2008 Barcelona - European Society of Human Genetics

Genetic counselling, education, genetic services, and public policy
ibility, they will be noted as “unknown” .
Preliminary results (16 laws) come from 7 countries (Belgium, Hungary,
Portugal; Australia, USA, Canada and Japan): 6 are compulsory
and 10 soft laws .
Definitions of genetic testing in these documents vary significantly in
length and comprehensiveness, depending on their general purpose
and aims; jurisdiction source is also variable: general discrimination
(Belgium and Canada), genetic information and discrimination in employment
(USA), health care (Hungary), general privacy and confidentiality
(Australia), health and genetic information (Portugal) .
The expected results are an up-to-date and easy-to-search definitions
database, focusing on legislation of European and other countries,
with annotations regarding relevancy and reach of that legislation
(compulsory or only soft law; source, and to which jurisdiction(s) does
it apply; etc .) .
Then, definitions of genetic testing in European and other legislation
may be compared among countries and jurisdictions . This might be
helpful for legislators and policy makers, the various professionals involved
in genetic testing and the general public .
P09.17
What du judges need to know about human gentics? Judicial
science education in the Us
C. Skrzynia 1 , F. M. Zweig 2 , J. P. Evans 1 ;
1 University of North Carolina, Chapel Hill, NC, United States, 2 Advanced Science
and Technology Adjuducation Resource Center, Washington, DC, United
States.
The importance of genetics has grown in the past decades not only
among other biological sciences but also throughout society in general
. However knowledge about the subject lags . Efforts have been
devised to fill this gap in high schools, in medical education and in
the general public . We’d report here on judicial education programs
as conceived and produced by the Advanced Science and Technology
Adjudication Resource Center (ASTAR) in collaboration with the
University of North Carolina in Chapel Hill .
ASTAR is a congressionally mandated educational effort with the mission
of training the US judiciary in scientific matters in order to enhance
scientific knowledge in US courts. Through the use of lectures and
hands-on instruction a cadre of resource judges has been trained to
serve at their home jurisdictions as resource persons who can offer
consultation and expertise when cases involving scientific and technical
matters arise .
We present aspects of the curriculum, which range from intense “basic
science boot camps” to mock “adjudication clinics” and plenary discussions
moderated by judges and scientists. We focus specifically on human
genetics as this subject plays an increasing role in diverse court
cases . The examples include genetics of addiction, cancer genetics,
genetically engineered crops, inborn errors of metabolism and genetic
discrimination . Out educational objective is to promote case management
and settlement in controversies in which novel scientific evidence
is likely to be introduced .
P09.18
Etnicity and Genetics: a sensitive issue
N. J. Leschot1 , N. V. A. M. Knoers2 ;
1 2 Dept Clinical Genetics, Amsterdam, The Netherlands, Dept Human Genetics
RadboudUniversity Medical Centre, Nijmegen, The Netherlands.
In our multicultural society registration of ethnicity is not allowed by
law . We here present six “ethnicity issues”:in genetic counselling and
diagnostic testing, population screening programs, association studies
and pharmacogenetics, respectively .
Testing for new mutations in the BRCA-1 gene is time-consuming .
Patients with an Ashkenazi background have different mutations than
other ethnic groups and therefore, it would be advantageous to know
the ethnic background of patients to improve efficiency of mutation
analysis .
In prenatal screening for Down syndrome, background values for
Beta-hCG and PAPP-A differ between Afro-Caribbean and West-European
women .
In neonatal screening 16 diseases are tested in all 180 .000 newborns
in the Netherlands each year, including sickle cell anaemia, while only
40 .000 have an increased risk for that disorder .
Consanguineous marriages are common in people originating from
North Africa, because of social advantages . The increased risk for autosomal
recessive diseases in their offspring is mostly not known in
the future parents .
In association studies results can often not be reproduced by additional
studies . Ethnicity is an important cause .
Finally, ethnicity is an issue in pharmacogenetics, for instance in prescribing
beta-blockers for heart failure in African-Americans .It is difficult
to handle the issue of ethnicity in genetics correctly and little is
done to change that attitude . Meanwhile, this attitude may be harmful
for the patient and science in general .
P09.19
A comparison of criteria for clinical validity and utility in various
national and international frameworks
P. Javaher1 , U. Kristoffersson2 , A. Kent3 , A. Christianson4 , R. Raouf5 , C. Barreiro6
, I. Nippert7 , J. Schmidtke1 ;
1 2 Medical School of Hannover, Hannover, Germany, Lunds University, Lund,
Sweden, 3Genetic Interest Group, London, United Kingdom, 4University of the
Witwatersrand, Johannesburg, South Africa, 5Ministry of Health, Cairo, Egypt,
6 7 Hospital de Pediatría SAMIC, Buenos Aires, Argentina, Universitaetsklinikum
Muenster, Muenster, Germany.
CAPABILITY is a 3-year model project developed jointly by Unit 3
(Clinical Genetics, Community Genetics and Public Health) and Unit 6
(Education) of the Network of Excellence (EuroGentest) and by leading
experts from Argentina, Egypt 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/genomic knowledge applications into practice and
prevention and to serve as a model project for successful, sustainable
collaboration between EU research centres and centres from developing
countries .
In recent years a great deal of attention has been paid at national
and international levels, to develop policies in the field of provision of
clinical genetic testing services . The topic has been tackled by several
different national and international organisations, each taking different
approaches, depending on their primary objective . In various
frameworks different groups addressed the determination of criteria
for clinical validity and utility of genetic testing . As a preliminary outline
in the context of CAPABILITY, this review aims to present the various
frameworks and to draw a comparison of the different approaches .
P09.20
The cystic fibrosis external quality assessment scheme,
monitoring the quality of laboratory performance
S. Berwouts 1 , E. Girodon 2 , M. Stuhrmann 3 , M. Schwarz 4 , M. A. Morris 5 , A.
Corveleyn 1 , L. Desmet 1 , E. Dequeker 1 ;
1 Centre of Human Genetics, University of Leuven, Leuven, Belgium, 2 Service
de Biochimie et Génétique, Groupe hospitalier Henri Mondor-Albert Chenevier,
Créteil, France, 3 Institut für Humangenetik, Medizinische Hochschule, Hannover,
Germany, 4 Department of Medical Genetics, St Mary’s Hospital, Manchester,
United Kingdom, 5 Laboratoire de Diagnostic moléculaire, Service de
Médecine Génétique, University Hospital, Geneva, Switzerland.
Given the potential serious health consequences of genetic test results,
mechanisms should be in place to assure the quality of the tests
and the interpretation of the data .
In this regard, the International Organization for Standardization ISO
15189 (5 .6 .4) and the Organisation for Economic Co-operation and
Development (OECD) Guidelines for quality assurance in molecular
genetic testing (2 .C), contain requirements and recommendations for
laboratories to participate in external quality assessment schemes
(EQA) . Participation in EQA schemes is useful not only to the laboratory,
as a key element of its quality assurance processes, but also
as a quality indicator to monitor the improvement of laboratory performance
.
The Cystic Fibrosis (CF) Network has been providing EQA since 1996
and has performance data from more than 10 years . This study focuses
on a group of about 100 molecular genetics laboratories that participated
in the CF EQA scheme for each of the previous three years .
Reporting the correct genotype, provision of appropriate interpretation
and additional elements required by ISO 15189 such as unique
identification of the patient and sample type, are compared over these
three years . In addition, comparable cases and samples with identical
genotypes were included during the three-year period, which enabled