2008 Barcelona - European Society of Human Genetics

EMPAG Plenary Lectures
have implications for the facilitation of ‘autonomous’ informed choice
in the testing context .
EPL4.3
‘Balance’ is in the eye of the beholder: perceptions of balanced
information to support informed choices via AnsWeR (Antenatal
screening Web Resource)
S. Ahmed, L. D. Bryant, J. Hewison;
University of Leeds, LEEDS, United Kingdom.
Objectives: AnSWeR (Antenatal Screening Web Resource), designed
to support informed choices in prenatal testing, aims to provide balanced
information about disability from the perspective of disabled
people and their families . Following our independent evaluation of
AnSWeR, this paper presents participants’ evaluation of AnSWeR in
terms of providing balanced information . Setting: U .K . Method: Eight
focus groups with health professionals, participants from the general
population, and parents with personal experience of the conditions .
Questionnaires were completed by parents of newborns, people with
spina-bifida or cystic fibrosis, and fifteen professionals with special expertise
in this area . Findings: Information about experiences of living
with the tested-for conditions and terminating affected pregnancies was
considered important to support informed decisions . However, participants
differed in their perceptions of whether the information about the
tested-for conditions was balanced . For example, participants believed
that photographs of people with the tested-for conditions introduced
biases - both positive and negative . Within the context of supporting
informed choice, participants also talked about the significance of
providing information about women’s experiences of terminating affected
pregnancies. Conclusion: This study highlights the difficulty of
designing ‘balanced’ information about tested-for conditions and a lack
of methodology for doing so . We conclude that AnSWeR provides a
counterbalance to other websites that focus on more medical aspects
of disability . Its aim to provide ‘balanced’ information would be aided
by increasing the number and range of case studies available on the
website, for both family members and individuals living with the testedfor
conditions, and women terminating affected pregnancies .
EPL4.4
testing times, challenging choices; women, prenatal testing and
genetic counselling
J. M. Hodgson 1 , M. A. R. Sahhar 1,2 , L. H. Gillam 1,3 , S. A. Metcalfe 1,3 ;
1 Murdoch Childrens Research Institute, Melbourne, Australia, 2 Genetic Health
Services Victoria, Melbourne, Australia, 3 University of Melbourne, Melbourne,
Australia.
Although prenatal testing is increasingly considered to be a ‘routine’
part of many women’s pregnancy experience it is unclear how women
experience this process or whether they are making informed decisions
to participate . Genetic counselling exists to support women at
this time but there is a dearth of research exploring either prenatal
genetic counselling process or women’s experiences . This research
aimed to:-
•explore the experiences of women who received an increased result
from a prenatal screening test, attended genetic counselling and made
a decision about diagnostic prenatal testing
•examine, in detail, the process of prenatal genetic counselling
Women attending genetic counselling following an increased risk result
from a screening test were invited to participate . Two data sets
were obtained:-
1 . 21 genetic counselling sessions were audiotaped, transcribed and
analysed using content and discourse analysis (Data set 1)
2 . 15 semi-structured follow up interviews with women from Data set 1
were audiotaped, transcribed and analysed thematically (Data set 2)
Rigorous qualitative research methodologies produced rich insights
into counselling process and evocative accounts of women’s experiences
. Most women reported high levels of distress and decisional
conflict and many women did not make an informed choice to participate
in either screening or diagnostic testing. Research findings and
theoretical literature are used to demonstrate that facilitating informed
choices is an ethically appropriate model for prenatal genetic counselling
practice. A contemporary model for practice, specifically addressing
women’s distress and actively encouraging clients to deliberate
fully, is proposed and critiqued .
EPL4.5
„it‘s something i need to consider“: women‘s decisions about
population carrier screening for fragile X syndrome
A. D. Archibald 1,2 , A. M. Jaques 1 , S. Wake 3 , S. A. Metcalfe 1,2 ;
1 Murdoch Childrens Research Institute, Melbourne, Australia, 2 University of
Melbourne, Melbourne, Australia, 3 Genetic Health Services Victoria, Melbourne,
Australia.
Population carrier screening for fragile X syndrome (FXS) identifies
carriers, and provides information for reproductive decision making .
Few studies have explored women’s decisions when offered carrier
testing for FXS through a population screening program . This study
is an in-depth exploration of factors that influenced women’s choice
regarding the carrier test .
In Victoria, Australia a pilot study was conducted offering carrier screening
for FXS to women in a pre-conception setting . Women completed a
questionnaire, were offered screening, and completed a second questionnaire
one month later or after receiving their result . A selection of
women then participated in follow-up interviews .
318 women participated in the study and 20% of women chose testing
revealing one pre-mutation carrier and three grey zone results . 31
women were interviewed: 13 who chose to be tested, including three
with positive results (two grey-zones, one pre-mutation); and 18 who
chose not to be tested .
Factors that influenced test choice included: the woman’s perception
of the benefits of screening, her life stage and whether she had prior
experience with health related issues . No women who were tested regretted
their decision and it was clear that providing women with time
aided the decision making process . Overall women were supportive of
population carrier screening for FXS in a pre-conception setting .
This is the first attitudinal study to include women who declined
screening as well as those who accepted . These results provide valuable
insight into factors that influenced women’s decisions regarding
testing and will help inform future development of carrier screening
programs .
EPL5.1
Verification of consumers’ experiences and perceptions of
genetic discrimination and its impact on utilisation of genetic
testing
K. K. Barlow-Stewart 1 , S. Taylor 2 , S. Treloar 3 , M. Stranger 4,5 , M. Otlowski 4,5 ;
1 The Centre for Genetics Education, Sydney, Australia, 2 Department of Social
Work and Human Services, Central Queensland University, Rockhampton, Australia,
3 Centre for Military and Veterans’ Health, The University of Queensland,
Brisbane, Australia, 4 Centre for Law and Genetics, University of Tasmania,
Hobart, Australia, 5 School of Law, University of Tasmania, Hobart, Australia.
A major component of the Australian Genetic Discrimination Project
2002-5 was to undertake a systematic process of verification of consumer
accounts of alleged genetic discrimination, defined as the differential
treatment of an asymptomatic person on the basis of their
real or assumed genotype or genetic characteristics . Asymptomatic individuals
reporting incidents in a survey conducted through Australian
clinical genetics services 1998-2003 were recruited for the subsequent
verification process. Others were recruited through genetics support
groups and referrals from clinical genetics professionals. Verification of
alleged incidents of genetic discrimination was determined, with consent,
through interview, document analysis and, where appropriate,
direct contact with the third party involved . Reported incidents of negative
treatment in life insurance, employment, and health service domains
met criteria for verification in 27/99 instances. Verification was
possible in 14 cases (7 breast and ovarian cancer; 3 HNPCC; 3 Huntington
disease and one each of hereditary haemochromatosis and
polycystic kidney disease) . All involved life insurance products . Issues
included fear of genetic discrimination that impacted upon uptake and
access to genetic testing for relatives; overly broad exclusion clauses;
inability to increase policy amount; denial of insurance; coercion to
access genetic test results and lack of recognition of prophylactic and
screening strategies in underwriting decisions. In the course of verification,
the decision-making process underpinning the life insurance
underwriting was elucidated and reversal of adverse decisions following
challenges to the company or provision of expert clinical genetics
advice was confirmed. Verification is a potentially fruitful but a complex
and challenging process .