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

Genetic counselling, education, genetic services, and public policy
risk is given on standard algorithms.
CONCLUSION:Cancer clinics that deal with familial cancers will include
genetic assessment programs. It must be remembered that patients
have rights to receive breast cancer risk information and genetic
testing consultancy before and after genetic testing .
P1315. Preconceptional CF and HbP carrier screening in the
Netherlands: First results of a trial in a multi-ethnic society
P. Lakeman, L. Henneman, P. D. Bezemer, M. C. Cornel, L. P. ten Kate;
VU University Medical Center, Amsterdam, The Netherlands.
Objective: The reaction of couples planning a pregnancy was studied
to a combined offer of ancestry dependent cystic fibrosis (CF) and
haemoglobinopathies (HbPs) carrier screening.
Methods: 9453 people (20-35 years) were offered CF and/or HbP carrier
screening at their general practitioner’s (GP) office by either their
GP (n=4720) or the Municipal Health Service (MHS) (n=4733). The target
group was defined as having a partner and planning a pregnancy.
Its size was estimated by means of a reply form (=respondents) and a
telephone survey among a sample of non-respondents (n=201).
Results: 14% (1365/9453) responded. The target group was estimated
to be 33%: 490/1365 respondents and 66/201 out of the 8088 non-respondents.
Thirty-four percent intended to participate in carrier screening
(166/490). Only 87 actually had a carrier test done together with
their partner: 29% (25/87) and 71% (62/87) were invited by the MHS
and their GP, respectively. The proportion participating non-Western
immigrants (31%) was less than the proportion invited (50-60%), and
people with lower education were underrepresented (only 10% of participants).
The participation rate was ~ 3%. “Lack of time” (37%) was
the main reason for non-participation. The majority supported offering
CF and HbPs carrier screening to all couples planning a pregnancy:
77% and 71% of participants and non-participants, respectively.
Conclusion: Immigrants and people with lower education reacted differently
to the offer of preconceptional CF and HbPs carrier screening.
Furthermore, MHS’ sending the invitations seems to be a barrier. Both
lead to challenges for the implementation process.
P1316. Genetic Assessment of a Clinical Case of Congenita
Myotonica
M. Dehghanmanshadi, T. Majidi Zadeh, M. Rostami, M. Ebrahimi, K. Banihashemi,
S. Saber, M. Houshmand;
National Institute Center Genetics Engineering & Biotechnology, Tehran, Islamic
Republic of Iran.
In clinical practice there would be some cases of myotonia with clinical
symptoms other than muscular ones who have been associated with
mutations in the muscle chloride channel gene. Most cases reported
to date show a recessive inheritance pattern, with loss of function of
the corresponding protein.
Myotonia congenita is inherited both in an autosomal recessive type
namely Becker disease and also in an autosomal dominant manner
which has been called Thomsen disease; the same mutation may occur
in families with both types of inheritance. In the autosomal dominant
type of the disaese, the proportion of cases caused by de novo
mutations is unknown. Perhaps each child of an individual with autosomal
dominant myotonia congenita has a 50% chance of inheriting
the mutation.
Here we report clinical and molecular findings on family members from
the central region of Iran with dominantly inherited myotonia congenita
as the two brothers in the family show characterized clinical picture
of sustained contraction of the skeletal muscles which identified in
Thomsen‘s myotonia. In genotype/phenotype correlations investigation
these patients showed the typical EMG patterns of the dominant
type resulted in a mild tendency for a discharge of repetitive action potentials
to occur in response to electrical and mechanical stimulation.
P1317. Genetics in clinical practice: Competences for nongenetics
healthcare staff
C. L. Bennett 1 , S. Kaur 1 , E. Tonkin 1 , J. Haydon 2 , A. Daly 1 , L. Gough 3 , A. Eaton 3 ,
P. Farndon 1 ;
1 NHS National Genetics Education and Development Centre, Birmingham,
United Kingdom, 2 Centre for Education in Medical Genetics, Birmingham,
United Kingdom, 3 Skills for Health, Bristol, United Kingdom.
Genetics impacts on the patient care provided by many different health
professionals. What genetic activities are appropriate for health pro-
fessionals outside specialist genetics services, how should these activities
be carried out and how can we ensure a high quality service
for patients?
In the UK, the NHS National Genetics Education and Development
Centre collaborated with Skills for Health (the statutory body responsible
for healthcare competences) to develop “competences for genetics
in clinical practice for non-genetics healthcare staff”. Appropriate genetic
activities were identified by a large group of healthcare staff from
many different professions. They identified nine activities which cover
the pathway for patients with or at risk of a genetic disorder. For each
activity, the health professionals described how the activity should be
carried out - so that for the first time, a set of competences with performance
criteria and underpinning knowledge and understanding have
been defined for genetic activities for non-specialists.
The competences cover widely applicable activities - such as understanding
genetics relevant to your practice, recognising possible genetic
implications, taking an appropriate family history and referring
patients - and more specialised activities such as assessing genetic
risk or understanding genetic testing. Few health professionals will
need all the competences, only those relevant to an individual’s clinical
role should be selected.
The competences can be used in job descriptions where genetic activities
are part of a professional’s role; in developing services or new
roles; for assessing individuals’ learning needs; and to inform the development
of education and training courses.
P1318. Social support in the context of genetic testing of lateonset
neurological disorders
N. M. Oliveira, J. Sequeiros;
Instituto de Biologia Molecular e Celular, Porto, PORTO, Portugal.
Introduction: In genetic counselling, the evaluation of the social worker
has the aim to value if the individuals at-risk, when informed about
their probability of being or not a career of the gene of neurological
hereditary late-onset disease (Huntington disease, Machado-Joseph
disease, familial amiloyd polineuropaty (FAP) ATTR V30M and CA-
DASIL , are able to give an appropriate healthy answer (they dispose
of resilient capacity) or an unsuitable answer not healthy, being this
damaging for the individuals.
In our protocol of the genetic counselling for PST, the social worker
values two groups of risk factors : (1) The vulnerability centered in
the subject (the genetic predisposition, resources of the personality,
cognitive resources, etc.) (2) The vulnerability connected with the inadequacy
of the environment in which the individual is inserted (familiar
unsuitable structure, the separation of the parents, death of the
parents, chronic disease, economical fragility and / or poverty, social
isolation, etc.)
The Social Intervention is carried out through: (1) Exchanges that hold
emotional positive attitudes (Sluzki, 1996: 16); (2) The counselling (formal
or informal) which allow the establishment of interactions that have
the aim of sharing informations on the disease in question; (3) Material
or instrumental support; (4) Technical support or of services; (5) The
access to new contacts.
Conclusions :Contribution of the development, psycodynamics, cognitive
and social models (strategies of resolution of problems, psychotherapy,
stress and coping, personalities, and attitudes) add an important
value to the program of genetic counselling fo PST
P1319. Inheritance patterns in coronary heart disease
S. Seyedhassani 1,2 , M. Rafiee 1 , M. Nemayandeh 1 , R. Hemayati 1 , F. Ghasemi 1 ,
S. Sadr 1 , M. Hushmand 2 ;
1 Medical science university, Yazd, Islamic Republic of Iran, 2 National institute
for genetic engineering and biotechnology, Tehran, Islamic Republic of Iran.
Introduction: Coronary heart disease (CHD) is the leading cause of
death in developed countries. The prevalence of CHD is rising rapidly
in the world due to increased exposure to CHD risk factors. CHD is the
most common heart disease that is believed to be caused by multiple
genetic factors, environmental factors, and interactions among these
factors.
Material and method: 366 consecutive cases were studied by genetical
analysis. Genetic counselling, pedigree analysis, clinical and Para
clinical studies were done for patients.
Results: There were 282 male (77%) and 84 female (23%). Mean age
2