1, E. van Zimmeren1, G. Van Overwalle1, G. Matthijs2;
1Centre for Intellectual Property Rights, KULeuven, Leuven, Belgium, 2Center for Human Genetics, KULeuven, Leuven, Belgium.

 

17.15-18.45 ESHG/EMPAG Symposium S10: Advances in prenatal diagnosis and therapy
Chair: M. Macek, T. Clancy

S10.1 In utero stem cell transplantation: where are we now? (30')
T. H. Bui;
Department of Molecular Medicine, Clinical Genetics Unit, Stockholm, Sweden. 

S10.2 Non-invasive prenatal diagnosis of Down syndrome: a challenging puzzle in circulating fetal nucleic acid research (30')
R. Chiu;
Li Ka Shing Institute of Health Sciences and Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong. 

S10.1 The regulation of prenatal and preimplantation genetic diagnosis in the UK (30')
E. Jackson;
Law Department, London School of Economics, London, United Kingdom. 

20.00 Congress party
Tuesday, June 3, 2008
08.45-10.15 EMPAG Concurrent Workshops:
EPW3. Genetic Counseling and predictive testing: A dynamic perspective
A. Tibben
1,2, L. Hoffman3;
1Leiden University Medical Centre, Leiden, The Netherlands, 2Erasmus Medical Centre Rotterdam, Rotterdam, The Netherlands, 3Department of Oncology, Faculty of Medicine, McGill University, Montreal, QC, Canada.

EPW4. Analysing the social dimensions of coping in families: a workshop on presenting the results in clinical practice
H. G. Van Spijker
, T. Brouwer;
Medical Genetics University Medical Centre, 3508 CA Utrecht, The Netherlands.

 

10.45-12.15 EMPAG Plenary Session
EPL6. Living with genetic conditions
Chair: T. Clancy, C. Julian-Reynier

EPL6.1 Psychosocial Impact of X-linked Carrier Status: Experiences of Female Adrenoleukodystrophy Carriers
J. Bowen
1, R. Mountford2, L. Kerzin-Storrar3;
1Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom, 2Department of Medical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom, 3Regional Genetic Service and Medical Genetics Research Group, CMMC NHS Trust and University of Manchester, Manchester, United Kingdom.

EPL6.2 The marital relationship and psychological wellbeing in patients with Myotonic Dystrophy
R. Timman
1, A. Rotteveel2, A. Wintzen1, A. Tibben2;
1Neurology, Leiden, The Netherlands, 2Human and Clinical Genetics, Leiden, The Netherlands.

EPL6.3 Living with NF1: The persectives of young people
K. F. May
1, R. A. Collier2, L. Kerzin-Storrar3;
1West Midlands Regional Clinical Genetics Service, Birmingham, United Kingdom, 2Nottingham Regional Clinical Genetics Service, Nottingham, United Kingdom, 3North West Regional Genetics Service, Manchester, United Kingdom.

EPL6.4 Quality of life in hypertrophic cardiomyopathy mutation carriers
I. Christiaans
1, I. M. van Langen1, E. Birnie2, G. J. Bonsel2, A. A. M. Wilde3, E. M. A. Smets1,4;
1Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands, 2Institute of Health Policy and Management, Erasmus Medical Centre, Rotterdam, The Netherlands, 3Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands, 4Department of Medical Psychology, Academic Medical Centre, Amsterdam, The Netherlands.

EPL6.5 Developing a cancer genetic-specific measure of coping
C. Phelps
1, P. Bennett2, H. Jones1, K. Brain1, K. Hood3, A. Murray4;
1Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom, 2Nursing, Health and Social Care Research Centre; Cardiff University, Cardiff, United Kingdom, 3Centre for Health Sciences Research; Cardiff University, Cardiff, United Kingdom, 4Institute of Medical Genetics, University Hospital of Wales, Cardiff, Cardiff, United Kingdom.
 

12.15 End of EMPAG meeting