2008 Barcelona - European Society of Human Genetics

EMPAG Posters
Results: Preliminary results of this study, which is still ongoing, will be
presented . It is anticipated from our clinical experience that emotional/
character changes of the partner are most difficult to cope with, since
the partner often becomes a “different” person to live with . Changes in
personal life include mainly changes in the role model in the partner
relationship . Healthy partners often experience the daily care and the
material consequences of Huntington’s disease as a major burden for
the future .
EP13.7
Psychosocial aspects of living with Long Qt syndrome. A
qualitative study
J. Andersen 1,2 , N. Oyen 1,3 , C. Bjorvatn 1,3 , E. Gjengedal 1 ;
1 Department of Public Health and Primary Health Care, University of Bergen,
Bergen, Norway, 2 Norwegian Porphyria Center, Haukeland University Hospital,
Bergen, Norway, 3 Center for Medical Genetics and Molecular Medicine, Haukeland
University Hospital, Bergen, Norway.
Background: Long QT syndrome (LQTS) is a genetic disorder characterized
by prolongation of the QT interval on the electrocardiogram,
potentially leading to life-threatening arrhythmias and increased risk of
sudden death . In Norway LQTS patients and their families are offered
diagnostic or predictive genetic testing . Norwegian legislation states
that genetic counseling is mandatory in connection with genetic testing
of healthy individuals .
Purpose: The purpose of this qualitative study was to
- Investigate the psychosocial aspects of living with LQTS
- Describe LQTS patients’ experiences with healthcare services .
Material and methods: In-depth interviews with seven Norwegian
adults tested for long QT genetic mutations, was conducted . Four participants
had an implantable cardiac defibrillator (ICD).
Results: Participants experienced worries and limitations in daily life
and it was a general wish among them to be able to talk to someone
with the same condition . Their main concern was not for their own
health but for their children or grandchildren . Having an ICD was experienced
as an additional safety but it could also cause social embarrassment
and anxiety . Early and gradually acquired knowledge of
the syndrome was reported as an advantage . Healthcare providers’
minimal knowledge of LQTS resulted in uncertainty, misinformation,
and even wrong advice on treatment .
Conclusion: Knowledge of the challenges met by this patient group
is important in order to provide adequate genetic counseling . Further
investigations into the psychosocial aspects of LQTS are desirable .
EP13.8
Unmet information and support needs amongst individuals
affected by one of two rare cancer syndromes: mEN2A and VHL
N. A. Kasparian 1,2 , A. Rutstein 3,2 , B. Meiser 3,2 , J. Koehler 4 , J. Tyler 4 , K. Tucker 4 ;
1 School of Women’s and Children’s Health, University of New South Wales,
Kensington, NSW, Australia, Kensington, Australia, 2 Department of Medical
Oncology, Prince of Wales Hospital, Randwick, Australia, 3 Prince of Wales
Clinical School, University of New South Wales, Kensington, NSW, Australia,
Kensington, Australia, 4 Hereditary Cancer Clinic, Prince of Wales Hospital,
Randwick, Australia.
Multiple endocrine neoplasia type 2A (MEN2A) and von Hippel Lindau
syndrome (VHL) are rare, inherited, early onset cancer syndromes
characterised by the development of tumours in one or more parts of
the body . Genetic testing is typically carried out in young children with
a family history of either condition. Individuals identified as gene carriers
undergo lifelong surveillance in order to detect tumours at an early
stage . Little is known, however, about the psychosocial experiences of
individuals affected by MEN2A or VHL . This study aims to identify the
unmet information and support needs of individuals affected by these
rare cancer syndromes. Patients with a confirmed diagnosis of MEN2A
or VHL were ascertained via the Hereditary Cancer Clinic at Prince of
Wales Hospital, NSW, Australia . A semi-structured individual interview
was developed to assess five broad themes: impact of MEN2A/VHL
on various life domains such as relationships, education and employment;
attitudes towards childbearing; coping strategies; family communication
about the disease; and unmet information and support needs .
Interviews with approximately 20 patients and 16 caregivers are currently
underway, with 16 completed patient interviews and 8 completed
caregiver interviews . Data will be analysed separately for patients and
caregivers, using qualitative data analysis software, QSR N6. Partic-
ular focus will be placed on potential thematic differences between
cancer groups and genders . These data will inform the development
of a survey instrument, which we aim to administer on an international
scale through collaborations with the Association for Multiple Endocrine
Neoplasia Disorders (AMEND) and the VHL Family Alliance .
EP13.9
managing relationship needs while living with chronic genetic
illness
F. Pearce;
Genetic Health, Parkville, Victoria, Australia.
The special care requirements of children, who progressively become
physically and intellectually disabled due to metabolic illness, can be
emotionally and physically overwhelming .
All family relationships are under pressure in these circumstances . At
the same time, people discover capabilities and strengths that would
rarely be known about or used, under more normal situations .
Often, the sick child’s primary care-giver (usually their mother) has to
make choices from several competing needs at the one time . How
are these choices made? On what basis are they prioritised? A great
number of relationships fail in these circumstances, however others
are awe inspiring .
This presentation will include case material that demonstrates how
some couples cope and how others feel forced to ‘give up’ .
EP14. Other relevant psychological and
social topics in genetics
EP14.01
mental representations of pregnant women with advanced
maternal age (AmA) who undergo amniocentesis: a unique
dynamic process
A. S. Leonardo1 , J. Justo2 , I. Cordeiro1 ;
1 2 Hospital Santa Maria, Lisboa, Portugal, Faculdade Psicologia e Ciências de
Educação, Universidade de Lisboa, Lisboa, Portugal.
Non routine medical procedures, such as amniocentesis, have been
suggested to have an emotional impact on pregnant women . Anxiety
is an obvious consequence, the psychological “suspension” of the
pregnancy might be another one . We propose that the process of accepting
the reality of gestation and the reality of the foetus, expected
to occur respectively in the first and second trimester, is postponed in
AMA women who undergo amniocentesis until after the result comes
through .
Building mental representations about the foetus is an important part
of the psychological process that takes place during pregnancy . In fact,
some studies have questioned the importance of these representations
for the quality of the mother-baby relationship/ interaction . Amniocentesis
is thus performed during a crucial period of intense and
dynamic internal activity . The purpose of this study was to understand
how does this procedure influence the dynamic process by which AMA
women build representations of the foetus as their “child-to-be” .
We applied an adaptation of Interview R to a group of 35 pregnant
AMA women (A) and a control group (NA), before and after amniocentesis
. Before amniocentesis, group A gave “less rich” and “less
positive” descriptions of their future babies, and characterised them
as “less active” and “quieter” . After the results were known, the only
difference between the two groups was that NA women continued to
describe their future children in a more positive way .
These findings suggest that the dynamic process of maternal mental
representations is unique in AMA women who undergo amniocentesis
.
EP14.02
GeneBanc. studying the ethical, legal and social aspects of
Biobanking
P. Borry, K. Dierickx;
Centre for Biomedical Ethics and Law, Leuven, Belgium.
Background . The last few years have witnessed an important expansion
of collection and processing of human biological samples and of
the related information data . Biobanks are huge repositories of human
biological specimens and have a strategic importance for genetic research,
clinical care and future treatments .