2008 Barcelona - European Society of Human Genetics

EMPAG Posters
EP14.12
the role of the specialist midwife in Fetal medicine Units.
F. Pancetti 1 , S. Boxall 2 , C. Bravi 3 , A. Kustermann 3 , P. Simi 1 , I. Cetin 3 , D. A.
Coviello 3 ;
1 Dipartimento di Ostetricia e Ginecologia, AOU Pisana, Pisa, Italy, 2 Fetal Medicine
Unit, Princess Anne Hospital, Southampton, United Kingdom, 3 Fondazione
IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan,
Italy.
The role of the midwife in fetal medicine unit in UK is quite well defined.
Some specific actions are: advocate and support for women;
provision of information about the nature of the abnormality (both written
and verbal) for women and other health professionals; counselling
women about their choices regarding the pregnancy, and preparing
women for either termination of pregnancy or continuing with a baby
who has abnormalities; led clinics for antenatal counselling and follow
up after TOP and bereavement care; communication with other
health professionals to ensure continuity of care for women . In Italy
the role of specialist midwife is still quite heterogeneous, depending
on the presence or not of a well defined Fetal Medicine Units. We
present a collaborative effort to share experience between UK and
Italian midwife in defining the appropriate skill required as advanced
communication skills; counselling training; specialist knowledge about
prenatal diagnosis; highly developed analytic and judgemental skills;
planning and organisational skills; technically adept; leadership skills;
IT literate; support for self- emotional and psychological .
The aim of this collaborative work is to define a general framework that
describe the role of the specialist midwife in fetal medicine in order to
establish a model that can be applied internationally .
The work of the specialist midwife in Fetal Medicine is challenging and
rewarding, and offers scope for providing excellence in clinical care for
pregnant women and their families .
EP14.13
collecting data of HD patients for the Euro-HD Registry: an
uptodate from Rome sites
P. Zinzi 1 , A. Fasano 2 , A. Guidubaldi 2 , T. Ialongo 2 , G. Loria 2 , F. Soleti 2 , A. R.
Bentivoglio 2 , S. Romano 1,3 , M. Spadaro 1,4 , G. Jacopini 1 , M. Frontali 4 ;
1 Institute of Cognitive Science and Technologies, National Research Council,
Rome, Italy, 2 Institute of Neurology, UCSC, Rome, Italy, 3 UOC Neurology
Azienda Ospedaliera Sant’Andrea, Rome, Italy, 4 Institute of Neurobiology and
Molecular Medicine, CNR, Rome, Italy.
The Euro-HD Network is aimed at providing a platform for professionals
and people affected by HD and their relatives in order to facilitate
collaboration throughout Europe . The core of the study is the Registry,
a systematic collection of clinical research data of HD patients, of mutation
carriers and of individuals who are part of HD families .
Two study sites participate to Euro-HD network in Rome: one is at
the Consiglio Nazionale Ricerche (C .N .R .) and is based on the long
lasting cooperation between two main institutes of public research, the
Institute of Cognitive Sciences and Technologies (I .S .T .C/CNR) and
the Institute of Neurobiology and Molecular Medicine (I .N .M .M/CNR);
the other one is at the Neurology Department of the Università Cattolica
del Sacro Cuore (U .C .S .C .) Both sites are involved in running an
outpatient clinic for HD patients started in 1989 as a common research
project and which has assumed, since 1994, the characteristic of a
multidisciplinary clinic . The individuals followed at the clinic are 312:
65% are symptomatic patients, 20% are subjects at risk (pre-test neurological
examination), 15% are asymptomatic gene carriers (post-test
follow-up) .
For the Euro-HD project, from Sept 2004 to Dec . 2007 we have completed
and entered into the Registry the data collection of 75 patients
(37 Males and 38 Females): 69 symptomatic patients and 6 asymptomatic
gene carriers . For further 15 patients we are now completing
the last forms and their data will be entered quite soon .
Data analysis and comments on different aspects of data collection
will be reported .
EP14.14
The risks & benefits of screening for Klinefelter syndrome: A
critical analysis
A. S. Herlihy 1,2,3 , J. Halliday 1,4 , R. I. McLachlan 2,3 , M. Cock 3 , L. Gillam 1,5 ;
1 Murdoch Childrens Research Institute, Melbourne, Australia, 2 Monash University,
Melbourne, Australia, 3 Andrology Australia, Melbourne, Australia,
4 5 Melbourne University, Melbourne, Australia, Melbourne University, Melbourne,
Austria.
Background: Klinefelter Syndrome (KS) is a genetic condition (47,XXY)
affecting males and resulting in a spectrum of clinical features, ranging
from infertility, androgen deficiency and breast development to varying
levels of cognitive, social, behavioural and learning difficulties. The
prevalence has been estimated to be 1:650, yet up to 70% of males
remain undiagnosed. Early identification has been advocated for many
years, but population-based genetic screening for KS has never been
explored .
Aim: To identify the potential risks and benefits that could arise from
implementing population-based genetic screening for KS at different
ages and stages of development .
Method: A framework was developed to assess the medical (hormone,
therapeutic interventions), psychological (self-esteem, relationships)
and ethical (autonomy, associated stigma) implications of genetic
screening for KS in four hypothetical age-dependent scenarios - newborn,
infancy, primary school entry and high school entry - chosen as
providing opportunistic circumstances in which an individual might be
evaluated . The outcomes have been considered in relation to diagnosis
in adulthood and the most common scenario of lifelong non-diagnosis.
Evidence of potential risks and benefits associated with KS
diagnosis was collected by analysis of the existing literature .
Results: Our analysis indicates that while there is information on available
medical, educational and psychological interventions, there has
been no consideration of the impact of age of diagnosis and the related
timing of interventions on psychosocial and other quality of life
outcomes .
Conclusion: More research is needed to fill these evidential gaps and
inform decisions regarding population-based genetic screening for
KS .
EP14.15
Genetic counselling training and supervision in a second
language: is it different?
R. D. Vanneste, J. Fitzpatrick, L. Russell;
McGill University, Montreal, QC, Canada.
Purpose: Live supervision is a key component of the training of genetic
counsellors . However, the ways in which training and supervision differ
for students and supervisors when these activities occur in a second
language have not yet been explored .
Method: A questionnaire was distributed to members of the CAGC and
NSGC using the online survey provider, www .surveymonkey .com® .
Data were analyzed using a consensual qualitative method modified
from Hill et al . (1997) .
Results: Supervisors find it difficult to assess students’ psychosocial
counselling skills in the second language, and feel personal discomfort
in having an incomplete understanding of session content . Students, in
turn, describe decreased competence when counselling in their second
language, and a greater focus on the medical aspects than on the psychosocial
dimensions . Interestingly, students whose second language
is French (mainly Canadian) describe more negative experiences and
more difficulties in certain areas, such as building rapport with patients,
than do students who counsel in Spanish (mainly American) . This may
reflect differences in patient expectations for receiving service in their
native tongue in Canada compared to the US . The language of training,
whether it is the student’s first or second, was described as having
a major impact on counselling abilities and comfort level in the second
language . Overall, however, the use of second languages in training
seems to have a positive impact for both students and supervisors,
leading to increased satisfaction in providing linguistically and culturally-centered
patient care. The implications of these findings for genetic
counselling training will be discussed .
EP14.16
“Asking for oncogenetic counseling”: evaluation of
psychological aspects, need for information and perceived risk
E. Razzaboni, D. Turchetti, D. Fabbro, E. Pompilii, A. Petracca, C. Graziano, A.
Wischmeijer, M. Seri, G. Romeo;
Operative Unit of Medical Genetic, Bologna, Italy.
The amount of clients seeking oncogenetic counselling (OGC) is rapidly
growing up . Understanding communicational aspect and clients’
styles of information seeking, together with personality, is fundamental