Integrated regional genetic services: current and future provisionCommentary: The future development of regional genetic services will rely on partnerships
BMJ 2001; 322 doi: https://doi.org/10.1136/bmj.322.7293.1048 (Published 28 April 2001) Cite this as: BMJ 2001;322:1048
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Integrated regional genetic services: current and future provision
- Dian Donnai, professor of medical genetics (ddonnai@central.cmht.nwest.nhs.uk),
- Rob Elles, consultant clinical scientist
- University Department of Medical Genetics and Regional Genetic Service, Central Manchester Healthcare Trust, St Mary's Hospital, Manchester M13 OJH
- a Medical Genetics Service for Wales, University Hospital of Wales, Cardiff CF4 4XW
- b Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN
- Correspondence to: D Donnai
- Accepted 15 March 2001
This is an important time in the history of genetics. Now that we have the sequence of the human genome in “working draft” form commentators predict a huge increase in activity in genetic medicine. Here we describe how the benefits of this rapidly expanding knowledge are being brought to the UK population as genetic services, and how they may develop in the future. Few doubt that medicine will be increasingly founded on the understanding of genetics and underpinned by testing. The biggest uncertainty concerns the large scale genetic screening of healthy people for susceptibility to common diseases: how widely this will happen, how soon, and how it might be organised.
Summary points
UK genetic services are based on a network of geographical centres offering specialist services to families at high risk of serious genetic disorders
Regional genetic centres provide diagnosis, risk estimation, counselling, surveillance, and support
Links with secondary and tertiary specialists are established, and links with primary care are being developed
Genetic counsellors have a key role in the delivery of integrated services
Genetic testing is already helping many families at high risk and in the future will play a central part in the clinical management and prescribing practice for all specialties
The role of testing for genetic variants predisposing to common diseases has yet to be established
Methods
Our information derives from the experience of the regional genetic centres in 12 UK health regions and international comparisons reported in recent scientific and official publications. Our vision for the development of integrated genetic services draws on these sources, recent initiatives to commission genetic services, and the literature on the impact of the new genetics in medicine.
Genetic centres
Special skills
Access to and overview of the latest science
Clinical diagnosis of rare genetic syndromes
Laboratory (DNA and chromosomal) diagnosis
Interpretation and integration of complex …
Correspondence to: D Ravine
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