2009 Vienna - European Society of Human Genetics

Genetic counseling Genetics education, Genetic services, and Public policy
regarding future recurrence risks and options for prenatal diagnosis.
Although there is literature outlining how useful external examination
of a fetus with congenital abnormality can be, there is little available
to describe how this should be done and what the examination findings
may indicate. The aim of this tool is to provide such guidance in a
modern, online format.
It has been developed within the DYSCERNE project, an EU funded
project which has established a Europe-wide network of centres of
expertise in dysmorphology. Further information about DYSCERNE
can be found on the website www.dyscerne.org which serves as the
access point to registered users for this educational tool.
The format is a short PowerPoint presentation which can be followed
sequentially, or readers can navigate using links on the contents page
to specific sections of interest. There are links to downloadable documents
and useful proformas at designated points in the presentation
which provide practical assistance with carrying out the fetal examination
as well as detailed reference information.
This is the first in a series of tools created by the DYSCERNE project
which aim to guide and educate clinicians throughout Europe on key
aspects of clinical dysmorphology.
P01.10
DYscERNE: Developing clinical management guidelines for
dysmorphic conditions
P. M. Griffiths1 , K. Strong1 , S. Gardner1 , R. Day1 , C. Harrison1 , D. Donnai1 , B.
Kerr1 , K. Metcalfe1 , H. Brunner2 , B. Dallapiccola3 , K. Devriendt4 , M. Krajewska-
Walasek5 , N. Philip6 , J. Clayton-Smith1 ;
1 2 University of Manchester, Manchester, United Kingdom, Universitair Medisch
Centrum Sint Radboud, Nijmegen, The Netherlands, 3Instituto Mendel, San
Giovanni Rotondo, Italy, 4Katholieke Universiteit Leuven, Leuven, Belgium,
5 6 Instytut Pomnik-Centrum Zdrowia Dziecka, Warsaw, Poland, Assistance Publique
- Hospitaux De Marseille, Marseille, France.
Delivering high quality genetic services requires healthcare professionals
to develop evidence based guidelines which are subject to
validation and quality checks. However, in clinical genetics, there is
a paucity of guidelines, particularly for rarer conditions. Additionally,
many guidelines produced have not used a robust methodology.
A main aim of the DYSCERNE Network of Centres of Expertise in dysmorphology
(www.dyscerne.org) is to develop management guidelines
for dysmorphic conditions. A scoping exercise identified, Angelman,
Noonan, Williams and Kabuki Syndromes as conditions that would
benefit from guidelines. Guidelines will include; criteria for diagnosis,
information on clinical management at different life stages, and when
specialist referral is needed.
DYSCERNE’s guideline development methodology utilises a modified
SIGN (Scottish Intercollegiate Guidelines Network) methodology.
SIGN’s methodology involves systematic review and grading of
published evidence, and uses multidisciplinary groups of clinicians to
achieve expert consensus. This validated and internationally accepted
methodology assumes a rich evidence base and has previously been
used to develop guidelines for a range of conditions including cancers
with strong genetic components. However, for rarer diseases, the evidence
base is very small or non-existent, and we have adapted the
process so more emphasis is placed on expert opinion and consensus,
whilst maintaining systematic rigor and transparency.
Our programme of guideline development is ongoing and subject to
continuous appraisal so modifications can be incorporated where necessary.
The development protocol will be available on our website and
it is hoped that others will be encouraged to utilise this approach to
develop much needed guidelines for rare diseases.
P01.11
Role play as teaching tool for communication skills in prenatal
genetics
A. Kondo, Y. Nishijima, Y. Onuki, H. Yokoyama, M. Mizoguchi, S. Izumi;
Tokai University School of Medicine, Isehara, Japan.
It is well known that role play is very effective learning tool to obtain
communication skill. In Japan, our medical students learn communication
and medical interview in 4 th and 5 th year of 6 years education.
In this study, we assessed the roleplays by 5 th year student with the
situation of prenatal settings to see how they could apply their skills
to rather complicated cases. We made a lecture about prenatal tests
and discussed with students beforehand and asked them to play as a
doctor, a nurse and a patient. This tutorial normally takes place for 2
or 3 students each time. We recorded all conversation with shorthand
to look back easily just after they have done. We also discussed their
skills and feelings afterwards. Role play time was about 35 minutes in
average.
The result shows students are very flexible to put their knowledge into
practical use in different situations and made supportive attitude. However
it seemed difficult to choose less harmful words to explain. Interestingly,
they pretty much included what they think interesting such as
new genetics techniques rather than basic genetics to explain genetic
conditions. In addition, it was easier than exam to see what and how
they understand through observing how they explain each things and
it was good for teaching staffs to review themselves. Roleplay in small
group learning is good tool for teaching communication skills and difficult
issues in clinical settings. It also was good opportunity to have
active discussion in rather shy students.
P01.12
Nowgen’s new Darwin-inspired molecular genetic workshop for
school students
L. E. Holmes1,2 , K. Mathieson1,2 , P. Finegold1,2 , H. R. Middleton-Price1,2 , D.
Donnai1,2 ;
1Nowgen, A Centre for Genetics in Healthcare, Manchester, United Kingdom,
2The University of Manchester, Manchester, United Kingdom.
Nowgen works closely with students and teachers to ensure that the
next generation appreciate the scientific, social and ethical issues associated
with genetics. One part of this work is our programme for
post-16 biology students. This year, to celebrate Charles Darwin’s
200th birthday, Nowgen has been commissioned by the Wellcome
Trust to develop and deliver a new molecular genetics practical workshop
exploring human evolution.
This project has enabled Nowgen to push the boundaries of A-level
practical work, serving as an exemplar to the scientific education community.
The practical investigates the students’ own genotypes at one
variable SNP in the TAS2R38 bitter taste receptor gene. Further bioinformatics
work investigates the same gene in chimpanzees, to show
that the two species have undergone convergent evolution, the acquisition
of the same trait via independent biological processes.
During the one-day workshop students determine their bitter-tasting
phenotype, extract their own DNA, set up PCR and restriction digest
reactions, and run their results on an agarose gel. The results, viewed
instantly with fluorescent DNA stain, provide information about their
bitter-tasting genotype, leading to discussions regarding the correlation
between phenotype and genotype and the level of determinism
of our genes.
Our current A-level workshop is highly acclaimed by teachers, and
heavily subscribed. Building on this success, Nowgen is delivering 75
Darwin-inspired workshops to 1875 students throughout 2009 - 2010.
The practical will also be run in two other science centres in the UK,
with a national impact on over 5000 students.
P01.13
Ethical issues and subsequent governance in the GEN2PHEN
project
A. Cambon Thomsen1 , A. Pigeon1 , E. Rial-Sebbag1 , P. A. Gourraud1 , M.
Thomsen1 , &. GEN2PHEN consortium2 ;
1 2 Inserm, U558 & University of Toulouse, Toulouse, France, Department of
Genetics, University of Leicester, Leicester, United Kingdom.
The GEN2PHEN project aims to unify human and model organism
genetic variation databases towards increasingly holistic views into
Genotype-To-Phenotype (G2P) data, and to link this system into other
biomedical knowledge sources via genome browser functionality.
It involves participants from 14 countries. The regulatory and ethical
framework was analysed for the 3 main levels addressed in the project:
Getting data in; Data storage & infrastructure ; Getting data out.
The work on ethical issues involved also examination by questionnaire
plus interview of the ethical issues command by project participants,
leading to the production of a grid of issues that should be applied to
any set of data entering the G2P system or emerging from it. The main
ethical issues examined were initial informed consent content in order
to allow GEN2PHEN to be used, appropriate feedback to individuals
and communities regarding results, anonymization check, manage-