2008 Barcelona - European Society of Human Genetics

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EMPAG Plenary Lectures the activity itself . This presentation draws on material produced by participants during the development of the project and subsequent performances to illustrate how aspects of the methodology used within the project sought to engage participants and to facilitate their appreciation complexity of the issues raised . 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. Childhood genetic testing raises complex ethical and moral dilemmas for both families and professionals . In the family sphere, the role of communication is a key aspect in the transmission of `genetic responsibility’ between adults and children . In the professional sphere, genetic responsibility is an interactional accomplishment emerging from competing views over what constitutes the `best interests’ of the child . In the present paper we extend our previous research into parental accounts of childhood genetic testing and explore the ethical explanations/descriptions of professionals in research interviews . Interviews (n=20) were conducted with professional practitioners involved in the genetic diagnosis and management of children and their families . We first identify four inter-related themes - juxtaposition of parental rights vis-à-vis child’s autonomy, elicitation of the child’s autonomy, avoidance of parental responsibility and acknowledgement of uncertainty - and then, using Rhetorical Discourse Analysis, examine the range of devices through which ethical explanations are situationally illustrated: contrast, reported speech, constructed dialogue, character and event work . An important device for facilitating ethical explanations is the use of extreme case scenarios which reconstructs dilemmas as justifications of professional conduct . Our analysis of professional accounts suggests that ethical practice is not a simple matter of implementing principles but managing the practical consequences of interactions with parents and children . We conclude that more attention is needed to understand the way professional practitioners construct and share cases as useful illustrations of evidence-based ethical practice . 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. Familial Adenomatous Polyposis (FAP) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) are dominantly inherited cancer predisposition syndromes which confer a significantly increased risk of bowel and other cancers . The Human Fertilisation and Embryology Authority (HFEA) have approved preimplantation genetic diagnosis (PGD) for FAP and HNPCC in the UK . Semi-structured telephone interviews were used to explore the views of 6 FAP and 8 HNPCC mutation carriers (6 men and 8 women) regarding the use of PGD for their condition and other scenarios . The general acceptability of the use of PGD depended on the perceived severity of the condition in question and views about the moral status of the embryo/foetus during development . While both patient groups perceived FAP or HNPCC to have a low impact on quality of life, approximately half of the participants accepted the use of PGD for their condition in principle . Fewer participants however, from both the FAP and HNPCC groups, would consider personally using PGD for their condition . The importance of individual choice around reproductive decision-making was a central theme although there were concerns about the expansion of PGD into non-medical trait selection . The main advantage of PGD was seen to be avoiding termination of pregnancy. Disadvantages identified included the emotional and financial costs of undergoing the procedure, and the relatively low chance of a successful pregnancy . 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. Chabal 3 , F. Nowak 4 , T. Frebourg 5 , D. Lemery 6 , C. Noguès 7 , F. Puech 8 , F. Thepot 9 , D. Stoppa-Lyonnet 10 ; 1 INSERM (UMR912), Marseille, France, 2 Institut Paoli-Calmettes, Marseille, France, 3 UMR912 INSERM, Marseille, France, 4 Institut National du Cancer, Paris, France, 5 University Hospital, Rouen, France, 6 University Hospital, Clermont- Ferrand, France, 7 Regional Cancer Centre, Saint-Cloud, France, 8 University Hospital (Jeanne de Flandre Hospital), Lille, France, 9 Agence de Biomédecine, Paris, France, 10 Institut Curie, Paris, France. PGD and terminations of pregnancy for foetal indications are registered in France but the spontaneous demand experienced by medical professionals in their practice is unknown . Objectives : to describe the reported demand and acceptability of PGD/PND for cancer predisposition syndromes such as observed by cancer geneticists and prenatal diagnosis centres . Methods: Mail/postal survey (self-administered questionnaires) among all French cancer geneticists (N=123) and multi-disciplinary prenatal diagnosis (MPD) teams (N=47) registered by the French regulatory biomedicine agency . Results: Cancer geneticists (47 y .o , SD=8) and MPD team coordinators (55 y .o, SD=7) answered in 62% and 64% of the cases, respectively . Half the cancer geneticists reported a spontaneous demand from their consultees during the preceding year (50% for PGD, 59% for PND) . The issue of PGD, had been raised for the same pathologies as for PND but less frequently . PND was discussed for Familial Adenomatosis Polyposis (n=57), Retinoblastoma (n=45), NEM1 (n=34), Breast-Ovarian Cancer (n=20) and Li-Fraumeni syndrome (n=8) . MPD teams only reported 6 requests for PGD (5 for FAP; 1 for BRCA1) . When cancers are likely to occur during early childhood with high penetrance, high severity and no effective prevention/treatment, the acceptability of PGD/PND was very high (>80%) . When cancers are likely to occur before 50 y .o . but never in childhood and that an effective non deleterious prevention/treatment is available, the acceptability of both interventions was low but much higher for PGD (40%) than for PND (30 y,and those affected by cancer,or having children,or probands reported that knowing if their children were at risk was the main reason to undergo genetic testing (p> 0 .001 in all cases),while individuals
EMPAG Plenary Lectures 0 mutation identified in the family reported knowing their own risk as the main reason (p
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Volume 16 Supplement 2 May 2008 www
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Committees - Board - Organisation E
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Plenary Lectures ESHG PLENARY LECTU
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Plenary Lectures 6 Medical Genetics
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Concurrent Symposia ESHG CONCURRENT
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Concurrent Symposia s04.1 microRNA
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Concurrent Symposia 0 use of positi
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Concurrent Symposia s10.2 Non-invas
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Concurrent Symposia s13.1 Dysregula
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Concurrent Sessions ESHG CONCURRENT
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Concurrent Sessions receptor than t
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Concurrent Sessions an autosomal re
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Concurrent Sessions reporting, and
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Concurrent Sessions c06.3 clinical
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Concurrent Sessions c07.5 VLDLR (ve
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Concurrent Sessions 317,503 single
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Concurrent Sessions MYCN , E2F3 and
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Concurrent Sessions limb or thoraci
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Concurrent Sessions APC, BRCA1 and
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Concurrent Sessions identified 215
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Clinical genetics ESHG POSTERS P01.
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Clinical genetics In Cyprus, the mu
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Clinical genetics gene . Most of th
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Clinical genetics are indeed more d
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Clinical genetics P01.037 Validatin
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Clinical genetics 17 PKU patients f
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Clinical genetics L185R missense mu
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Clinical genetics P01.064 isolation
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Clinical genetics leles- is in acco
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Clinical genetics Sapienza” Unive
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Clinical genetics P01.090 Fragile X
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Clinical genetics P01.099 Deletion
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Clinical genetics other CNPs, the 1
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Clinical genetics FRAXA is the most
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Clinical genetics and PT 19 cm. Nec
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Clinical genetics P01.133 White mat
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Clinical genetics curved radii, uln
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Clinical genetics ered at the 33 rd
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Clinical genetics P01.160 character
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Clinical genetics P01.169 A variant
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Clinical genetics matological anoma
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Clinical genetics sition was identi
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Clinical genetics women ranges by p
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Clinical genetics MD2I or MDC1C sho
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Clinical genetics P01.215 the ctG r
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Clinical genetics pansion . Longer
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Clinical genetics frequency of this
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Clinical genetics mana, CUCS, Unive
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Clinical genetics P01.253 The first
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Clinical genetics consistent findin
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Clinical genetics P01.270 Genetic s
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Clinical genetics P01.279 Dilated c
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Clinical genetics objectives of our
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Clinical genetics P01.298 Hyperphos
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Clinical genetics P01.307 maternal
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Clinical genetics CM in monozygotic
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Clinical genetics P01.325 mowat-Wil
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Clinical genetics P01.334 Identific
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Clinical genetics birth defects is
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Clinical genetics The cause of this
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Clinical genetics were assumed to b
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Cytogenetics P01.369 three novel mu
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Cytogenetics P02.008 Reconfirmation
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Cytogenetics mosomal rearrangement
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Cytogenetics otide-based array plat
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Cytogenetics rangements ranged betw
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Cytogenetics 593 kb microdeletion a
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Cytogenetics We herewith report two
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Cytogenetics cise etiological diagn
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Cytogenetics deleted region contain
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Cytogenetics P02.078 mental Retarda
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Cytogenetics present on the right s
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Cytogenetics P02.096 Delineation of
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Cytogenetics P02.106 Aneuploidy of
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Cytogenetics biologic (cytogenetic)
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Cytogenetics - 60 .0) per 100 cells
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Cytogenetics netic map of deleted r
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Cytogenetics phic at delivery . Min
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Cytogenetics (according to question
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Cytogenetics P02.160 characterizati
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Cytogenetics DISCUSSION: In this st
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Cytogenetics from peripheral blood
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Cytogenetics did not influence upon
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Cytogenetics sented with ambiguous
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Cytogenetics normalities, cytogenet
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Cytogenetics P02.215 cytogenetic an
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Cytogenetics matozoa from carriers
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Cytogenetics of spermatogenesis in
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Prenental diagnostics Genotype Infe
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Prenental diagnostics T21 samples s
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Prenental diagnostics be withdrawn
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Prenental diagnostics The Consortiu
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Prenental diagnostics Here we descr
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Prenental diagnostics service deliv
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Prenental diagnostics cal Universit
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Prenental diagnostics nuchal transl
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Prenental diagnostics etal anomalie
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Cancer genetics forms . The typical
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Cancer genetics P04.012 A novel PtE
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Cancer genetics P04.021 comparative
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Cancer genetics P04.029 characteris
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Cancer genetics mutations detected
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Cancer genetics deleterious mutatio
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Cancer genetics Research Centre, Mo
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Cancer genetics P04.064 Dissection
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Cancer genetics P04.072 Acute promy
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Cancer genetics P04.081 Discordance
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Cancer genetics ity of the malignan
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Cancer genetics Method: mRNA level
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Cancer genetics preparations were o
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Cancer genetics ries.The identifica
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Cancer genetics P04.127 FGFR3 mutat
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Cancer genetics Our experience show
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Cancer genetics way consists of thr
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Cancer genetics and/or prognostic m
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Cancer genetics P04.162 HER-2/neu A
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Cancer genetics controls, by hetero
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Cancer genetics P04.179 molecular g
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Cancer genetics there are no change
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Cancer genetics P04.197 mutation in
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Molecular and biochemical basis of
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Genetic analysis, linkage, and asso
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Page 391 and 392: Normal variation, population geneti
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Page 471 and 472: Author Index Al-Owain, M.: P06.160
Page 473 and 474: Author Index 0 Baka, M.: P04.082 Ba
Page 475 and 476: Author Index Berwouts, S.: P09.20,
Page 477 and 478: Author Index P07.117 Buil, A.: P06.
Page 479 and 480: Author Index Cho, J.: P04.192, P08.
Page 481 and 482: Author Index Damy, T.: P01.057 Damy
Page 483 and 484: Author Index 0 Dror, A.: P05.074 Dr
Page 485 and 486: Author Index Fernandez-Real, J.: P0
Page 487 and 488: Author Index P06.310 Gavriliuc, A.
Page 489 and 490: Author Index Grinberg, Y. I.: P01.0
Page 491 and 492: Author Index Hood, L.: PL4.1 Hoogeb
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Author Index 0 P02.240, P09.63 Kala
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Author Index Kongstad, O.: P09.39 K
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Author Index Lee, C.: C13.3 Lee, D.
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Author Index Mahjoubi, F.: P02.045,
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Author Index P04.196 Meindl, A.: c0
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Author Index 00 Mottaghi, L.: P01.0
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Author Index 0 Oh, T. Y.: P01.084 O
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Author Index 0 Peñaloza, R.: P05.2
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Author Index 0 Proverbio, M.: P05.0
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Author Index 0 Rogers, M.: EP14.18
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Author Index 0 Scarcella, M.: P05.0
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Author Index P06.179 Sobrino, B.: P
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Author Index Taschner, P. E. M.: P0
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Author Index Urreizti, R.: P01.050,
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Author Index Voegele, C.: P04.121 V
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Author Index 0 P04.095, P04.106 Zem
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Keyword Index AMACR gene: P04.182 a
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Keyword Index cardiac: S04.1 Cardio
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Keyword Index Crohn: P07.022 Crohn
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Keyword Index evolution: P02.112, P
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Keyword Index 0 haemoglobinopathies
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Keyword Index KCNJ11: P05.026 KCNQ1
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Keyword Index MLH1: P04.010, P04.02
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Keyword Index osteochondrodysplasia
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Keyword Index PXE-like syndrome: P0
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Keyword Index 0 sperm: P02.205 sper
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Keyword Index venous thrombosis: P0
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2008 Barcelona - European Society of Human Genetics

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