2008 Barcelona - European Society of Human Genetics

EMPAG Plenary Lectures
EPL5.2
the multiplex initiative: a study to determine who seeks free
multiplex genetic susceptibility testing among a healthy
population of American adults
C. M. McBride 1 , S. Hensley-Alford 2 , R. Reid 3 , E. Larson 3 , A. D. Baxevanis 1 , L.
C. Brody 1 ;
1 National Human Genome Research Institute, National Institutes of Health,
Bethesda, MD, United States, 2 Henry Ford Health System, Detroit, MI, United
States, 3 Group Health Cooperative, Seattle, WA, United States.
Genetic tests designed to provide individuals estimates of their disease
risk are now commercially available . In theory, this information
can be used to guide risk reduction behaviors . Currently, little is known
about who might avail themselves of such testing and how they would
interpret their test results . To understand the impact of such testing, we
developed a prototype genetic test including 15 polymorphisms associated
with increased risk for eight common conditions . Healthy adults
ages 24-40 receiving care at a large managed-care organization are
offered testing via Web-based information modules (http://multiplex .
nih .gov) . Individuals opting for testing receive test results by mail, with
telephone follow-up from a research educator; they are contacted
three months after receiving test results for a final telephone survey.
Our study design enables us to evaluate approaches that facilitate decision
making about genetic tests, assess methods for communicating
test results, and explore whether health system factors influence
health outcomes . Baseline surveys have been completed on ~1600
individuals. For most, this is their first experience with clinical research.
The majority of those completing the baseline survey are high school
graduates, married, self-report being in excellent or good health, and
are relatively familiar with their family’s health history . So far, 472 individuals
visited the Web site to consider testing; 272 have decided to
undergo testing . Factors regarding reviewing information about testing
on the Web and ultimate uptake of testing will be presented . Early
results are already providing insight regarding how healthy individuals
might respond to genetic susceptibility testing .
EPL5.3
Willingness for blood donation for genomic studies: a
comparative study between scientists and the public
K. Muto 1 , A. Nagai 2 , A. Tamakoshi 3 , I. Ishiyama 2 , K. Kato 4 , Z. Yamagata 2 ;
1 The University of Tokyo, Tokyo, Japan, 2 Yamanashi University, Yamanashi,
Japan, 3 Aichi Medical University, Aichi, Japan, 4 Kyoto University, Kyoto, Japan.
Objectives: To compare attitudes between scientists and the public in
Japan towards human genomic research and to seek new approaches
for better science communication, we conducted questionnaire surveys
and focused group interviews .
Methods: Self-reporting questionnaires were sent by post to 4,257
scientists regarding molecular biology and human genetics/ genomics
via two academic societies in Japan . They were asked about their
value and risk cognition towards genome sciences, social norms for
accountability and responsibility . We compared these results with the
data we obtained from 2,171 citizens in 2005 .
Results: A total of 1,494 completed our questionnaire (586 men and
157 women) . The total response rate was 35 .1% . Both groups support
genome sciences very positively . The main difference was observed
on willingness of blood donation for genomic research . 74 .8 % of the
scientist group responded that they were willing to donate for genomic
research regarding healthcare, while 39 .3% of the citizen group did .
Regarding the conditions for donation, the scientist group responded
that they would donate their blood when they could agree the research
purpose and significance (87.3%). On the other hands, most of the citizen
group responded that they would donate if researchers disclosed
personal results (78 .5%) . From the FGI data to students, their understandings
of “breach of personal information” and “disclosure of personal
analyzed data” were obscure and were influenced by the media
which criticized science . Discussion: We need to start discussions on
the process of disclosure of personal analyzed data to each research
participant for future human genomic research .
EPL5.4
Privatising susceptibility to disease: the need for regulation?
A. J. Clarke1 , I. Frayling2 , M. Arribas-Ayllon1 , S. Sarangi1 ;
1 2 Cardiff University, Cardiff, United Kingdom, University Hospital of Wales, Cardiff,
United Kingdom.
As genetic technologies continue to reach new areas of healthcare,
there are concerns whether genetic services might be compromised
by consumer-oriented practices, especially promoted via TV or the
internet . The marketing of genetic testing as capable of shaping lifestyles
through the forecasting of future health may promise consumers
more than the science can deliver, emphasising the supposed
‘benefits of knowing’ while downplaying the potential hazards. From
the professionals’ point of view, the marketing of commercial genetic
services may misrepresent the complexity and uncertainty of genetic
risk, obscuring reality with the fog of marketing . To illustrate our point,
we consider a recent reality-based TV programme, broadcast in the
UK, that documented the experiences of four ‘celebrities’ who consented
to testing in a private London-based practice . Our analysis of
the programme’s transcript will show how interactions with the clients
departed from established protocols of professional practice in several
ways: overestimating clinical validity, underestimating the clinical uncertainty
and the possibility of problems from test results, and practicing
inappropriately directive (`promotional’) counselling . How should
the genetics services community in Europe respond to such developments?
Our findings emphasise the already well recognised need for
the development of regulatory and legislative approaches to monitor
and/or prevent such practices . We consider several strategies for establishing
standards of professional practice . One important concern
is to ensure that too heavy-handed an approach does not inhibit the
appropriate development of genetic services offered in good faith by
non-specialist health professionals .
EPL5.5
Gene patents and diagnostics: numbers don’t count
N. Berthels1,2 , B. Verbeure1 , E. van Zimmeren1 , G. Van Overwalle1 , G. Matthijs2
;
1 2 Centre for Intellectual Property Rights, KULeuven, Leuven, Belgium, Center
for Human Genetics, KULeuven, Leuven, Belgium.
Gene patenting is allegedly abundant and hampering access to genetic
testing . This was given proof when Myriad Genetics exerted its
exclusive rights to BRCA1/2 . The case highlighted problems of patenting
and licensing of genes and methods for genetic diagnosis, and
laboratories’ ignorance to patents, infringement, and risk for being litigated
. In practice, laboratories usually lack legal expertise to engage
in patent analysis and licensing negotiations . Patent abundance could
create ‘patent thickets’, e .g . when many patents owned by several patent
owners relate to a single test, and complicate licensing .
We aim at elucidating the patent situation in genetic diagnostics . Detailed
patent landscape analyses of triplet repeat expansion diseases
- Fragile X, Huntington disease, spinocerebellar ataxia, Friedreich
ataxia, myotonic dystrophy, Kennedy disease - show patents’ validity
in time and territory, scope of protection, and, where possible, licensing
mode. Both in Europe and US, disease-specific patents are
granted, and applications under examination . Moreover, the patent
situation of these diseases is complicated by ‘generic’ patents relating
to their shared etiology . Broad in scope, these patents could also be
overlooked in disease-specific patent searches because of their nondisease-specific
nature.
In Europe gene patenting seems less abundant than proclaimed,
in contrast to the US where patent thickets, and overlapping patent
scope, are observed . Gene patent families not always have a European
equivalent, or the European patent has lapsed in most, or all,
countries . Despite low gene patent numbers in Europe as observed in
this study, caution should remain towards broad patents and potential
restrictive licensing conditions .
EPL6.1
Psychosocial impact of X-linked carrier status: Experiences of
Female Adrenoleukodystrophy carriers
J. Bowen 1 , R. Mountford 2 , L. Kerzin-Storrar 3 ;
1 Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation
Trust, Sheffield, United Kingdom, 2 Department of Medical Genetics, Liverpool
Women’s NHS Foundation Trust, Liverpool, United Kingdom, 3 Regional Genetic