GENOMIC MEDICINE
CHAPTER 1: INTRODUCTION
Background
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.
Acknowledgements
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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