2008 Barcelona - European Society of Human Genetics

Genetic counselling, education, genetic services, and public policy 0
Formulation of quality standards includes those for genetic counselling
associated with genetic testing, and is the focus of this study .
Genetic Counselling Guidelines related to Genetic Testing: The recommendations
for genetic counselling in connection with different testing
situations aim to establish minimal criteria for genetic counselling and
to improve patient’s understanding of the results and consequences of
genetic testing . These guidelines were formulated through analysis of
published guidelines and synthesis during two workshops with experts
from genetic practice and research . Comments from ESHG members
and national societies have been received, and endorsement by ESHG
Board will now be sought .
Study description: This study aims to investigate how colleagues in the
clinical genetics community view these new professional guidelines,
and to identify any attitudinal, cultural, or practical barriers (professional/societal,
economic etc) which may inhibit them following these
guidelines in practice . Furthermore, the best ways for dissemination of
guidelines will be discussed, and potential barriers to this identified.
Study method: Guidelines and questionnaire surveys will be distributed
to self-selected delegates at the ESHG conference and selected
genetics centres in countries across Europe . Approximately 100 individuals
involved in providing genetic counselling will be recruited .
Open invitation to obtain copy of guidelines and participate in study:
ESHG delegates are invited to visit our poster to receive a copy of
the recommendations and to register an interest in participating in the
study .
P09.26
importance of database reviewing before prenatal diagnosis
M. Alonso1,2 , J. J. Tellería1,2 , I. Fernandez1,2 , A. Blanco1,2 ;
1 2 IBGM (Instituto de Biología y Genética Molecular), Valladolid, Spain, University
of Valladolid, Valladolid, Spain.
Cystic Fibrosis (CF) is an autosomal recessive disorder having a frequency
of 1:4000 in our population . So far, we had study more than
2000 samples, including about 1500 from neonatal CF screening since
1999 .
Several families with affected members or carriers asked us for genetic
counselling .
In 2000, four brothers and sisters of a CF patient´s mother were analysed
for the F508del mutation . One of them was found to be a carrier
of this mutation (heterozygote) while the others were non CF carriers .
Then, the carrier ´s partner was screened for 95% of the CF causing
mutations in our population using the DGGE-GC Clamp method .
We observed an anomalous DGGE pattern in exon 11, and by direct
sequencing we confirmed that it was the change I539T, previously described
as a CF mutation . We informed the couple that the risk for
having affected children was ¼ .
Eight years later, in 2008, the obstetrician called us for a prenatal
diagnosis of this couple . We reviewed the database and there were
some changes: in 2002 this “mutation“ had been subjected to functional
studies in mammalian cells showing that I539T not only does not
decrease the CFTR activity, but in fact increased its activity . Therefore,
the obstetrician and the couple were informed that prenatal diagnosis
in not necessary .
Preconcepcional carrier screening allows couples at risk to arrive at
informed reproductive decisions . Still, the information given to them
may have to be updated at the moment of choice between diferent
reproductive options .
P09.27
Results of Genetic counselling and molecular genetic testing of
severe monogenic disorders in Hungary between 1993 and 2006.
L. Tímár 1 , Á. Herczegfalvi 2 , H. Pikó 3 , K. Hajdu 4 , A. Tóth 4 , V. Karcagi 3 ;
1 National Institute of Child Health, BUDAPEST, Hungary, 2 Bethesda Children’s
Hospital, BUDAPEST, Hungary, 3 Dept. of Molecular Genetics, Natl. Institute of
Environmental Health, BUDAPEST, Hungary, 4 National Center of Health, BU-
DAPEST, Hungary.
During the genetic counselling of the severe monogeneic genetic disorders
it is very important to establish the exact etiological diagnosis
. The molecular genetic examinations play outstanding role in this
diagnostic procedure . Molecular genetic diagnosis provides effective
possibility for prevention of serious genetic disorders by prenatal diagnosis
and possible termination of pregnancy vhenever treatment of
diseases is unavailable . Moreover, genetic results provide accurate
differential diagnosis and proper medical care for this patients . Molecular
genetic examinations on the following severe genetic disorders
have been performed in our laboratory during the last 13 years: Spinal
Muscular Atrophy - in 78 families with 98 prenatal diagnosis; FRAXA
- in 38 families with 2 prenatal diagnosis;Charcot-Marie-Tooth diseas
type 1A - in 14 families; Duchenne/Becker Muscular Dystrophy - in 12
families; Congenital Myasthenic Syndrome - in 1 family; Facioscapulohumeral
Muscular Dystrophy - in 2 families; Limb Girdle Muscular Dystrophy
- in 2 families; Angelman syndrome in 5 families . The detailed
results will be reported in our presentation .
By performing the molecular genetic analysis effective diagnosis and
correct genetic counselling was established in our genetic unit .
P09.28
Inventory and classification of genetic diseases: a new service
of Orphanet
A. Rath, M. Georget, V. Lanneau, S. Aymé;
Inserm, SC11 / Orphanet, Paris, France.
Several nomenclatures and classifications of genetic diseases have
been developed since 1990, which overlap at the level of cellular models,
molecular assays and genomic testing, as biological and medical
researchers rarely communicate among each others . Genomics represent
one end of the scale of granularity . Electronic Health Record
Systems reside in medicine and form the other end of the scale . Both
have to be able to exchange information, for instance to make genetic
diseases visible in the health care system, but also to allow communication
within the community and permit the interfacing of different
databases . Nomenclature of genetic diseases has evolved a lot during
the past years, but no one knows how to establish the catalogue of
human genetic diseases as a definition of what is a disease is lacking.
To overcome this difficulty, Orphanet (www.orpha.net) has established
a database of phenotypes and of genes with the possibility to query by
disease name, by gene name or symbol or by sign . Every phenotype
is also classified in the multiple possible classification systems to allow
an understanding of its physiopathology of or its range of expression.
Every phenotype has a unique identifier which will remain stable.
Currently over 4,500 phenotypes are classified and indexed. This new
service, available since March 2008, is expected to provide a bridge
between clinicians and biologists for a mutual benefit.
P09.29
collaboration is key in the preliminary efforts of genetic
education for health professionals in chile for the welfare of
patients with genetic diseases
S. A. Castillo Taucher 1,2 , R. Pardo 1,3 , T. Aravena 1,3 , M. Aracena 4,5 , C. Villaseca
6,7 , C. Mellado 5 , P. Sanz 1,8 , F. Cortés 9,10 , N. Unanue 11 , M. Lagos 5 , M. del
Campo 12 ;
1 Genetic Unit Hospital Clínico Universidad de Chile, Santiago, Chile, 2 Genetic
Unit Clínica Alemana, Santiago, Chile, 3 Genetic Unit Hospital Sótero
del Río, Santiago, Chile, 4 Genetic Unit Hospital Calvo Mackenna, Santiago,
Chile, 5 Genetic Unit Hospital Clínico P. Universidad Católica, Santiago, Chile,
6 Genetic Unit Hospital Roberto del Río, Santiago, Chile, 7 Genetic Unit Clínica
Dávila, Santiago, Chile, 8 Genetic Unit Hospital San Juan de Dios, Santiago,
Chile, 9 Genetic Unit Instituto de Nutrición y Tecnología de Alimentos, Santiago,
Chile, 10 Genetic Unit Clínica Las Condes, Santiago, Chile, 11 Genetic Unit Hospital
Clínico San Borja Arriarán, Santiago, Chile, 12 Genetic Unit Hospital Val
d’Hebrón, Barcelona, Spain.
With all clinical geneticists in Chile(25), in 2003 we implemented a
website for clinical consultations that serve urban and rural hospitals;
Telegenética in Spain began simultaneously . Interchange of technical
support financed by Agencia de Cooperación Iberoamericana allowed
the Chilean website (www .teledismorfologia .cl) . We have made preliminary
efforts to use this site as a learning tool for postgraduate students
in Clinical Genetics from Latin America .
During 2005 we developed a pilot course “Online Education in Clinical
Genetics for Health Professionals” for those working in the only
population-based registry of congenital birth defects in Chile . In 2006
and 2007 (57 and 71% MDs, 0 and 13% foreigners, respectively) we
offered the program through www .medichi .cl, a net of digital learning
from Faculty of Medicine Universidad de Chile, and are planning the
third version 2008 .
The website and the course should improve care for patients and their
families by helping primary health care professionals understand ge-