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

Genetic counselling, education, genetic services, and public policy
cies. Of the 50 mothers, 21 (42%) would terminate a pregnancy if
Down syndrome was detected, 26 (52%) would not, and 3 (6%) were
unsure what they would have done if faced with this decision. Of the
Caucasian women, 40% (4) would opt for termination of pregnancy,
40% (4) would not and 20% (2) were unsure. Of the African and Asian
women, 52.8% (19) and 75% (3) respectively would not terminate an
affected fetus. The information gained has helped provide a more effective
genetic counselling service.
P1325. DYSCERNE - A European Network of Centres of
Reference for Dysmorphology
J. Clayton-Smith 1 , P. M. Griffiths 1,2 , D. Donnai 1,2 , H. Brunner 3 , B. Dallapiccola 4 ,
K. Devriendt 5 , M. Krajewska-Walasek 6 , N. Philip 7 , J. Taylor 8,2 , K. Strong 1,2 , B.
Kerr 1 ;
1 Central Manchester and Manchester Children’s Hospitals NHS Trust, Manchester,
United Kingdom, 2 Nowgen, Manchester, United Kingdom, 3 Universitair
Medisch Centrum Sint Radboud, Nijmegen, The Netherlands, 4 Istituto Mendel,
San Giovanni Rotondo, Italy, 5 Katholieke Universiteit Leuven, Leuven, Belgium,
6 Instytut Pomnik-Centrum Zdrowia Dziecka, Warsaw, Poland, 7 Assistance Publique
- Hospitaux de Marseille, Marseille, France, 8 University of Manchester,
Manchester, United Kingdom.
Over 2,500 rare and difficult to diagnose conditions presenting with
patterns of birth defects have been identified. The rarity of these dysmorphic
conditions means that even in Centres of Reference, experience
may be limited and a diagnosis might be delayed or not made at
all. Making a correct diagnosis is the cornerstone of patient management,
enabling clinicians to locate other patients with the same condition,
share clinical experience, and increase individual and collective
knowledge about rare conditions. For patients and their families, the
importance of having a diagnosis cannot be over emphasised. It can
help them come to terms with the condition, reassure them that they
are receiving appropriate care, and may facilitate making contact with
other affected individuals and families for support and advice.
DYSCERNE aims to raise current standards for the diagnosis, management,
and information dissemination of rare dysmorphic syndromes.
The Network is funded by the European Commission, Directorate
General for Health and Consumer Protection, and comprises six
designated Centres of Reference for Dysmorphology (UK, Belgium,
France, Italy, The Netherlands and Poland). The lead partner, Manchester
University, UK, will be the coordinating and managing centre
for the Network.
To facilitate the project aims, a web-based electronic dysmorphology
diagnostic system will be established, enabling clinicians to submit difficult
to diagnose cases electronically for expert review. Project members
will also develop guidelines for selected multi-system disorders
which will be piloted and disseminated widely throughout the clinical
genetics community. DYSCERNE will also serve as a demonstration
project for future EU Networks.
P1326. Training non-MD medical geneticists: suggestions from
Lithuania
J. Kasnauskiene, V. Kučinskas, D. Steponavičiūtė;
Vilnius University, Vilnius, Lithuania.
Translation of the achievements in human genetics and genomics into
clinical practice results in increasing introduction of new diagnostic genetic
tests and growing demand for highly qualified non-MD specialists
(medical geneticists) performing such tests, interpreting and communicating
their results. Nevertheless, adequate system for their training is
still absent in a number of EU countries including Lithuania.
A three stage system for training non-MD clinical/laboratory geneticists
is under development in Lithuania (introduction is expected in 2008).
1 st stage: undergraduate (bachelor) studies programme ensuring background
education. 2 nd stage: graduate (master) studies programme
ensuring basic knowledge in the disciplines essential for clinical/laboratory
geneticists (molecular genetics, cytogenetics, biochemical genetics,
genetic counselling, bioinformatics). 3 rd stage: post-graduate
studies programme (comparable to a residency studies programme
for medical specialties) ensuring a high level knowledge and expertise
in one of the basic specialisations: molecular genetics, cytogenetics,
or biochemical genetics. Specialists graduating from the 3 rd stage studies
programme will be able to apply for certification by the Lithuanian
Society of Human Genetics.
A system for non-MD medical geneticists’ certification on the basis
of a EU-level exam (e.g., similar to that already in action for laboratory
chemists) is necessary. Such certification should enable including
the non-MD medical geneticist into the EU Registry of clinical/laboratory
geneticists (more exactly, a special section corresponding to
the above-stated specialisation). Registered specialist should be able
to work in any clinical/medical genetics laboratory across EU. At the
same time EU-level certification would be an official document confirming
specialist’s qualification in his/her native country.
P1327. Genetic Education: Adapting Strategies for Secondary
Schools
R. P. Leite, P. Botelho, C. Diniz, M. Souto, B. Carvalho, E. Ribeiro;
Dept. Genetics, Centro Hospitalar de Vila Real-Peso da Régua, E.P.E, Vila
Real, Portugal.
The Genetics Service participates in an initiative of the National Agency
for the Scientific Culture, witch allows Secondary School students
to do an internship integrated in the assistance work of a Health Service,
where the study of the genetic diseases and prenatal diagnosis
allow them to apply and to deepen the knowledge acquired in school,
qualifying them for the active life, not neglecting the exercise of the
citizenship.
The name of this internship project is „Genetics Seen by the Young
People“. It has the duration of 1 week and was already attended by
66 students.
This internship is essentially practical but is strongly based in the genetic
principles lectured in Biology Course. 80% of internship time
is spent in laboratorial activities and the remaining 20% is spent in
the Prenatal Diagnosis, Dismorphology and Preconception consultation,
always with previous authorization by the patients. Then, all the
students that worked as interns in the service since 2001 reply to an
inquiry that had several goals, namely the importance of the internship
in the professional choice. The students unanimously affirmed
that this internship had enormous importance in the acquisition of new
knowledge and in the opening of other work perspectives that they
only imagined possible with a Medical Degree.
Our conclusion is positive and encouraging, and it suggests that a
strong interconnection between the school and the business world
can be the instrument that lacks, increasing the satisfaction and the
self-esteem of the students, reducing deviant behaviours and school
abandonment.
P1328. Methodology analysing decision making for
multidisciplinary staff before antenatal diagnosis.
P. Malzac 1,2 , S. Sigaudy 2,3 , R. Bernard 2 , N. Philip 2,3 , M. Gamerre 3 , L. Despinoy 1 ,
P. Le Coz 1 ;
1 Espace Ethique Méditerranéen, Marseille, France, 2 Département de génétique
médicale, Marseille, France, 3 Centre de diagnostic prénatal, Marseille, France.
We introduce a methodology analysing decision making in clinical ethics.
It enables to assess the various reasons health professionnals refer
to, without being clearly conscious of it, when a difficult decision has
to be made.
The issue is :
- To define the ethical aspect in the decision through worldwide acknowledged
principles: autonomy, beneficience and non-maleficience
( 1)
- To work on the basic idea that emotions have to be used which we
consider crucial in order to become aware of the ethical aspect of the
decision
Thus we believe such worldwide valued concepts become clear to
health professionnals through some emotional experiences ( 2) . We are
speaking here of respect, compassion and fear. Practitioners discover
through these emotions how much they value these principles.
Feeling of respect reveals how much they value the principle of autonomy,
feeling of compassion how much they value the principle of
beneficience and feeling of fear the principle of non-maleficience.
To make our point clear, we will show how our methodology works
in a difficult decision making situation : a request for termination of
pregnancy after a Turner syndrome chromosomal anomality has been
revealed on the fetal caryotype.
1. T.L Beauchamp et J. Childress. Principles of Biomedical Ethics, Oxford
University Press, New-York/Oxford, 1994.
2. Livet P., Emotions et rationalité morale, PUF, coll. « Sociologie »,
Paris, 2002.
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