2008 Barcelona - European Society of Human Genetics

EMPAG Posters
there is not a corresponding word in their given language . Interviews
consisted of standard questions as well as an exploration of generally
held beliefs about inheritance, and how decisions are made in the
family culture .
A review of the questionnaire and the outcomes of these interviews
will be discussed .
EP10.19
the genealogical tree is a very important stage in genetic
counseling of the families with mentally retarded children
I. Tomulescu1 , H. Vaida2 , M. Marian2 , G. Roseanu2 ;
1 2 Faculty of Sciences, Oradea, Romania, Faculty of Socio-Human Sciences,
Oradea, Romania.
In humans, some traits are abnormal and they have diverse etiologies .
Certain traits appear isolated in a person and others appear associated
in a diseases called syndromes .
To make a pedigree of an individual or a family, it’s a necessity to
gather data about the family or individual . We investigated 600 children
hospitalized on period of 2000-2002 in Neuropsychiatric Infantile
Section of Neurology and Psychiatry Clinical Hospital from Oradea .
Results and discussions
In 600 children that were examined, 397 presented different levels of
mental deficiency. We made family investigations and genealogical
tree .
More than 65% of children with mental deficiency have one or more
affected relatives in family . The relatives may be affected by congenital
abnormalities and/ or mental diseases . The incidences of affected
relatives are important in groups with mild and moderate mental deficiency.
In the group with severe mental deficiency, the incidence of
affected relatives is lower .
This result may be an argument for the hypothesis that genetic factors
are very important in the inheritance of mental deficiency. It seems
that, elementary, severe mental deficiency appears because of genes
and chromosomes disorders, and secondary because of dominant
or recessive inheritance . The data about family are systematized in
pedigree or genealogical tree of the family . Analysing the pedigree of
a family, we can say that some traits are inherited or not . Also, we can
anticipate some normal or abnormal traits of individuals of the next
generation .
EP10.20
Psychological and familiar impact of genetic diagnisis in
oculopharyngeal muscular dystrophy
M. Fernández-Prieto 1 , M. J. Sobrido 1,2 , B. Quintáns 3,2 , F. Barros 1,2 , J. L. Castro
1 , J. Pardo 4 , A. Carracedo 1,2,5 ;
1 Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela,
Spain, 2 Centro de Investigación en Red de Enfermedades Raras (CIBERER),
ISCIII, Santiago de Compostela, Spain, 3 Hospital Clínico de Santiago-SER-
GAS, Santiago de Compostela, Spain, 4 Servicio de Neurología-Hospital Clínico
de Santiago de Compostela, Santiago de Compostela, Spain, 5 Grupo de Medicina
Xenómica-USC, Santiago de Compostela, Spain.
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, slowly
progressive muscular disease . Inheritance is autosomal dominant;
penetrance is full, age-dependent . Symptoms are paresis of extraocular
eye muscules, dysphagia and limb weakness . Because it is not
considered a very disabling disorder and molecular diagnosis is simple
- making it easily accessible to almost any laboratory- testing may be
requested without much concern about psychological and social aspects
. Psychological and familiar impact of this diagnosis has not been
tackled . Out of 76 patients with suspected OPMD seen in our unit, 45
(29 families) were positive . In families referred for genetic counselling
we carried out a psychological evaluation with a semi-structured indepth
interview analyzing motivations, attitude and anxiety . We found
an average of 1 .8 secondary cases (symptomatic or asymptomatic) per
index case . 82 % of predictive analyses were positive . We received no
requests for antenatal diagnosis . Twelve months after genetic testing
another psychological exam was done using HAD and a semi-structured
in-depth interview to assess personal and familiar impact of the
diagnosis. Although molecular confirmation of OPMD did generally not
cause serious distortion in psychological aspects or in the familiar core,
some aspects of family life were indeed modified. Even if not perceived
as a severe disease in their relatives, for many individuals the possibility
of a predictive diagnosis caused significant stress. A protocol for
genetic counselling and psychological assessment are fundamental in
this disease . Reasons for the low proportion of secondary cases may
be multiple and should be further investigated in the future .
EP10.21
sense making in Predictive Genetic testing of Hereditary
cancer. An interview study
E. Sumalla1,2 , C. Ochoa1 , R. Martinez1 , C. Yague1 , M. Salinas1 , I. Blanco1 ;
1 2 Genetic Counseling Unit, L’Hospitalet, Spain, Fundació P Gastroenterologia
Dr. Vilardell, Barcelona, Spain.
Purpose: Mankind involves an active effort to find a purpose in the
events that surround us . This construction of meaning is a process
that is reinforced with stressful events that may be inconsistent with
our beliefs about when and why things happen . The aim of this study
was to evaluate, from a narrative perspective, how biographical factors
may contribute to the formation of different meanings of the genetic
diagnosis .
Methods: Three pairs of siblings (n = 6) identified as carriers of a genetic
defect were evaluated using semi-structured interview designed
to identify vital changes associated with the process of genetic counseling
. Three independent researchers conducted content analysis
and identified significant differences between each pair of interviews
by consensus .
Results: In pair of siblings A, the presence of other stressful events
minimize the potential harmful of the genetic diagnosis experienced by
one of the brothers; in pair B, the relationship with a very affected close
relative encourages active coping problem with one of the members;
and in C, the concept of brotherhood and sacrifice allow one of the
sisters assume their genetic alteration as an opportunity to increase
their family privacy .
Conclusions: Despite sharing diagnosis, family history of cancer and
genetic counseling process, the narratives of the siblings presented
significant differences between them. The use of different frameworks
of interpretation according to the biography of each subject provides
the genetic diagnosis of sense and different consequences .
EP10.22
Delivering genetic counselling via telehealth: practitioner‘s
experience of a virtual consultation
E. M. Zilliacus 1,2 , B. Meiser 1,3 , E. A. Lobb 4,5 , J. Kirk 6 , A. Spigelman 7 , K. Barlow-
Stewart 8 , L. Warwick 9 , K. Tucker 10 ;
1 Psychosocial Research Group, Randwick, Australia, 2 School of Psychiatry,
University of New South Wales, Randwick, Australia, 3 Prince of Wales Clinical
School, University of New South Wales, Randwick, Australia, 4 Medical Psychology
Research Unit, Sydney, Australia, 5 WA Centre for Cancer & Palliative Care,
Perth, Australia, 6 Familial Cancer Service, Westmead, Australia, 7 Hunter Family
Cancer Service, Newcastle, Australia, 8 Centre for Genetic Education, Royal
North Shore Hospital, St Leonards, Australia, 9 ACT Genetic Service, Woden,
Australia, 10 Department of Medical Oncology, Randwick, Australia.
Telehealth, or videoconferencing, is an evolving field in general and
cancer genetics . The aim of this study was to qualitatively explore clinicians’
perspectives and experiences of delivering telehealth genetic
counselling . Semi-structured interviews were conducted with geneticists
and genetic counsellors . The interviews explored experience,
satisfaction, aims of the service, advantages and disadvantages of
the technology, and roles within the consultation . RESULTS: Fifteen
practitioners participated . They reported that telegenetics increased
staff efficiency and accessibility to outreach clinics. The geneticists
presented as the consulting specialist, delivering medical information
and screening advice and depended more on the genetic counsellor to
assess non-verbal behaviour and subtle emotional cues from the client
. Consultations were described as being more formal, and possibly
less open to emotional expression than face-to- face consultations . Interactions
on-screen were moderated by the physical positioning of the
genetic counsellor and client . When the counsellor was positioned “off
screen”, a medically modelled dyadic interaction occurred and nonverbal
cues between the counsellor, the geneticist and the client were
obscured . When positioned “on screen”, counsellors reported they offered
a higher level of psychosocial support before, during and after
the telehealth session .
Practitioners were highly satisfied with telegenetics but acknowledged
the trade off involved in the geneticist not being physically present .
The technology is efficient and offers sufficient resolution to attend to