2009 Vienna - European Society of Human Genetics

Genetic counseling Genetics education, Genetic services, and Public policy
P01.27
Genetic screening programmes in Europe
P. Javaher1 , E. Nyoungui1 , H. Kääriäinen2 , U. Kristoffersson3 , I. Nippert4 , J.
Sequeiros5 , J. Schmidtke1 ;
1 2 Medical School of Hannover, Hannover, Germany, Finland and National
Public Health Institute, Helsinki, Finland, 3University Hospital, Lund, Sweden,
4 5 Universitaetsklinikum Muenster, Muenster, Germany, Institute for Molecular
and Cell Biology and ICBAS, University Porto, Porto, Portugal.
Objectives: Genetic screening is defined as any kind of test performed
systematically for the early detection or exclusion of a genetic disease,
genetic predisposition or resistance to a disease, or to determine
whether a person carries a gene variant, that may produce disease in
his or her offspring.
Methods: This survey intends to present the current (2006-2008) status
of genetic screening programmes as a best-effort collection of the genetic
screening landscape in selected European countries, building on
a first assessment of genetic screening programmes in Germany with
the production of a final report in 2003. The data collection was performed
on the basis of sources via internet, including PubMed search,
websites of national screening authorities and societies and some other
organisations, as well as data from a self-designed questionnaire,
addressing the conditions screened in prenatal, population-based carrier,
and cascade screening programmes, and organisational aspects
of screening programmes in selected European countries.
Results and discussion: In almost all countries, there are nationwide
newborn screening programmes for PKU (in Finland as regional programme
targeted to immigrants) and for CH. Apart from Estonia, Finland,
Latvia, Lithuania, Norway and Slovenia there are other conditions
screened in different countries. These additional conditions vary
per country, sometimes depending on prevalence but more often for
historical and/or political reasons. A data comparison shows that there
is a heterogeneity in conditions screened, screening methods, organisational
aspects of screening programmes, and conditions screened
in prenatal, population-based carrier, and cascade screening programmes
among the European countries surveyed.
P01.28
People’s concerns and attitudes towards genetic testing for
multifactorial diseases
V. V. Markova, O. A. Makeeva, V. P. Puzyrev;
Research Institute of Medical Genetics SB RAMS, Tomsk, Russian Federation.
The high rate of genetic technologies developments and their forthcoming
application into disease management and other spheres of life
provoke a lot of concerns about its short- and long-term effects both in
lay people and health care professionals .
A survey of 2000 Russian respondents had been conducted to study
peoples’ attitudes towards different aspects of genetic testing.
Results: 85% of respondents expressed their desire “to know more
about genome”; 68% of survey participants would like to know about
probable future diseases; and 89% believed they would try to change
their lifestyle or take medications in order to avoid a disease if a high
risk were identified. Among the reasons which can force people to undergo
genetic testing the most important was people’s anxiety about
health which was related to the self-reported individuals’ health status.
18% of respondents answered that “nothing” can prevent them from
undergoing genetic testing for disease predisposition. At the same
time 48% believed that if genetic testing results will be publicaly available,
tested people can be discriminated in society.
Results of the survey confirm the high level of public interest and a very
positive perception of novel genomic technologies as well as highly
overestimated expectations which call for special efforts in educating
lay people and health care professionals. The high level of people’s
concerns about genetic discrimination agues for the necessity of regulation
in this sphere.
P01.29
EuroGenGuide: Patient Led Education and Development for
Genetic Testing in Research and Medicine
A. J. McKeown, VSOP, The Netherlands, Milan Policlinico, Italy, University
of Muenster, Germany, WANDA, The Netherlands, Heart UK, EFB, The Netherlands,
CEEGN, Croatia, GAMIAN, Romania, Fighting Blindness, Republic
of Ireland, Health Coalition Initiative, UK, Rare Disorders Belgium, Alzheimer
Europe, Belgium;
Genetic Interest Group, London, United Kingdom.
EuroGenGuide is a EC-funded project, aiming to provide information
about genetic testing and research to patients, the wider public and
health professionals. The information will take the form of a ‘manual’in
two parts: one with information for patients or people considering taking
part in research and the other with educational materials about
genetics for health professionals.
There is considerable disparity in Europe between the relatively widespread
availability of genetic tests and therapies, and the uneven
distribution of information and access to both these and counselling
services for those affected by genetic disorders. EuroGenGuide aims
to reach into areas where information is limited or where clinicians
and patients know little about genetics and the resources available to
them in taking advantage of genetic technology and services, and help
to resolve this often life-determining gap. EuroGenGuide’s two-part
manual will provide a readily-accessible comprehensive document
and website for use by all which will help to generate a robust model of
informed consent for those making decisions based on their options in
respect of genetic testing or research.
The EuroGenGuide team is comprised of thirteen organisations from
across Europe, and co-ordinated from London by the Genetic Interest
Group. Now in its final year, the EuroGenGuide team is working to
publicise and raise the profile of the guide ready for its launch in December
2009. Please feel free to get involved by registering to receive
the newsletter, take the user survey and discuss issues of relevance
on the forum, at http://www.eurogenguide.eu.
P01.30
Genetics education for dental students
D. T. Stefanescu 1 , N. Scribanu 2 , E. Severin 3 ;
1 Genetic Lab, Bucharest, Romania, 2 Georgetown Univ Medical Ctr, Washington,
DC, United States, 3 ”Carol Davila” Univ Med Pharm, Bucharest, Romania.
The aim of this study is to optimize the genetics education of dental
students and residents based on the implications and applications of
genetic knowledge and skills to dental health and patient care.
Materials and Methods: It was found a rich literature using PubMed
search for articles on the topic studied. We used clinical cases in the
collection of our genetics department too.
Results - The study of literature has enabled us evidence of many examples
that demonstrate the use of genetic research in clinical practice:
the identification of gene mutations that cause isolated inherited dental
anomalies, gene mutations with pleiotropic effects, genetic testing for
oral cancer susceptibility and pre-symptomatic diagnosis of periodontal
disease. Changes of genetic structure produce the large diversity that
may be encountered in clinical practice. In dental schools, educators
and academic staff provide the opportunity for students to learn how
to translate genes into dental health.Therefore, students and residents
should be trained to understand the impact of genetic modifications
on oral health, to recognize genetically determined or environmentally
induced anomalies, to know the genetic tests available to identify the
cause of diseases or abnormalities of craniofacial complex, to provide
the patient best treatment possible based on the genetic profile and
guide the patient to genetic counseling.
Conclusions - Genetics has the potential to shape the dental education
and practice. In the context of genetic medicine, the dentist will
integrate the tools of genetics in their dental practice for prediction,
prevention and personalized therapy.
P01.31
Genetics Made Easy - Non-profit informative web site on Human
Genetics
M. T. Solé-Pujol 1 , J. M. Carrera-Macia 2 , J. M. Cantú-Garza 3 , F. Solé-Ristol 4 , J.
Antich-Femenias 1 ;
1 Centro Genética Médica, Barcelona, Spain, 2 Instituto Universitario Dexeus.,
Barcelona, Spain, 3 Instituto Mejicano del Seguro Social., Guadalajara (Jalisco),
Mexico, 4 Hospital del Mar, Barcelona, Spain.
EDUCATIONAL web site on human genetics.
GENETICS MADE EASY http://www.geneticsmadeeasy.com
Genetics made easy is a non-profit informative web site on Human Genetics
that brings general population and scientific community closer
together. The principal aim of the web site is to disseminate the scientific
advances and knowledge that take place in genetics and how the
general population (students, couples wanting to have a baby, clini-