2008 Barcelona - European Society of Human Genetics

EMPAG Posters
EP14.07
Psychosocial and demographic profile of a deaf community in
the Altai Republic: a pilot study
O. L. Posukh, O. V. Posukh;
Institute of Cytology and Genetics, Novosibirsk, Russian Federation.
The study is based on data obtained from self-completion questionnaires
designed to evaluate marital status and marriage patterns of
deaf persons, their communication mode, access to education, employment
and information, and their living standard and social status .
The participants belonged to the association of deaf and hard-of-hearing
people in the Altai Republic (south Siberia, Russia) .
In recent years total number of the association members varied from
150 to 160 people at the age of 18-85 years with approximately equal
gender ratio . Most of them have congenital or early onset severe-profound
deafness . About two thirds of adult members are married to deaf
partner and almost all the young unmarried people with hearing loss
tend to prefer deaf partner in future . Deaf participants indicated sign
language as communication mode with other deaf persons, whereas
in communication with hearing people they use lip-reading, writing,
and oral language skills, if any . Their embarrassment in contacts with
hearing people due to mutual misunderstanding leads to preferential
contacts with deaf people . Most of participants consider their hearing
loss as disability which limits access to education and employment,
and decreases their social status and living standard .
Our molecular-genetic studies revealed deafness caused by Cx26mutations
in not less than 15% of examined members of this association,
and several families with hereditary deafness of yet unknown
etiology .
This study has implications for genetic counselling for families with
hereditary deafness, and provides insight to deafness prevalence pattern
in the Altai Republic .
Work is supported by Russian Foundation for Humanities (07-06-
00765a) .
EP14.08
Psychosocial impacts of the neonatal hearing screening
R. Heitor 1,2 , H. Romano 3 , I. Rouillon 1 , C. Pol 4 , N. Loundon 1 , C. Rebichon 1 , E.
Garabédian 1 , F. Denoyelle 1 , S. Marlin 1,2 ;
1 Hôpital Armand Trousseau, Paris, France, 2 Centre de référence des Surdités
Génétiques, Paris, France, 3 Hôpital Henri Mondor, Créteil, France, 4 Hôpital du
Kremlin Bicêtre, APHP, Le Kremlin Bicêtre, France.
Since February 2005, an experimental program of neonatal screening
of the congenital deafness is in process in France .
Our purpose is: - to estimate the psychological impacts of the screening;
- to measure the risk of creating an anxiety in the parents and thus
to hinder the development of the attachment mother / child links, which
set up in the very early neonatal period; by the study of the false positive
families (hearing children with pathologic automatic ABRs) .
A questionnaire was realized, and sent by mail to families, accompanied
with a letter explaining the reasons of our research. The first part
of the questionnaire concerns the information which was given to the
parents before the screening, the result obtained at the test and the
information which followed this result . The second part of the questionnaire
focuses in the way back at home looking forward to the consultation
with the ENT, in which the hearing defect will be confirmed or not.
The third part of the questionnaire concerns the feelings of the parents
at the time of the ENT consultation, the information given to them,
and the impact of the final diagnosis. Then the last part is about the
general feelings of the parents as regards the neonatal screening of
the deafness and finally the impact of this screening on their relations
with their baby .
This work allows us to give some recommendations to improve this
screening in the future .
EP14.09
Exploring the impact of genetic testing for Familial
Hypercholesterolaemia: a family perspective.
M. S. Watson 1 , D. Townsend 2 , I. McDowell 2 , K. Featherstone 3 ;
1 Institute of Medical Genetics, Cardiff, United Kingdom, 2 Department of Medical
Biochemistry, Cardiff, United Kingdom, 3 CESAGEN/ School of Nursing & Midwifery,
Cardiff, United Kingdom.
Familial Hypercholesterolaemia (FH) is an autosomal dominant disorder
with a prevalence of 1 in 500, approximately 110,000 people are
thought to be affected in the UK, but unfortunately the majority remain
undiagnosed . Effective preventative treatment is available, if untreated
it leads to premature Coronary Heart Disease (CHD) and death . Cascade
testing using genotyping has recently become available in South
Wales on a research basis .
The main aims of this study were to explore how patients and their
family members receive, make sense of and transmit genetic information
and the impact this dynamic process has on perceptions of risk .
Face to face semi structured interviews were conducted with seven
patients in whom a clinical diagnosis of FH had been made and who
had recently undergone genetic testing and received a mutation positive
result . A further seven interviews were conducted with members of
their families who had also undergone genetic testing to follow the flow
of this genetic risk information . The interview transcripts were thematically
analysed to gain insight into their experiences .
The findings suggest that this genetic information help the patients to
make sense of their condition . Family members reported an open style
of communication although this process and emotional responses to
genetic risk information were complex . This research highlights some
key issues for future research of this complex dynamic process .
EP14.10
carriers of a cancer pre-disposition gene: Gaining an insight of
their ongoing needs
M. K. Kentwell, R. D’Souza, M. Bogwitz, F. Macrae, G. Lindeman, L. Hodgkin;
Familial Cancer Centre, Royal Melbourne Hospital, Parkville, Australia.
Research has shown that people who carry a cancer predisposition
gene (gene carriers) value follow up from a Familial Cancer Centre
(FCC) after learning of their results . Gene carriers may require ongoing
support over time, as their needs in adjusting to their genetic status
may change through the family life cycle . This ongoing support may
include a discussion of issues around impact and adjustment to the genetic
test result . From an FCC perspective, communication of genetic
information to family members also needs to be explored .
The follow up practice at the Royal Melbourne Hospital Familial Cancer
Centre has involved a yearly phone call from a Genetic Counsellor
to a gene carrier . This format may not be optimal for many gene carriers.
As the number of gene carriers increase, many FCCs may find
their increased workload unsustainable .
This presentation will summarise a trial of an alternative strategy of
supporting gene carriers over time. In addition, issues identified by the
gene carriers themselves will be described .
EP14.11
comparison of experiences between italian and other European
Genetic Nurses
M. Regele 1 , M. Gabaldo 2 , F. Benedicenti 1 , F. Stanzial 1 , C. Castellan 1 ;
1 Genetic Counseling Service of the Province of Bolzano/Bozen, Bolzano/
Bozen, Italy, 2 Section of Biology and Genetics, Dpt.of Mother and Child and of
Biology-Genetics, University of Verona, Italy.
The professional figure of the Genetic Nurse (GN) is well defined in
some European and extra-European Nations . In these countries there
are formal courses of studies, which allow the students to graduate
to GN .
In Italy there isn’t either a formal acknowledgement of the figure of the
GN, nor does exist a specific education for non-medical personal working
in clinical genetic institutes .
Nevertheless we knew that some people, scattered among Italy and
generally without knowing of the existence of other colleagues sharing
the same mansions, were working in the field of clinical genetics.
With the aim of creating a national net of GNs and of promoting the
official situation of this figure after specific learning programmes, we
made the first census of the Italian GNs.
After phone contact with the directors of the centers for clinical genetics,
we submitted a questionnaire to the people working as GNs and
analyzed the results .
The activities of the GNs in other countries were taken from literature
and through direct contact with Dr . Heather Skirton .
Our data showed marked heterogeneity of duties of the GNs in Italy but
the majority of the mansions matches that of the foreign colleagues .
The Italian GNs feel in need of a specific course of studies to prepare
them to a highly specialized work, which should be acknowledged by
the national health system .