2008 Barcelona - European Society of Human Genetics

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