Genomic Medicine - Science and Technology Committee Contents




1.1.  Scientists in the UK have contributed significantly to the rich history of achievement in genetics and genomics during the last six decades: from the discovery of the structure of DNA in 1953 to the development of DNA sequencing in 1975, and as principal partners in completing the human genome sequence in 2000—hailed by President Bill Clinton and Prime Minister Tony Blair as "the most wondrous map ever produced by humankind".

1.2.  Until recently, geneticists have focused on identifying the genes that underlie "single-gene disorders"—rare diseases, caused by defects in single genes, such as Huntington's disease, cystic fibrosis and sickle cell anaemia. This work has provided important benefits. It has enabled the accurate diagnosis of single-gene disorders and led, for example, to the development of screening programmes for cystic fibrosis and sickle cell anaemia in newborns.

1.3.  But single-gene disorders account for a small proportion of the national burden of disease. Commoner diseases, which have a far more significant impact on public health, frequently have a complex genetic basis. As a result, these "genetically complex diseases" have not been susceptible to traditional genetic techniques. The completion of the human genome sequence, however, has opened up a new era in genetic investigation, and technological advances, such as a 1,000-fold increase in capacity to read a DNA sequence and a 10,000-fold reduction in the cost of DNA sequencing, have enabled geneticists to begin to chart the genetic basis of a wide range of common diseases.

1.4.  These recent advances have led to identification of susceptibility genes for genetically complex diseases such as diabetes, coronary heart disease and several types of cancer, leading to the possibility of early prediction and possible prevention in some cases. Other advances have already entered clinical practice and include more precise, molecular diagnosis of established disease, for example in breast cancer and chronic myeloid leukaemia, allowing more targeted, personalised treatments to be prescribed. Other gene discoveries enable drug sensitivity and side effects to be predicted, for example in the use of warfarin and anti-HIV therapies.

The inquiry

1.5.  Whilst acknowledging the benefits to individuals of these new discoveries, we need to ask how, in the context of competing priorities within the healthcare services, they might contribute most effectively to improvements in our public health and quality of life. In considering this question, other questions arise: are our health services in a position to take advantage of these new scientific advances? Can—indeed should—their translation into clinical practice be afforded? Does the appropriate ethical and regulatory framework exist so as both to protect the interests of individuals and also to encourage further advances? Will such advances bring with them new economic opportunities and, if so, is the Government doing enough to ensure that those opportunities are exploited? The purpose of our inquiry was to investigate these issues.

Structure of the Report

1.6.  Genomic medicine is a highly technical subject. In Chapter 2, therefore, we begin by describing the concepts used in genomic science and genomic medicine; we set out recent developments in the field and consider developments which are likely to occur in the future. In Chapter 3 we analyse how developments, such as genomic tests and targeted medicines, are being translated into clinical practice; we also consider the current barriers to further translation, how they can be overcome and how to encourage innovation.

1.7.  In Chapter 4 we consider how advances in genomic medicine might impact on healthcare services and whether the National Health Service is in a position to meet the challenges they present. In Chapter 5 we examine aspects of the information technology that will be required for the development of genomic medicine and, in particular, the gap that exists between use of genomic datasets in a scientific context and the availability of similar datasets for delivering healthcare.

1.8.  Chapter 6 explores some of the ethical, social and legal issues arising from the development of genomic medicine, such as data security, confidentiality and consent, the use of genetic information for research purposes, the provision of genetic test results direct to the consumer and the potential use of genomic information by the insurance industry and employers. Finally, Chapter 7 addresses issues relating to the provision of training and education and the need for workforce planning to meet the needs of genomic medicine.


1.9.  The membership and interests of the sub-committee are set out in Appendix 1 and those who submitted written and oral evidence are listed in Appendix 2. The call for evidence with which we launched our inquiry is reprinted in Appendix 3. On 19 March 2008 we held a seminar to which academics, representatives from Government departments and a variety of other organisations contributed. A note of the seminar is set out in Appendix 4. In June 2008 we visited the National Human Genome Research Institute in Washington DC in the United States and talked to a wide range of experts who were able to inform us about many aspects of genomic medicine. A note of the visit is set out in Appendix 5. We would like to thank all those who assisted us in our work.

1.10.  Finally, we are very grateful to our Specialist Adviser, Professor Tim Aitman, Professor of Clinical and Molecular Genetics, MRC Clinical Sciences Centre and Imperial College London, for his expertise and guidance throughout our inquiry. We stress, however, that the conclusions we draw and the recommendations we make are ours alone.

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