European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Genetic counselling, education, genetic services, and public policy
22 (40%), 4 deletions and 1 duplication (8%). F8 sequencing showed
68 additional mutations distributed throughout the coding exons. Of
the 68 mutations, 17 (28%) predicted premature truncation in the severe
group while the others are amino acid substitutions in both severe
(11/61, 18%) and moderate/mild group (40/42, 95%). F9 sequencing
allowed the detection of all mutations (17 missense, 2 small deletions,
1 small insertion and 1 large deletion). In conclusion: 90 distinct mutations
including 25 novel changes unreported so far were found in Belgian
haemophilia individuals underlying the interest of genetic testing
for carrier detection and prediction of antibodies production.
P1352. Development of molecular biology laboratory training
courses for health care professionals at the North West Genetics
Knowledge Park in the UK
M. J. Leech 1,2 , F. Salway 3 , F. Jury 3 , P. Day 3 , D. Carthy 3 , K. Mathieson 1,2 , P. Finegold
1,2 , D. Donnai 1,2 , H. Middleton-Price 1,2 ;
1 North West Genetics Knowledge Park, Manchester, United Kingdom, 2 University
of Manchester, Manchester, United Kingdom, 3 Centre for Integrated
Genomic Medical Research, University of Manchester, Manchester, United
Kingdom.
Techniques for analysing genetic variants related to disease and treatment
are constantly advancing allowing more sophisticated and rapid
analysis of patient samples. The consequence of greater access to
these techniques is that many clinical disciplines have to embrace the
new technology.
The North West Genetics Knowledge Park is developing a programme
of training courses for health professionals in response to the expressed
need for training in practical molecular genetics laboratory
techniques. The first of these training courses - a national, recurrent
two-day course for clinical cytogeneticists, accredited by The Royal
College of Pathologists - was run in January 2007 with successful
training outcomes. Course evaluation has provided useful insights and
protocols for future development: it is intended that the developmental
process for this pilot course could be replicated with other health
professionals.
An opinion canvassing exercise was initiated within the cytogenetics
profession. A questionnaire was sent to the leads of UK clinical cytogenetics
laboratories via the Association of Clinical Cytogeneticists, to assess
the need for a laboratory-based training course. Questions were
asked about the optimum length of a course and the key laboratory
techniques they would want to see included. The initial course content
was based on this consultation. Techniques in the intensive two-day
course included the Polymerase Chain Reaction (PCR), Quantitative
Florescence (QF) PCR, Multiplex Ligation Dependent Probe Amplification
(MLPA) and microarrays.
Further, specific training courses are being developed for professionals
working in other clinical disciplines including general pathology
laboratory staff, using the successful protocol used for cytogenetics
professionals.
P1353. Health Perception in individuals requesting presymptomatic
testing for late-onset neurological diseases
Â. M. T. Leite, J. Sequeiros, C. Paul;
Instituto de Biologia Molecular e Celular, Porto, Portugal.
Health perceptions are personal beliefs and assessments of general
health and show us how people see themselves as being well or not.
Health perceptions are a subjective concept and may reflect more individual
feelings and beliefs than their current health state. Individual
perceptions about their own health are very important for counseling
in late-onset diseases (Huntington’s disease, Machado-Joseph’s disease
and familial amyloid neuropathy).
Our aim is to evaluate the health perception of the individuals that
come for pre-symptomatic testing and compare them with healthy
people, not at risk for genetic disease.
HYPOTHESIS Individuals at-risk that come for pre-symptomatic testing
may present a worst health perception and show more adverse
indicators regarding their health, once they are pressed by the doubt of
being or not being a carrier for an incapacitating disease.
RESULTS
• There are significant differences regarding factor “current health”.
The group at-risk presents a more positive perception about their current
health.
• The group at-risk shows higher health perception indicators than the
control group.
• The thinks that their current health is better than the control group
and, more than this one, try to continue their life even when feeling
ill; the group at-risk see themselves healthier and feeling well-being
longer than the control group. The group at-risk is more reserved when
feeling ill and is more worried with their health than the control group.
• The control group avoids that illness interferes in their lives, more
than the group at-risk. The control group has more expectations about
having a healthier life and suffered less delayed diseases.
P1354. The North West Genetics Knowledge Park (Nowgen): the
first five years
H. R. Middleton-Price 1,2 , P. Finegold 1,2 , Z. Talks 1,3 , J. Dobson 1,3 , D. Donnai 1,2 ;
1 North West Genetics Knowledge Park, Manchester, United Kingdom, 2 University
of Manchester, Manchester, United Kingdom, 3 Central Manchester and
Manchester Children’s University Hospitals NHS Trust, Manchester, United
Kingdom.
Nowgen was set up as one of six Genetics Knowledge Parks (GKPs)
in the UK, funded by the Department of Health for five years in 2002.
The vision for Nowgen was to build on the achievements of one of the
most comprehensive genetics services in the UK, to create multidisciplinary
work programmes. This was served by the award of €6 million
to build The Nowgen Centre in Manchester, providing a focus for all
Nowgen’s activities, including networking events to create links with
industry, aimed at increasing innovation.
Nowgen has created a multidisciplinary health services research programme
to improve delivery of genetic medicine whilst considering
priorities for patients. Our innovative approach comprises: evaluation
of clinical genetics services; economic evaluation of new services and
technologies; an academic research programme on ethical and social
dimensions; projects mainstreaming genetics into the NHS; a programme
of professional education.
We place public engagement at the core of our activity, since we consider
that informed choices about priorities in healthcare will be critical
to the integration of genetics into mainstream medicine. Through its
Public Programmes, Nowgen is highly regarded for its work in education
and dialogue, empowering people to make decisions about health
management.
Nowgen has established a coherent programme (of health services research,
professional training, commercial events, and public engagement
and education), strategic relationships and clear commercial
opportunities for the future. As we reflect on achievements to date,
we are revising our strategy to impact health and science policy and
practice over the next five years.
P1355. Study on causes of hearing loss and patterns of
inheritance of genetic deafness in Iran
N. Mehran, C. Azimi;
Cancer Institute,Tehran University of Medical Sciences, Tehran, Islamic Republic
of Iran.
Hearing loss is one of the most frequent anomalies in some parts of
the world. A deaf person suffers many problems such as social relationships,
information acquisition from his/her environment, increased
anger, and treatment costs.Through genetic counseling, we may decrease
the chance of birth of deaf people.To do so, we need an accurate
statistical data of causes of hearing loss and patterns of inheritance
in genetic deafness in every population.
The aim of this study was to find out the causes of hearing loss and
patterns of inheritance of genetic deafness among our referred patients.
We studied all the 7092 pedigrees of patients which referred to us
for genetic counseling during the years 2001-2004. From 7092 pedigrees,
335 had hearing loss. Among these 335 pedigrees, 616 cases
of hearing loss were found.Therefore, these 616 cases were studied
according to the causes of hearing loss, patterns of inheritance, consanguineous
and non-consanguineous marriages, and sex by using
SPSS software. Our study showed that genetic causes was the main
etiology of hearing loss (67.8%).The most frequent pattern of inheritance
was autosomal recessive (86.7%),after that autosomal dominant
(11.2%) and the last pattern was X-linked(2.1%).
In consanguineous marriages, the most frequent cause of hearing loss
was genetic causes while in non-consanguineous marriages the most
frequent cause was acquired and unknown causes. The pattern of