European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Genetic counselling, education, genetic services, and public policy
P1329. Glucose metabolism, lipid profile and inflammatory
markers in healthy subjects in relation to family history of type 2
diabetes mellitus
E. Kurvinen1,2 , K. Aasvee2 ;
1 2 Tallinn Children`s Hospital, Tallinn, Estonia, National Institute for Health Development,
Tallinn, Estonia.
Population studies have shown that family history to type 2 diabetes
mellitus (T2DM) is a risk factor for developing the disease, but also
for T2DM predictors, including anthropometric and metabolic modifications.
Our study aimed to compare anthropometric data, lipid and glucose
metabolism and inflammatory factors in healthy subjects with positive
family history [Fam(+)] and negative family history [Fam(-)] of T2DM.
Subjects and Methods. A total of 139 healthy subjects were studied,
the subjects whose first degree relatives suffered from T2DM were
compared with those without T2DM among close relatives.
Weight, height, waist and hip circumference were determined, body
mass index and waist-to-hip ratio were calculated. Fasting serum glucose
and insulin were measured and used for calculation of insulin
resistance index by homeostasis model assessment (HOMA IR). Serum
TC, TG and HDLC levels were determined enzymatically, apolipoproteins
A-I and B by Laurell’s electrophoresis, C-reactive protein
by a highly sensitive immunoprecipitation test and fibrinogen by the
method of Clauss.
Results. Anthropometrical data as well as mean values of lipoprotein
parameters, fasting serum glucose, insulin, HOMA IR, C-reactive protein
and fibrinogen did not differ between the groups of positive vs.
negative family history to T2DM. Conclusion. Positive family history of
T2DM was not associated with impaired glucose and lipid metabolism
in our cohort of healthy subjects.
P1330. Offering carrier screening for fragile X syndrome to nonpregnant
women - a pilot study
S. A. Metcalfe 1 , A. Archibald 1 , J. Cohen 2 , V. Collins 3 , A. Henry 3 , A. Jaques 3 , K.
McNamee 4 , L. Sheffield 1,5 , H. Slater 6 , S. Wake 5 ;
1 Murdoch Childrens Research Institute and Dept Paediatrics, University of
Melbourne, Melbourne, Australia, 2 Fragile X Alliance, Melbourne, Australia,
3 Murdoch Childrens Research Institute, Melbourne, Australia, 4 Family Planning
Victoria, Melbourne, Australia, 5 Genetic Health Services Victoria, Melbourne,
Australia, 6 Murdoch Childrens Research Institute and Victorian Clinical Genetics
Services, Melbourne, Australia.
Population-based carrier testing for fragile X syndrome (FXS) remains
controversial despite fulfilling many of the WHO criteria. Health professionals’
concerns relate to perceived difficulties in community understanding
of the complexities of this condition.
To inform policy around genetic screening, we conducted a threephase
pilot study to assess acceptability and feasibility of offering FXS
carrier screening to non-pregnant women in an Australian family planning
clinic.
In Phase 1, clinic staff and female patients attended an FXS information
session and participated in focus groups. Their understanding,
views, interest and concerns about offering FXS carrier screening were
discussed. Overall, women and staff were positive towards screening.
These qualitative data informed production of a brochure, two questionnaires
and testing protocols, which underwent validation. Questionnaires
included demographics, awareness and knowledge of FXS,
attitudes towards carrier screening, decision-making, and anxiety. In
Phase 2, larger number of women were recruited, completed a questionnaire,
and were also offered FXS screening. The second questionnaire
was completed one month later. A small number of women who
had completed both questionnaires took part in follow-up interviews
(Phase 3) about their experiences in participation
Of the 338 women recruited, 96% completed Q1, 54% completed Q2,
to date, and 30 have been interviewed. Of the 20% (n=63) of women
who were tested, three grey-zones and one pre-mutation were found.
Preliminary analysis indicates that women were overwhelmingly in favour
of the availability of FXS screening to all women, although fewer
had screening for a variety of reasons. Women’s understanding of FXS
was reasonably good.
P1331. From legislation to societal learning. A new policy
paradigm for genetics and insurance.
I. Van Hoyweghen, K. Horstman, R. Vos;
Health Philosophy and Ethics, University of Maastricht, The Netherlands.
Over the past years, one of the most contentious topics in policy debates
on genetics has been the use of genetic testing in insurance. In
the rush to confront concerns about potential abuses of genetic information
in insurance, most countries throughout Europe have enacted
genetics-specific legislation while the Genetic Information Nondiscrimination
Act (GINA) is currently pending in the US Congress. In this
presentation we want to reflect on the adequacy of genetics-specific
legislation. We will give two main arguments why we consider this
approach not to be viable in the long run. First, these laws reflect a
“genetic exceptionalism”, overemphasizing the role of genes and enhancing
the reduction of our identity and life chances to genes. New
developments in genomics therefore do not fit legal concepts. This
means that there is a growing gap between legal relatively stable definitions
and dynamic genomics practice. Secondly, genetics-specific
legislation creates some unintended effects. By giving exclusive legal
protection to the group of genetic risks, other non-genetic risk groups
are unintendedly being under-protected. Given these drawbacks, we
argue that it is time for a new policy paradigm, which stresses investing
in social learning processes more than in introducing defensive legal
walls. While genetics-specific legislation reifies a momentary relation
between science and society, a social learning approach enables more
continuous interaction between science and society. Just as genomics
is enabling medicine to take a more prospective approach, policy making
will similarly need to experiment with the genome sciences as they
affect science, health and society.
P1332. Exploring of medical staffs’ attitudes in genetic services
provided to international spouses in Taiwan
S. J. Lin, M. R. Wang, M. C. Huang, Y. H. Wang;
National Cheng Kung University, Tainan, Taiwan.
Global migration have challenge the health services in Taiwan. In recent
3 years, every one out of five newly married couples are international
marriage. With this increased ethnic diversity, health professionals
require more culturally competent approach especially in genetic
counseling. The purpose of this study was to explore attitudes and
needs among medical staffs who provide reproductive care and genetic
services to international spouses.
In this survey, an assessment checklist with 5 scaled score consisted
of 18 questions related to cultural competent care was used in the
questionnaire. Of the 470 participants, 374(79.6%) responded. We
found that (1) Lack of language appropriate information materials: For
example, 90.2% staffs agreed that education materials displayed had
to reflect cultural backgrounds of counselees; however, only 34% complied
in practice. (2) In direct communication styles: 93.6% subjects
considered themselves as unable to communicate directly with international
spouse due to limited time during clinical encounter. (3) Stereotype
found in attitudes: For example, 81.5% participants concerned
that international spouses could not make their own reproductive decisions
and had difficulties in caring of their children.
Conclusion: We found that there exist gap between concepts and
practice during encounter with international spouses. Health professionals
need to improve cultural competency to deliver appropriate
trans-cultural genetic services.
P1333. Improving communication skills in genetic counseling
- simulation based national project
M. Berkenstadt 1,2 , H. Bet-Or 2 , A. Harari-Shacham 2 , R. Nissani 2 , S. Kohan 3 , Y.
Yaron 3 , D. Lev 3 , H. Berkenstadt 4 , A. Ziv 4 , B. Goldman 1 ;
1 Danek Gertner Institute of Human Genetics, Ramat Gan, Israel, 2 The Israel
Society of Genetic Counselours, Ramat Gan, Israel, 3 The Israeli Society of
Medical Genetics, Ramat Gan, Israel, 4 The Israel Center for Medical Simulation,
Ramat Gan, Israel.
Background: Simulated patients (SPs) using play rolling actors are
widely used for training and evaluation of health care professionals. In
this study SPs based course aiming to improve communication skills
in genetic counseling was developed and validated.
Methods: Based on authentic clinical situations rising important counseling
dilemmas 8 SPs based scenarios were developed. Each scenario
included - description of the clinical situation and detailed script
2