2008 Barcelona - European Society of Human Genetics

EMPAG Posters
efficient predictor for the level of functioning and perceived pain in the
case of patients suffering from pulmonary cancer and digestive tube .
Overall, the results show that the negative attributional mechanisms
coupled with other socio-cognitive variables can increase the level of
depression for patients diagnosed with cancer, on the background of
lack of control and / or deficient functioning.
EP10.10
An international online survey of genetic health professionals’
practice involving family communication
L. E. Forrest 1,2 , M. B. Delatycki 1,3 , L. Curnow 3 , L. Skene 4 , M. Aitken 1 ;
1 Murdoch Childrens Research Institute, Parkville, Australia, 2 The University of
Melbourne, Parkville, Australia, 3 Genetic Health Services Victoria, Parkville,
Australia, 4 The University of Melbourne Law School, Parkville, Australia.
Communication of genetic information in families is becoming increasingly
important due to the low numbers of at-risk family members that
contact genetic services for counselling . Genetic counsellors and clinical
geneticists (genetic health professionals) are responsible for educating
and discussing the familial implications of a genetic diagnosis
with probands and consultands . However, genetic health professionals’
practice in family communication is largely unexplored .
This is the first international survey to be developed and validated
which aims to explore genetic health professionals’ current practice
involving family communication . The survey was administered online
and participants were recruited through the membership email lists of
organisations with clinical geneticists and genetic counsellors as professional
members .
The survey was completed by 628 genetic health professionals . The
results demonstrate that the majority of genetic health professionals
always identify which relatives are at-risk (95 .6%) and encourage
communication about the genetic condition to these family members
(95 .4%) . There were generally no differences between clinical geneticists
and genetic counsellors practice (p>0 .05) when counselling probands
about at-risk relatives, except when discussing which relatives
are at-risk of developing Huntington disease (p=0 .02) . Genetic health
professionals’ practice did not vary greatly when compared across four
scenarios which each involved a genetic diagnosis of haemochromatosis,
familial adenomatous polyposis, Huntington disease or a balanced
reciprocal chromosomal translocation .
The results of this survey provide an insight into genetic health professionals’
practice internationally and provide information for the development
of evidence-based practice for genetic and non-genetic health
professionals in the area of family communication .
EP10.11
Genetic counseling in the muslim World : the challenges
A. I. Al-Aqeel;
Riyadh Military Hospital/ King Faisal Specialist Hospital, Riyadh, Saudi Arabia.
Genetic counseling is the process in which an individual or a family
obtains information and advice about a genetic condition that may affect
the individual, his progeny, his relatives, or the family as a whole .
Based on this knowledge he can take the pertinent decision regarding
marriage, reproduction, abortion and health management .
Genetic counseling includes five themes, medical management, risk
determination, risk options, reproductive decision making, and support
services .It involves a partnership of physicians, genetic counselors,
and genetics support groups . The majority of clinical geneticists subscribe
to the principle of non-directive ness: information about risks,
natural history, treatment, and outcome are presented in a balanced
and neutral manner, but decisions about reproduction are left to the
family .
Public health authorities are increasingly concerned by the high rate of
births with genetic disorders especially in developing countries where
Muslims are a majority . Therefore it is imperative to scrutinize the available
methods of prevention and management of genetic disorders . In
the Muslim World and in the Kingdom of Saudi Arabia (KSA), genetic
counselling involves many challenges, as it has to be carried within the
context of religion and culture, according to Islamic ethical and cultural
background of the individual, with community-based genetic counseling
in one’s own language, in the presence of paucity of expertise,
resources and technology .
EP10.12
„Do you know why the doctor sent you?“ - characteristics of the
genetic counselling process in a multicultural antenatal context
in Johannesburg south Africa
T. Wessels1 , C. Penn2 ;
1 2 Division Human Genetics, Johannesburg, South Africa, University of the Witwatersrand,
Johannesburg, South Africa.
Few genetic counselling (GC) research studies have examined the GC
process itself, particularly within multicultural settings . State-funded antenatal
GC clinics in South Africa service culturally diverse populations
and this research study aims to investigate the nature of these encounters
. Using qualitative methodology, the required data is obtained from
GC sessions and post-session interviews with genetic counsellors and
the women using the service . GC sessions are video recorded, transcribed
and analysed using thematic content analysis . The results of
three sessions from two counsellors will be presented. Initial findings
suggest that there is an almost standard structured GC format used
by counsellors which includes: establishing patient’s expectations, explaining
GC role, obtaining information, providing information, facilitating
decision-making and making referrals . Time spent on each aspect
varies according to the women’s understanding of language and content
(as assessed by the counsellor), depth of emotional engagement
and counsellor’s skills of communication and relationship building .
Analysis of the nature of the sessions shows some themes emerging
and these include: encouraging discussions, attempts to connect,
clarifying techniques, simple language and patient beliefs . This initial
analysis showed heightened counsellor awareness of the need to use
comprehensible language to convey concepts and counsellor willingness,
but difficulty in eliciting and responding to emotional content in
the face of language and cultural differences .
EP10.13
Evaluation of genetic counselling in a hospital-based clinical
service
C. Serra-Juhé 1,2 , I. Valenzuela-Palafoll 1,2 , M. Del Campo 1,2 , S. García-Miñaúr 2 ,
T. Vendrell 2 , L. A. Pérez-Jurado 1,2 ;
1 Unitat de Genètica, Universitat Pompeu Fabra, U-735 CIBERER, Barcelona,
Barcelona, Spain, 2 Programa de Medecina Molecular i Genètica, Hospital Vall
d’Hebron, Barcelona, Spain.
In order to ascertain the effectiveness of genetic counselling it is necessary
first to evaluate how it is carried out and identify aspects that
need to be improved . There are few published studies on this topic . Our
aim was to evaluate the genetic counselling provided by the Genetics
Service of the Vall d´Hebron Hospital in Barcelona . Seventy-four out
of 108 cases/families (68%) seen in clinic from February to December
2007 were eligible and agreed to participate in this study . Each participant
answered a questionnaire before and after the consultation .
The whole survey was developed taking into account previous work
and publications on the evaluation of genetic counselling . We were
particularly interested to study the patient’s prior expectations and
whether they had been met during the consultation, patient’s satisfaction
(instrumental, affective and procedural aspects), and the level of
comprehension of genetic and medical information given during the
consultation . Other epidemiological data, such as gender or age, were
also collected . Subsequently, a statistical analysis was performed .
Participants were satisfied with the genetic counselling received (mean
score of 3 .42 / 4, equivalent to 85 .5% maximum satisfaction), and their
expectations were met in 79% . They answered correctly 84% of the
questions about medical and genetic information given to them by the
geneticist during the consultation . In summary, the evaluation of the
genetic counselling service was globally quite positive and allowed to
identify some aspects that could be improved .
EP10.14
clinician-patient interaction during genetic consultation and
counselling - Case study in five genetic clinics in Colombia
M. C. Rodas Perez 1 , J. Powell 1 , M. Thorogood 1 , J. C. Prieto 2,3 , I. Zarante 2 ;
1 Health Sciences Research Institute, University of Warwick, Coventry, United
Kingdom, 2 Human Genetics Institute, Javeriana University, Bogota, Colombia,
3 Bogota Health Service, Bogota, Colombia.
In Colombia and Latin America, genetics services are relatively new,
and little attention has been paid to the critical process of communication
during genetic consultation and counselling .