2009 Vienna - European Society of Human Genetics

Genetic counseling Genetics education, Genetic services, and Public policy
cian and other healthcare professionals, law and legal field, journalism,
etc.) can benefit from this progress.
The web is an excellent complement to genetic counseling and a
very useful teaching tool to clinicians and other healthcare professionals,
in order to complement medical personal consultations at specific
points when teaching the patient, as you will see through the index
web, as genetically inherited disorders are known across all medical
specialties.
the index web is:
* Introduction, * The origin of life, * Cell specialization, * Chromosomes,
* How do we acquire our inheritance, * What is heredity, * Types of
inheritance, * Why do disorders develop, * What happens when our
recipes combine with our partner´s recipes?, *And how can we use this
vast knowledge and benefit from it, * Origin of hereditary disorders, *
Prenatal diagnosis techniques, *Gene Therapy, * Cloning, and stem
cells, *Questions, * Links of interest, * Further reading, * Foreword.
A FORUM, is included.
Supplemented by static pictures and flash animation, at this moment
is currently available on the Net in spanish, English, chinese and
catalan.
P01.32
Health care needs assessment for medical genetic services in
middle- and low-income nations
A. L. Christianson 1 , R. Zimmern 2 , U. Kristoffersson 3 , J. Schmidtke 4 , A. Kent 5 ,
R. Raouf 6 , C. Barreiro 7 , I. Nippert 8 ;
1 National Health Laboratory Service & University of the Witwatersrand, Braamfontein,
Johannesbrug, South Africa, 2 PHG Foundation, Cambridge UK, United
Kingdom, 3 Dept Clinical Genetics, University Hosp Lund, Lund, Sweden, 4 Institute
of Human Genetics, MHH, Hanover, Germany, 5 5GIG, London, United
Kingdom, 6 Children with special needs Department, Ministry of Health, Cairo,
Egypt, 7 Hospital de Pediatria SAMIC, Buenos Aires, Argentina, 8 Women’s
Health Research, University of Muenster, Muenster, Germany.
Background: Consequent on improving health, education and infrastructure
many middle- and some low-income nations have experienced
epidemiological transition resulting in congenital and common
complex disorders becoming health care priorities. The WHO [2000]
recommended that developing countries implementing medical genetic
services should produce a ‘country report’, in essence a strategic
health care plan. The first component of such a plan is a health
care needs assessment (HCNA). In the 1970s industrialised nations
standardised the process of HCNA. The approach was never applied
to medical genetic services. Experience from advising middle-income
nations on developing their nascent medical genetic services indicates
they are not undertaking HCNA. A major impediment is the lack of a
documented approach.
Objectives: To develop an evidence-based tool for HCNA for medical
genetic services in middle- and low- income nations.
Outcome: CAPABILITY, an EU funded Specific Support Action investigating
the transfer of medical genetic knowledge and technology to
developing nations, has formalised a HCNA for medical genetic services
that middle- and low-income nations can utilise for their ‘country
reports’. Key elements of the HNCA are the development of strategic
aims; an evaluation of existing services and the environment in which
they function; a review of epidemiology, effective interventions, opinions
of consumers and professionals, available resources and possible
constraints. Analysis of these enables the production of a HCNA.
This approach will assist nations with emerging economies to marshal
and allocate their limited resources when developing medical genetic
services.
Funded by: EC Contract no.: FP6-037275
P01.33
Huntington disease - concerns of family carers in the United
Kingdom
H. Skirton1 , J. K. Williams2 ;
1 2 Faculty of Health and Social Work, Taunton, United Kingdom, University of
Iowa, Iowa City, IA, United States.
Huntington disease is a neurodegenerative condition. Affected individuals
may require health and personal care for 15-20 years: this care
is frequently undertaken by family members. Previous studies have
demonstrated both the positive and negative impact of caring for relatives
with debilitating conditions.
We report here findings of a study focussed on the concerns of family
members caring for a person with Huntington disease in the United
Kingdom. This was part of a larger study undertaken in the United
Kingdom and the US. UK respondents (n=120) who were currently
caring for a relative affected with Huntington disease were asked to
self-complete the Huntington Disease Family Concerns and Strategies
Survey to identify areas of concern and the extent to which specific
issues bothered carers. Items in the scale were derived from a previous
qualitative study of carers. A series of open questions required
participants to respond in their own words: 81 respondents completed
those sections. The qualitative data were analysed thematically, three
main themes emerged. These were: i) the carer’s health, ii) caring for
the affected person in an appropriate way and iii) accessing social and
health care services. Carers were concerned about their own health
and ability to continue to care. Some health professionals were perceived
to be uncaring and lacking knowledge to support care, while
appropriate services were often difficult to access. Despite living in
a country with a National Health Service, carers still have considerable
concerns and stresses associated with support of a relative with a
long-term genetic condition.
P01.34
Basic criterias of psycho-medical-genetic counseling of families
with children affected by Down and X-fragile syndromes in
Republic of moldova
M. Sprincean;
National Centre of Reproductive Health and Medical Genetics, Department of
Genetic Diseases Prophylaxis, Chisinau, Moldova, Republic of.
Psycho-medical-genetic assistance, expressed as counseling activity,
is dealing with disorders of emotion, will, motor function and speech
which are most frequent aspects of psycho-medical retardation of children
affected by Down and X-fragile Syndromes, most frequent genetic
pathologies in Moldova. Psychophysical retardation of children
with genetic pathologies, in general, is not so evident in first stages of
their life comparing with healthy children, due to human biological inborn
potential. Developmental gap between healthy children and those
affected, progressively and naturally increases later.
Correctional strategy of psycho-medical-genetic counseling of families
for medical-psycho-behavioral stimulation of children up to three
years old with Down and X-fragile Syndromes is based on following.
First, amelioration of children’s development by applying in complex of
medical, psychological and pedagogical resources. Success of psycho-medical-genetic
counseling of families with affected children depends
on efficient applying of medical-genetic, psycho-pedagogical resources
of amelioration of development of such children, especially in
first three years of life. Second, earlier, differential stimulation of three
basic psychic behaviors: psycho-motorial, social-affectional, cognitiveverbal.
Evidently, earlier and individual applying of developmental-correctional
medical, psychological and pedagogical resources, during
counseling activity, determines successful rehabilitation and social
integration of children, mostly in next periods of life. Third, support
of children’s families, which amplify the ameliorational effect of medical-genetic
and psycho-pedagogical rehabilitational model promoted
during psycho-medical-genetic counseling, based on partnership with
mothers and/or other persons caring of these children, with the aim to
contribute to stimulation of their development in families, representing
most favorable ameliorational environment for children with Down and
X-fragile Syndromes.
P01.35
support for patients with multiple endocrine neoplasia type 1
and their families: what do they want?
S. Maruyama, A. Sakurai, Y. Fukushima;
Shinshu University School of Medicine, Matsumoto, Japan.
Multiple endocrine neoplasia type 1(MEN1) is a familial tumor syndrome
which develops tumors in different organs and at different times, thus
patients with MEN1 need to continue inspection and various treatment
for the entire lifetime. Genetic testing of patients and family members
can cause them significant psychological distress. To know what they
have felt when they were diagnosed as having MEN1 and what kind of
support they wanted, we carried out a written questionnaire-based survey
for affected patients and their spouses. Twenty-nine patients and
22 their spouses completed questionnaires and those were analyzed.
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