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

Concurrent Sessions
to elucidate the chromosome abnormality. This is a major improvement
on conventional distribution of slides or images where the inclusion of
additional test material inevitably reveals the answer. Participants can
submit reports in Czech, English, French, Finnish, German, Italian or
Spanish. A prenatal and postnatal pilot EQA was completed by 19 laboratories
from 18 countries. Seven laboratories had never participated
in EQA before. The reports reflected the variation in interpreting and
reporting cytogenetic results within Europe. Some poor performance
was identified.
The pilot will be expanded to allow more laboratories to participate
next year. Participation in EQA will improve the provision of genetic
services for the benefit of the patient.
C79. Regulations and practices of genetic counselling in 38
European countries
E. Rantanen 1 , M. Hietala 1 , U. Kristoffersson 2 , I. Nippert 3 , J. Schmidtke 4 , J. Sequeiros
5 , H. Kääriäinen 1 ;
1 Department of Medical Genetics, University of Turku, Turku, Finland, 2 Department
of Clinical Genetics, University Hospital of Lund, Lund, Sweden, 3 Institute
of Human Genetics, University of Münster, Münster, Germany, 4 Institute of Human
Genetics, Hannover Medical School, Hannover, Germany, 5 Department of
Human Genetics, University of Porto, Porto, Portugal.
Background: As genetic tests are increasingly offered across the borders
of the European countries, EuroGentest, a NoE aiming at improving
the quality of testing, also aims at harmonizing the quality of
genetic counselling.
Objective: To review what kinds of regulations and practices related to
genetic counselling there are in different European countries.
Methods: An electronic survey was performed among the National Societies
of Human Genetics in 29 countries and contact persons in the
9 countries where a Society could not be traced. The president or the
board of the society, or a selected expert provided the answers to the
questions about existing legislation, guidelines and generally applied
practices of genetic counselling. The respondents also estimated how
well genetic counselling is organized in their country and what future
changes can be predicted.
Results: There is legislation related to counselling in 13 and guidelines
in 21 countries. It was hoped that the amount of regulations
would increase. The topics that were most often covered in legislation
and guidelines, and also considered as generally applied practices,
were counselling in the context of prenatal testing, informed consent,
confidentiality, training of the person who performs counselling, and
non-directiveness. The seldom-covered topics were counselling in the
context of predisposition testing for multifactorial diseases, duty to recontact
the patient afterwards, and counselling persons from ethnic
minorities. Of the respondents, 70 % considered that national regulations
are necessary, and 90 % thought that some improvements are
needed in the organization of genetic counselling in their country.
C80. Attitudes regarding genetic testing in minors. A survey of
European clinical geneticists
P. Borry, T. Goffin, H. Nys, K. Dierickx;
Centre for Biomedical Ethics and Law, KULEUVEN, Leuven, Belgium.
Background Various professional guidelines have discussed genetic
testing in minors and provided recommendations on the topic. As we
have described earlier (Borry et al. 2005, 2006) professional guidelines
have shown to disagree on a various issues. Regarding carrier
testing guidelines varied regarding (a) the role of genetic services in
ensuring that children are informed about their carrier status and associated
risks when they are older; (b) exceptions to the general rule
of withholding or deferring carrier testing; (c) the communication of
incidentally discovered carrier status. In the case of predictive and presymptomatic
genetic testing ambiguity exists for childhood-onset disorders
for which preventive or therapeutic measures are not available
and for the timing of testing for childhood-onset disorders.
Objective The aim of our study was to gather information from clinical
geneticists about their practices and attitudes with regard to carrier
testing in minors.
Method 316 medically qualified specialists in genetics who have offered
genetic counseling to patients in the last year were asked to
complete a survey of items assessing their attitudes and practices
regarding genetic testing in minors. The data collection took place between
October 2006 and March 2007. All respondents completed a
28-item questionnaire. The measures were based on ethical issues
related to genetic testing in minors identified in the literature and from
previous research.
Results At this moment we have a response rate of 60%. We just started
a preliminary statistical analysis of the data using non-parametric
statistics. (22 February 2007) Results are planned in March and April.
C81. An operational checklist for evaluation of molecular genetic
tests destined to clinical use: development and description.
F. Rousseau 1,2 , C. Lindsay 3 , M. Charland 4 , J. Bergeron 5 , I. Blanqueart 6 , R.
Delage 7 , B. M. Gilfix 8 , M. Miron 9 , G. A. Mitchell 10 , L. Oligny 11 ;
1 CanGeneTest consortium & Université Laval, Quebec, PQ, Canada, 2 Centre
de recherche du Centre hospitalier universitaire de Québec, Québec, PQ, Canada,
3 CanGeneTest consortium & CRCHUQ, Quebec, PQ, Canada, 4 CanGeneTest
consortium, Quebec, PQ, Canada, 5 Réseau de médecine génétique appliquée
et CRCHUQ, Québec, PQ, Canada, 6 CanGeneTest consortium & Agence
d’Évaluation des technologies et modes d’intervention en santé du Québec,
Montréal, PQ, Canada, 7 Centre de recherche du Centre hospitalier universitaire
affilié de Québec & Université Laval, Québec, PQ, Canada, 8 McGill University
Hospital Centre, Montréal, Montréal, PQ, Canada, 9 Centre Hospitalier de la
Sagamie, Saguenay, PQ, Canada, 10 Réseau de médecine génétique appliquée
& Centre de recherche de l’Hopital Ste-Justine, Montréal, PQ, Canada, 11 Centre
de recherche de l’Hôpital Ste-Justine, Montréal, PQ, Canada.
Background: The completion of the Human Genome Project has increased
the pace of genetic markers of disease. Despite tremendous
fundamental research efforts, clinical applications are still lagging behind
expectations, partly due to the lack of effective tools to summarize
published data relative to the clinical assessment of new diagnostic
molecular tests.
Methods: We used a collaborative process using published tools and
an expert panel to develop a detailed checklist of the evidence that
needs be collected or produced to evaluate the potential usefulness of
a new molecular diagnostic test in medicine.
Results: We present a checklist that allows 1)stakeholders to collect
data related to a given molecular test and improve their decision making
process and 2)researchers to summarize known evidence and direct
research efforts towards studies to fill knowledge gaps. This checklist
comprises 29 clearly defined items, grouped into 10 categories, including
an overview of disease epidemiology and genetics, available diagnostic
tools and their analytical and clinical performances, availability
of quality control programs, methodological and clinical best practice
guidelines, clinical utility, impacts on health care, psycho-social, ethical
and legal aspects of the analysis. It also comprises a summary of the
evidence available and the identification of research priorities to fill the
knowledge gaps relative to the test.
Interpretation: This systematic checklist is intended to streamline collection
of the available evidence to appraise the potential for clinical
application of new molecualr diagnostic tests and help prioritize research
to complete the evidence base relative to the clinical implementation
of molecular tests.
C82. Public Perception of Genetic Medicine - A survey of
attitudes in the United Kingdom
P. Finegold1 , J. Ayres1 , M. Boon2 , M. J. Leech1 , K. Mathieson1 , H. R. Middleton-
Price1 , S. Nicholls1 , D. Donnai1 ;
1 2 North West Genetics Knowledge Park, Manchester, United Kingdom, ICM,
London, United Kingdom.
The UK’s North West Genetics Knowledge Park (Nowgen) sets out
as one of its aims to act as a forum for education, engagement and
dialogue around human genetics that will empower people to make decisions
about health management. In August 2006, Nowgen commissioned
a telephone interview based survey amongst a sample of 1006
subjects from around the United Kingdom. The survey questions were
designed to establish public perception of the role genetics plays in
health, how genetic medicine is seen in relation to genetic modification
of food, the level of acceptability amongst the population to undergo
a genetic test for health reasons and to gauge public expectations in
relation to future genetics and healthcare.
The research carried out by polling organisation ICM is broken down
into standard demographic categories of age, gender, social class and
region, with the intention of providing an evidence base for Nowgen’s
continuing public engagement work.
The survey results indicated that just over 70 per cent of the popula-