Beyond the crystal ball
The epidemiology of some genetic conditions in Victoria 2002
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Foreword
A paediatrician once said to the parents of a tiny baby with a congenital condition: 'we don't have a crystal ball to tell you about the future of your child'. This concept of a fortune teller's crystal ball highlights the need to predict distant events for the child, the parents and the support services that may be necessary for the child to enjoy a high quality of life. For the parents of this newly diagnosed baby, such knowledge would enable them to make informed choices about the future.
Unfortunately, there is no crystal ball. Current scientific advances, such as the human genome project and associated technology, are moving rapidly and many diagnostic, prognostic and possibly curative technologies are imminent. However, even with these advances, the future of any one individual is still hard to predict, partly because the conditions are still very complex and may be expressed in many ways.
The major steps in an evidence-based public health approach are to define the extent of the problem, identify causes, develop tests and interventions, implement effective interventions and evaluate them. This descriptive epidemiology report is the first stage of enhancing surveillance of the incidence and prevalence of genetic disorders, and the impact of Victorian services. It is the initial stage of a coordinated public health surveillance system that describes the level of testing for, and the number of people with or carriers of, some common genetic conditions in Victoria. Service providers will find this information useful in planning services, for health advocacy, monitoring and evaluating programs, and for education and policy development. It will also provide further information about conditions for service users.
This report could not have been produced without the input and support of a large number of people and their organisations. These people are acknowledged in Appendix 1. In particular, I would like to thank the major advisors on the project, Dr Agnes Bankier and Dr Jane Halliday. They provided the inspiration for the project and advice on the content, structure and scope of the project. They also reviewed the document in its various drafts.
Dr John Carnie
Director Disease Control & Research and Deputy Chief Health Officer
Public Health Group
Rural and Regional Health and Aged Care Services Division
Department of Human Services, Victoria
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Contact information
Public Health Group, Department of Human Services
14th Floor, 50 Lonsdale Street
Melbourne, Victoria 3000
Enquiries:
Tel (61 3) 9096 0419
Feedback
This is the first time a report on the epidemiology of genetic conditions in Victoria has been attempted. The authors have consulted many in the field of genetics in the process of developing this report however the final responsibility lies with the authors. They also recognise that the information may be incomplete, may have been misinterpreted or may not be in an accessible form. We welcome feedback so that any future report will retain what has been useful, improve accessibility of the information, correct any errors and fill in some of the gaps. We also recognise that work in the field is moving at such a rapid rate there may be many changes to incorporate in the new report.
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To assist us in this endeavor we would appreciate you taking some time to answer these questions:
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 Beyond the crystal ball:
The epidemiology of some genetic conditions in Victoria 2002 (879kb, pdf)
Contents
Summary
Background
Introduction
Statewide Universal Screening Programs: The Newborn Screening Program
Phenylketonuria (PKU)
Congenital Hypothyroidism (CH)
Cystic Fibrosis (CF)
Statewide Non-Universal Screening Programs: Prenatal Testing Programs
Prenatal Testing - Full Blood Examination
Haemoglobinopathies
Prenatal Screening - Maternal Serum Screening
Neural Tube Defects
Chromosome Abnormalities
Chromosome Disorders
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Diagnostic, Predictive and Carrier Testing: Prenatal, Neonatal and Early Childhood Tests
Cystic Fibrosis
Fragile X
Metabolic Disorders
Other Metabolic Disorders
Myotonic Dystrophy
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD)
Dystrophinopathies (DMD/BMD)
Connexin 26 (35 delG)
Spinal Muscular Atrophy (SMA)
Diagnostic, Predictive and Carrier Testing: Adult Onset Conditions
Spinocerebellar Ataxia
Huntington Disease
Dentatorubral Pallidoluysian Atrophy (DRPLA)
Friedreich Ataxia
Adult Genetics - An Overview
Hereditary Thrombophilia
Haemochromatosis
Alzheimer's Disease
Pharmacogenomics
Glossary
Genetic Terminology
Abbreviations
Appendix 1 Acknowledgements and Data Sources
Acknowledgements
Relevant Reports
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