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

Genetic counselling, education, genetic services, and public policy
P1338. Results of Genetic Counselling and molecular genetic
testing of severe monogenic disorders in Hungary between 1993
and 2006.
L. Tímár 1 , Á. Herczegfalvi 2 , J. Balog 3 , H. Pikó 3 , K. Hajdu 4 , A. Tóth 4 , V. Karcagi 3 ;
1 National Institute of Child Health, BUDAPEST, Hungary, 2 Bethesda Children’s
Hospital, BUDAPEST, Hungary, 3 Dept. of Molecular Genetics, Natl. Institute
of Environmental Health, BUDAPEST, Hungary, 4 National Institute of Health,
BUDAPEST, Hungary.
During the genetic counselling of the severe monogenic genetic diseases
it is very important to establish the exact etiological diagnosis.
The molecular genetic examinations play outstanding role in this diagnostic
procedure. Molecular genetic diagnosis provides effective possibility
for prevention of serious genetic disorders by prenatal diagnosis
and possible termination of pregnancy whenever treatment of the
diseases is unavailable. Moreover, genetic results provide accurate
differential diagnosis and proper medical care for the patients.
Molecular genetic examinations on the following severe genetic disorders
have been performed in our laboratory during last 13 years:
Spinal Muscular Atrophy -in 78 families with 98 prenatal diagnosis;
FRAXA - in 38 families with 2 prenatal diagnosis; Charcot-Marie-
Tooth disease type 1A - in 14 families; Ducenne/Becker Muscular Dystrophy
- in 12 families; Congenital Myasthenic Syndrome - in 1 family;
Facioscapulohumeral Muscular Dystrophy - in 2 families; Limb Girdle
Muscular Dystrophy - in 2 families; Angelman syndrome - in 5 families.
The detailed results will be reported in our presentation.
By performing the molecular genetic analysis effective diagnosis and
correct genetic counselling was established in our genetic unit.
P1339. The perspectives and experiences of genetic counsellors
and linkworkers (interpreters) working together in clinical
genetic consultations
T. Clancy 1 , G. Matta 1,2 ;
1 Academic Unit of Medical Genetics and Regional Genetics Service, Manchester,
United Kingdom, 2 Department of Clinical Genetics, Great Ormond Street
Hospital, London, United Kingdom.
Language, ethnicity and culture affect many aspects of genetic counselling,
and there is a need for contextually appropriate and accurate
communication. Britain is a multicultural and multifaith society, and
English is not the patient’s first language in a proportion of consultations.
This research provides an insight into the experiences and perspectives
of genetic counsellors and linkworkers (interpreters) when
they work together. The study was based on convenience sampling
at one centre in the UK. Six genetic counsellors and five linkworkers
participated. Exploratory semi-structured interviews were taped
and transcribed, and the transcripts were analysed thematically. Both
groups identified the following issues as having an important impact on
joint consultations: differences in their professional roles and responsibilities;
developing a working relationship; the language of genetics;
and, training and support needs. All participants agreed that a partnership
between the two professional groups is key to achieving the best
outcome for patients. However, they also commented that minimal (if
any) training is provided to enable them to work together effectively.
Relationships are ad-hoc, and there is little opportunity to prepare for
consultations together. This small study has identified some ways to
improve the service offered to patients, including: training for genetic
counsellors and linkworkers to raise awareness of each other’s roles
and to learn how to work together; the development of a common and
consistent lexicon of key genetic counselling terms and concepts for
translation into minority ethnic languages; and, ensuring there is time
for pre- and post- consultation briefings to occur.
P1340. Prenatal and preimplantation diagnonis in Cancer
Genetic: what’s the role of Genetic Counsellors?
E. Haquet1 , A. Combes1 , P. Pujol1 , J. Duffour2 , I. Coupier1 ;
1 2 CHU Montpellier, Montpellier, France, CRLC Val D’Aurelle, Montpellier,
France.
In cancer genetic, most syndromes are dominantly inherited - which
leads to a risk of transmission of 50%.
Prenatal and preimplantation diagnoses are options frequently chosen
by affected patients who do not want to have a child with the same disease.
They do not wish their children to go through the same suffering.
In France, those medical interventions depend on ethical laws which
request a “particularly severe and not curable affection”. Prenatal and
preimplantation diagnoses are not allowed to all the hereditary predispositions
to cancer.
Genetic counsellors have newly been introduced in France. Before
2004, genetic counselling was only done by specialized physicians.
Now that genetic counsellors have been introduced to the field, their
missions have yet to be defined.
This work presents different propositions about how genetic counsellors
could afford a comprehensive support through adapted consultations
to couple with one partner affected by a dominantly inherited
cancer. Their missions could be mainly focused on accompanying
couples from the first consultation of genetic through their questions
about having a baby, taking the risk of transmission or not, all the way
to the birth, the renouncement, the prenatal diagnosis or the preimplantation
diagnosis.
P1341. “Coping first, genetics second”: A qualitative study
exploring family communication of genetic information.
M. Aitken 1,2 , M. B. Delatycki 1,3 , L. Skene 2 , L. E. Forrest 1,2 ;
1 Murdoch Childrens Research Institute, Parkville, Australia, 2 University of Melbourne,
Melbourne, Australia, 3 Genetic Health Services Victoria, Melbourne,
Australia.
Communicating genetic information in families can be problematic.
Often important information about a person’s own health or their reproductive
health (or both) is not transmitted to all at risk relatives.
Guidelines from peak bodies are general and fail to address how genetic
health professionals should facilitate communication to at-risk
relatives. The authors are investigating families’ experiences of communicating
genetic information and whether there is a greater role for
genetic health professionals within this experience. Qualitative interview
data from consultands and focus groups with genetic health professionals
has revealed:
1) Consultands feel overwhelmed with information after genetic counselling
and their priority is to manage the health and social aspects
of the genetic condition, relegating telling family members to a lower
priority.
2) Consultands usually communicate with first degree relatives, however
often pass responsibility to their parents to tell other siblings and
second and third degree relatives. Further decisions are made about
whom to tell based on social bonds and a feeling of moral obligation.
Hence communication occurs in an ad hoc manner, over time.
3) The accuracy of information and the message may be lost.
4) Both health professionals and families want assistance in facilitation
of communication in families.
These data demonstrate the need for further evidence to inform best
practice for genetic health professionals dealing with communication
of genetic information in families.
P1342. Should Individuals be Informed about their Salt
Sensitivity Status? First Indications of the Value of Counseling
on Genetic Predisposition to Low-Risk Conditions
C. M. R. Smerecnik 1 , I. Mesters 1 , H. Van Keulen 1 , I. Scheffers 2 , E. Beeks 2 , P.
W. De Leeuw 2 , N. K. De Vries 1 , H. De Vries 1 ;
1 University Maastricht, Maastricht, The Netherlands, 2 University Hospital Maastricht
and Cardiovascular Research Institute Maastricht (CARIM), Maastricht,
The Netherlands.
The present study examined the possible pathways for positive effects
of genetic testing for relatively ‘low-risk’ conditions by (1) exploring the
impact of being tested for one’s genetic predisposition on intention and
(2) exploring and comparing the determinants of the intention to restrict
salt intake with and without a genetic predisposition to being saltsensitive.
In a cross-sectional within-subjects design, patients being
tested for genetic predispositions to salt sensitivity reported higher intentions
to restrict their salt intake in case their blood pressure should
prove to be salt-sensitive, confirming the value of genetic testing for
low-risk conditions. In case the blood pressure should prove to be saltsensitive,
intention was observed to be significantly associated with
general health, perceived severity, and self-efficacy, whereas the intention
in case no salt-sensitivity was predicted by perceived severity,
self-efficacy, and current stage of change. Overall, the results suggest
that genetic testing for low-risk conditions has a positive impact on
the motivation to engage in preventive behavior. Furthermore, genetic
counselors should primarily focus on the severity of the genetic predisposition
and the feasibility of the recommended preventive behavior.
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