2009 Vienna - European Society of Human Genetics

Genetic counseling Genetics education, Genetic services, and Public policy
More than three fourths and more than half of patients, respectively,
were diagnosed based on results of genetic testing and family history.
At the time of diagnosis, with surprise and uneasiness, many respondents
concerned “inheritance of the disease to their children” as well
as their own “future symptoms” and “future treatment”. As time passes
after the diagnosis, majority of patients reported a relief of anxiety, but
some reported further increase of their anxiety, probably related to aggravation
of the diseases and concern about genetic testing for their
children. At the time of diagnosis, medical information was on the top
of the list they wanted, but as time passed, they asked more social-
and physical support.
In addition to an appropriate medical management, sustained assistance
which meets variety of needs of patients and the families is necessary
to provide better quality of life to them, and establishment of an
appropriate administration system is desired for that purpose.
P01.36
molecular and cytogenetic laboratory of Leningrad province:
2008
I. A. Ivanov1 , M. O. Mkheidze2 ;
1 2 District Children Hospital, St.Petersburg, Russian Federation, Medical Academy
for postgraduate studies, St.Petersburg, Russian Federation.
Molecular and cytogenetic laboratory is stationed at District Children
Hospital. Last year it realized neonatal screening for PKU, CH, CF,
galactosemia, cytogenetic investigations for making diagnosis of chromosomal
pathology, prenatal screening for congenital defects (doubletest),
confirmation of hereditary diagnosis, medical care, long term inpatient
and outpatient care, dietary management, genetic counseling.
10951 of newborns were examined through neonatal screening. Four
children with PKU, two cases of CH, one case of galactosemia and
one case of CF were diagnosed. Cohort of children with PKU, CH, CF
and galactosemia has special dietary and medicinal treatment. Prenatal
biochemical screening of the first ( PAPP-A, HCGb) and the second
(alfa-FP, HCG) trimesters was performed for pregnant women (5962).
Owing to realization invasive prenatal investigation (369) we were able
to detect prenatally trisomy 21 (3 cases), Turner syndrome (2 cases),
syndrome of partial deletion of chromosome 18 (1 case). We have detected
some new cases of chromosomal pathology postnatally (in total
969 samples): trisomy 21 (22 cases), trisomy 18 (2 cases); syndrome
of partial deletion of chromosome 5 (1 case), and some other cases
with chromosome pathology. Five children with CF were found using
sweet test for 260 samples. We continue to create register of inherited
and congenital disorders among Leningrad province population.
P01.37
First experiences with the extended newborn screening program
in the Netherlands
M. C. Cornel1,2 ;
1 2 VU University Medical Center, Amsterdam, The Netherlands, Centre for Society
and Genomics, Nijmegen, The Netherlands.
By January 1st , 2007 the newborn screening program in the Netherlands
was extended from three disorders to 17, including mediumchain
acyl-CoA dehydrogenase deficiency and sickle-cell disease. The
selection of disorders to be screened for was based on a report of the
Dutch Health Council. Three categories were distinguished: disorders
for which considerable irreparable damage can be prevented (category
1), disorders for which this applies to a lesser degree or for which
the evidence is inconclusive (category 2), and disorders for which newborn
screening does not prevent damage to health (category 3).
In 2007 a total of 194 infants were diagnosed in the neonatal screening
program, including 60 with sickle-cell disease or a serious hemoglobinopathy,
70 with a metabolic disorder, 57 with congenital hypothyroidism
and 7 with congenital adrenal hyperplasia. The uptake remained
stable at 99.75%. Information in the third trimester of pregnancy was
given to enable parents to make an informed decision on participation
to the newborn screening and to decide on unintentionally found carrier
information. The decision to participate to the newborn screening
was an informed decision in 80% of cases. The decision (not) to opt
out to receive information on carrier status was an informed decision in
60% of cases. The attitude to the newborn screening program is very
positive, but information can be improved. Carrier status was often
communicated without stressing the consequences of this information
for reproductive choices of the parents. The next disease to be in-
cluded might be cystic fibrosis.
P01.38
Genetic counseling of phenylketonuria (PKU) patient’s parents
V. L. Izhevskaya1 , L. Y. Ivanova2 , I. V. Zhuravleva2 , E. K. Ginter1 ;
1 2 Research centre for medical genetics, Moscow, Russian Federation, Institute
of sociology, Moscow, Russian Federation.
The PKU patient’s parents appraisal of different aspects of genetic services
in Russia in connection with neonatal screening was estimated.
261 respondents from 5 regions of Russia were participated in the
research. Only 13.4% of respondents knew about the program of neonatal
screening for PKU in Russia before the birth of the PKU child
while over 85 % of them knew nothing about it. Many respondents
specified the absence of the adequate information about screening
for hereditary diseases in their comments to the questionnaire. Almost
all respondents (97%) have received information about the hereditary
character of their child disease from the genetic counselors, and 95.8
% of them have specified that they have understood this information.
However only 62.9% of respondents could correctly specify the value
of recurrence risk of PKU, and only 36.4 % of them could correctly attribute
a risk category. From our point of view the absence of adequate
information about neonatal screening as well as simultaneous providing
information on hereditary character, recurrence risk and prenatal
diagnostics of the PKU make genetic counseling of such families noneffective.
Changes in methodology of genetic counseling of PKU families
should be introduce in Russia. Prenatal diagnostics of PKU was
acceptable for approximately to 40% of respondents, and the abortion
of a PKU foetus is morally acceptable to about two-thirds of them.
P01.39
correlation of clinic, genetic and epigenetic aspects implicated
in the etiology of Prader Willi/Angelman syndromes: model of
multidisciplinary approach for rare diseases in Romania
M. Puiu1 , G. Anton2 , D. Dan3 , C. Popoiu1 , C. Rusu4 , V. Pop5 , C. Badiu6 , M.
Stoian1 , N. Cucu7 ;
1 2 University of Medicine &Pharmacy, Timisoara, Romania, National Institute
of Virusology, Bucharest, Romania, 3Romanian National Alliance of Rare Diseases,
Zalau, Romania, 4University of Medicine &Pharmacy, Iasi, Romania,
5 6 University of Medicine &Pharmacy, Cluj-Napoca, Romania, National Institute
of Endocrinology, Bucharest, Romania, 7University of Bucharest, Romania.
The purpose of this research is to establish the new hypotheses that
are responsible for Prader- Willi/Angelman syndromes. Our study has
as objectives the implementation of new molecular methods for genetic/epigenetic
investigation and establishment of national centers
with high expertise in approaching the two syndromes, the rare genetic
diseases that will develop educational reference and release centers.
We also aim to evolve efficient partnership with patients associations
through specific modalities like dialogue. The power of these associations
will propel the research, will inform the patients and will respond
to civil society questions. The study will establish international collaboration
and partnerships with researchers having similar scientific interest,
establish partnerships with PWS-Organizations, IPSWO, research
groups from each country aiming financial support on programs that
intend to stimulate collaboration between specialists, researchers and
nongovernmental organizations. Finally, we aim to develop a multidisciplinary
partnership, to build a common platform of activities for
new innovative solutions in respect to rare disease needs. These new
bridges of real and effective collaboration will ascertain on the national
level the setting up of a solid network comprising institutions with high
expertise in this domain, well connected to other national or international
research networks. The results of the research will be published
in well-known journals with high impact factors for enlargement of Romanian
research visibility in international domain of rare diseases. In
conclusion our project aims to implement in Romania the European
model of the network for rare diseases research, model adapted with
success in management of these diseases.