Integrated regional genetic services: current and future provisionCommentary: The future development of regional genetic services will rely on partnerships

BMJ 2001; 322 doi: http://dx.doi.org/10.1136/bmj.322.7293.1048 (Published 28 April 2001)
Cite this as: BMJ 2001;322:1048

This article has a correction

Please see: Regional genetic centres could lead new service developments

Get access to this article and all of bmj.com for the next 14 days

Sign up for a 14 day free trial today

Access to the full text of this article requires a subscription or payment. Please log in or subscribe below.

Integrated regional genetic services: current and future provision

  1. Dian Donnai, professor of medical genetics (ddonnai@central.cmht.nwest.nhs.uk),
  2. Rob Elles, consultant clinical scientist
  1. University Department of Medical Genetics and Regional Genetic Service, Central Manchester Healthcare Trust, St Mary's Hospital, Manchester M13 OJH
  2. a Medical Genetics Service for Wales, University Hospital of Wales, Cardiff CF4 4XW
  3. b Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN
  1. 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

Get access to this article and all of bmj.com for the next 14 days

Sign up for a 14 day free trial today

Access to the full text of this article requires a subscription or payment. Please log in or subscribe below.

Article access

Article access for 1 day

Purchase this article for £20 $30 €32*

The PDF version can be downloaded as your personal record

* Prices do not include VAT

THIS WEEK'S POLL