2009 Vienna - European Society of Human Genetics

Genetic counseling Genetics education, Genetic services, and Public policy
tial impact for achievements of active longevity and creation most favorable
conditions for maximal duration of individual life-span. Participation
of major age-regulated genes such as «biological clock» genes
and the «weak chain» genes (predisposing to different multifactorial
diseases) in ageing of humans is outlined. The significance of genetic
testing of allelic polymorphisms and marker-genes implicated in common
multifactor disorders such as bronchial asthma, osteoporosis,
trombophilia, endometriosis, diabetes and preeclampsis is reviewed.
Major problems evoked by sophisticated genetic testing results interpretation
are considered. Special attention is paid to Genome Wide
Association Studies (GWAS) technology implemented for analysis of
genetic profiles and candidate genes associated with common diseases.
Scientific problems and social interests in creation of individually
oriented DNA-data banks (Gene Passes) amenable for the pregnant
women, children, sportsmen, etc are discussed. The relationship of
Gene Pass concept to the current international genetic program of
«Perosonificated Genome» is highlighted. Feasible perspectives genetic
testing and basic contribution of Gene Pass into gerontology
practical medical service are reviewed.
P01.19
Orphanet UK and ireland, a growing Rare Disease resource
I. Gomez Paramio1 , S. Aymé2 , H. Middleton-Price1 , D. Donnai1 ;
1 2 The Nowgen Centre, Manchester, United Kingdom, ORPHANET-INSERM
SC11, Paris, France.
Orphanet (www.orpha.net) the largest international online resource for
rare diseases involves 38 countries and lists >11500 professionals.
Orphanet features a comprehensive classification of rare diseases.
Orphanet UK and Ireland was established in 2004 and has grown in
depth, listing >2500 rare disease services and now featuring QA data
and professional networks.
These cases show how patients, health professionals and researchers
benefit from Orphanet.
Case 1: At 39 years Oliver started to bite his tongue without any apparent
reason. He visited many professionals until in 2008 he was diagnosed
with Neuroacanthocytosis. Through Orphanet he learned about
his disease. He also found a support group for Neuroacanthocytosis
patients and a specialised clinic close to home.
Case 2: Liz, a consultant specialising in lysosomal storage disorders,
has a three month-old patient suffering from Gaucher disease type2.
Through Orphanet she discovered a new orphan product based on a
tartaric acid salt. She also learned about its potential benefits to treat
this life-threatening disease due to its different mechanism of action in
relation to other products.
Case 3: Tom is a researcher involved in a project about rare types
of Arthrogryposis, including Kalyanaraman syndrome. Tom uses Orphanet
to learn about these syndromes, find relevant articles and other
European research projects. He uses its multiple disease classifications
to discover links with other very different diseases having similar
symptoms.
These cases highlight the importance of accessible and accurate information
about rare diseases. They also illustrate the importance of a
European approach to improve diagnosis, care and treatment.
P01.20
Unbalanced Offspring of Reciprocal translocation carriers:
Genetic counseling and Ethical considerations
F. I. Sahin, O. Ozer, Z. Yilmaz;
Baskent University Faculty of Medicine Department of Medical Genetics, Ankara,
Turkey.
Genetic counseling is the process during which information is given
about a genetic condition. On the basis of two unbalanced offspring,
ethical considerations and parental decisions during genetic counseling
will be discussed.
The first family had a baby with multiple congenital abnormalities and a
karyotype 46,XY,der(14)t(1;14)(q42.1;q32.3)mat. Their major concern
was the wellbeing of the child as the baby had growth retardation.
The second family had a prenatally diagnosed fetus with a karyotype
46,XX,ish der(3)t(3;13)(p22;q21)pat(wcp13+). The parents decided to
continue the pregnancy.
In the first case, parents did not know about the consequences of an
unbalanced child as they did not have the opportunity to have a genetic
counseling session before the baby was born. They accepted
their child and were concerned about the prognosis of the baby. Second
family had two counseling sessions, before and after diagnosis. In
the first session, they were given information about the procedures to
be performed, in the second; information about the unbalanced karyotype
was given. They believed the child is healthy and stated they are
ready for any difficulties to be encountered during lifetime of the child.
Although, we offered termination of the pregnancy as an option, we
admired their decision.
Genetic counseling sessions have three goals including; education
and informing, providing support and help cope and facilitate informed
decision making, need to be nondirective and patient relief is important.
Social and educational facts as well as the practitioner’s attitude
play role in making decision, which sometimes has priority on the mentioned
scientific facts.
P01.21
Role of the family in genetic counselling for predictive testing of
late onset neurological diseases
M. Paneque Herrera, M. Fleming, J. Sequeiros;
IBMC, Porto, Portugal.
The role of the family in genetic counselling for predictive testing of
late onset neurodegenerative diseases is a topic of growing interest
and not yet sufficiently explored. Impact of involving the family in the
dynamics of the predictive process remains quite unclear. The present
longitudinal study aims at exploring the relationship between family
and disease in the context of genetic counselling during pre-symptomatic
testing (PST) for two neurodegenerative diseases: Spinocerebellar
Ataxia Type 2 (SCA2) and Familial Amyloid Polyneuropathy
ATTRV30M (FAP). For one year, we followed 35 subjects that carried
out PST for SCA2 in Cuba and 28 subjects for FAP, in Portugal. It was
shown that the family influences psychological behaviour of subjects
requesting PST, starting from the decision making process down to
the changed indicators of psychological wellbeing of those performing
PST. After diagnosis, family functioning decreases regardless of the
outcome, and the presence of the disease in the mother is associated
with a greater disrupting effect of the disease in the family. In the
future, additional short and long term longitudinal studies are essential,
not just regarding the way in which the family influences genetic
counselling process in predictive testing, but also on how the latter is
influenced by the process of diagnosis.
P01.22
Process to incorporate genetic disease in the WHO international
classification of diseases: tools managed by Orphanet
S. Aymé, A. Rath, B. Bellet, M. Georget;
ORPHANET, Paris, France.
The current International Classification of Diseases (ICD10) has undergone
a revision process which should lead to a release of ICD11 in
2014. Most genetic diseases are absent in ICD10 and the ones having
a specific code are often misclassified. As a consequence, morbidity
and mortality due to genetic diseases is invisible in health information
systems. To overcome this difficulty, Orphanet (www.orpha.net) has
established a partnership with WHO to ensure a fair representation of
rare diseases in general. In order to prepare the proposal, Orphanet
has collected all published expert classifications and established a database
of phenotypes indexed with ICD10 codes, MIM codes, genes,
mode of inheritance, age of onset, class of prevalence. Phenotypes
are assigned to as many classification systems as necessary to represent
them. The visualisation of the classification systems and of the
place of each disease within the classifications is available on the Orphanet
website. A Topic Advisory Group on rare diseases has been
established to manage the revision process at WHO. The whole community
of experts is going to be involved in the validation of the proposals
prepared by Orphanet during the year to come. Information will
circulate via OrphaNews Europe. The human genetics community is
invited to take an active part as the results will condition the visibility of
all activities in the field.