2008 Barcelona - European Society of Human Genetics

EMPAG Posters
ics, Nicosia, Cyprus, 4 Bank of Cyprus Oncology Center, Nicosia, Cyprus.
Cancer Genetic Counselling in Cyprus was established recently .
Breast cancer patients, account for the majority of referrals at present .
They are referred to the Cancer Genetics Clinic based on age of diagnosis,
type of cancer and family history . Referred patients are offered
two counselling appointments to be appropriately informed of the risks,
benefits, and limitations prior to decision making for testing. Results
are communicated through a further appointment which is followed by
other counselling appointments according to the needs of the patients
and their family .
In 2007, 103 breast cancer patients and healthy relatives at risk were
seen at the CGCC . We analyzed the variability within this patient group
in terms of demographic information .
The 101 female and 2 male patients were mainly referred by their oncologists
. In terms of age, 4 were < 30, 42 were 30-39, 29 were 40-49
and 28 were > 50 yrs . 97 were Greek Cypriot, 1 was Turkish Cypriot
and 5 were of other ethnic backgrounds . Genetic counselling for cancer
predisposition genes was in general well appreciated . Uptake of
genetic testing by patients and their family members were diverse .
These and other data are being analyzed currently and will be reported
in this poster .
EP10.06
the increased incidence of breast cancer makes obligatory the
genetic counseling
H. Vaida1 , I. Tomulescu2 , L. Filimon1 , G. Roseanu1 , M. Marian1 ;
1 2 Faculty of Socio-Human Sciences, Oradea, Romania, Faculty of Sciences,
Oradea, Romania.
In our days there are more and more cases of different cancer types .
We can mention many causes responsible for the appearance of
cancer: environmental, chemical, physical and biological factors . Of
course, in many cases the inheritance has an important role in appearance
of different types of cancer . Our study is about the dynamics of
cancer in our county during the 1990-1999 period and the necessity of
genetic counseling of the persons who have cancer affected relatives .
We analysed the data from Medical Direction of Bihor county in mentioned
period . We made a statistical study about the incidence of breast
cancer in our county . Also we show the stages for genetic counseling
in two types of groups (one already breast cancer affected and one
with relatives affected) .
We studied the incidence of breast cancer in feminine population . Also,
we studied the area of proceeding and type of cancer . The stages in
genetic counseling in breast cancer must include: family and medical
history, hereditary vs . sporadic cancer, genes associated with cancer,
risk assessment, testing options, test results, screening options, possible
prevention options and psychosocial assessment .
The breast cancer has an increased incidence in Bihor county . The
incidence depends in some types of cancer on patient sort (masculine
or feminine), age and proceeding area . Because of these, genetic
counseling is very important in prevention of this type of cancer .
EP10.07
communicating genetic information: learning from patient
experiences and preferences
C. L. Bennett 1 , S. Burke 2,1 , J. Bedward 2 , P. Farndon 1 ;
1 NHS National Genetics Education and Development Centre, Birmingham,
United Kingdom, 2 Centre for Research in Medical and Dental Education, Birmingham,
United Kingdom.
Where do patients get information about the genetic basis of their condition?
What healthcare professional groups outside specialist genetics
services provide genetic information and what kinds of information are
given? How would patients prefer to receive such information? A qualitative
study was conducted in the UK in 2006 to explore these issues,
through telephone interviews with 27 people with or at risk of genetic
conditions and parents of children affected by a genetic condition .
The results highlight the range of healthcare professionals who may be
approached by patients seeking information and indicate a perceived
need for greater awareness of genetic aspects of conditions amongst
healthcare professionals . Patients acknowledged that healthcare professionals
cannot be familiar with all genetic conditions in detail, but
felt that identifying and referring patients appropriately, and acknowledging
professional limitations of expertise, were important .
Patients gave us their views on the knowledge, skills and attitudes
which they believed would enhance care by non-genetics professionals
. They valued certain attitudes: providing genetic information
without judgement; being mindful of the use of terminology; and being
aware of the emotional impact of genetic information on individuals
and the wider family . Tailoring the information provided to individual
preferences and informing people where they can access further information
were also considered important .
These results have implications for the education and practice of all
health professionals involved in providing genetic information . They
are being used in the UK to raise health professionals’ awareness of
genetics and to inform the integration of genetics into professional
training .
EP10.08
Evaluating service Development: a community based genetic
service for consanguineous families of south Asian origin
N. Khan 1 , R. Macleod 1 , J. Benson 2 , V. Hollings 3 , H. Kingston 1 ;
1 Regional Genetics Service and Medical Genetics research Group, Manchester,
United Kingdom, 2 East lancashire Teaching Hospital, Blackburn, United Kingdom,
3 Blackburn with Darwen Primary Care Trust, Blackburn, United Kingdom.
A UK Department of Health service development project developed
community based, hospital linked genetic services for Asian families
affected by autosomal recessive conditions . The 2 year pilot project
(2005-2007) took place in Blackburn a town in the North of England
where 20 .4% of the population are of Asian Origin, 50-60% marriages
are consanguineous and there is a high incidence of autosomal recessive
disorders . The aim was to provide a culturally sensitive service by
an Asian speaking genetic counsellor . An evaluation determined how
genetic information was understood, received and transmitted within
these families and factors that affected decisions about genetic testing
and sharing of information .
A total of 42 families affected by a range of autosomal recessive disorders
were included . On average 5 extended family members were
seen from each index family referred . Uptake of the service was 95%
with positive feedback from families .
Evaluation Key points:
• 97% of families found the service useful and informative .
• The number of requests for prenatal diagnosis and carrier testing
demonstrates utility .
• Families identified language and a lack of understanding about Genetic
services as previous barriers to accessing services .
Key outputs:
• development of protocols/care pathways to access appropriate family
members .
• establishment of a community based hospital linked genetic service .
• contact with families previously unknown to clinical genetics service .
The paper will highlight families’ views and feedback on the service
and make recommendations for future practice .
EP10.09
Attributions as perdictors for level of functioning and
depression in cancer patients
M. Marian1 , G. Roseanu1 , I. Tomulescu2 ;
1 2 Faculty of Socio-Human Sciences, Oradea, Romania, Faculty of Sciences,
Oradea, Romania.
In this study we aimed at analyzing weather a negative attributional
style is an efficient predictor, for both the male and female patient’s
future evolution, depending on their stage of illness and type of diagnosis
. Our main objective was to uncover changes and reactions at
the psychological level of the patients during their stay at the oncology
ward or during medical interventions . By interviewing the patients
(before we administered specific instruments based on the learned
helplessness theory, such as the Attributional Style Questionnaire) we
gathered information regarding their level of functioning which led to
the formation of three independent groups .
Patients diagnosed with cancer (overall 120 subjects) who did not show
any symptoms of mental disturbance, 67 females and 53 males who
were diagnosed with cancer, classified as having stage one and two,
and 36 stage three and four 84 . A total of 79 patients suffering from
depression were included in the study, 34 males and 45 females .
Regression analysis showed that the negative attributional style is an
efficient predictor for depression in the case of patients suffering from
cancer of the digestive tube . The negative attributional style is a very