2008 Barcelona - European Society of Human Genetics

EMPAG Posters
In collaboration with the Bogota Health Service (Ministry of Health and
Social Protection of Colombia), the Medical Genetics group of the Colombian
Association of Human Genetics, and the University of Warwick
(UK), we observed 25 genetic consultations in Colombian genetic
clinics and undertook semi-structured interviews with the participants
before and after the consultation . Thematic analysis of the interview
transcripts demonstrated widespread mismatches between practitioner
perception and patient comprehension . Effective communication
was inhibited by patient, family, practitioner and environmental factors .
Principal among these were excessive administrative procedures, interruptions
during the consultation, patients’ lack of attention to medical
terminology, excessive information given in one session, beliefs and
education level of the patient and/or relatives, patient distress caused
by bad news, unfulfilled expectations and no availability of treatment.
We also interviewed 20 medical consultants working in genetics services
. There was general agreement that genetic counselling in Colombia
was problematic, and that more training in communication skills
was required at Medical schools . Many physicians did not believe that
other health professionals should work as genetic counsellors . There
was a widespread recognition of limited genetic knowledge in most
medical specialities .
These findings will inform the future development of an effective and
robust genetic counselling service in Colombia . They will also be used
in the development of the academic curriculum related to basic and
clinical genetics at Colombian Universities .
EP10.15
communication of genetic information in families: Funding for a
randomised controlled trial of a genetic counselling intervention.
M. Aitken 1 , M. Delatycki 1,2 , L. Skene 3 , I. Winship 4 , S. Donath 1 , V. Collins 1 , J.
Hodgson 1 , S. Metcalfe 1 , C. Gaff 5 , J. Halliday 1 ;
1 Murdoch Childrens Research Institute, Parkville, Australia, 2 Bruce Lefroy Centre
for Genetic Health Research, Parkville, Australia, 3 Law School University of
Melbourne, Parkville, Australia, 4 Royal Melbourne Hospital, Parkville, Australia,
5 Genetic Health Services Victoria, Parkville, Australia.
When a person receives a diagnosis of a genetic condition for themselves
or for their child, many of their at-risk relatives remain unaware
of this information . This has important health implications, at present
usually in families with single gene disorders, but in future for complex
disorders and pharmacogenomics, toxicogenomics and nutrigenomics
. How should important information that will reduce morbidity and
mortality be communicated?
The aim of this study is to investigate whether a genetic counselling intervention
will result in increased access to genetic services by family
members at risk of serious genetic conditions . We have been funded
to conduct, a randomised controlled trial to assess the effectiveness of
intense genetic counselling follow-up on the numbers of at-risk relatives
utilising genetics services . The intervention will be developed using
appropriate theoretical approaches such as family communication
and family systems theory . Clients presenting to a clinical genetic service
for diagnosis or genetic testing will have the number of at-risk relatives
recorded . Following randomisation into an intervention or control
arm, the number of those at-risk relatives who utilise genetics services
will be compared .
This multi-disciplinary study will determine whether a genetic counselling
intervention improves information exchange in families while also
exploring the issues that arise . The ultimate aim of this study is to provide
evidence to enable best practice both nationally and internationally
for the accurate and efficient communication of genetic information
in families for the promotion of their health and well being .
EP10.16
mutations of self-other relations in genetic counseling discourse
S. Sarangi, A. Clarke;
Cardiff University, Cardiff, United Kingdom.
Drawing upon the seminal work of George Herbert Mead which underscores
how the ‘self’ is conceptualised as a socially situated reflexive
process made possible through the perception of alterity, we propose
that the notions of self and other can be understood at a relational level
along three possible configurations - ‘self-as-other’, ‘self-and-other’
and ‘self-vs-other’ . The counselling and therapeutic settings, with their
narrative and reflection orientation, give primacy to the `presentation’
and `performance’ of the ‘self’, as can be argued from a Goffmanian
dramaturgical perspective .
Based on a theme-oriented discourse analysis of over 50 audio-recordings
of genetic counselling sessions covering a range of conditions,
we suggest that different familial lines are mutated along self-other
categorisations, reflecting not only the genetic status of the individual
concerned but also the trajectories of past and present familial relations
. This means that decisions to test and decisions to disclose test
procedures/results have to be other-oriented . As far as an individual’s
genetic status is concerned, the ‘carrier’ status of a family member
may necessitate a different self-other orientation when compared with
someone’s ‘affected’ and ‘at-risk’ status .
In conclusion, we argue that in genetic counselling, both counsellors
and clients have to be other-oriented by ‘decentering the self’ while
balancing self-other relations by warranting, explicitly, situated differences
and contingencies . The counsellor by seeking `other’ perspectives
becomes other-oriented, which simultaneously makes the client
other-oriented. Such a stance conflates, following Mead, the ‘self-asother’
and ‘self-and-other’ positions .
EP10.17
To develop and translate a set of leaflets for patients and
families across Europe, that provide information on issues
related to genetics and genetic testing
C. Lewis 1 , A. Kent 1 , H. Skirton 2 , D. Coviello 3 ;
1 Genetic Interest Group, Islington, United Kingdom, 2 Faculty of Health and
Social Work, Plymouth University, United Kingdom, 3 Fondazione IRCCS, Ospedale
Maggiore Policlinico,, Milan, Italy.
Aim: To develop and translate a set of leaflets for patients and families
across Europe, that provide information on issues related to genetics
and genetic testing (part of the EuroGentest project) .
Leaflet development: A set of 11 patient information leaflets were developed
on topics related to inheritance patterns and genetic testing .
The themes of the leaflets were decided by a panel of professionals
and patient group representatives. The content of the leaflets was developed
with input from patients as well as by building on existing written
patient information. After the first draft the content and layout was
tested out with patients to ensure readability and ensure key topics
were covered. When the content was finalised it was checked by professionals
to ensure accuracy of the text and images .
Leaflet translation (currently underway): First, the content is checked
with genetic healthcare professionals in each country through a specifically
designed questionnaire. Adaptations are then made to the text
to ensure it is ‘country specific’. Translators are all bilingual genetic
professionals or PHD students who are recruited through universities
and genetic departments . Translations are cross checked by a second
bilingual genetic professional to ensure their accuracy. Leaflets
are then uploaded onto the EuroGentest website www .eurogentest .
org/patients to be freely downloaded by professionals and patients .
Leaflets are currently avialable in 8 languages, with 12 more to follow.
A new set of leaflets which will focus specifically on the psychosocial
aspects of genetic testing are currently underway .
EP10.18
i say, you hear: What do interpreters say when there are no
words.
M. I. Ross;
Victorian Clinical Genetics Services, Clayton, Victoria, Australia.
Monash Medical Centre is a busy hospital serving a multicultural population
in excess of one million people . Many clients are young refugees
and couples keen to have children now they have reached Australian
“safety” .
All pregnant women are offered serum screening for Down syndrome,
Trisomy 18 and neural tube defects . Women receiving an increased
risk for any of these conditions are referred for genetic counselling to
discuss their risk, the condition in question, and their choices .
Interpreters greatly assist our efforts to provide genetic counselling and
choices to these migrant couples, but it has become clear that there
are times when the clients simply do not understand what the central
issues under discussion are . This raises concerns that the decisions
made may not have a sound base . Terms such as risk, chance, chromosomes,
Down syndrome and spina bifida are a mystery to some.
In order to improve genetic counselling practise, interviews were conducted
with hospital interpreters to elicit what is said, especially when