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Genetics is here to stay, and with the publication of a new government White Paper, the NHS is preparing for a new era in healthcare provision as the clinical applications of genetic research continue to expand. HILARY BURTON, consultant in public health medicine, Public Health Genetics Unit, LYNNE WATSON, health visitor for children with special needs, Richmond and Twickenham PCT, and PHILIPPA BRICE, scientific officer, Public Health Genetics Unit, look at the implications for healthcare professionals working in the community
With the recent sequencing of the human genome and the rapid advances in understanding of human genetic information, genetics is set to make a huge impact on all aspects of health care.
From the identification of disease-related genes for diagnosis and the development of novel therapeutics, through to the study of genes that determine individuals' risk of common diseases and likely reaction to drugs, genetics will undoubtedly become increasingly prominent in both the prevention and treatment of disease. Increasingly, these new approaches will become elements of primary care, and so in the future, an understanding of genetics will be essential for community practitioners.
The potential of genetics in the NHS
The recent government White Paper Our inheritance, our future: realising the potential of genetics in the NHS1 sets out the key areas within the NHS where genetic approaches are expected to become increasingly prominent and outlines the government's plans for investment in genetics services.
Currently, most NHS applications of genetics relate to inherited disorders caused by defects in a single gene or chromosome, such as cystic fibrosis or haemophilia. Altogether, there are around 10,000 known single gene disorders.
Genetic testing is currently available for some 200 of these disorders, and is used both to confirm diagnosis and also to screen antenatally and neonatally for the presence of certain genetic diseases such as Down's syndrome.
Families with inherited disorders are referred to specialist geneticists for investigation and discussion of probable outcomes for affected family members, and implications for the rest of the family (such as whether they may carry a defective gene).
The White Paper outlines the alternative applications of genetics within the health service. These include genetic testing for common diseases such as diabetes, heart disease and cancer. Although these disorders are controlled not...