On 24 June 2003, the long-awaited White Paper on Genetics was unveiled in Parliament by the new Health Secretary John Reid. The Paper promises a raft of new measures, supported by £50 million of investment over 3 years, to strengthen existing genetic services and to plan for the time when genetics and genetic technology will be increasingly integrated into a broad range of health services.

Plans for boosting existing specialist genetic services include a commitment to train more genetic counsellors and laboratory staff, and to invest up to £18 million over the next three years to enable NHS genetics laboratories to cut waiting times for test results. There are strong indications that there is likely to be a radical re-organisation of testing services in the future. The Paper calls for local bids for funding to develop strategies to "increase capacity and maximise quality", including options such as integrating genetics and pathology laboratory services, amalgamating existing laboratories and involving the private sector. Up to £1 million is pledged for improving IT systems used by laboratories in the UK Genetic Testing Network.

Genetics already plays a part in the detection and management of single-gene subsets of common disease, and the Paper announces new initiatives in this area. For example, a pilot programme of family 'cascade' tracing for familial hypercholesterolaemia will be set up, a model of care for people at risk of familial cancer will be trialled, and funding is announced for other initiatives "to bring the benefits of genetics into mainstream clinical areas".

Primary care genetics is identified as a high-priority area, with up to an additional £2 million of start-up funding available for new initiatives. Population screening programmes are also discussed but, with the exception of the imminent national antenatal and neonatal screening programmes for Down syndrome and some single-gene conditions (haemoglobinopathies and cystic fibrosis), are thought to be some way in the future.

Nevertheless, the Government rather surprisingly charges the Human Genetics Commission with the task of assessing the issues involved in screening all babies at birth and storing samples for future analysis through the child's lifetime.

Education and training of health professionals is identified as a priority for investment. An NHS Genetics Education and Development Centre will be established to identify the learning needs of different groups, develop appropriate curricula and produce learning materials. Web-based materials will be developed for a genetics section of the National electronic Library for Health and within NHS Direct. Support will be provided for commissioners and managers of genetic services, through a programme of local workshops.

Development of the evidence base and of robust IT systems will be essential if aspects of an individual's genetic profile are to be used to inform his or her healthcare. The White Paper outlines a programme of health technology assessment, much of which is already underway, and promises that genetics will be included in informatics initiatives such as the development of a unified medical terminology and of electronic patient records.

The research base in genetics is already strong and the Paper summarises initiatives such as the Genetics Knowledge Parks and UK Biobank. Gene therapy, pharmacogenetics and service research are particularly singled out for additional research investment. For example, a new university Chair and department in pharmacogenetics will be established, and pilot studies of 'near-patient' genetic testing (for example, to identify infectious agents) will be supported.

Gene therapy for single-gene diseases is seen as relatively disadvantaged compared to research on gene-based approaches to therapy for common disease, and this is redressed with a pledge of £5 million, half of which will go to research on gene therapy for cystic fibrosis.

The exploitation of intellectual property generated by NHS-funded research is seen as important for the health service and society as a whole. A Government-funded report on this issue will be published this summer.

In its final chapter, the Paper acknowledges the wider societal issues raised by developments in genetics and genomics, in the context of the need to maintain public confidence as new applications are developed. It outlines the Human Genetics Commission's work in addressing these issues, for example its recent reports on genetic information and on 'over the counter' genetic tests, but generally avoids specific policy commitments, except in announcing that it will introduce a new criminal offence of testing an individual's DNA without their knowledge or consent, and that it is working with other countries towards an international ban on human reproductive cloning.

Article courtesy of the Public Health Genetics Unit.