2008 Barcelona - European Society of Human Genetics

EMPAG Posters 0
EP13.2
Decision making dilemmas for E-cadherin mutation carriers: A
family case study
S. C. Downing;
Department of Medical Genetics, Addenbrookes Hospital, Cambridge, United
Kingdom.
This case study presents two siblings, whose health beliefs, career and
family responsibility had a strong influence on how they perceived their
risk, management choices and decisions . Both were carriers of an Ecadherin
(CDH1) mutation and chose to manage their risks differently .
Gastric cancer affects 15 per 100,000 people in the UK and around 3%
arise from a clearly identified inherited gastric cancer predisposition.
One third of families with a strong history of diffuse gastric cancer have
germ line mutations in the E-cadherin gene . Mutation carriers have a
70-80% life time risk of developing gastric cancer with associated poor
outcome, they also have an increased risk of lobular breast cancer
and colon cancer . Predictive testing is available for individuals where
a familial mutation has been identified. A positive result provides challenging
decisions regarding personal risk management with the option
of endoscopic screening or prophylactic gastrectomy . Screening is unproven
and there is concern that early cancer may be missed since it
is submucosal . The alternative option of surgery carries a high morbidity
with life long adaptations required; limited data exists on the outcome
for prophylactic gastrectomy . One sibling opted for preventative
surgery, the other endoscopy screening . Counselling issues included:
career changes, family dynamics, psychosocial aspects, coping with
major surgery, and quality of life . Management of cancer risk is a personal
issue, risk management options should be explored in depth to
enable the individual to make fully informed decisions .
EP13.3
Quality of life in adults with familial adenomatous polyposis
(FAP)
K. Fritzell 1 , J. Björk 1 , M. Arman 2 , R. Hultcrantz 1 , L. Wettergren 2 ;
1 The Swedish Polyposis Registry, Stockholm, Sweden, 2 Department of Neurobiology,
Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Background: FAP is a disease which among other symptoms is manifested
as multiple polyposis with adenomas in the large intestine, rectum
and duodenum . These adenomas are very likely to turn cancerous
over time . The disease is inherited autosomal dominant . Surgery is
the only treatment that can prevent colorectal cancer and prophylactic
surgery is performed on all patients . Preoperative symptoms are rare,
but a large number of patients report functional impairments after surgery
.
Aim: The aim of the study was to describe how adult patients with FAP
perceive that the disease has affected their life .
Method: Adult patients (≥20 years) attending the outpatient clinic at
The Swedish Polyposis Registry were invited to participate in focus
group interviews (n=43) . Three focus group interviews were conducted
. Data was analysed by means of content analysis .
Results: The content analysis revealed nine themes: Worries and concerns,
Social life, Choice of career and education, Risk of giving the
disease to the children, Changed food and toilet habits, Experiences
of endoscopic examinations, Relationships to health care providers,
Stories about hospital stay at their first surgery, Knowledge of FAP.
Conclusion: The study has highlighted several issues of concerns related
to FAP . Worries about getting worse due to the disease were expressed
by many of the participants but not anyone mentioned cancer
as a threat for future health . Due to the heredity of the disease, having
own children or not was a deep and complex question and the discussion
gave an impression of a need to defend one’s standpoint .
EP13.4
Participation in Huntington‘s disease research:hoping, coping
and a nice day out
J. Needs;
Cardiff University, Cardiff, United Kingdom.
This poster is based on an ongoing PhD examining Huntington’s disease
(HD) as a case study of how the development of genetic technologies
and identification of human genetic mutations, affect the work of
the clinic and the lives of patients . Ethnographic data from neurological
research clinics (n=11) will be used to explore the current nature and
structure of clinical work itself, and will illustrate how different mean-
ings of the clinic are enacted by the participants, including patients,
family members, carers, and researchers . This work will be used to inform
later stages of the PhD, which will include interviews with patients
and clinical teams and the examination of an archive of HD patient
records from the 1970’sto the present day .
Current clinical practice emphasises genetic, biological, cognitive and
physical measurement . These are areas associated with neuroscientific
research programmes, and patient recruitment is crucial in order
to provide large data sets for possible future clinical trials . These data
sets will be kept indefinitely and provide material for international collaborative
research . However, for patients and families, research involvement
is not always the focus . Rather, they view participation as a
privileged medical appointment and a way of getting answers to their
own situations . They hope for effective treatment via research (stem
cells) and participation may provide one strategy for coping with the
effects of the disease . The research environment and relationships
with researchers at repeated clinic visits also provides familiarity and a
social aspect to the whole process, in effect, a nice day out .
EP13.5
Consensus document on best care in HD: a training/educational
program for italian neurologists
G. Jacopini 1 , P. Zinzi 1 , A. R. Bentivoglio 2 , M. Frontali 3 ;
1 ISTC/National Research Council, Rome, Italy, 2 Istituto di Neurologia Università
Cattolica del Sacro Cuore, Policlinico “A.Gemelli”, Rome, Italy, 3 INMM/National
Research Council, Rome, Italy.
Huntington’s disease is a rare, complex, hereditary disorder, characterized
by motor as well as psychiatric symptoms; very often, neurologists
are unable to handle these patients, lacking guidelines about the
most appropriate way of care for them . In July 2007, upon request
of the Italian Association for Huntington’s Chorea (A .I .C .H-Rome and
A .I .C .H-Milan), our research group organized a multidisciplinary panel
of experts with the main task of providing recommendations for the
best care in HD . The panel produced a “consensus document” with recommendations
which address HD patients and families’ main needs,
combining together scientific information and long lasting clinical experience
. The document covers multiple aspects: making the diagnosis
and communicating it, therapeutic management and paramedical
treatments, nutrition and dietary supplements, genetic risk and genetic
testing protocol, co-morbidity, palliative and end-of-life care, non medical
support, indications for referral .
The document, written in a synthetic style, contains practical recommendations
aimed at minimize inappropriate care and introducing research
findings into clinical practice of neurologists not familiar with
HD issues . The document will be printed (10 .000 copies) and, starting
May 2008, first introduced in the course of three main educational
events (in Northern, Central and Southern Italy) for neurologists . Then
the document will be delivered to 3,500 neurologists working both in
public health care settings and in the private field. In the future we plan
to assess the impact of the document through meaningful and measurable
outcomes .
EP13.6
Living with a person with Huntington‘s disease
A. J. A. G. Van Tongerloo, A. M. J. J. De Paepe;
University Hospital Gent, Gent, Belgium.
Introduction: Huntington’s disease, an autosomal dominant neurodegenerative
disorder, is characterized by a triad of progressive motor,
cognitive and emotional symptoms . In 1994, predictive testing through
the direct DNA test became available . The psychological impact of carriership
on the testee and his/her partner has been extensively evaluated
and reviewed . Few studies however, have been conducted to
explore how living with a person with the disease affects the healthy
partner’s daily life .
Materials and Methods: In January 2008, a qualitative study was set
up, in which partners of persons with HD are questioned through a
semi-structured interview . Topics that are questioned are: coping with
the partner’s symptoms, the symptoms that are the most difficult to
deal with, the changes in personal life of the healthy partner, and the
future perspectives for the healthy partners . Furthermore, participants
are asked about their feelings towards their partner, and about communication
on the disease with the affected partner, with their children
and with significant others.