2008 Barcelona - European Society of Human Genetics

EMPAG Posters
with resultant specialist care for the families .
An audit of conditions referred to GHSV, uptake by families, role of
genetic counsellor at coronial and clinical service and outcomes over
a 2 year period is discussed and presented as a model for future and
extended collaboration between forensic and clinical medical genetics
unit .
EP05. Access to genetic services
(challenges in Europe)
EP05.1
Why don’t Deaf People come for Genetic counselling?
A. Middleton1 , S. Emery2 , G. Turner2 , A. Clarke1 , S. Sarangi3 ;
1Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff,
United Kingdom, 2Department of Languages & Intercultural Studies, School of
Management & Languages, Heriot-Watt University, Edinburgh, United Kingdom,
3Health Communication Research Centre, School of English, Communication
and Philosophy, Cardiff University, Cardiff, United Kingdom.
Despite genetic deafness being one of the most common genetic conditions,
deaf adults very rarely access genetic counselling, neither to
discuss deafness nor other conditions that may be running through
their family, e .g . cancer . Each genetics centre in the UK will have several
thousand deaf sign language users within their catchment area;
however, referrals are likely to be received for less than 5 deaf adults
per year . There may be many complex reasons behind this - e .g . lack
of information, assumptions about inheritance, mistaken beliefs of a
link between present-day genetics services and eugenic practices of
the past or fears about being told not to have children . This project
aims to gather the views of various different groups of people with
deafness, looking specifically at the above issues. 30 interviews have
been conducted in sign language and qualitative analysis performed .
Video clips of deaf people signing their views about genetics will be
shared as well as results from a large (n = 1000) quantitative study
gathering attitudes. The research findings offer suggestions as to why
currently genetics services are very rarely used by deaf patients in the
UK . Once more is understood about this then steps can be taken to
address access issues .
EP05.2
Genetic Led multidisciplinary clinics As communities of
Practice
S. A. Watts;
Guy’s Hospital, London, United Kingdom.
Care for patients and their families with genetic disease has become
increasingly complex in recent years due to a rapid rise in scientific
knowledge, expanding technological innovation and demand for services,
resulting in a need for multidisciplinary working . Although such
working is well documented in general healthcare there is sparse literature
within the specialty of clinical genetics . The results of an ethnographic
study, which sought to examine the way in which patient
care was organised and delivered in three multidisciplinary clinics
in a Regional Genetic Centre in the UK, will be presented . Different
models of healthcare were identified. However, data analysis using
the theoretical framework of Communities of Practice (Wenger 1998),
a theory of social learning and participation, suggests that functioning
of the clinics is more closely related to the way in which clinicians
establish a specific pattern of working together. The principal factor
that contributes to the success of the clinics is that of coherence . The
Genetic Counsellors play a crucial role to this coherence by acting
as maintainers of the clinic . The results of this study contribute to our
understanding of multidisciplinary working within clinical genetics and
are important for the future planning and implementation of healthcare
for patients with genetic disease .
EP05.3
European Network of Genetic Nurses and counsellors
C. Patch1 , H. Skirton2 ;
1 2 Guys and St Thomas’ NHS Foundation Trust, London, United Kingdom, University
of Plymouth, Taunton, United Kingdom.
While there are a growing number of non-medical genetic practitioners
in clinical practice in Europe, there is no European-wide organisation
dedicated to the needs of those professionals . In an environment
where the numbers of genetic tests are growing, the need to educate
and develop non-medical practitioners who are competent in genetics
is essential . Importantly, nurses and counsellors may also be working
in situations with few colleagues, where peer support is hard to
access . To address these needs, late in 2007, with the support of the
ESHG, a new European Network of Genetic Nurses and Counsellors
was initiated .
An invitation to join the network was sent to EuroGentest and ESHG
members, requesting that they pass it on to any genetic nurses or
counsellors known to them in their countries. Language is a difficulty
and colleagues from several countries have offered to translate the information
for colleagues who do not speak English . It is clear from the
responses that professionals in many countries are trying to develop
this new profession and are keen to use the network for support during
this important period .
A questionnaire has been sent to establish the aims and focus of this
network and the findings will be presented at an initial meeting of the
network at the EMPAG/ESHG conference in Barcelona
As of February 2008, the network has 72 registered members from
Netherlands, France, Spain, Portugal, Denmark, Sweden, Finland, Italy,
Croatia, Bulgaria, UK, Czech Republic, Greece, Belgium, Cyprus,
Ireland, Turkey, Israel, Switzerland, Poland and Iceland .
EP05.4
the value of personal interaction: can a family history
questionnaire replace a face-to-face family history gathering
appointment with the genetic counsellor for parents of children
with an undiagnosed genetic syndrome?
B. J. Dell 1 , G. Westwood 2 , C. Phelps 3 ;
1 School of Medicine, Cardiff, United Kingdom, 2 Wessex Clinical Genetics Service,
Southampton, United Kingdom, 3 Institute of Medical Genetics, Cardiff,
United Kingdom.
Evidence suggests that parents often feel unprepared for their contact
with Genetic Services (Skirton, 2006) . Whilst family history questionnaires
(FHQ) are increasingly used to gather data prior to attending a
genetics clinic, such questionnaires have been found to raise anxiety
(Phelps et al, 2006) and can act as a barrier to accessing services
(Geer et al, 2001) . This pilot study explored the impact of completing a
specially developed FHQ upon subsequent perceptions of providing a
family history face-to-face .
Seven parents completed the FHQ and an evaluation questionnaire .
Results revealed that whilst the completion of the FHQ did not have
any overall negative impact, it did have the potential to raise distress
when asking for sensitive details such as miscarriages .
Four parents also completed telephone interviews to explore their perceptions
of the FHQ and their appointment with the Genetic Counsellor
. Thematic analysis revealed that parents encountered obstacles to
the completion of the FHQ and that they appreciated their personal
interaction with the Genetic Counsellor, which provided an opportunity
for them to gain reassurance, to ask questions about the referral process
and to clarify the relevance of the family history details .
The combination of both the FHQ and the Genetic Counsellor clinic
was the preferred option, permitting the parents to be better prepared
to utilise their contact with the genetic services .
EP06. Lay beliefs and public understanding
of genetics
EP06.1
Using ethnography to optimise clinical practice in cancer
genetics services
M. T. Saleh 1,2 , B. Meiser 2 , K. Tucker 3 , J. Kirk 4 , M. Eisenbruch 5 , K. Barlow-Stewart
1 ;
1 Centre for Genetics Education, St Leonards, NSW, Australia, 2 The University
of NSW, Sydney, Australia, 3 Hereditary Cancer Clinic, Prince of Wales Hospital,
Sydney, Australia, 4 Familial Cancer Service, Westmead Hospital, Sydney, Australia,
5 Monash University, Melbourne, VIC, Australia.
This project explores, using ethnography, the cultural beliefs about
inherited susceptibility to cancer amongst the Arabic-Australian Community
.