2008 Barcelona - European Society of Human Genetics

EMPAG Posters
this group of men with decision support, and we anticipate that men
will report better understanding of different risk management strategies
and increased consumer satisfaction and will be more involved
in decision-making .
EP12. Family dynamics and genetic
conditions
EP12.1
Perceived impact of BRCA1/2 testing on familial relationships
and association with psychological distress
M. Dorval, K. Bouchard, E. Maunsell, S. Camden, J. Simard;
Université Laval, Québec, QC, Canada.
Objectives: This study describes the perceived impact of BRCA1/2
testing on relationships with first degree relatives. It also assesses
whether experiencing a negative impact on relationships is associated
with psychological distress and whether a positive impact is protective
against distress .
Methods: A total of 636 French-Canadian women from 236 families,
who underwent BRCA1/2 testing in the context of the INHERIT BRCAs
program between August 1998 and July 2004, were enrolled . Among
them, 44% had already had cancer; 131 women were found to be mutation
carriers, 172 non-carriers, and 333 had an inconclusive result .
Questionnaires completed at pre-test and then at 1, 12, and 36 months
post-disclosure were used to assess the perceived impact of testing on
family relationships and psychological distress .
Results: Three years post-disclosure, 11% of women perceived that
testing has a positive impact on their familial relationship compared to
only 3% who perceived that the impact was negative . Among mutation
carriers, these proportions reach 16% and 7%, respectively . After controlling
for a range of socio-demographic, medical, and psychosocial
factors, experiencing a negative impact on relationships with a firstdegree
relative was significantly associated with long-term distress
(p=0 .04) . However, the perception that genetic testing had a positive
impact on relationships was not protective against distress .
Conclusions: Although the perception that genetic testing had a negative
impact on family relationships is associated with long-term distress,
this is quite infrequent . More research is needed to better understand
how the impact of BRCA1/2 testing on family dynamics may
affect individuals’ quality of life .
EP12.2
social intervention in the context of presymptomatic testing for
late-onset neurological disorders
N. Oliveira, J. Pinto-Basto, J. Sequeiros;
IBMC, Porto, Portugal.
These diseases have several social and psychological implications
(structural, processing, cognitive, emotional changes) . Social intervention
should be based in the systemic concept: good balance between
psychodynamics demands of illness and family dynamics and their
resources is determinant for the adaptation process and confrontation
with the illness .
In our protocol of presymptomatic testing, the social worker assesses
two groups of risk factors: (1) vulnerability centred on the subject (the
genetic risk, personality resources, cognitive resources, etc .); and (2)
vulnerability connected with inadequacy of the environment (familial
structure, separation or death of a parent, chronic disease, economical
fragility/poverty, social isolation, etc .) .
Social Intervention is carried out through (1) exchanges holding emotional
positive attitudes; (2) (formal or informal) counselling, allowing
the establishment of interactions that have the aim of sharing information
on the disease; (3) material or instrumental support; (4) technical
support or of services; and (5) access to new contacts . In terms of
social intervention, several people have also been helped with waivers
for fees in health care (exemption from fees, medication, technical
aids) (23); in the process of their incapacity retirement (10), professional
conversion or changes (5), in the process for fiscal (IRS) benefits
(3), and help finding a nursing home, continued care unit or care
at home (6) .
Social intervention, in presymptomatic testing for late-onset, so far incurable,
neurological diseases, has the aim to help the persons at-risk
and their family to keep balance and functioning, when confronted with
crises, such as test results or beginning of symptoms .
EP12.3
susceptibility to type 2 diabetes: perceptions and family
communication regarding inheritance and primary prevention
S. C. M. van Esch 1,2 , F. J. Snoek 1,2 , M. C. Cornel 3,2 ;
1 VU University medical center, dept. of Medical Psychology, Amsterdam, The
Netherlands, 2 VU University medical center, EMGO Institute, Amsterdam, The
Netherlands, 3 VU University medical center, dept. of Clinical Genetics, Amsterdam,
The Netherlands.
Type 2 diabetes is a multi factorial disease, which means diabetes
onset is triggered by interaction of (multiple) genes and environmental
factors . Family history may serve as a good predictor of diabetes
risk . People at risk can delay or possibly prevent diabetes by following
a healthy lifestyle . We wonder whether this information is known by
patients and whether they (are able or willing to) share it with their
relatives .
544 People diagnosed with type 2 diabetes filled in a questionnaire.
It appears in most families talking about diabetes is not taboo . Most
respondents indicate that ‘sometimes’ diabetes is discussed; mostly
initiated by the patients themselves . Subjects include mainly diabetes
related problems; less developing or preventing diabetes onset .
Approximately half of the respondents knew about the inheritable character
of diabetes; half of the group prefers more information provided
by professionals . A majority agrees on the potential role of patients
informing their family; half of the group actually intends to do so . They
indicated they knew what, how, and whom to tell . Approximately half of
the respondents believes patients should be coached by health professionals
. In the presentation, relations between demographic variables
(including ethnicity), diabetes related factors (including illness perceptions
and family history), knowledge on inheritance and primary prevention,
and family communication will be outlined .
In our opinion, the results may contribute to more targeted and effective
health promotion strategies in diabetes prevention programs .
However, we experienced quite different reactions, mostly in non-responders,
discussing health issues in relation to family matters .
EP13. Living with genetic disease
EP13.1
The long-term information and support needs of BRCA1/2
mutation carriers
V. L. Hunt1 , R. Iredale2 ;
1 2 Peninsula Clinical Genetics Service, Exeter, United Kingdom, Institute of
Medical Genetics, Cardiff, United Kingdom.
Genetic testing for inherited breast/ovarian cancer can have far reaching
implications, both for the individual and their family . Research to
date has mainly focused on the short-term impact of testing . The aims
of this study were to explore the long-term impact of being identified
as a BRCA1/2 mutation carrier, investigate the information and support
needs of this group and explore best how cancer genetics services can
meet these needs .
Data was gathered using semi-structured interviews with women who
had undergone genetic testing in Wales and had received a mutation
positive result . The interview transcripts were thematically analysed to
gain insight into participant’s thoughts and experiences .
For these women their ‘genetic journey’ did not end upon receipt of
their test results. The findings suggest that BRCA mutation carriers
may have specific needs for information and support that extend beyond
the genetic testing process and that these needs may vary over
time. A number of real or perceived barriers were identified which prevented
participants from accessing support and information . Participants
made valuable suggestions as to how cancer genetics services
could address these issues .
It is likely that no single intervention will be effective in addressing
the needs of this heterogeneous group . Further large scale research
is needed to investigate how best to target resources to meet client
needs . This study explores the views of this group, highlighting issues
that are important to them. The findings emphasise the fact that longterm
user involvement is essential in the planning and optimising of
service provision .