2008 Barcelona - European Society of Human Genetics

Genetic counselling, education, genetic services, and public policy
sented with nystagmus and photodysphoria . A few months later, Jason
also suffered congestive heart failure due to dilated cardiomyopathy .
Following visits to her local hospital, and a referral to Birmingham Children’s
Hospital, Jason was diagnosed with Alström syndrome . Jane
had never heard of this condition before and uses Orphanet to find out
more about it, and how to meet other parents with affected children .
Case study 2: Paul is a consultant clinical geneticist specialising in
skeletal malformations . Paul has a patient with Schinzel Phocomelia
and has learned, through the OrphaNews Europe newsletter, that a UK
study is ongoing to discover genotype-phenotype correlations for this
condition. He also uses Orphanet to find out that a laboratory in Berlin
offers mutation analysis for the WNT7A gene, which causes Schinzel
Phocomelia .
Case study 3: Samantha is a researcher who recently gained her PhD
and then took a postdoctoral position working on Batten disease . Samantha
uses Orphanet to discover what other research is ongoing for
Batten disease and also to find contact details of potential collaborators
.
P09.49
Protecting patient’s confidentiality: opinions of russian medical
geneticists
V. L. Izhevskaya, V. I. Ivanov;
Research centre for medical genetics, Moscow, Russian Federation.
The views of medical geneticists, working in Russian genetic consultations,
on protecting the confidentiality of a patient and the availability of
genetic information to his/her relatives, spouses and third parties were
estimated . From 9 to 26 % of geneticists (depending on disease in
question) considered it permitted to inform the relatives on the results
of genetic testing without the consent of the patient. The significant
part of geneticist (61,8%) considered, that samples of stored DNA,
should be available to blood relatives of a patient without his consent .
About a half of doctors considered, that the employer and the insurance
companies could have access to the results of genetic testing
with the consent of the patient, from 30 to 50 % - that such information
can be given to schools with the consent of parents of the child . From
10 to 25 % of geneticists considered, that such information should be
accessible to third parties without the consent of a patient . Thus, we
could show, that Russian medical geneticists began to concern more
respect to the right of a patient for confidentiality of genetic information
then ten years ago .
P09.50
the role of Patient’s Organizations in establishing some
strategies in the healthcare system concerning rare diseases
M. Puiu1 , A. Tarniceru1 , D. Dan2 ;
1 2 University of Medicine and Pharmacy, Timisoara, Romania, Romanian Prader
Willi Association, RONARD, Zalau, Romania.
In Romania rare diseases are really orpheline . The project started by
Romanian Prader Willi Association in 2007 (a project realized with the
financial support of Trust for Civil Society in Central and Eastern Europe)
induced multiple changes and it has a real chance that it’s main
objective to be accomplished . This objective is to develop the awareness
of the community regarding patients affected by rare diseases
by involving the social actors from this domain: patients, families and
specialists . In the same project it was founded Romanian National Alliance
for Rare Diseases (RONARD) whose objectives are: to organize
informational campaigns concerning rare diseases, to adopt a national
strategy in approaching rare diseases, lobby and advocacy activities
to transform these strategies in a National Plan for Rare Diseases approved
by the Ministry of Health . Today Romania is much closer to
the European system in approaching patients with rare diseases with
the support and guidance of EURORDIS (European Organization for
Rare Diseases), Orphanet (a database with information about rare diseases
and orphan drugs) and the involvement of the Ministry of Health,
Labor Ministry and Ministry of Education . The activities sustained by
RONARD (courses, conferences, media messages) in the relationship
with authorities, specialists, patients and their families, but also the
civil society in general, will guarantee the necessary environment to
create a social and medical system in which Romanian patients with
rare diseases will benefit from diagnosis, treatment and care conditions
similarly as patients from other European countries .
P09.51
Policy harmonization and population biobanks
S. Wallace, S. Lazor, B. Knoppers;
Université de Montréal, Montreal, QC, Canada.
Policymaking in an international context is often delegated to recognized
international organizations (e .g . WHO, UNESCO, OECD) . Similarly,
international societies of concerned individuals and experts contribute
to the elaboration of guidance, within the context of their cultural
and national setting . Many of these groups have contributed policy recommendations
that relate to the field of population genomics. But are
the ethical, economic, environmental, legal and societal issues simply
being multiplied and blurred by the sheer number of participants? At
the Centre de recherche en droit public (CRDP) of the Université de
Montréal, in Montréal, Canada, a Policymaking Core has been established
to work with and inform the international community of the
possibility and importance of prospective approaches to traditional issues
such as consent, access, governance and commercialization, as
they relate to population biobanks . If these issues are not discussed
and some level of harmonization and clarity achieved, the population
health goal of these ambitious projects will be hindered, due to the absence
of policy interoperability . To this end, the Core collaborates with
the Public Population Project in Genomics (P 3 G) member biobanks
to create tools that will aid the harmonization of various aspects of
biobank policy . Generic consent materials have been created and are
publically available from the P 3 G Observatory; future work will focus on
governance and access issues .
P09.52
Burden of Genetic Disease in colombia, 1996-2025
J. Bernal, F. Suarez;
Instituto de Genetica Humana, Bogota. D.C., Colombia.
Objective . To establish the load of genetic diseases in Colombia, according
to population growth parameters until the year 2025 . Methods
. The frequency of new cases of genetic diseases and congenital
malformations was calculated, establishing the potentially lost years
of life, cause of incapacity and cause of death by these pathologies,
weighing the data according to the growth and life expectancy of the
Colombian population from 1996 until 2025 . Results . Genetic diseases
have a frequency that oscillates between 37 .3 and 52 .8 by each 1,000
inhabitants . Congenital malformation and birth defect frequencies are
included, with a proportion of ≈ 50% of the studied genetic pathologies.
Conclusions . There is a potential load of genetic disease that raises
the need to implement more centers for the training of geneticians and
auxiliary personnel who can in the future, provide suitable services, of
diagnosis and genetic assessment .
P09.53
A restropective analysis of clinical prenatal counselling activity
performed by two clinical medical genetics centers in Emilia
Romagna region, italy (2000-2006)
F. Rivieri1 , S. Rosato1 , G. Astolfi1 , A. Baroncini2 , S. Bigoni1 , G. Sani2 , A. Sensi1 ,
F. Soli2 , E. Calzolari1 , O. Calabrese1 ;
1 2 U. O. di Genetica Medica, Ferrara, Italy, U. O. di Genetica Medica, Imola,
Italy.
A restropective analysis of clinical counselling records in two clinical
genetics services in Emilia Romagna Region (Ferrara and Imola)
is presented. A shared specific software (GCS) allows a systematic
and homogenous collection of data . Diagnostic data were checked
for correctness by medical geneticists . The study is focused on prenatal
counselling in the period 2000-2006 (more than 9100 consultations)
which represents >70% of the activity for both Medical Genetics
Centres . The National Health System offers prenatal counselling for
increased chromosomal anomalies linked to advanced maternal age
(=>35 years) . These referals represent 45% of prenatal counselling .
In 2 .9% of these prenatal settings, unexpected additional relevant reproductive
risks have been discovered (1 .7% mental retardation and
1 .2% mendelian diseases) requiring an urgent and appropriate activation
of clinical and laboratory diagnostic pathways . The referrals for the
other prenatal consultations were heterogeneous mendelian diseases
(29 .2%) followed by chromosomal conditions (16 .6%) . Different proportions
were seen in the two medical genetics services, reflecting the
specialised activities as regional hub centres: hemoglobinopathies in
Ferrara and cytogenetics in Imola . These specialised centres attract