2008 Barcelona - European Society of Human Genetics

Genetic counselling, education, genetic services, and public policy
a responsibility to provide information about NBS to parents prior to
the heelprick, many challenges face the provision of this increasingly
important pre-screening care .
P09.03
increasing research through collaboration
J. D. Cody, C. D. Sebold, D. E. Hale;
Chromosome 18 Clinical Research Center, San Antonio, TX, United States.
One goal of lay advocacy groups is to encourage research into the
condition of interest . However, advocacy groups face some unique
challenges in the achievement of this goal . (1) The pool of potential
research participants and funding opportunities are limited by the relative
rarity of the condition . (2) Many conditions have multisystem involvement,
meaning that specialists from multiple disciplines must be
involved in the research . (3) For many conditions, the natural history is
still unknown . However, studies delineating the phenotype of a condition
are particularly challenging, as such studies require a methodical
clinical assessments of every system, ideally performed by the same
group of investigators .
The relationship between the Chromosome 18 Registry and Research
Society and the Chromosome 18 Clinical Research Center is unique
in that the Registry is affiliated with only one research center. This differs
from the more traditional paradigm in which an advocacy group
grants smaller amounts of funding to multiple investigators at different
institutions .
In our experience, this relationship has been critical in addressing the
above challenges . (1) The collaborative effort provides the Research
Center both funding and a large pool of potential research participants .
(2) The establishment of the Research Center in one institution allows
for recruitment of multiple disciplines within the institution to aid in
study design and execution . This paradigm also eliminates barriers to
the sharing of data and samples between investigators . (3) The same
investigators perform evaluations on patients using the same methods
and tools, ensuring that the clinical data is reliable .
P09.04
geneticsmadeeasy.com
M. T. Solé-Pujol 1 , J. M. Carrera Macia 2 , J. M. Cantu Garza 3 , F. T. Solé Ristol 4 ,
J. Antich Femenias 1 ;
1 Centro Genética Médica, Barcelona, Spain, 2 Institut Universitari Dexeus, Barcelona,
Spain, 3 died in Buenos Aires 12 of november 2007. Mexican Institute
of Social Security, Guadalajara, Mexico, 4 Hospital del Mar, Institut Municipal d´
Assistencia Sanitaria (IMAS), Barcelona, Spain.
genetics made easy .com is a free informative web site about human
genetics, with an average at this moment of 490 .868 visits for year . It
works as an excellent resource for clinician an other healthcare professionals
in order to complement the genetic counseling as well as
for general population and couple wanting to have a baby as the web
site presents important information that they should know . Them terms
used in the web site are clear, easy to understand, and are supported
by static illustrations as well as by flash animations.
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? (assisted reproduction
techniques) - Origin of hereditary disorders - Prenatal Diagnosis techniques
- Gene therapy - Cloning and stem cells - Questions - Links of
interest - Further reading - Foreword
P09.05
the international multidisciplinary community Genetics Network
L. P. ten Kate 1 , L. Henneman 2 ;
1 Dept Clinical Genetics, EMGO-Institute, VU University Medical Center, Amsterdam,
The Netherlands, 2 Dept Public and Occupational Health, EMGO-Institute,
VU University Medical Center, Amsterdam, The Netherlands.
The International Multidisciplinary Community Genetics Network is
an E-mail network aiming to facilitate communication among those
working in the field of community genetics. This includes researchers,
health professionals and others interested in genetic screening, genetic
education, access and quality of genetic services or preconception
care, genetics in primary care, genetic registries, genetics of disadvantaged
populations, public consultation or epidemiological, economic,
psychosocial, ethical and legal issues .
The core activity is a monthly newsletter with a list of references to
recent scientific papers of members and a continuously updated list of
upcoming meetings . This allows a rapid spread of information among
members, which is advantageous to the authors of papers or organizers
of meetings, but also to readers who want to stay tuned on what
others are doing . In addition members may present information on
new activities in the newsletter, and publish calls for information (e .g .
about validated research questionnaires or participants for a particular
study) .
The Network was launched at the ESHG annual meeting in Nice last
year . Nine months later (mid February 2008) the Network has 245
members in 45 countries worldwide, growing at a pace of 25-30 new
members each month . Just over 50% of the membership comes from
Europe (20 countries) . The country with the largest number of members
is the USA . Updated numbers will be presented at the ESHG
annual meeting in Barcelona .
Those who want to have more information or want to become a member
and obtain the newsletter, should send an E-mail to commgennet@gmail
.com .
P09.06
mainstreaming community genomics: the EcOGENE-21 initiative
D. Gaudet, M. Santure, F. Paradis, C. Belanger, D. Brisson;
Montreal University Community Genomic Medicine Center, Chicoutimi, QC,
Canada.
ECOGENE-21 is a transdisciplinary initiative, driven by the specific
needs of communities. ECOGENE-21 specifically refers to human
communities, a cohesive social entity of individuals or families sharing
the same environment and ecosystem within the context of the
larger society . ECOGENE-21 aims to understand the role of genetic
health determinants and new genetic technologies in global health issues,
and integrate this knowledge into a comprehensive framework
to improve health at the level of human communities . The aims are to:
(1) develop, validate, apply and replicate cost-effective genome-based
technologies and screening strategies to prevent Mendelian diseases
at the community level; (2) generate, validate, apply and evaluate technologies
and strategies in different communities of the world for the
prevention and treatment of common diseases, based on the model of
lipid disorders, the metabolic syndrome and associated risk of type 2
diabetes and cardiovascular risk factors; (3) develop the expertise and
platforms needed to generate, apply, validate and replicate new knowledge
issued from community genomics, population genomics, pharmacogenomics,
nutrigenomics, epigenomics and environmental genomics
research . Over a 5-year timeframe, ECOGENE-21 will deliver,
apply and disseminate new applicable, cost-effective and exportable
vanguard technologies, strategies and concepts for disease prevention
in human ecosystems, as well as innovative knowledge transfer
and training strategies, tools, platforms and expertise . The ECOGENE-
21 framework and results obtained to date in the French-Canadian
founder population based on analytic, clinical and public health validity
and utility criteria will be presented . ECOGENE-21 is supported by the
Canadian Institutes of Health Research (#CTP-82941) .
P09.07
it‘s not just about competence: Why identifying organisational
practice is an important step in developing a high quality genetic
service
M. Bishop 1,2 , Y. Bylstra 1 , F. Cullinane 3 , C. Gaff 4 , S. Metcalfe 1,2 ;
1 Murdoch Childrens Research Institute, Melbourne, Australia, 2 The University
of Melbourne, Melbourne, Australia, 3 The Royal Women’s Hospital, Melbourne,
Australia, 4 Genetic Health Services Victoria, Melbourne, Australia.
While there have been numerous efforts to develop competences in
genetics for non-genetic health professionals to support their practice,
there has been minimal research to identify other factors that influence
this role . As part of our study to examine how midwives provide
a genetic service in Victoria, Australia, we identified the barriers and
facilitators of this practice, using a mixed methods approach . Qualitative
data were collected from nine focus groups with midwives (n=50)
and two focus groups with experts in genetics (n=10), as well as 12
interviews with managers of hospital maternity services . Transcripts