2008 Barcelona - European Society of Human Genetics

Genetic counselling, education, genetic services, and public policy
netic influences on illness, and recognize and manage more effectively
the most common genetic problems, with improving identification and
description of children affected by birth defects .
Another challenge is facilitating the creation of support groups of rare
diseases at a national level, demonstrating the needs of patients and
groups; implementing access to the media, policymakers and the health
systems . We struggle for the connection and interchange through an
Ibero-American network of these alliances in each country .
Chilean population is 15 million, infant mortality 8 per 1,000 live births,
congenital malformations the second leading cause (33 .6%) . Abortion
is prohibited by law .
P09.30
Estimation of patient’s understanding of genetic information
received at genetic counselling. Results of pilot study.
I. O. Sadelov1 , L. Y. Ivanova2 , I. V. Zhuravleva2 , V. L. Izhevskaya1 , E. K. Ginter1 ;
1 2 Research centre for medical genetics, Moscow, Russian Federation, Institute
of sociology, Moscow, Russian Federation.
The pilot study of the 71 families with hereditary disease in a child
or in one of spouses was carried out . It has been shown, that about
72% of respondents (51/71) have completely understood the genetic
information . In group of respondents with low (to 5%) repeated genetic
risk correctly named value and category of risk 83% and 63%
accordingly . The appreciable part of respondents in this group (36%)
has overestimated the genetic risk . About 70% of respondents with
high repeated risk could correctly specify the value, and about 75% of
them - a category of risk; 24% of them underestimated the risk . The
full satisfaction with the results of consultation was expressed by 76
% (54/71) of respondents . A rate of coincidence of expectations of a
family before consultation and the results of consultation was estimated
. The respondent’s satisfaction with the results of consultation was
higher if their expectations were justified at least partially. This factor
didn’t influence the understanding of the information
P09.31
Capacity building for the transfer of genetic/genomic knowledge
into practice and prevention: the cAPABiLitY international
collaborative network
I. Nippert 1 , U. Kristoffersson 2 , J. Schmidtke 3 , A. Kent 4 , A. Christianson 5 , R.
Raouf 6 , C. Barreiro 7 ;
1 Universitaetsklinikum Muenster, Muenster, Germany, 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 Hospital de
Pediatría SAMIC, Buenos Aires, Argentina.
The number of genetic tests is growing each year and increasing
knowledge about gene-disease associations will lead to new opportunities
to apply genetic/genomic knowledge in practice and prevention .
Before genetic tests are introduced into general practice the benefits of
their use must be evaluated . Worldwide, health care systems are facing
the same challenges: 1) The need to develop an evidence-based
evaluation process for genetic tests or other applications of genomic
knowledge in transition from research into practice . 2) The need for
capacity building to enable health care systems to make effective use
of genetic/genomic applications with proven clinical utility .
CAPABILITY is a 3-year model project developed by the Network of
Excellence: Genetic Testing in Europe - Network for test development,
harmonization, validation and standardization of services (EuroGentest)
and by leading experts from: Argentina, Egypt and South Africa,
the latter being currently engaged in major development projects to
integrate genetic services in primary care and prevention in their countries
.
CAPABILITY will:
- develop an analytic framework for evidence-based genetic test evaluation,
- identify priorities for capacity building by a systematic needs assessment
survey and
- validate the project’s approach by means of demonstration projects in
Argentina, Egypt, Germany and South Africa .
CAPABILITY’s overall objectives are to contribute to the efforts to
establish and sustain a worldwide harmonisation process for quality
standards for the integration of genetic test applications into practice
and prevention .
P09.32
the lay people attitude towards predictive genetic testing in
Russia
V. V. Pogrebenkova, O. A. Makeeva, V. P. Puzyrev;
Research Institute of Medical Genetics, Tomsk, Russian Federation.
1400 Russian adults aged from 20 to 65 (73% women) were investigated
through a specially developed questionnaire about their base
knowledge and attitude towards predictive genetic testing . 66% of
respondents indicated they would prefer to know about their future
diseases; the share of respondents expressing the positive attitude towards
predictive testing increased (up to 85%)when people were told
that the necessary prophylaxis will be in principal available . 89% of
respondents mentioned they are likely change their life style (give up
with pernicious habits, keep to a diet or take medication) if they would
be diagnosed as being at a high risk of a disease; the proportion of
women was higher if compared to men(91%vs 81) .
Among the main reasons which can force people to undergo predictive
genetic testing for common diseases the people’s concerns about their
health status (39%)and practitioner’s recommendation (23%)have
been denoted; at the same time the more detailed information about
genetic testing and curiosity have been accounting for 18 and 16% respectively,
while 4% of respondents would follow the family member’s
or friend’s advice .
When people were asked to range the particular common traits to
which genetic testing could be mainly useful, they indicated oncological
(17%),cardiovascular diseases (16%)and diabetes mellitus
(11%)as the most advisable .
In general, the overestimation of expectations related to genetic testing
for disease predisposition is obvious in lay people in Russia . The
positive attitude for predictive genetic testing did not depend from the
level of education, while the awareness about emerging genetic technologies
did .
P09.33
Risky genes, risky trust? Framing risk through trust and
credibility markers in direct-to-consumer online genetic tests
E. F. Einsiedel, R. M. Geransar;
University of Calgary, Calgary, AB, Canada.
This study looks at internet direct-to-consumer (DTC) advertising for
genetic testing to assess the ways in which genetic risk information is
framed to consumers, and examine the strategies employed to establish
trust and credibility in this context. Representations of benefits and
risks on 22 company websites were coded and themes were developed
across advertisements for tests across a cross-section of health
conditions . Two strategies were most frequently used by companies
to frame risk: underlining the basis of the condition, often with genetic
determinist and essentialist undertones, and stressing the commonality
of the conditions . Major credibility and trust markers employed
included indications of organizational professional accreditation and
expertise (often through credentials of company executives and staff) .
The DTC ads examined provided limited, vague or inaccurate information
about disease etiology and promoted tests for use in broader
at-risk populations than is normally indicated in clinical practice . Implications
of these trends for Canadian consumers and clinicians and for
public policy are discussed .
P09.34
information on genetic testing in Europe: new services from
Orphanet
V. Lanneau 1 , I. Caron 1 , A. Rath 1 , M. Georget 1 , B. Urbero 1 , L. Desmet 2,3 , A.
Corveleyn 2,3 , N. Nagels 2,3 , M. A. Morris 2,4 , E. Dequeker 2,3 , S. Aymé 1,2 ;
1 Orphanet, Paris, France, 2 EuroGentest, Leuven, Belgium, 3 Department for
Human Genetics, University of Leuven, Leuven, Belgium, 4 Service of Genetic
Medicine, Geneva University Hospital, Geneva, Switzerland.
Genetic tests are offered internationally, through both public and private
sectors . Doctors and biologists need to know which tests are
available, where they are offered and whether the identified laboratories
meet quality standards .
To fulfil this need, ten years ago, www.orpha.net started to set up a
database of medical laboratories in the field of rare diseases. The data
collection covered one country in 1997, 15 in 2003, 26 in 2006 and
reaches 36 countries in 2008 . This effort was possible thanks to collaboration
with EuroGentest NoE and resources from the EC DG for