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

Genetic counselling, education, genetic services, and public policy
to the actors on the answers and behaviors involved in the counseling
process. Following actors training, the scenarios were evaluated
during the training of experts in human genetics becoming later the
trainers in this program. 36 human geneticists (7 genetic counseling
students, 20 genetic counselors, 4 fellows and 5 experts in human genetics)
participated in 3 training days. Each participant was performing
2-3 scenarios as active participant in the “hot seat” and observed 3-4
other scenarios. Training was videotaped for debriefing and additional
feedback was given by the actors.
Feedback: According to participants’ feedback questionnaires (using
1-4 Likert scale) most participants indicated that - the scenarios represented
realistic clinical cases (96%), training improved their understanding
the counselees’ needs (78%), improved their ability to give
information (63%), and increased the awareness to ethical issues
(58%). All participants recommended the use of SPs for further training
in genetic counseling.
Conclusions: In this study SPs based training scheme in genetic counseling
was developed and implemented. Feedback questionnaires
supported the content validity of the scenarios and the potential contribution
of such project in improving communication skills in this field.
P1334. Genetic counselling network in the Islamic Republic of
Iran(1997-2007)
S. M. Mirzamani, Z. Noparast, S. Akbaroghli, S. Farshidi;
Deputy for cultural affairs and Prevention of welfare organization, Tehran, Islamic
Republic of Iran.
Introduction & Aims: The importance of genetic and congenital factors
which causes many diseases & disabilities is obvious with a glance
at the facts and figures in the world. In Iran certain factors exist that
worsen the situation, such as:
High percentage of consanguinous marriages & etc. This comprehensive
program is planned with the aim of implementation of a genetic
counselling network. The General Goal is to decrease the incidence
and prevalence of genetic and congenital disabilities.
Material& Methods: For implementing this program the network
has gradually expanded with about 125 genetic counselling centers
throughout the country.
The first level are counseling centers in smaller cities(The staff are
a general physician along with a professional nurse, midwife or geneticist);
the intermediate level are counselling centers in the capital of
each province(The staff are a specialist, a general physician, and one
professional nurse, midwife, or geneticist).
The highest level is the „State Commission of Genetics“ in Tehran (The
staff are about 10 specialists).
The referral centers (The head of six Regional Offices) are located in
the capital of six provinces(The staff in the provincial referral center
are at least 2 specialists and 2 - 3 general physicians, with years of
experience).
Results: The network has gradually expanded since the year 1997,
and now we have 125 governmental and private genetic counselling
centers.These centers have been offering services to approximately
220,000 clients until now.
Conclusion: The genetic counselling network offers good quality, low
cost and easily available services to population at risk.
P1335. The evaluation of referral reasons for genetic counseling
and prenatal diagnosis at a tertiary genetic center: a Turkish
experience
O. Cogulu 1 , A. Alpman 1 , B. Durmaz 1 , E. Pariltay 2 , M. Akgul 2 , O. Kirbiyik 2 , E.
Ataman 2 , H. Akin 2 , F. Ozkinay 1 , C. Ozkinay 2 ;
1 Ege University, Faculty of Medicine, Department of Pediatrics, Izmir, Turkey,
2 Ege University, Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey.
Genetic counseling is the process which assists individuals in understanding
the nature of the genetic disorder, the probability of developing
or transmitting it and the ways how to deal with the condition. With
the advancements in human health field and particularly in genetics,
it has been possible for the scientists and for the public to be aware
of the mechanisms underlying genetic diseases. To what extend the
scientific and communal evolution affected the genetic counseling sessions
is the aim of this retrospective study.
We evaluated 5549 files of a tertiary genetic counseling and prenatal
diagnosis center retrospectively throughout 1998-2006 years in Turkey.
Among the subjects provided genetic counseling, the groups in-
cluded: those whose referral reason is related to prenatal diagnostic
tests, and those whose referral reason was other than prenatal diagnosis.
In the first group the most common referral reason was advanced
maternal age (45.01%), which is followed by high risk result on triple
test (22.99%), previous child with congenital malformations or single
gene disorder (9.57%), abnormal ultrasound finding (5.35%), parental
anxiety (4.81%), genetic disease in the family members (4.22%), the
presence of thalassemia trait in the parents (2.74%) and the others
(5.31%). In the second group the most common reason for referral was
recurrent miscarriages (32.99%), which is followed by previous child
with congenital malformations or single gene disorder (25.76%), infertility
(13.59%), unidentified genetic condition (9.82%), genetic disease
in the family members (6.13%), amenorrhea (5.89%), consanguinity
between couples (3.69%) and the presence of thalassemia trait in the
parents (2.13%).
P1336. A qualitative investigation of the impact of DMD on South
African families
K. Loggenberg, M. Futter, J. Greenberg;
Division of Human Genetics, Cape Town, South Africa.
South African parents who have a son with Duchenne Muscular Dystrophy
(DMD) are confronted with unique circumstances and barriers,
including poverty and minimal access to resources. The aim of this
study was to investigate the level of genetic knowledge of parents and
the impact of DMD on the family.
A qualitative approach was selected as it aims to portray the richness
and complexity of real-life events from the participants’ perspective.
Ten semi-structured qualitative interviews were conducted with parents
who had sons with DMD between the age of 8 and 15 years,
lived in the Cape Town metropolitan area and attended Red Cross War
Memorial Children’s Hospital (RCWMCH).
The level of understanding of the genetics of DMD was generally inadequate;
this was related to socioeconomic status, level of education
and influenced by cultural beliefs. Financial problems, difficulties with
public transport, lifting, inappropriate wheelchairs and home care of
the affected boy were among the most frequently mentioned problems
of the participants. Emotional problems related to having a son with
DMD were also mentioned.
The findings of this study will help healthcare professionals involved
in the care of boys with DMD to better understand some of the barriers
that South African parents face. Education and information are an
important form of support. Therefore, the service at RCWMCH may be
improved by having a dedicated genetic counsellor as a member of
the inter-disciplinary team involved with families in which a diagnosis
of DMD is made, to facilitate information giving and assist in providing
psychosocial support.
P1337. Prenatal genetic counselling from the women‘s point of
view
A. Baroncini 1 , L. Borghi 1,2 , S. Rosato 1,3 , P. Battaglia 1 , O. Calabrese 3 , S. Zucchini
4 , M. A. Nicoli 5 , E. Calzolari 3 ;
1 U.O.Genetica medica, AUSL di Imola, Italy, 2 Dip.di Psicologia, Università di
Parma, Italy, 3 U.O.Genetica medica, Azienda Ospedaliero-Universitaria di
Ferrara, Italy, 4 U.O. Ostetricia e Ginecologia, Ausl di Bologna, Italy, 5 Agenzia
Sanitaria Regionale, Bologna, Italy.
In Italy prenatal genetic counselling and diagnosis are part of the routine
antenatal care offered to women at increased risk of fetal chromosomal
anomalies. However, counseling methods (individual, in group,
use of a decision aid) and involved providers (medical geneticists,
obstetricians, nurse/midwives) vary widely among centres. The aim
of this study was to explore the pregnant women’s genetic counselling
experience and to compare the relative efficacy of different approaches
to genetic counseling. Interviewed participants, all women
of advanced maternal age (>= 35 years), can be divided in two main
groups according to ethnic origin: Italian and immigrants mainly from
Middle-East and Eastern-Europe. Overall, participants showed satisfaction
with the content of genetic counseling, while knowledge, coping
and state anxiety vary according to counseling methods and patients’
demographic and socio-economic variables. Most women expressed
a preference to be counselled by a nurse/midwive than by a “more
technical” medical geneticist. Increased anxiety levels were reported
by women experiencing a counselling approach with the administration
of a pre-counselling genetic questionnaire.
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