Public Health Genetics in the United Kingdom
RL Zimmern
Public Health Genetics Unit, Cambridge, UK
Public health genetics is a new discipline. In the United Kingdom health professionals and policy makers in health departments have as yet little understanding of the future implications of developments in genetics on disease prevention or on health services. The Public Health Genetics Unit was established in 1997 to rectify this situation. This paper describes the structures responsible for policy issues for genetics in the UK, the establishment of the Unit, its links to government and other organizations, and early findings from a project run jointly between the Nuffield Trust, an independent health policy unit, and the Unit.
The Nuffield Trust Genetics Scenario Project aims is to assess the impact of advances in genetics and molecular biology on the organization, funding and provision of clinical services, on changes in clinical practice, and on the potential for disease prevention and public health medicine. The project has used a standardized process to elicit the views of eight separate stakeholder groups on the key issues arising from the impact of genetics on clinical practice, and on the ethical and social implications of genetic science. The insights gained have been analyzed alongside the results of a literature review of the policy issues. The output from this process forms the basis of a two day policy development workshop where the participants create a consensus scenario of the future and make policy recommendations which might harness the benefits of the science while regulating and preventing the consequential ethical and social pitfalls.
The Abstracts of the Second National Conference on Genetics and Disease Prevention, Baltimore, MD, December 6-8, 1999, will be published in COMMUNITY GENETICS. For more information please refer to the journal home page  . © 1999 S. Karger AG, Basel.
Services for the Prevention and Management of Genetic Disorders and Birth Defects in Developing Countries
VB Penchaszadeh1, A Christianson2, R Giugliani3
1 Beth Israel Medical Center, New York, NY, 2 University of Pretoria, South Africa, 3Federal University of Rio Grande do Sul, Porto Alegre, Brazil
Genetic diseases and birth defects occur in developing countries at equal or higher frequencies than in the industrialized world and their impact on health and quality of life is greater because of deficient services and the load of infections and malnutrition. An Advisory Group constituted mostly by geneticists from 13 developing countries was convened on January 5-7, 1999 by the World Health Organization and the World Alliance of Organizations for the Prevention of Birth Defects, to address the lag of genetic services in the developing world and make recommendations for their growth. As rapporteurs of the meeting, we present its main conclusions and recommendations: need that health professionals and public health officials of developing countries recognize the burden imposed by birth defects and genetic disorders; need for political will and commitment for their prevention and management; define goals of genetic services in terms of individual and family well-being as well as of public health; improve reproductive health, prenatal and newborn care with particular attention to maternal age, nutrition and teratogen avoidance; organize comprehensive genetic services integrated to other relevant health services, rooted in the primary care level, with proper referral channels to existing genetic centers; prioritize prevention programs and service targets according to prevalence, severity and predicted outcomes of interventions; train health professionals in genetics; educate the public in genetics; encourage the formation and support of parent/patient organizations; respect ethical principles and cultural diversity.
The Abstracts of the Second National Conference on Genetics and Disease Prevention, Baltimore, MD, December 6-8, 1999, will be published in COMMUNITY GENETICS. For more information please refer to the journal home page . © 1999 S. Karger AG, Basel.
Maternal Serum Screening in France: Evaluation of a National Policy
S Ayme, N Costet, V Seror
Institut National de la Santé et de la Recherche Médicale (INSERM), Villejuif, France
Serum marker screening for DS started in 1990 as a pilot study supported by the Ministry of Health. The vote of a Law on Bioethics in 1994 was followed in 1995 by the publication of decrees strictly regulating serum marker screening. All the physicians had to inform pregnant women about the availability of the test and to counsel them in a non-directive way. The decision to fully reimburse both the test was taken only in January 97. The uptake rate of serum marker screening was 10.4% in 1994, 19.7% in 1996 and 76.3% in 1998. Last year 484,256 tests were performed by 60 laboratories. The number of tests per lab was ranging from 141 to 80,000. To evaluate whether women were satisfied with the screening procedures a survey was performed in October 1998. A questionnaire was mailed to all women screened during three days. The response rate was 36.5% if the labs really distributed all the questionnaires. From the 1490 questionnaires returned, it appears that 52% of women knew already about the test. Overall 90.5% had a counseling session prior to the test and 83.9% signed an informed consent which is mandatory by the Law. The satisfaction rate is 64.8%. These results will be commented. France is the only country with a national policy.
The Abstracts of the Second National Conference on Genetics and Disease Prevention, Baltimore, MD, December 6-8, 1999, will be published in COMMUNITY GENETICS. For more information please refer to the journal home page . © 1999 S. Karger AG, Basel.
The Achievements of Antenatal Screening Program for Congenital Abnormalities and Lessons Learned for Clinical Governance
A Layla, Department of Epidemiology and Public Health, University of Wales College of Medicine, Cardiff, Wales
An earlier report on antenatal screening for Down syndrome in a South Wales District has identified sub-standard and variable practices. A multidisciplinary Professional Advisory Group was set up in 1996 to review the service and recommend a program of care and quality outcome measures to form the standards for audit and evaluation. The program drew heavily on evidence-based practices and the opinions and aspirations of expectant mothers, which were 'the keystone' that influenced the change. This was the first organized attempt at standardization of the screening practices for congenital abnormalities in Wales. More than one year on, we have achieved several goals. Each obstetric unit now has a named Screening Midwife Specialist. We have established the first UK specifically tailored midwifery genetic course. Lack of leadership in fetal medicine and ultrasound scanning was identified in one Trust resulting in the appointment of two additional sonographers and a consultant obstetrician. A new district wide, annually updated information booklet for the expectant mothers was produced. A new information system was installed in each maternity unit to facilitate audit of outcome. Several clinical, biochemical and cytogenetic indicators were specified as quality outcome indicators and were collated and compared with the recommended standards. The uptake of serum screening has declined from around 95% to 75% in two units (to 62.9% overall, closely resembling the expected percentage). Amniocentesis has been reduced as women thought more clearly about their options and limitations of tests. An enthusiastic public health lead was essential in initiating and maintaining the change program.
The Abstracts of the Second National Conference on Genetics and Disease Prevention, Baltimore, MD, December 6-8, 1999, will be published in COMMUNITY GENETICS. For more information please refer to the journal home page . © 1999 S. Karger AG, Basel. |
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