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

Genetic counselling, education, genetic services, and public policy
the governance of developmental genetics research in as diverse an
entity as the EU. The plurality of views on the status of the human
embryo and the resulting implications for collaborative science will be
explored.
P1310. Principles of Bioethics in the Universal Declaration on
the Human Genome and Human Rights
F. Emam, F. Mirzajani;
National Institute of Genetic Engineering & Biotechnology, Tehran, Islamic Republic
of Iran.
Looking at the bioethical discussions from management perspective,
it could be observed that those discussions are based on three policy
principles put forward in the provisions of the above Declaration: inherent
dignity of human beings , their fundmental unity and respecting
their human rights and freedoms. Strategical principles of bioethics aim
at the best interests of human beings and protection of public health
while respecting common genetical heritage of humanity. To achieve
the above objectives, independent, multidisciplinary and pluralist ethics
committees must be established in order to first assess the ethical,
legal and social issues raised by research on the human genome and
its application and second, to identify the practices that could be contrary
to human dignity, such as germ-line interventions.
Putting forward a comparative (Islamic-International) analysis of the
above principles, our paper tries to show the possible directions that
bioethics system of Iran can take. The paper finishes with proposals on
how to guide the system towards the best possible direction.
P1311. The twilight zone between health and sickness: A
qualitative exploration with asymptomatic BRCA1/2 mutation
carriers
E. Dagan 1,2 , S. Gil 3 , R. Gershoni-Baruch 1,4 ;
1 Institute of Human Genetics, Rambam Medical Center, Haifa, Israel, 2 Department
of Nursing, The Faculty of Social Welfare and Health Sciences, University
of Haifa, Israel, 3 School of Social Work, The Faculty of Social Welfare and
Health Sciences, University of Haifa, Israel, 4 Faculty of Medicine, Technion-Institute
of Technology, Haifa, Israel.
Harboring a germ-line mutation in BRCA1/2 genes increases the lifetime
risk for breast-ovarian cancer. Within the Ashkenazi population,
three predominant mutations were identified in 2.5% of this population,
resulting in the increased prevalence of hereditary breast-ovarian
cancer to 20% and 40%, respectively. The current study is aimed at
exploring the way in which healthy women at high-risk for developing
breast-ovarian cancer experience and give meaning to the dialectic
between being healthy and being at high risk.
Seventeen in-depth interviews with asymptomatic BRCA1/2 mutation
carriers were conducted. Analyzing the narratives revealed several
themes constructed around: Fears in Conflict - the continuous conflict
between the threat inherent in being a BRCA1/2 carrier and the fear
accompanying the prospect of a prophylactic surgeries in the absence
of clinical findings; Family Clock - the definition of personal risk in accordance
with the age of onset of their mother’s cancer “I hope that
nothing happens to me by the age my mother got sick.”; Illusion of
Control - the sense that knowledge is power: “I have always known
that I am a carrier. At least now, there is something I can do.”; The
Inner Mother - the way in which the women’s mothers coped with the
cancer shaped their own story of coping.
With growing knowledge about the contribution of molecular genetics
to multi-factorial diseases, these findings provide insight into individuals
whose lives hang in the balance between health and sickness, and
suggest ways in which geneticists can integrate family context into
their counseling practice.
P1312. Cancer in the Family - see your Geneticist! Who will go
and who won‘t.
B. Bernhard, S. M. Holloway, J. Campbell, M. E. Porteous;
Department of Clinical Genetics, Lothian University Hospitals NHS Trust, Edinburgh,
United Kingdom.
The National Health Service (NHS) Scotland prides itself of a health
care system that is free for all at the point of delivery and aims to
offer equal access to health provisions regardless of age, employment
status or socio-economic class. There are four regional genetic
centres in Scotland serving a population of 5 million and delivering
an integrated clinical and laboratory genetic service. The Scottish
Executive, the ministerial body for health issues, has taken the lead
in providing guidelines for genetic counselling, testing and screening
of individuals at risk of colorectal (CRC) and breast/ ovarian cancer
(BOC). Referrals to the Scottish genetics centres are ever increasing,
but questions remain whether individuals most at risk are adequately
accessing the service provided. We therefore investigated the referral
and attendance patterns of 4178 individuals from CRC and BOC
families at the South-East Scotland Clinical Genetics Centre between
2000 - 2006 with a particular emphasis on age, sex and social deprivation
indices. Patients from CRC and BOC families attending the genetics
service had lower deprivation indices than the general population.
Lower deprivation indices were more marked in the CRC group than
in the BOC group (p