2008 Barcelona - European Society of Human Genetics

Genetic counselling, education, genetic services, and public policy
were analysed, major themes identified and data triangulated. These
findings were validated with quantitative data collected from midwives
responding to a state-wide survey (n=317, response rate 45 .4%) . Our
findings indicate that there is variation in the genetic practice of midwives
. While each midwife’s practice is contingent on their individual
competence, the scope of their practice is heavily influenced by the
organisation in which they work . For example, each hospital provides
specific guidelines on what information needs to be collected to determine
genetic risk, and what genetic tests should be discussed with
each pregnant woman. These findings suggest that programs that
only target midwifery competence will not be enough to effect practice
change . Instead, for midwives to provide an effective and high quality
genetic service, a two pronged approach targeting midwifery competence
and addressing organisational policy is required .
P09.08
Genetic counseling for newborn hearing screening in Nagano,
Japan
S. Maruyama1 , A. Sakurai1 , S. Usami1 , Y. Takumi1 , H. Moteki1 , K. Hayashi1 , S.
Nishio1 , M. Maeda2 , A. Mizuuchi1 , M. Arakawa1 , R. Kawamura1 , Y. Yamanouchi1
, H. Yamashita1 , M. Tamai1 , T. Kosho1 , K. Wakui1 , T. Wada1 , Y. Sekijima1 , Y.
Fukushima1 ;
1 2 Shinshu University School of Medicine, Matsumoto, Japan, Support Center for
Children with Hearing Loss, Matsumoto, Japan.
Congenital deafness is a disorder with high prevalence (1/1,000 birth)
and that requires early diagnosis and medical intervention to minimize
the morbidity of the affected infant . Since 50% of congenital deafness
is caused by genetic defect and clinical phenotype and prognosis in
part depend on genetic background, genetic testing for affected infants
can provide useful information . In Japan, a newborn hearing screening
has started as a government project in 2000 . In Nagano prefecture
of Japan (population 2 .2 million), a screening program has started in
2002 . In 2007, under the collaboration and coordination among medical-,
educational- and administrative staffs, the Support Center for
Children with Hearing Loss has opened to support both affected children
and their parents . Division of Clinical and Molecular Genetics in
Shinshu University Hospital also collaborates with this center as a provider
of genetic counseling . Since 70% of genetic congenital deafness
is an autosomal recessive disorder, most parents of affected children
have normal hearing, thus do not consider the possibility of genetic
causes on their affected children . This also suggests that the burden
of patients could be more intense when they know the diagnosis of
their children .
We performed a questionnaire-based survey to clarify psychological
impact of parents and what they needed during hearing screening, before
and during genetic testing, and after being informed a diagnosis .
Results of this survey clearly indicated the importance of genetic counseling
during screening program and intense collaboration between the
Center and community medical staffs such as public health nurses .
P09.09
Development of a set of core competences in genetics for health
professionals in Europe
H. Skirton 1 , C. Lewis 2,1 , A. Kent 2 , D. Coviello 3 ;
1 University of Plymouth, Plymouth, United Kingdom, 2 Genetic Interest Group,
London, United Kingdom, 3 Fondazione IRCCS, Ospedale Maggiore Policlinico,
Mangiagalli e Regina Elena, Milan, Italy.
The increasing use of genomics within a wide range of health care
settings requires health professionals to develop relevant expertise in
genetics to practise appropriately . There is a need for common minimum
standards of competence in genetics for health professionals in
Europe. However, there are significant differences in professional education
and practice across Europe and setting common curricula is not
practical . It was agreed by the Expert group of the EuroGentest project
Unit 6 that a pragmatic solution would be to describe and agree, by
consensus, a set of core competences that could apply to health professionals
in Europe, whatever their national setting .
The core competences were based upon existing frameworks, modified
for the European context. They relate to i) professionals whose
specialisation is in genetics and ii) professionals who are generalists
or specialise in an area of health care other than genetics . Recommendations
have been based on work that was developed in consultation
with the particular group of professionals involved . The goal of this
work is not to be prescriptive, but to provide frameworks that can be
adapted to national and professional need . Curricula for a range of
health professionals, both pre-registration and post-registration, can
be built or modified using the competences.
In this paper, the process of development, the competences and suggested
learning outcomes will be discussed . The competences and
a background document can be viewed on the website of the Euro-
Gentest project [http://www .eurogentest .org/] . The project team invites
feedback .
P09.10
Genetic counsellor : News from France
C. Cordier1,2 , N. Pasz2 , M. Voelckel3,2 ;
1 2 Department of Cytogenetics, Mulhouse, France, French Association of Genetic
Counsellors, Marseille, France, 3Department of Medical Genetics, Marseille,
France.
The Professional Master « Genetic Counselling and Predictive Medicine
» made possible the education of the first French Genetic Counsellors,
since 2005 . Two years later, there are 34 graduated, 23 of
them have a job and 4 of them have a job offer .
Thanks to the data from the French Association of the Genetic Counsellors;
the AFCG (Association Française des Conseillers en Génétique),
we suggest to present the interdisciplinary recruitment, the job
progression in France, and the way managed to its valorisation .
We will specify the annual number of new graduated, and the Genetic
Counsellors location in France and in a couple of countries . Then, we
will insist on the processing action for a national, European, and international
integration of these new French professionals .
P09.11
Genetics counseling:misdirection and misuse in some
developing countries
M. Shariaty;
Cancer Research Institute, Tehran, Islamic Republic of Iran.
Practically genetics counselling began with Eugenic movement around
1910 in England,USA and some western countries with very negative
and destructive effects on health and integrity of humankind . Fortunately
,the misuse of genetics was officially abandoned in 1944 though
practically persisted up to 1960s .
Medical Genetics counselling based on dignity and equality was introduced
by Sheldon Reed in 1944 and became an obligate branch of
modern clinical and medical genetics settings .
In Islamic countries Genetics counselling was introduced by the author
in 1968 based on the same principles thought by my mentor professors
Reed,Vogel and Fuhrmann,and considering all of the humanitaria
n,ethical,moral ,and religion issues concerning the clients .Since 1968
i have counsulted more than 17000 couples,majority seeking consanguineous
marriage . Only less than 2% of these young healthy couples
seeking marriage actually needed karyotyping .
Unfortunately,in the last several years in some developing
countries,genetics counselling has been misunderstood and misused
due to financial interests of private centers.It is quite wrong but popular
practice to order karyotyping for every marriage or every disease that
carries the label of being due to genetics .s disease .I have seen many
examples of ordering karyotyping for Duchene muscular dystrophy,tha
lassemia,hemophilia,phenylketonuria and cystic fibrosis .
Based on these facts I am proposing a universal medical guideline
for every Genetics counselling center and every genetics counsellor
based on medical,ethical,humanitarian ,and religion principles so that
the needy clients could not be misused and financially and morally
exploited .
P09.12
Cystic fibrosis cascade carrier testing in Victoria, Australia: an
audit of clinical service
B. J. McClaren 1,2,3 , M. A. Aitken 1 , R. J. Massie 1,4,2 , S. A. Metcalfe 1,2 , D. J.
Amor 3,2,1 ;
1 Murdoch Childrens Research Institute, Melbourne, Victoria, Australia, 2 The
University of Melbourne, Victoria, Australia, 3 Genetic Health Services Victoria,
Melbourne, Victoria, Australia, 4 Royal Children’s Hospital, Melbourne, Victoria,
Australia.
In Victoria, Australia, carrier testing for cystic fibrosis (CF) is performed
by a single state-wide laboratory and counselling service . CF carrier