Bioethics, Genetic Counselling: Aspect of Theologians, Physicians and Geneticists in Iran

M. Saniee¹, E. Jafari Mehr¹, S. Sayar¹, S. Shahraz¹, L. Zahedi¹, A. Melati Rad¹, R. Sherafat Kazemzadeh¹, A. Shekarchi², M. Zali¹;
¹Research Center for Gastroenterology and Liver Diseases, Shaheed Beheshti University of Medical Sciences, Tehran, Islamic Republic of Iran, ²Department of Sociology, Shaheed Beheshti University, Tehran, Islamic Republic of Iran. saniee50@yahoo.com

Introduction: Genetic counselling sessions are rich and complex sites of accounting practices for decision-making in which clinicians are meant to facilitate rather than control the decisions made by their clients. Counsellors engaged in genetic counselling are ethically obligated to provide prospective parents with the basis for an informed decision for childbearing.
This study did for determining the attitude's professionals towards ethical issues in conducting of genetic counselling.
Material & methods: The group used questionnaire and face to face interview for data gathering. For data analysis, researchers applied the descriptive analysis.
Results: Eighty four percent agree with the parents' right to choose genetic counselling and screening. A majority of participants (83.3%) believe that counselling about performing screening decreases disability in the new generation. most of volunteers (71.0%) disagree with increasing an emotional trauma into mothers. About 52% of them said that counselling of the result of genetic screening, persuade mothers into terminating pregnancy and abortion before ensoulment period, but eighty one percent disagree that we don't use this diagnosis test because of failing fetus in prenatal screening. And, seventy four percent disagree that labeling individuals as being at risk of a disorder cause anxiety and invulnerability.
Conclusions: We face a positive attitude of all respondents to the benefits of genetic counselling. This study is part of a series in which we have attempted to gather and report the opinions of the scholars and religious thinkers in Iran regarding the bioethical considerations of genetic counselling.

European CF survey: results of a European concerted action on the identity and frequency of CFTR gene mutations among Turkish and North African CF patients in Europe

P. Lakeman^1,3, J.J.P. Gille¹, J.E. Dankert-Roelse², H.G.M. Heijerman⁴, M.C. Cornel^1,3, L.P. ten Kate^1
1Department of Clinical Genetics and Human Genetics, ²Department of Paediatrics, Paediatric Pulmonology, ³Institute for Research in Extramural Medicine (EMGO Institute), VU University Medical Center, Amsterdam, The Netherlands; ⁴Department of Pulmonology, HagaHospital, The Hague, The Netherlands. p.lakeman@vumc.nl

Background: It is well known that mutation spectra of the CFTR gene vary between populations, even within Europe. Knowledge of these mutation spectra is needed for diagnostic purposes, for counselling in CF families and for screening, either neonatal to improve prognosis, or preconceptional and prenatal to provide for reproductive options. There is only limited knowledge about the mutation spectra in migrant populations in Europe.
Objectives: To determine the identity and frequency of mutations found in Turkish and North African CF patients and to study whether the test-sensitivity of common CFTR gene mutation panels is appropriate for Mediterranean people when offering CF-carrier screening.
Methods: In a survey among 373 European CF-centres, we asked whether and which mutations have been found among Turkish and North African CF-patients.
Results: Fifty-one different mutations had been found on 75.2% (95%CI: 70.4-80.0%) of CFTR alleles of patients (n=156) with both parents from Turkey or North-Africa. The mean sensitivity of common CF-gene mutation panels to detect these mutations was 50.6% (95% CI: 45.0- 56.2%), and differed significantly between Turkish and North African people: 41.7% (95% CI: 34.7-48.6%) versus 66.4% (95% CI: 57.7-75.2%). A sensitivity of 63.6% (95% CI: 58.2-69.0) can be achieved by expanding the mutation panels with Mediterranean mutations.
Conclusion A low test-sensitivity of common CF-gene mutation panels for CF-carrier screening of Mediterranean people was observed. This raises questions on whether and how to implement CF-carrier-screening in a multi-ethnic society.

At the American Crossroads of Culture, Ethnicity and Biotechnology: The New Genetics and Alcohol and Alcoholism

Charles Kaplan
Behavioral Assessment, Inc.
Beverly Hills, USA

Increases in alcohol and alcoholism have created a need for a changed American policy based on medical science. The new genetics emphasizing the interaction between environmental and biological factors is increasingly sensitive to the cultural aspects of ethnicity and religiosity. American genetic research is creating new tools for diagnosis, treatment and prevention. Cultural factors present both a formidable challenge and promise in the utilization of these tools. The American interest in new genetic solutions may not be as historically constrained as the European. California provides an example. Specific ethnic integration practices and boundless optimism towards the new biotechnology distinguishes American culture from its European counterpart. The future of genetic solutions to alcoholism will depend upon whether these American cultural characteristics will be sustained.

Towards measurement of clinical validity and utility of genetic testing in Europe

P. Javaher, J. Schmidtke;
Medical School of Hannover, Hannover, Germany. javaher.poupak@mh-hannover.de

In recent years a great deal of attention has been paid at the national and international level to develop policies in the field of genetic service provision. Eurogentest aims at addressing the challenges through an European Network of Excellence (NoE) in genetic testing by involving experts from across Europe and developing infrastructure, resources, guidelines and procedures that will structure, harmonise and improve the overall quality of all European genetic services.
We examined access to and uptake of as well as funding policies and costs of genetic testing in 6 European countries and received responses from presidents of human genetics societies from following countries with populations ranging from 5 to 80 million: Finland, Sweden, Portugal, UK, France and Germany.
The comparison between these countries indicates differences and similarities, such as a similar increase of DNA-based testing in Germany and the UK from 1999 to 2002 despite considerable differences in system regulation. In Sweden, DNA diagnostic and PND cytogenetic testing raised from 1996 to 2003, with PND testing increasing by a factor of 1.5. Whereas approximately 21,000 DNA-based tests per year are performed in Finland with a population of 5 m, only about 12,000 are performed in Portugal with a population of 10 m and at a relatively high price level in comparison with other countries.
There is as yet no consensus within the scientific how to measure clinical validity and clinical utility of genetic testing. Therefore further investigations are strongly needed and standards are to be developed to give general guidance.

Public Health Genomics European Network (PHGEN) in a new EU health strategy

A. Brand, P. Schröder, R. Zimmern, H. Burton, T. Schulte in den Bäumen, H. Brand on behalf of PHGEN
German Center for Public Health Genomics (DZPHG), Social Medicine/Public Health, University of Applied Sciences, Bielefeld, Germany. angela.brand@fh-bielefeld.de

Issue/problem: To consider genetic determinants as a factor contributing to health and as such as a component for public health is a necessary step to enable good health for all. Thus, genetic determinants have to play an eminent role in a new EU health strategy.
Description of the project: To create sound genome-based policies and programmes public health should get involved and moreover take the lead by applying the three core functions of public health (assessment, policy development, assurance) to the provision of health care services (health promotion, prevention, therapy and rehabilitation).
The European Commission has in its report on “Life Sciences and Biotechnology” (COM(2004) 250, April 7th 2004) committed itself to gain high quality in genetic testing and to increase “co-operation and exchange of information in order to enhance coherence and disseminate best practice”.
Furthermore, in the work plan 2005 of the “community action in the field of public health” the European Commission calls for an application for a “networking exercise … to lead to an inventory report on genetic determinants relevant to public health…”
Lessons learned: The Public Health Genomics European Network (PHGEN) has been funded by the European Union to
• conduct a networking exercise on Public Health Genomics (PHG) covering all EU Member States, Applicant Countries, and EFTA-EEA countries
• identify and list key experts relevant to PHG in these countries
• provide an inventory of genetic determinants relevant to public health
• provide an inventory of PHG-issues and priorities in Europe
• contribute to the co-operation and exchange of information in order to enhance coherence and disseminate best practice
• identify legal diversities and barriers in a cross-border market
• promote and stimulate the countries’ efforts in this emerging field by developing PHGEN and by supporting effective networking in order to reach sustainability
• develop links with relevant European Community programmes and actions and with national and regional initiatives, in order to promote synergy and avoid overlaps
• contribute to a high level of health protection and improvement of public health
Thus, in the long run, PHGEN will serve for the European Commission as an “early detection unit” for horizon scanning, fact finding, and monitoring of genetic determinants relevant to public health.
Conclusions: The next decade will provide a window of opportunity to establish infrastructures, across Europe and globally, that will enable the scientific advances to be responsible, effectively and efficiently translated into evidence-based policies and interventions that improve population health.
PHGEN involves experts from the fields of genetics and public health as well as representatives of relevant competent authorities from all EU Members States, Applicant Countries and EFTA-EEA countries. Experts on European law are involved in the networking exercise identifying legal diversities and barriers in the different countries and contributing to a European added value by thus working towards best practice recommendations. Representatives of European networks (e.g. EuroGenTest, EUnetHTA, Orphanet, NuGo) also participate in the network to ensure complementarity between EU-funded projects. In addition, representatives from organizations relevant to health (e.g. WHO, WTO, OECD, STOA) are invited to the meetings as observers. With these experts, regular meetings are held to work towards the aims named above.