2009 Vienna - European Society of Human Genetics

Genetic counseling Genetics education, Genetic services, and Public policy
P01. Genetic counseling Genetics education,
Genetic services, and Public policy
P01.01
Association analysis of the ActN3 R577X polymorphism and
performance phenotypes in young soccer players in slovakia
S. Mačeková 1 , A. Sovičová 1 , R. Horváth 2 , J. Bernasovská 1 , I. Bernasovský 1 ,
E. Petrejčíková 1 , M. Soták 1 , A. Bôžiková 1 , I. Boroňová 1 , D. Gabriková 1 , P.
Švíčková 1 ;
1 Institute of Biology, Faculty of Humanities and Natural Sciences, University of
Presov, Presov, Slovakia, 2 Institute of Education of Games, Faculty of Sport,
University of Presov, Presov, Slovakia.
Physical performance - related phenotypes are influenced by a combination
of genetic and environmental factors. The functional allele
(577R) of ACTN3 gene, which encodes human α-actinin-3, has been
reported to be associated with elite sprint athletic status. The 577XX
genotype enhances endurance performance. The aim of the presented
study was to determine the frequency distribution of ACTN3 (R577X)
gene in children various sports group from Slovakia and detect if genotype
ACTN3 R577X polymorphism influences sprinting ability in an
selected Slovak population. Genotypes were determined using Real
Time High resolution melting PCR method. The results were compared
with those 156 children various sports group and 150 sedentary controls.
The % distribution of R and X alleles in children was significantly
different from controls. In association part of study of 33 young soccer
players in Presov,who were 12 years old we show that there is a significant
association between the ACTN3 R577X polymorphism and 10m
sprint time in males with the 577R allele contributing to faster times in
an additive manner. The R577X polymorphism is not associated with
other power phenotypes (30m sprint and agility run, the hurdle run,
shuttle run test). Sports gene test can help predict talent from a very
early age. Genetic screening is also being used to individualise training
programs to suit a person’s genotype.
P01.02
study of public opinion about some aspects on biobank creation
and using
S. V. Buikin1 , E. Y. Bragina1 , V. V. Pogrebenkova1 , M. V. Golubenko1 , V. P.
Puzyrev1,2 ;
1State Research Institute of Medical Genetics, Tomsk, Russian Federation,
2Siberian State Medical University, Tomsk, Russian Federation.
The term “biobank” is not well known in the Russia, but there are many
collections of biological samples in some research centers (Moscow,
St.Peterburg, Tomsk, Novosibirsk, Ufa Yakutsk). The availability of
valuable biological samples and associated data, from one side, and
approval of new ethic requirements for handling biological samples,
from other side, suggest that establishment of biobanks on the basis
of these collections is attractive. Biobanks can provide high quality of
research and promote integration into research consortiums. To study
public opinion about biobank in Tomsk, we have questioned about 800
Tomsk habitants (78% of women and 22% of men). 68,5% respondents
were under 40 years. 67% of respondents had higher or specialized
secondary education, 6% had science degree. 61% of habitants
heard about biobank and its function, 84% of them note that creation
of biobank in Tomsk is advisable. Only 56% agree with storage their
biological samples in the biobank and using them in genetic studies.
59% are ready to provide additional information about their health and
79% want to know results of studies which use their samples. 59%
respondents are afraid of information leak and 46% are afraid of discrimination
by the results of their DNA study.
Thus, despite of some fear, most of respondents consider creation of
Biobank in Tomsk as useful affair. There is need in additional public
information about advantages of the biobank as well as development
of strict ethic rules.
The study was supported by Russian Foundation for Humanitarian Research,
grant No. 08-06-00514.
P01.03
the role of religious involvement, knowledge about and attitudes
towards adult genetic testing in formation of intentions-to-test
- a structural equation modeling approach
A. Botoseneanu;
School of Public Health - Univerity of Michigan, Ann Arbor, MI, United States.
Purpose: To investigate the role of knowledge, religious involvement,
previous experience with and attitudes towards genetic testing for
adult-life disease susceptibility on the formation of intentions to undergo
such testing.
Methods: Cross-sectional survey of a representative sample of 1,824
adults US adults ages 18 and over from the UNITED STATES PUBLIC
KNOWLEDGE AND ATTITUDES ABOUT GENETIC TESTING, 2000.
M-plus structural equation modelling (both confirmatory factor analysis
and path analysis) of total, direct and indirect effects of knowledge,
religious involvement, experience and attitudes on intention-to-test for
adult disease susceptibility.
Results: Of the 1,824 adults surveyed, 77% expressed willingness-totest
for curable disorders, and only 52% for incurable disorders. 17%
had some previous experience with a genetic disorder, and 8% had
previous experience with genetic testing. SEM analysis revealed the
following significant direct effects on intention to undergo testing: attitudes
(positive effect; p=0.000), knowledge (negative effect; p=0.009),
and previous experience (positive effect; p=0.034). Religious involvement
showed a significant indirect effect on intention to undergo genetic
testing, via a negative effect on attitudes (p=0.000); namely, individuals
with high religious involvement were more likely to hold more
negative attitudes towards genetic testing and to express less willingness
to obtain genetic testing. The model as proposed explains 15.2%
of the variance in the intention-to-test.
Conclusion: A majority of respondents indicate willingness to test for
adult life genetic disorders, especially for curable disorders. Our findings
underscore the need for refinement of outreach and intervention
efforts, to account for multiple influences (knowledge, experience, attitudes
and religiosity) on willingness-to-test.
P01.04
cross-cultural communication in Genetic services: Experiences
in creating a network
V. Anastasiadou1,2 , T. Delikurt1 , K. Theochari1 , A. Kotti2 , E. Spanou1 ;
1 2 Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, Archbishop
Makarios III Hospital, Nicosia, Cyprus.
The two major communities (Greek and Turkish Cypriots) in Cyprus
were separated by a border since 1974. The sharing of healthcare
services, between both communities became very difficult. Recently
efforts to bring the two communities together have been underway.
The importance of a multidisciplinary team with cultural competence
is essential for the best care of patients with rare diseases such as
genetic conditions. Good communication between health professionals,
therapists and patients within such a team is fundamental. The
multicultural composition of Cyprus created the need for a network
to establish new and expand the existing channels of communication
between health professionals. Patients/families were also invited to
share problems, experiences and hopes while contributing in building
a network for better communication and multidisciplinary care.
Attempt to create a network in the care and referral of patients, living
with or at risk of genetic/inherited conditions, in both communities in
Cyprus officially began in December 2006. At the end of 2 years, a
network of communication of 181 people (including patients, physicians,
speech therapists, scientists, psychologists, special needs specialists
and counselling students from both communities) was created.
A trilingual website and 6 trilingual leaflets on genetic conditions have
been also been created as part of our public awareness campaign.
Following a strenuous campaign, we were expecting a higher number
of participants; however it was evident that cultural difference was a
significant barrier to our efforts.
The poster will discuss the outputs of the two year project and the
experiences of the project team.