2008 Barcelona - European Society of Human Genetics

EMPAG Posters
Objective . GeneBanC is an acronym for the research project Genetic
bio- and dataBanking: Confidentiality and protection of data. Towards
a European harmonization and policy. This E .U .-funded research project
that has been funded by the European Commission and aims to investigate
the ethical, legal and social issues of three types of biobanks:
classical banking, population banking and forensic DNA databases .
Method . The workload has been split up in various workpackages,
studying respectively (a) the issue of privacy and confidentiality in
biobanking; (b) the existing regulatory framework of biobanks across
the E .U . and the regulation regarding the establishment, management
and functioning of biobanks; (c) forensic genetic databases; (d) governance
aspects of biobanks .
Expected results . It is expected that the results obtained within the different
objectives described above will be of great use for the development
of policy oriented recommendations concerning the organisation
and management of biobanks . Proposals will be elaborated in order to
reach where appropriate a harmonized regulatory framework across
the European Union .
EP14.03
support groups for women carrying a BRCA or BRCA
mutation : a first experience.
K. Baudry-Samb1 , P. Pujol1 , C. Laurent1 , I. Coupier1,2 ;
1 2 CHU Arnaud de Villeneuve, Montpellier, France, CRLC Val d’Aurelle, Montpellier,
France.
During consultations we felt that women carrying a BRCA1 or BRCA2
mutation had a strong desire to share their experience . We decided to
set up a support group for them .
The aim of this support group was to give the patients a place where
each individual could be heard, and where experiences and information
could be shared .
53 women patients were invited by mail, and 8 of them decided to
participate . They all had a personal history of breast and/or ovarian
cancer . Six had undergone preventive surgery .
We chose a non-directive method, allowing the patients to decide
what topic was to be addressed at each meeting . We met every 1 .5
month, during 1 hour, for 7 months (5 meetings) . Meetings were led
by a psychologist, a geneticist and a clinical research assistant . The
themes addressed were: cancer (family history, isolation, relationships
with closed ones, the body image, treatment, surgery, feminity), loss
(of self, of a part of one-self, of a loved one), pre-symptom analysis,
maternity, preventive surgery, and medical questions .
Our goal was met . Indeed, a positive dynamic was present throughout
the meetings . Most of the themes of concern in this particular patient
population were addressed . The patients’ feedback was very positive .
It allowed some of them who could not talk at home to share their difficulties,
and others to begin a dialog with their closed ones.
This year, we started 3 new groups, involving 22 patients, based on
Spiegel’s supportive-expressive method .
EP14.04
Dying with a family history of cancer: A phenomenological study
A. K. Lillie;
University of Birmingham, Birmingham, United Kingdom.
There has been widespread media coverage about the potential for
an inherited predisposition to cancer in Britain . This study aimed to
describe how this was affecting care needs of palliative care patients .
Data was collected through recorded, semi-structured interviews with
twelve patients with advanced cancer . Purposive sampling ensured
that participants had been predeceased by at least one first degree
relative with cancer . Data was coded using an iterative approach into
themes that arose from the participants experiences . Van Manen’s
(1990) schema of existential analysis was then used to identify the
relationship between the themes under investigation .
This study showed that patients were dying with concerns about the
implications of their disease for their families . Concerns for children
were widespread and existed in patients who did not think that their
own cancer was associated with an inherited susceptibility, patients
who had been informed that they were not at high risk of familial disease
and in patients who had not discussed their anxieties before .
The participants’ experience of dying was affected by previous death
within the family: especially by the deaths of relatives who had died at
a younger age than normal . It changed the way the participants com-
municated about cancer and affected family cohesion and hence the
support available to participants . It also increased their awareness of
their dying trajectory, altering the way they coped with the disease .
This study show that there are complex challenges for health care professionals
when supporting dying patients worried about their family
history of cancer .
EP14.05
translating research into practice: Health care professionals’
and researchers’ understanding of cancer genetics activities in
the UK
N. Hallowell 1 , S. Cooke 1 , G. Crawford 2 , M. Parker 3 , A. Lucassen 2 ;
1 University of Edinburgh, Edinburgh, United Kingdom, 2 University of Southampton,
Southampton, United Kingdom, 3 University of Oxford, Oxford, United
Kingdom.
DNA-testing for hereditary cancers and high risk cancer surveillance
in the UK takes place either as part of research protocols (and thus,
requires ethical approval) or is offered as an NHS clinical service . The
route chosen may depend on a range of factors . This multidisciplinary
project investigates healthcare professionals’, patients’ and regulators/
other stakeholders’ understandings of cancer genetics activities within
the UK . It looks at how these different groups conceive of research and
clinical practice, and aims to identify any perceived ambiguities and
practical and/or ethical problems that are generated by these activities
for the different actors . Semi-structured interviews have been carried
out with healthcare professionals and researchers (HCPs) (n= 40) who
are involved in cancer genetics research and/or provide a clinical cancer
genetics service . The interviews suggest that research and clinical
practice are perceived as standing in a complex relationship with
each other . In some cases our respondents made strenuous efforts to
distinguish these activities, while at other points in their interview they
struggled to identify differences between them . The boundary between
research and clinical practice within cancer genetics, could thus, be
characterised as ambiguous, flexible, permeable and a permanently
shifting phenomenon . The strategies that healthcare professionals use
to distinguish these activities are described .
EP14.06
Evaluating the impact of a self-help coping intervention: a study
outline of the cARiAD trial.
H. Jones 1 , C. Phelps 1 , P. Bennett 2 , K. Brain 1 , K. Hood 3 , J. Gray 4 , A. Murray 5 ;
1 Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff,
United Kingdom, 2 Nursing, Health and Social Care Research Centre; Cardiff
University, Cardiff, United Kingdom, 3 Centre for Health Sciences, School of
Medicine, Cardiff University, Cardiff, United Kingdom, 4 Wales Centre for Health,
Cardiff, United Kingdom, 5 Institute of Medical Genetics, University Hospital of
Wales, Cardiff, Cardiff, United Kingdom.
Background Around a third of individuals undergoing genetic risk assessment
report high levels of distress and are likely to benefit from increased
psychological support. A self-help leaflet has been developed,
based upon coping theory, to help individuals cope with unwanted worries
whilst waiting for genetic information . The intervention encourages
individuals to restrict consideration of the issues related to their risk
for a set time each day, and to actively distract from intrusive thoughts
at all other times . The CARIAD trial is evaluating the psychological
impact of this intervention .
Study aims 1) To evaluate the short- and longer-term impact of the
intervention on levels of distress at key stages of the assessment
process 2) To explore the impact of the intervention on emotional responses
and coping .
Design Recruitment commenced in September 2007 . Over a nine
month period 1,000 male and female referrals into the Cancer Genetics
Service for Wales will be pre-randomised to receive either the
coping leaflet or standard care and asked to complete a postal questionnaire
at 3 time points: upon referral, whilst waiting for genetic risk
information (4 weeks post-referral) and one month post-risk .
Outcomes The primary outcome measure is the level of situation-specific
distress over time, as measured by the Impact of Event Scale.
Secondary outcomes and potential moderators include positive and
negative affect, risk understanding, illness perceptions, and coping .
The intervention may also be appropriate during other periods of waiting
and uncertainty such as undergoing predictive or prenatal genetic
testing or awaiting screening outcomes .