Modern, effective healthcare rests upon centuries of scientific advances and innovation that have been shown in clinical trials and other studies to prevent, cure or alleviate human disease. Every so often, a scientific advance offers new opportunities for making real advances in medical care. From the evidence given to this inquiry, we believe that the sequencing of the human genome, and the knowledge and technological advances that accompanied this landmark achievement, represent such an advance.
The 2003 White Paper, Our inheritance our future, recognised the potential impact of genetics and the genome project on our lives and our healthcare, and the importance of preparing the National Health Service (NHS) to be able to respond to this new knowledge. The investment that resulted from the White Paper enabled development of new genetics knowledge, skills and provision of services within the NHS. It targeted the diagnosis and treatment of rare single-gene disorders under the care of clinical geneticists based in Regional Genetics Centres and significantly advanced the capabilities and knowledge for managing these disorders. But the White Paper could hardly have anticipated the remarkable advances since 2003, including the charting of the genetic causes of a wide range of common diseases such as diabetes, coronary heart disease and several cancers. These scientific advances are with us now, and the use of genomic diagnostics to provide more rational and increasingly personalised management of common diseases has already started to permeate clinical practice in mainstream specialties across the NHS.
The new knowledge of these genomic studies is still very fresh. It will be several years, for example, before prediction of common diseases will lead to the realistic possibility of disease prevention. But the use of many types of genomic tests is increasing rapidly, both in the NHS and in tests sold directly to consumers, and the availability of these tests will, in time, have a dramatic impact on disease diagnosis and management. This is already placing strain on the expertise of doctors, nurses and healthcare scientists who at present are poorly equipped to use genomic tests effectively and to interpret them accurately, indicating the urgent need for much wider education of healthcare professionals and the public in "genomic medicine". Advances in genomic science will present challenges for delivering genomic tests across the mainstream specialties, suggesting the need for greater co-ordination and consolidation in "molecular pathology", with new models for service delivery.
Genomic advances also present opportunities for industry, with commercial opportunities in biotechnology as the power of genome sequencing methods continues to increase, and challenges and opportunities to the pharmaceutical industry who are increasingly using genetic testing in the drug development pipeline to develop more effective and safer drugs for which genetic tests are part of the prescribing process.
Scientific advances also present social, legal and ethical challenges, with increasing amounts of personal genetic information being generated for both research and healthcare, raising concerns about personal privacy, data security and the potential for discrimination. These challenges must be faced if an appropriate balance is to be found between legitimate use of genetic information in research and protection of individual choice and privacy.
In our inquiry, we have investigated these many aspects of genomic medicine, and make recommendations to ensure that the challenges afforded by advances in genomic science are met and the opportunities exploited. If our recommendations are taken forward, we believe that the UK will benefit in terms both of wealth generation and of improved health of the population.