2008 Barcelona - European Society of Human Genetics

EMPAG Posters 0
the family, relatives approached individuals in the generation of the
deceased man, regardless of their risk status, who were then responsible
for informing younger relatives . Most people informed by a relative
did not seek genetic counselling . The informing relative may not
have sufficient authority for the information either to be taken seriously,
or to challenge individual constructions about the aetiology of cancer .
This impeded information transmission to further at risk relatives . Most
participants knew of relatives who had not been told about their cancer
risk .
Research Implications: When recruiting participants to genetics research
studies, consideration should be given to requesting contact
details of specific relatives, in the event of clinically significant results
becoming available post mortem.
Clinical Implications: The limited efficiency of information transfer
among relatives is discussed in the context of a potential role for genetics
services in contacting at risk relatives directly .
EP07.2
Exploring family communication after receipt of BRCA1/2
results: Early data from family cases
C. Jacobs 1 , M. Wallace 2 , J. Smith 3 , S. Michie 2 ;
1 Guy’s and St Thomas’ NHS Foundation Trust, London, United Kingdom, 2 University
College London, Department of Psychology, London, United Kingdom,
3 Birkbeck College, Department of Psychology, London, United Kingdom.
Research investigating family communication about test results for the
BRCA1/2 genes has largely been quantitative or limited to investigation
with individuals undergoing testing . Little is known about how test
information is communicated to other family members or received by
them . This study examines how results of BRCA1/2 gene mutations
are received by affected index patients and communicated through
the family. The study examines the flow of information from clinician
to patient and on to relatives; factors influencing communication; the
impact of communication on cognition, emotion, behaviour and family
relationships; and decision-making regarding risk management .
Results consultations with participants are audio-recorded . One month
later, interviews with participants explore their understanding of, and
response to, the test result, and the experience of communicating this
to first-degree relatives. Similar interviews are then conducted with
relatives recruited by the index patients, with whom results have been
shared . All interviews are recorded, transcribed and analysed .
Early data from family cases will be presented to illustrate the factors
influencing family communication, and the impact of communication on
risk perception, emotional state, behaviour and family relationships .
The value of these findings both clinically and scientifically will be discussed
.
EP07.3
Active Non-Disclosure in the Familial cancer setting: A case
Report
M. K. Kentwell, M. Harris, G. Lindemann;
Familial Cancer Centre, Royal Melbourne Hospital, Parkville, Australia.
A 77 year old woman unaffected by cancer was shown to carry the
family specific BRCA2 mutation identified in her sister. At the results
disclosure appointment, the client stated she would not inform her four
daughters, aged in their 30s and 40s of her positive result .
This presentation will analyse the client and genetic counsellor’s perspective,
and the interaction between the two . Firstly, the reasons why
the client elected not to share her results with her daughters will be
explored . These include perception about effectiveness of risk management,
family relationships and communication, perceived receptivity
of the daughters regarding genetic information, judgement of
how the daughters would cope with the knowledge of their mother’s
BRCA2 mutation carrier status, the perceived harm which may arise
from disclosure and personal belief in the daughters’ right not to know .
Secondly, from the Genetic Counsellor’s perspective, the counselling
strategies utilised during and following the disclosure appointment will
be outlined. In addition, the discussion will reflect on the challenges
encountered in counselling the client, and the impact of a consultation
involving non-disclosure on the Genetic Counsellor . The presentation
will also describe the self-reflection which occurred in attempting to
define the Genetic Counsellor’s role in this case, and the ethical questions
the Genetic Counsellor asked herself around the issue of nondisclosure
.
EP07.4
the psychological impact of genetic testing of symptomatic
patients - A literature review
F. Vansenne, P. M. M. Bossuyt, C. A. J. M. de Borgie;
Academic Medical Centre, Amsterdam, The Netherlands.
At present more and more genetic risk factors are identified to explain
the development of common disease . As a consequence an increasing
number of genetic tests are becoming available to clinicians . To
guide the appropriate use and clinical utility of genetic tests it is important
to consider the psychological impact of testing . In this study we
performed a literature review to evaluate the psychological impact of
genetic testing and its measurement in symptomatic patients .
We completed a systematic literature search from 1966 to april 2007 .
Relevant studies were identified from searches of Medline, Embase
and Psychinfo databases . Additionally we searched for recent overview
articles and relevant reports and in the Health Technology Assessment
and Dare database . Prospective studies, evaluating genetic
testing in symptomatic patients (n≥20) and using at least one standardized
psychological outcome were included and evaluated .
In total 1233 studies were identified. After abstraction of information 17
studies were eligible and independently assessed . In half of the studies
all participants were female, diagnosed with breast and/or ovarian
cancer . Socio-demographics were comparable between the studies .
Methodology used to measure the impact of genetic testing, protocols,
and psychological outcome definitions differed substantially among
the reviewed studies .
Little research has been conducted to support the feasibility on when
and how to evaluate the psychosocial impact of genetic testing in
symptomatic patients . Because of discordant results and short-term
follow-up it is uncertain whether patients experience long-term negative
psychosocial consequences of genetic testing . This important
clinical evaluation question should be addressed in future research .
EP08. Predictive testing: process and
impact
EP08.1
Decision making for young adults in predictive genetic testing
K. M. Mattingley1 , G. Betts2 , M. Freckmann1 , R. Sachdev1 ;
1 2 Clinical Genetics, St George Hospital, Sydney, Australia, Sydney Children’s
Hospital, Sydney, Australia.
In recent years a number of articles have discussed the predictive testing
process in minors and young adults . A young individual’s ability to
make an informed and responsible decision regarding predictive testing
and the potential harm this may cause has been a contentious issue . A
more recent view (1) argues that assessment of the individual’s maturity
of judgement in the decision making process, should be a consideration
in predictive genetic testing protocols for minors . Should this not also
be applied to young adults? Not all adults by the nature of their age are
‘mature’ in their decision making ability . Cognitive but also psychosocial
factors influence decision making whether in adolescence or adulthood.
Legally ‘mature’ by age may not mean cognitive or psychosocial maturity
and can result in immature decision making . Should we then deny young
adults who don’t have a mature outlook access to testing? The case of
three sisters, 18 to 22 years of age, at 50% risk for Huntington disease
and their journey through the predictive testing process is presented and
discussed .
1 . Richards, FH . (2006) Maturity of judgement in decision making for
predictive testing for nontreatable adult-onset neurogenetic conditions: a
case against predictive testing of minors . Clinical Genetics 70: 396-401 .
EP08.2
Accurately assessing uptake of predictive testing for Huntington
disease.
R. J. Tassicker;
Genetic Health Services Victoria, Parkville, Australia.
The current literature fails to provide an accurate calculation for the
uptake of predictive testing for Huntington disease. Uptake figures are
reported from several centres based on the total number of people
who have undertaken predictive testing as a percentage of those estimated
to be at 50% risk in their catchment area . This method produced