2008 Barcelona - European Society of Human Genetics

EMPAG Posters
A group of 15 individuals who identify themselves as Arabic-Australian
were recruited through two Sydney familial cancer services . Ethnographic
interviews explored themes such as beliefs about inherited illnesses
including inherited susceptibility to cancer, cultural beliefs and
practices when communicating within families about inherited cancers
and the impact, if any, of attending a cancer genetics service on these
beliefs and practices . Thematic analysis of interview summaries identified
common outcomes, informing the development of an explanatory
model for inherited susceptibility to cancer in this sample .
The cultural backgrounds of the 7 males and 8 females interviewed
were Egyptian, Iraqi, Lebanese and Turkish, and ages ranged from
29 to 82 years (median age 54) . Participants generally were highly acculturated
as measured by their English language proficiency and had
a good understanding of the genetic basis of the cancer in their family
. There was little or no discrepency between the individuals’ beliefs
about inherited cancer and the model of clinical practice utilised in the
clinics attended .
People of an Arabic-Australian background are one of the fastest growing
ethnic groups in Australia . It is therefore important to document
their beliefs to ensure they are compatible with the current models of
practice in cancer genetics clinics .
A better understanding and awareness of cultural beliefs and potential
areas of disparity will guide optimal cancer genetics service provision .
More research is needed to confirm reported beliefs of non-attending
family members .
EP06.2
the public understanding of newborn screening
B. Wieser;
IFZ, Graz, Austria.
Neonatal screening for genetic disorders is a routine practice for many
decades . In particular, screening for PKU has become a standard procedure
. However, internationally the way by which neonatal screening
is carried out varies notably . Especially for disorders where treatment
options are not as straightforward as they are for PKU, screening may
be offered, but only on voluntary basis . Austria has decided to expand
its programme significantly in 2002. The introduction of tandem-massspectrometry
plays a crucial role in this regard . With this technology
it became possible to screen for 30 inherited disorders . All together
the Austrian neonatal screening programme comprises as many as
23 conditions .
In this paper I will especially address the issue of the public understanding
of newborn screening . I will do so by drawing on the Wilson
and Jungner guidelines as developed for the WHO. Specifically I will
address the 6 th principle: “The test should be acceptable to the population”
(cf . Dhondt 2007) . Taking this requirement seriously this raises
important issues of lay understanding of genetic disorders and the way
in which an expansion of newborn screening can be perceived . The
issue will be contextualised into the historical context in which the Austrian
newborn screening programme has been initiated . I will also contrast
the Austrian case from other European countries in order to point
out differences of the way in which a public understanding of newborn
screening can be facilitated .
EP06.3
Why do intenders not behave: exploring the gap between the
intention to take part in preconceptional carrierscreening for
cystic fibrosis and/or haemoglobinopathies and not doing so
A. C. Plass1,2 , P. Lakeman1 , J. Wenink1,2 , M. C. Cornel1,2 ;
1 2 VU University medical center, Amsterdam, The Netherlands, EMGO-institute,
Amsterdam, The Netherlands.
The aim of this study was to explore why couples who intended to participate
in a preconceptional carrierscreening for cystic fibrosis and/or
haemoglobinopathies (N=142), did not take part in the test after all
(N=66), particularly beyond reasons like of lack of time .
All 66 couples were called up and asked whether they were willing to
answer a few questions directly or some time later at their home about
their non-participation in the test . All phone calls and face-to-face interviews
were recorded and analyzed using the IPA-method .
41 couples were contactable . 13 couples no longer belonged to the
research target group of couples that were planning a pregnancy in
the future, and were excluded . 20 couples agreed to a telephone-interview
and 5 others were interviewed at their home . The reason most
frequently mentioned for not taking part in the test after all was ‘lack of
time’. But, in asking about social influence it appeared that sometimes
parents, other family members, friends or GPs had expressed their
doubts about the couple’s intention to take part in such a test .
Even though lack of time was the most frequently mentioned reason
for not taking part in a preconception carrier-screening test after clearly
having expressed the intention to do so, the negative input of the social
environment might have played a major role in not carrying out one’s
intentions . Most couples were surprised by the negative reactions of
their social environment and reevaluated test participation as being
less important .
EP06.4
Attitudes towards thalassaemia carrier testing in saudi arabis
H. Y. Alabdulwahed;
Dhahran Health Center, Saudi Aramco, Dammam, Saudi Arabia.
Thalassaemia is a life limiting condition, characterised by severe anaemia
which requires frequent blood transfusions . It is a global health
problem, and is prevalent in countries with a history of malaria outbreak
. Thalassaemia is a recessively inherited condition, i .e . both parents
have to carry the thalassaemia gene in order to have affected
children . Carriers do not show any symptoms of thalassaemia, and
a blood test is necessary to identify carrier status . There are many
mass public screening programmes throughout the world which aim
to control and prevent this condition . In 2004, Saudi Arabia started a
compulsory premarital screening programme to identify thalassaemia
carriers, along with carriers of another haemoglobinopathy (sickle cell
anaemia) . To date no attempt has been made to investigate the Saudi
people’s thoughts and feelings towards the screening . This qualitative
study used a semi-structured interview guide and was designed to
explore the attitude of Saudis who have undergone mandatory screening
for thalassaemia . Sixteen individuals participated in the study . The
primary findings were that: participants accepted and supported the
premarital screening programme; their motivations to undergo testing
included: having healthy children, reducing the incidence of hereditary
diseases in the country, and removing any risk in entering an arranged
(usually consanguineous) marriage; the majority of participants lacked
knowledge about screening; and many misconceptions and negative
feelings towards screening emerged . The main conclusion is that there
is a pressing need to increase public awareness about screening advantages
and, more importantly, to educate individuals undergoing
carrier testing .
EP07. Disclosure of test results
(professionals/patients/families/third
parties)
EP07.1
communicating genetics research results to families: problems
arising when the patient participant is deceased
L. Ormondroyd 1 , C. Moynihan 1 , A. Ardern-Jones 2 , R. Eeles 3 , C. Foster 4 , S.
Davolls 1 , M. Watson 1 ;
1 Psychology Research Group, Institute of Cancer Research, Sutton, United
Kingdom, 2 Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London/Sutton,
United Kingdom, 3 Translational Cancer Genetics Team and Cancer
Genetics Unit, Royal Marsden NHS Foundation Trust, London/Sutton, United
Kingdom, 4 Macmillan Research Unit, School of Nursing and Midwifery, University
of Sounthampton, Southampton, United Kingdom.
Purpose: This study explores communication within families of clinically
significant genetics research results, after the death of the patient
participant . BRCA2 mutations were found in several men after their
death from prostate cancer . Spouses were given the results in a genetic
counselling session and asked to inform relatives .
Method: Cross sectional, qualitative exploratory study . Interviews with
13 relatives, including informers and recipients of the information, were
analysed using interpretative phenomenological analysis .
Results: Dissemination was hampered when communication channels
between relatives were limited, because of family rifts or socially distant
or problematic relationships . When informing other branches of