2009 Vienna - European Society of Human Genetics

Genetic counseling Genetics education, Genetic services, and Public policy
P01.23
incorporating genetics into primary care: Education as a tool
for health care professionals. the cAPABiLitY ARGENtiNA
Demonstration Project
C. Z. Barreiro 1 , U. Kristoffersson 2 , J. Schmidtke 3 , A. Kent 4 , A. L. Christianson 5 ,
R. Raouf 6 , I. Nippert 7 ;
1 Hospital de Pediatría Garrahan SAMIC, Buenos Aires, Argentina, 2 Lunds
University, Lund, Sweden, 3 Medizinische Hochschule Hannover, Hannover,
Germany, 4 Genetic Interest Group, London, United Kingdom, 5 University of the
Witwatersrand, Johannesburg, South Africa, 6 Ministry of Health, Cairo, Egypt,
7 Universitaetsklinikum Muenster, Muenster, Germany.
Background: We present the preliminary results of the Demonstration
Project of CAPABILITY in Chaco a Northeastern Argentine province.
Chaco has a highly endogamic population and no genetic services
were available. CAPABILITY is a 3-year Specific Support Action for the
Network of Excellence EuroGentest (2007-2009).
Objectives: The main objective of the Demonstration Project in Argentina
is to enhance genetic services, using training of the health
care team as a resource as well as to encourage the creation of complementary
projects financed by Argentina to maintain the structure
achieved and to reproduce the project in other areas of the country in
correlation with Needs Assessment Argentina.
Methods: We have designed a logical framework for the planning of
these processes, performed a diagnosis of the local situation, presented
the project to the health authorities, set up a platform with teaching
materials (PP presentation, printed syllabus, and CD) and a web
page, chosen a zone for the pilot workshop and implemented it in April
2008.
Outcome: Through training primary health care professionals who receive
patients with congenital defects have learned how to detect risk
factors and recognize dysmorphisms. The number of interconsultations
in the period April-December 2008 increased significantly compared
to the period April-December 2007. This increase has led to a
further need for genetic services and the building of a Genetic laboratory
in Chaco has been planned. We have ensured that the project will
be funded by the Hospital Garrahan of Argentina.
Funded by: EC Contract no.: FP6-037275
P01.24
the status of genetic information in health systems: a European
view
A. Cambon Thomsen1 , S. Julia1,2 , A. Pigeon1 , E. Rial-Sebbag1 ;
1 2 Inserm, U558 & University of Toulouse, Toulouse, France, Medical genetics
department, University hospital Purpan, Toulouse, France.
Genetic information can be considered as sensitive personal information
or health information and is regulated as such in many health
systems. In a number of cases its production and uses are specifically
regulated by law or other kind of regulatory texts. There is a huge
variability in the kind of regulations that apply to genetic information in
European countries and we analyse the relevance and influence of supra-national
texts in such regulations. The most recently adopted text
on this topic is at the Council of Europe level, namely, the “Additional
Protocol to the Convention on Human Rights and Biomedicine, concerning
Genetic Testing for Health Purposes” Strasbourg, 2008 (http://
conventions.coe.int/Treaty/en/Treaties/Html/203.htm); it specifies a
number of points complementary to those addressed in the “Convention
on Human Rights and Biomedicine” ,1997 (http://conventions.coe.
int/treaty/EN/Treaties/Html/164.htm). We will analyse this document in
relation to the situation in some chosen European countries (including
France, Spain, Sweden), especially with regard to definitions used
and principles applied, and with reference to the 25 recommendations
published by the European Commission in 2004 (http://ec.europa.eu/
research/conferences/2004/genetic/) following the work of an expert
group on ethical, legal and social aspects of genetic testing. The focus
will be on the issue of genetic exceptionalism, the place of genetic
information in public health regulations and how direct to consumer
offers on internet may challenge the existing regulations. This is of
particular relevance as regard to the French situation where the law
that regulates genetic testing is a “bioethics law” that is under revision
in 2009.
P01.25
A comparison study of the practices of genetic counsellors in
EUROPE
C. Cordier1,2,3 , M. Voelckel2,4 , H. Skirton5 ;
1 2 Department of Cytogenetics, Mulhouse, France, French Association of
Genetic Counsellors, Marseille, France, 3CREGEMES, Strasbourg, France,
4 5 Department of Medical Genetics, Marseille, France, University of Plymouth,
Plymouth, United Kingdom.
Genetic counsellors and genetic nurses are health professionals with
specialized training and experience in the areas of clinical genetics
and counselling. They work as members of the multi-disciplinary
healthcare team that provides genetic services.
In most European countries, the profession of genetic counsellor is
relatively new and is not always recognized. The European Network
of Genetic Nurses and Counsellors is working to establish standards
of practice and education to support developments in the profession in
Europe. The aim of this survey was to collect baseline data on practice
and education of genetic counsellors in European countries.
Members of the Network were asked to respond to an electronic survey
on the practice of genetic counselling in their own country. Data
have now been collected from respondents from 13 countries.
This survey indicates thet there are many differences in practice and
training across Europe. There is no legal standing for the profession
in some countries, so that genetic counselling could be practiced by
members of other professions. The training may be provided in a hospital
or university department of medicine, science or nursing. There
are also marked differences in the types of clinical responsibilities undertaken.
In some countries, the genetic counsellor can only undertake
limited duties, such as pre-clinic contact, while in others he can
work more autonomously, providing the full episode of care.
These data will help to provide a foundation for further development
in this profession.
P01.26
the impact of current motivational behaviours on the future of
genetic medicine and research. A systematic literature review.
B. S. Dhorajiwala, M. Keane, B. A. Jennings, A. Papageorgiou;
The University of East Anglia, School of medicine, Health Policy and Practice,
Norwich, Norfolk, United Kingdom.
Background: Ambitious longitudinal studies, such as Biobank UK, rely
on high volunteer recruitment rates. It is important for these studies,
and for the subsequent application of genetic medicine, to understand
motivational factors for the participants. Health behaviour models have
been used to predict responses and explain attitudes about taking up
healthcare.
Method: We carried out a systematic review that aimed to evaluate
all current evidence for motivation to participate in genetic testing
and summarize the findings using thematic analysis, grouping results
based on health behaviours. We completed a search of qualitative and
quantitative literature from 1996 to December 2008. Relevant studies
were identified from searches of AMED, EMBASE, MEDLINE, PsycINFO
and CINAHL databases. 342 relevant articles were retrieved in
abstract form, of which 18 were found to match our inclusion criteria for
review and data extraction.
Results: Analysis of the results encompassed multiple motivational factors
for willingness to participate in genetic testing. Specific examples
of grouped themes included:
● Personal, social and family history as predictive factors to participate.
● Perceived self-benefit from the development of knowledge and treatment
of disease.
● Perceived social benefit, aiding the understanding of the wider community.
● Ability to understand terminology and education in genetic research
as cues to action/participation.
There is a great need for the further development of our
understanding of what motivates individuals to participate
in genetic testing. Understanding these underlying
motivators can facilitate education, health promotion
and enhance both participation in future genetic studies
and the application of new technologies.