2008 Barcelona - European Society of Human Genetics

Genetic counselling, education, genetic services, and public policy
us to analyse performance of a laboratory more specifically and to
survey if individual comments, provided by the assessors, were taken
into account by the laboratory .
Regular participation contributes to continuous improvement and monitoring
of internal quality in laboratory performance . Moreover, it is a
relevant tool for assessors to educate laboratories .
P09.21
Fetal alcohol syndrome among grade-one children in the
Northern cape Province of south Africa: prevalence and risk
factors
M. F. Urban 1 , M. F. Chersich 2 , L. Fourie 3 , C. Chetty 3 , L. Olivier 4 , J. Rosenthal 5 ,
D. L. Viljoen 4 ;
1 University of Cape Town, Cape Town, South Africa, 2 International Centre for
Reproductive Health, Kenya and University of Ghent, Ghent, Belgium, 3 Foundation
for Alcohol Related Research, Johannesburg, South Africa, 4 Foundation
for Alcohol Related Research, Cape Town, South Africa, 5 Centers for Disease
Control, Atlanta, GA, United States.
Objective: To describe prevalence, characteristics and risk factors for
fetal alcohol syndrome (FAS) and partial FAS among children attending
grade one in the Northern Cape Province of South Africa .
Design: Cross-sectional study using a two-tiered method for active ascertainment
of FAS/partial FAS cases . This comprised screening of
growth parameters, and then diagnostic assessment for screen-positive
children using clinical and neuro-cognitive assessments, and maternal
history of drinking during pregnancy . Mothers or care-givers of
children with FAS were interviewed, as well as matched controls .
Setting: Primary schools in De Aar (8) and Upington (15) .
Subjects: Grade one pupils in 2001 (De Aar, n=536) and 2002 (Upington,
n=1299) .
Outcome measures: FAS or partial FAS .
Results: Prevalence of FAS/partial FAS was high: 64/536 (119 .4/1000,
95% CI=93 .2-149 .9) in De Aar, and 97/1299 (74 .7/1000, 95% CI=61 .0-
90 .3) in Upington . Overall, 67 .2 per 1000 children (95% CI=56 .2-79 .7)
had full FAS features . Growth retardation was also common in this
population: 66 .6% (1181/1774) were underweight, 48 .3% (858/1776)
stunted and 15 .1% had a head circumference 75% of questions
correctly, but there were misunderstandings about the risk or implications
of carrier status. There was a significant difference in knowledge
between ethnicities . Adult patients with galactosemia had more misunderstandings
in relation to inheritance, recurrence risks and carrier
status than their parents . 83% of study participants requested more
information about their condition and its transmission . 40% of affected
adults with galactosemia identified a need to meet others with the
same condition . While parents of children with MSUD or galactosemia
are well informed, the majority expressed a wish for more information .
Adult patients themselves and parents from an Irish Travelling back-
ground could especially benefit from further genetic counselling.
P09.23
molecular testing for rare genetic disorders in Europe: hype or
hope?
P. J. Willems;
GENDIA (GENetic DIAgnostic network), Antwerp, Belgium.
Currently, there are huge differences between various countries in accessibility,
price and quality of molecular diagnostic testing . The bottlenecks
include the vast number of genetic diseases (> 1000), the low
number of samples per disease, the nature of the disease mutation
often being a private mutation, the high cost of testing and lack of reimbursement
by governments and insurance companies, and the lack of
an international organised network of diagnostic labs combining their
portfolio of tests . All these bottlenecks impair a cost-effective and reliable
diagnostic service, thereby holding molecular testing in many
countries in a preclinical era . However, the quality, accessibility and
cost-effectiveness of diagnostic tests for rare genetic disorders could
be substantially improved by the creation of an international network
of diagnostic labs combining their portfolio of tests and exchanging
samples for rare genetic disorders. The first network of diagnostic labs
offering genetic tests internationally was incorporated four years ago,
and is called GENDIA (for GENetic DIAgnostic Network) . It consists of
“referral labs” sending samples to GENDIA, “test labs” testing samples
they receive from GENDIA, and a central GENDIA lab coordinating the
network . Currently more than 2 .000 different genetic tests are available
through GENDIA . Such international network of genetic diagnostic
labs results in greater access to a large spectrum of genetic tests
performed with higher quality at lower cost .
P09.24
What is the impact of genetic counseling and prenatal diagnosis
in genetic diseases prevention in an Arab muslim population?
H. Chaabouni-Bouhamed1 , L. Kraoua1 , M. Chaabouni1 , M. Kharrat2 , L. Ben
Jemaa1 , R. Mrad1 , F. Maazoul1 ;
1 2 Department of Hereditary Disorders, Tunis, Tunisia, Department of Human
Genetics, Tunis, Tunisia.
Tunisians are mostly of Arab and Berber origin, and nearly all are Muslim
. Consanguineous marriages are prevalent . Tunisia is different from
its neighbouring countries in its accomplishments towards women’s
rights . The nuptial evolution toward a belated marriage model reduced
the progeny . Contraception is encouraged and abortion is legal in case
of medical or acute social problem . Genetic disorders are common in
Tunisia; more than 70% of the population are educated and most are
receptive to health guidelines . Genetic counselling (GC) and prenatal
diagnosis (PND) are performed as medical facilities in a limited number
of genetic centres . To evaluate the real impact of GC and PND
on genetic diseases prevention, we surveyed during three years 2862
couples /families who were referred to our center . We evaluated the
impact of GC on parents’ attitude by analyzing the occurrence of pregnancies
and the acceptance of prenatal screening and PND . Parameters
were correlated to parents’ age, socioeconomic situation, and
education level; and to the disease . Our results showed that people in
Tunisia ask for GC and follow it in most cases . The response quality
is variable depending on the patients’ education and their socio-economic
class . This is in some ways different from other Arab countries
with similar cultural and religious backgrounds, probably due to social
and legislative differences . At present, GC and PND seems to be the
method of choice for prevention of genetic diseases in Tunisia and
such services should be developed as a priority despite the financial
costs of such a programme . .
P09.25
Exploring the views of European clinical genetic professionals
on new international recommendations for genetic counselling
related to genetic testing
R. A. Pestoff 1 , H. Kääriäinen 2 , E. Rantanen 3 , M. Hietala 3 , L. Kerzin-Storrar 1 ;
1 Medical Genetics Research Group and Regional Genetics Service, CMMC and
University of Manchester, Manchester, United Kingdom, 2 Institute of Biomedicine
- Department of Medical Genetics, Turku, Finland, 3 Department of Medical
Genetics, Turku, Finland.
EuroGentest: The main goal of the EuroGentest Network of Excellence
is to improve and harmonise the quality of genetic testing in Europe .