2008 Barcelona - European Society of Human Genetics

EMPAG Posters
a figure of 35% from this state’s service, much higher than observation
of the local pedigrees indicated. Reworking uptake as an annual figure
partly corrects for the length of time a program has been operating .
Other identified errors include the use of the cumulative total of those
who have tested, with a static denominator of those at 50% risk; and
the failure to exclude from the at-risk group those who are too young
(ineligible) to test .
Most studies have used population prevalence of Huntington disease
to calculate the total of those at 50% risk . We report new data for this
state, Victoria, estimating the prevalence to be 8 per 100,000 in 1999 .
Additional information collated from the Huntington Disease Register
of Victoria indicated that for every diagnosed person, there were 4 .2
individuals at 50% risk (1:4 .2), a lower ratio than the1:5 hypothesized
in the literature . We are currently developing an uptake formula which
more accurately incorporates the variables . Our calculation gives an
uptake of approximately 13% for this region . An accurate uptake is
necessary to assess and interpret testing behavior .
EP08.3
Psychosocial genetics: psychological long term family impact
(5 years) of the predictive test for machado-Joseph disease on
Azores
C. D. Gonzalez 1 , E. M. Gomes 2 , M. Lima 3 , C. Bettencourt 3 , T. Kay 4 , J. Santos 5 ,
J. Vasconcelos 5 ;
1 Serviço de Psiquiatria do Hospital do Divino Espírito Santo, Ponta Delgada,
Portugal, 2 Grupo Açoriano de Investigação Neurogenética, Ponta Delgada, Portugal,
3 Centro de Investigação em Recursos Naturais (CIRN) e Departamento
de Biologia, Universidade dos Açores, Ponta Delgada, Portugal, 4 Serviço de
Medicina Genética, Hospital D. Estefânia, Lisboa, Portugal, 5 Serviço de Neurologia
do Hospital Divino Espírito Santo, Ponta Delgada, Portugal.
Objective: Evaluate the long term(5 years) psychological impact in the
pre-symptomatic genetic testing(PT) for the Machado-Joseph disease
(MJD) in Azores, the motivations for the test and the disease representations
.
Methods: Scales to measure the individual well-being;family satisfaction,
semi-structured interviews of psychosocial assessment and family
dynamics .
Results: Of the 53 individuals revalued, 92 .45% say that would take
again the PT, presenting as the main motivation planning their future
based on the test results .
In terms of geographic distribution of individuals, its to highlight that in
Flores island, all individuals reassessed said that they would do again
the PT,maintaining the motivation initially submitted .
Regarding family dynamics, 58 .49% of those claim not notice any
change, however this information is opposed by the results of the interviews
conducted, in which it is noted that 24 .53% of these individuals
describes changes in dynamics either by approximation or by distancing
family .
Conculsions: The study shows that most of the individuals who made
the PT for MJD would repeat it, considering that knowing the test result
contributed to “plan their future .”
In terms of family dynamics, it is apparent that changes were focusing
on these two opposing poles: the remote and closer family .
Levels of moderate and severe stress in subjects reflect the influence
of the results of PT in the psychological well-being of individuals .
It´s clear that the results of PT, influence the psychosocial situation of
the individuals and their family dynamics, justifying the need for a psychosocial
monitoring of individuals and families during the program .
EP08.4
Psychosocial evaluation for the predictive test of the machadojoseph
disease
C. D. Gonzalez 1 , E. M. Gomes 2 , M. Lima 3 , C. Bettencourt 3 , T. Kay 4 , J. Santos 5 ,
J. Vasconcelos 5 ;
1 Serviço de Psiquiatria do Hospital do Divino Espírito Santo, Ponta Delgada,
Portugal, 2 GAIN - Hospital do Divino Espírito Santo, Ponta Delgada, Portugal,
3 Centro de Investigação em Recursos Naturais (CIRN) e Departamento de Biologia,
Universidade dos Açores, Ponta Delgada, Portugal, 4 Serviço de Medicina
Genética, Hospital D. Estefânia, Lisboa, Portugal, 5 Serviço de Neurologia do
Hospital do Divino Espírito Santo, Ponta Delgada, Portugal.
Objective: To publicise the methodology used in the psychosocial evaluation
process prior to the test for Machado-Joseph disease of the Azores .
Methods: Semi- structured interview, family genogram and psychomet-
ric scales measuring the individual and systemic resilience of those who
wish to carry out the Predictive Test (PT) .
Content: According to one of the objectives of GAIN (Azorean Group of
Neurogenetics Research), the continued improvement of the protocol of
the Genetic Counseling for the PT, and after the completion of a detailed
study of revaluations of PT’s until 2006, which led us to consider the importance
of the first interview in psychosocial adjustment to the test result,
we started a new methodology in psychosocial assessment of the candidates
for the PT .
This approach seeks to identify the different types of these individuals,
taking into account the influence of risk factors increased or decreased
as the interaction with the individual protective factors and its relational
system, making prognosis of a better or worse adapt to the results of PT .
In this sense, we’ve followed a set of criteria which take into account the
evaluation of the self, the kind of argument used by individuals and the
systemic factors within and outside the family .
This assessment allows the scheduling of sessions of psychosocial counseling,
aimed enhance the protective factors and minimize the risk factors
prior to the predictive test, for a better psychological adjustment after the
predictive genetic information .
EP08.5
Psychology of predictive medicine: Acceptance of testing for
genetic predisposition to breast cancer
A. V. Shopova, S. Shopova, E. Simeonov;
Medical Faculty, Sofia, Bulgaria.
This presentation is the closing part of longitudinal study over attitude
of Bulgarian people towards the possibilities and achievements
of genetic science. The first part that included women, health-care
workers(non-genetics) was “Acceptance of testing for genetic predisposition
to breast cancer: The attitude of medical professionals .”
The second part covered the acknowledgments of medical or biological
students and was titled “Acceptance of testing for genetic predisposition
of academic youth to PS DNA t for autosomal dominant inherited
late onset diseases” .
At this third level we expanded our study in the opinion of non-medical
healthy people .
In conclusion this study compares the three groups- MD specialists,
students and non-medical healthy people mainly towards:
1 . Information sources .
2 . Attitude of the possibilities of “predictive medicine” .
3 . Personal choice in genetic case situation .
EP08.6
Lessons of uncertainty from a rare inherited neurodegenerative
disease: may it be a model?
E. Di Maria1,2 , S. Gattone2 , V. Viassolo2 , F. Forzano2 , F. Faravelli2 ;
1 2 University of Genova, Genova, Italy, Laboratory of Genetics, Galliera Hospital,
Genova, Italy.
The acronym IBMPFD designates inclusion body myopathy with Paget’s
disease of the bone and frontotemporal dementia, a rare autosomal
dominant disorder caused by missense mutations in the VCP
gene . The disease usually presents in adult life; no effective treatment
is available .
When we encountered the questions and the needs of an at-risk family
member, we dealt with a disease characterised by: i) variable involvement
of multiple systems; ii) age-dependent, yet unpredictable, penetrance
of each of the cardinal signs; iii) possible occurrence of progressive
cognitive decline . The co-presence of these features makes
IBMPFD a compelling model for genetic counselling, as it resembles a
complex disorder despite the Mendelian mode of inheritance .
The recommendations for predictive testing published for familial
dementias state that the protocol developed for Huntington’s disease
(HD) should be followed . However, the deterministic scenario
prompted by the HD mutation may appear simplistic when we face a
number of additional uncertainties, including: i) the inability to predict
the clinical presentation, i .e . the involvement of either muscles, bones,
brain, or all; ii) the low predictive value of a negative test result, due
to the high prevalence of cognitive decline among aged individuals .
Nevertheless, it can be inferred from literature that predictive testing
was performed in families included in research protocols, although the
genetic counselling procedures were not mentioned . We will address
some of these issues, by comparing the theme of multiple uncertain-