2008 Barcelona - European Society of Human Genetics

Genetic counselling, education, genetic services, and public policy
bodies as a tangible measure of the quality of a laboratory’s performance
as it provides a consistent standard to which services should aspire . Accreditation
of laboratories will be valuable in the harmonization of standards
and strategies, in the assessment of emerging technologies, as
well as in the provision of training and education .
The Quality Management Unit of the EuroGentest Network is involved
improving the quality of diagnostic services in all these areas, through
training, education, reference materials, new EQAs, best practice guidelines,
SOPs and validation documents .
P09.58
Quality and risk management for molecular genetic testing in the
laboratory and clinical settings: A perspective from the United
states
I. M. Lubin1 , A. E. Pollock1 , M. E. Romano2 , S. Snyder1 ;
1 2 Centers for Disease Control and Prevention, Atlanta, GA, United States, Boston
University, Boston, MA, United States.
A Quality / Risk Management Model is proposed for the provision of
molecular genetic testing services . This Model emphasizes critical
junctures in the testing process where the assembly and communication
of clinically relevant information is necessary for appropriate
patient management . The evidence-base for this model is derived
from earlier studies and particularly those addressing the provision of
DNA-based testing for cystic fibrosis in the United States. The Model
emphasizes the pre- and post- analytic components of the testing
process . Critical components include, among others, initial decision
to order the test, efforts taken to collect and communicate patient/family
information prior to testing (i .e ., relevant clinical information, family
history, race/ethnicity), specimen type, handling, and transport, laboratory
evaluation of the test request, specimen adequacy, selection of
methodology, development of the test report, communication of the
result to the clinical setting, and evaluation of the report toward informing
appropriate clinical decision making . The role of personnel competency,
integration of professional guidelines into practice, costs, and
variation in practice settings are commented upon . It is envisioned that
such a Model may be useful as a tool for identifying and developing
interventions to reduce risk and improve performance to promote high
quality testing services in the United States and may have elements
applicable elsewhere .
P09.59
the role of volunteers in activities supporting Rare Diseases
Alliance
M. Gafencu1 , G. Doros1 , M. Puiu1 , D. Dan2 , A. Balint3 ;
1 2 University of Medicine and Pharmacy, Timisoara, Romania, APWR, Zalau,
Romania, 3Save of Children, Timisoara, Romania.
The problematic of Rare Diseases in Romania was a true Cinderella
until 2000 . In the latest years due to the initiative of NGO is this pathology
caught the attention of medical people by the means of the model
that was offered in Europe, where the role of volunteers derived from
families, universities and NGO is become essential .
In the activity of NGO Save the Children, Timis branch in partnership
with pediatricians and the University of Medicine and Pharmacy Timisoara
was initially penciled with two Associations of Patients suffering
of genetic diseases (Down syndrome and Prader Willi Syndrome) .
Using the young group of volunteers that have worked with patients
suffering of Down syndrome and using the expertise of Genetic Chair,
was initiated collaboration by many specialists and NGOs resulting the
National Alliance of Rare Diseases in Romania . Now we have more
than 15 Associations I the Alliance .
The Volunteers of Save the Children, Timis branch participated at the
first National Conference of Rare Diseases (2007 Zalau, Romania). In
collaboration with specialists we have trained a number of 20 young
volunteers from Save the Children Timis . Now they are preparing the
activities for a week dedicated for Rare Diseases in each February
(mass media campaign, street campaign about this theme, round table
with specialists, patients, volunteers and family patients) .
Conclusions
The role of young volunteers within this Association was essential . The
volunteers of Prader Willi Romanian Association and Save the Children
Timis have coordinated the first activities for those pathologies
patients .
P09.60
Genetic counseling in familial autosomal reciprocal
translocations
F. I. Sahin 1 , Z. Yilmaz 1 , T. Cok 2 , O. Ozer 1 , H. B. Zeyneloglu 2 ;
1 Baskent University Faculty of Medicine Department of Medical Genetics, Ankara,
Turkey, 2 Baskent University Faculty of Medicine Department of Obstetrics
and Gynecology, Ankara, Turkey.
Reciprocal translocations are common chromosomal rearrangements
resulting in an increased risk of a segmental aneusomy in children of
a carrier . The reciprocal translocation carrier families are interested in
their risks of having an unbalanced offspring . Segregation analyses of
pedigrees are important in such families before genetic counselling is
given . In the current study, we examined the three generation pedigree
analyses of 17 cases with autosomal reciprocal translocations with different
indications for chromosome analyses . Karyotype analyses of
Giemsa-trypsin banded chromosomes were made after the first genetic
counselling session during which a three generation pedigree
was drawn . Of all the patients, 7 cases were consulted because of
recurrent abortuses, 3 cases of infertility . 1 case had a previous child
with congenital abnormalities and 1 case had a known familial reciprocal
translocation . 5 cases were detected prenatally . Of these, 2 had
increased Down syndrome risk in an ongoing pregnancy . Amniocentesis
was performed in 2 cases because of advanced maternal age
and in 1 case because of a known reciprocal translocation in mother .
We detected reciprocal translocation in all cases . During the second
genetic counselling session, the patients were informed about their
magnitude of calculated risks of having an abnormal child, about the
possible abnormalities of the offspring and risks of pregnancy losses .
As for the infertile couples, the possibility of preimplantation genetic
diagnosis was also discussed as well as the impact of the translocation
on gametogenesis .
P09.61
Certified Reference Materials for genetic testing
D. M. Gancberg, P. Corbisier, H. Schimmel, H. Emons;
European Commission, Joint Research Centre, Institute for Reference Materials
and Measurements (IRMM), Geel, Belgium.
The lack of tailored reference materials (RMs) and reference measurement
procedures for genetic testing slow down the validation and
development of new assays and question the reliability of results as
tests might potentially be performed in absence of adequate quality
controls . The IRMM, as accredited reference material producer (ISO
Guide 34), has released in 2006 a set of three certified RMs to be used
for the detection of the G20210A mutation in the human prothrombin
gene . The materials consist of a 609 bp fragment of the gene (wildtype
or mutant sequence) inserted into a pUC18 plasmid. The certification
procedure, including the methods used, is described in detail in the
certification report and discussed in a recent publication (Clin Chem
Lab Med, in press) . These activities support the efforts of the genetic
community to improve the quality assurance and the harmonisation of
genetic testing in Europe and beyond . In addition, IRMM has issued, in
the frame of the European Network of Excellence EuroGentest, a guidance
document on the use of RMs in genetic testing . This document
tackles, with internationally recognised definitions, the state-of-the-art
in the field, the selection criteria for RMs according to their use and
provides examples for better understanding of the requirements in the
field. This presentation will provide an overview on both developments
and an outlook to further needs .
P09.62
the Genetic testing Reference materials coordination Program
(Get-Rm)- A sustainable community process to improve
availability of appropriate reference materials for genetic testing
L. V. Kalman, S. Barker;
Centers for Disease Control and Prevention, Atlanta, GA, United States.
BACKGROUND: The expansion of clinical molecular genetic testing
has increased the need for appropriate and characterized cell line/
genomic DNA reference materials for quality control, test validation,
proficiency testing, and development of new genetic tests. However,
despite the growing test volume and the rapidly increasing number
of tests offered, the necessary reference materials are not available
for the vast majority of tests . METHOD: The U .S . Centers for Disease
Control and Prevention (CDC), in collaboration with the genetic testing