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

Genetic counselling, education, genetic services, and public policy 0
For the scheme of 2006, results were submitted early 2007. A comparison
will be made between the two trials. Furthermore, the evaluation
will determine if there is any improvement for laboratories who participated
in the trial twice.
P1379. Quality Management and accreditation of genetic testing
services
R. J. Hastings 1 , D. Barton 2 , S. Berwouts 3 , C. Brady 2 , P. Corbisier 4 , A. Corveleyn
3 , R. Elles 5 , B. Fowler 6 , D. Gancberg 4 , P. Litynski 6 , M. Macek Jr 7 , U. Malburg
8 , G. Matthijs 3 , M. Morris 9 , C. Mueller 8 , N. Nagels 3 , B. Quellhorst-Pawley 1 ,
A. Stambergova 7 , J. Vermeesch 3 , K. Vickers 5 , E. Dequeker 3 ;
1 John Radcliffe Hospital, Oxford, United Kingdom, 2 Our Lady’s Children’s Hospital,
Dublin, Ireland, 3 KU Leuven, Leuven, Belgium, 4 European Commission,
Geel, Belgium, 5 St. Mary’s Hospital, Manchester, United Kingdom, 6 University
Children’s Hospital, Basel, Switzerland, 7 Charles University, Prague, Czech
Republic, 8 Universitaet Wuerzburg, Wuerzburg, Germany, 9 CMU, Geneva,
Switzerland.
The EuroGentest network aims to improve and harmonize the quality
of the genetic services in Europe. The network encompasses Biochemical,
Clinical, Cyto- and Molecular Genetics. The EuroGentest
Quality Management group is aiming to improve the organization and
harmonization of External Quality Assessment (EQA) schemes, facilitate
the development of guidelines and disseminate Quality assurance
(QAu) information through a databaseas well as assisting laboratories
in attaining and maintaining accreditation. In addition, this group
is reviewing suitable quality control materials (QCMs) and providing
documentation/SOPs on new technologies.
Since January 2005, the group has disseminated information on accreditation
through five international workshops. A database on the
current status of QAu in European genetic testing services will soon
be publicly available. On the website, laboratories can find the EQA
scheme most appropriate to their needs through discipline specific
registers of schemes in Europe. All three laboratory disciplines have
expanded their repertoire of EQA including a pilot European cytogenetics
scheme, CEQA. Minimum quality guidelines have been published
for cytogenetics and some biochemical analytes. Draft guidelines
for microarrays will be published later this year. In collaboration
with EMQN, best practice meetings will be organised in 2007 for Familial
Breast Cancer, Spinocerebellar Ataxias and Maturity Onset Diabetes
of the Young to generate consensus guidelines. Finally QCMs for
Prader-Willi/Angelman syndromes are being developed and validation
of MLPA, diagnostic CF-testing kits and DNA extraction methods are in
progress through a core group of accredited laboratories with reports
due this year.
P1380. Improving the quality system in our laboratories by
sharing experiences
E. Dequeker 1,2 , S. Berwouts 1,2 , M. Gielis 3,2 , A. Wynants 3,2 , M. A. Morris 4,2 ;
1 KULeuven Centre for Molecular Genetics, Leuven, Belgium, 2 EuroGentest,
Leuven, Belgium, 3 MCR, Leuven, Belgium, 4 Medical Genetics, Geneva University
Hospitals, Genevea, Switzerland.
Genetic services have considerably increased their activity in the past
few years and quality assurance (QAu) is now essential in order to
minimize potential errors and deficiencies. The introduction of quality
standards in laboratories, and the growing interest in and requirement
for accreditation, has made better understanding of quality management
(QM) and QAu a priority. Consequently the EU project Euro-
Gentest aims to improve and harmonize the overall quality of genetic
services.
In a focus on training and education, key parameters in improving
quality, a series of workshops has been held in 2005 and 2006 to aid
laboratories in their processes of developing QM systems and working
towards accreditation. The subjects varied from living with quality systems
and comparing the different norms for accreditation, to specific
topics like internal audit and IT support for QM.
An interactive approach combining brief expert presentations, case
studies of concrete situations related to quality and group debates to
exchange experiences and opinions form the basis of the workshops.
A specialist in the “human side of change processes” participated actively
in these workshops, helping to overcome the aspect of motivation
and change, which is inevitable when implementing a quality
system.
Approximately 60 different genetic laboratories from 20 different coun-
tries have participated in the first five workshops and 16 laboratories
participated more than once. Tangible outcomes have included criteria
for selecting an appropriate IT programme to support QM systems, a
list of companies providing such software, and a concrete interpretation
of all phases of an internal audit.
P1381. Collaborative Experience of the Romanian Prader Willi
Association with Medical Specialists
M. Puiu1 , D. Dan2 , C. Skrypnyk3 ;
1 2 University of Medicine and Pharmacy, Timisoara, Romania, Romanian Prader
Willi Association, Zalau, Romania, 3Medical Faculty, Oradea, Romania.
Introduction In the absence of a national governmental strategy for
Rare Diseases (RD), an EU priority for Romania, the collaboration of
local and national NGOs and medical specialists is essential. The aim
of our paper is to focus on the encouragement of a collaborative effort
between Higher Education Medical Universities, medical specialists,
and NGOs serving beneficiaries in the RD sector through a multidisciplinary
approach.
Results Families of children with RD have interacted with medical specialists
and benefited by becoming more assertive and by achieving
more developmental milestones. APWR has established contacts with
a Genetic Lab and renewed the contact with Mauro Baschirotto, Institute
for Rare Diseases and established new relationships with genetics
specialist which helped us to diagnosed the patients in important
genetics Institute and laboratories: Institute of Medical Genetics from
Zurich, Institute of Human Genetics- Wurzburg, Institute of Clinical
Genetics, Olgahospital-Stuttgart, Genetic Lab. Organized a training
course for parents, genetic evaluating for children, a training course in
genetics for family doctors, under auspicious of the Medical University,
Timisoara.
Conclusions The health of people with disability and the social integration
can be improved if they have every opportunity to enjoy family life,
education, friendship, access to public facilities and freedom of movement.
Action should be aimed at collaboration between medical specialists,
families, and NGOs. Developing awareness about the needs
of children with RD and engaging public in a shared strategy for the
development of genetic services, will ensure a collaborative international
approach in sharing of expertise and experience.
P1382. Recurrent spontaneous abortion and consanguinity
N. Ghasemi 1 , M. Mosaddegh 2 , M. Abdoli 1 ;
1 Infertility Research and Clinical Centre, Yazd Shahid Sadoughi Medical Sciences
University, Yazd, Islamic Republic of Iran, 2 Yazd Shahid Sadoughi Medical
Sciences University, Yazd, Islamic Republic of Iran.
An expected 15% of clinically established pregnancies abort spontaneously.
When all known causes of fetal losses are ruled out, there
remains a population of women (0.5-1.0%) who have recurrent fetal
losses of unknown etiology. A important part of these recurrent spontaneous
abortions may be due to primarily genetic causes. The significant
characteristic of couples experiencing such fetal losses is the
sharing of alleles between husband and wife. The suggestion developed
here states that the sharing of recessive lethal genes could be
caused by consanguinity. These recessive lethal alleles could not act
alone to cause problem, but they could act with lethal alleles on other
sister chromosome. This means both husband and wife were normal
and usually their family did not have any genetic disorder, but these
fetuses could not live with these alleles.
Present study reports the result of genetic counseling for couples with
recurrent spontaneous abortion in Yazd Infertility Research and Clinical
Centre. The results showed the coefficient of inbreeding of 4% of
these couples was 1/8. In 25% it was 1/16 and in 14% was 1/32.
Karyotype was normal in 99% and remain 1% had inversion especially
in chromosome 9.
Finding the lethal genes in most of these couples was not possible or
very expensive, because no abnormalities were found in their pedigree.
Abortion causes important psychosomatic problem for mothers,
therefore using assisted reproductive technique such as egg or embryo
donation were recommended in most of these couples especially
after 5 or 6 abortion.