Select Committee on Science and Technology Fourth Report

CHAPTER 2: BACKGROUND TO THE INQUIRY

THE IMPORTANCE OF HUMAN GENETIC DATABASES

2.1 History will recognise the mapping of the human genome as one of the key scientific achievements of the turn of the Millennium. However, this step change in knowledge is of no practical use in isolation. Very substantial benefits will flow only as we move from simply describing our genetic material to understanding how it acts. The prospect on offer represents, without exaggeration, a revolution in understanding human biology. Some of the benefits arising from these advances are discussed in Chapter 4.

2.2 There are two aspects to the further work needed to capitalise on the new data. The first involves understanding how genetic material influences the workings of the body at a molecular level. Much scientific endeavour is devoted to this, and significant advances are being made which are already having an impact on medical practice. But individuals are not just products of their genes. For example, although we already know that some genetic variations pre-dispose to certain illnesses, we do not yet know enough about why some individuals with those genes succumb to the illness while others do not.

2.3 The second aspect of the necessary work is therefore to understand the way that individuals are affected by the interaction between their genetic make-up and their environment or life circumstances. This requires tracking large numbers of individuals over long periods of time, and noting disease and other outcomes (or the lack of them), having regard to those individuals' genetic make-up and how and where they live.

2.4 Such projects will necessarily involve assembling large collections of genetic data (including tissue and biological samples from which genetic data can be derived) and other information - the human genetic databases that are the subject of this Report. The Committee has, for some time, been aware of the revolutionary potential of advances in genetics, not least from the wide-ranging 1995 Report by our colleagues in the House of Commons Select Committee on Science and Technology[5]. But the key role of human genetic databases was first drawn to our attention during a visit to the laboratories of SmithKline Beecham in mid 1999.

2.5 Dr George Poste, then Chief Science and Technology Officer of the company, provided us with an enthusiastic vision of the scientific and medical advances possible from a systematic use of the wealth of patient information in the NHS coupled with data on genetic factors[6]. With the help of memoranda from him and from the Department of Health, the matter was one of the topics we discussed with Ministers in December 1999[7].

2.6 Following these meetings, we were clear that both the opportunities and challenges in developing and using human genetic databases needed further study. That perception was given further impetus by the emerging plans of the MRC and The Wellcome Trust, with active support from the Department of Health, to establish a substantial human genetic database - the UK Population Biomedical Collection - as discussed further in paragraph 4.16 ff and elsewhere in this Report.

RELATIONS WITH THE HUMAN GENETICS COMMISSION

2.7 We were working on plans to undertake an Inquiry when, with Ministers' agreement, the newly formed HGC announced that its first priority would be to advise the Government on a framework for the future regulation of personal genetic information. In close consultation with the Commission, we decided to undertake a short Inquiry into existing and planned genetic databases. The aim was not only to provide a solid basis for discussion by the HGC, Government and others about the future arrangements in this complicated area but also to examine some of the broader implications of developing human genetic databases.

SUB-COMMITTEE MEMBERSHIP

2.8 The Inquiry was conducted by Sub-Committee II, which also prepared this Report. The Sub-Committee membership and declarations of interests are set out in Appendix 1.

2.9 We appointed as our Specialist Adviser Professor Paul Elliott of Imperial College, London[8]. We are grateful for his assistance in steering us through the complicated (and, in many cases, cutting-edge) matters that arose during the Inquiry.

CALL FOR EVIDENCE

2.10 Against the background of medical and biological advances set out above, the general objectives for the Inquiry were:

(a)  to investigate how issues of privacy, ownership, distribution and anonymisation of individuals' genetic and related health information were dealt with in relation to currently available and planned use of human genetic databases;

(b)  to take stock of developments which might be expected not only in genetic and database technologies but also in knowledge about genetics and gene function - together with their consequences for medical practice; and

(c)  to report, drawing attention to the areas where current practice and regulation seemed likely to need development, taking into account the opportunities and the challenges of changing technology and knowledge.

2.11 In July 2000, we issued the call for evidence reproduced in Appendix 2. With a view to establishing what was being done - and what could be done in the future - this was addressed principally to the bodies which were involved in maintaining, developing or using human genetic databases or which were actively planning to do so.

EXCLUSIONS

2.12 In view of the HGC's specific remit and the general requirement for it to consult widely in developing its advice, we did not call for evidence on either the regulatory framework for human genetic databases or public attitudes towards such databases. The call for evidence also noted that the generalised data flowing from the Human Genome Project fell outside the scope of the Inquiry.

2.13 Furthermore, our Inquiry has not covered the many ways in which the use of personal genetic data might be allowed or constrained other than in large-scale research and reference databases - for example, in employment or insurance. We were, however, interested to note that insurance matters were the subject of a contemporaneous short Inquiry by the House of Commons Select Committee on Science and Technology[9], as a follow-up to the 1995 Report noted in paragraph 2.4.

EVIDENCE RECEIVED

2.14 We received a substantial volume of written evidence. For the first time, this provided a description of the developments across the field, mainly in the words of the practitioners themselves. This evidence was published on 8 November[10], in time to provide a sound factual base for the HGC's public consultation on the regulatory issues, launched with its publication of Whose hands on your genes? on 27 November 2000.

2.15 The written evidence was supplemented by oral evidence received at a series of sittings held in public between December 2000 and February 2001. That oral evidence and some further written evidence is published in the second part of this volume. All witnesses are listed in Appendix 3.

2.16 To help us get to grips with the disease outcome and data-handling aspects of human genetic databases, we commissioned a seminar with appropriate experts at Imperial College, London on 24 January 2001. A record of this event is in Appendix 4.

2.17 On 31 January 2001, we visited the Sanger Centre and the European Bioinformatics Institute - both internationally prominent in developing the understanding of human genetics[11] - at The Wellcome Trust's Human Genome Campus at Hinxton, Cambridge. This enabled us to see at first hand the latest techniques of genetic sequencing and to discuss present and projected developments (in both the technology and the science) with key personnel. A note of this visit is in Appendix 5.

2.18 We are grateful to all our witnesses and those involved in the January 2001 seminar and visit for their thoughtful contributions to our deliberations.

ABBREVIATIONS AND GLOSSARY

2.19 The abbreviations used in this Report are generally explained only the first time they are used. For convenience, they are listed in Appendix 6.

2.20 Appendix 7 concludes with a glossary of technical terms in genetics.

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5   Human Genetics: the science and its consequences, 3rd report Session 1994-95, HC Paper 41-I. Back

6   See paragraph 6.3. Back

7   Meeting with Health and Science Ministers, 2nd Report Session 1999-2000, HL Paper 11.  Back

8   Fuller details are in Appendix 1. Back

9   At the time of going to press, expected to be Genetics and Insurance, 5th Report Session 2000-2001, HC Paper 174. Back

10   Human Genetic Databases: written evidence received up to 31 October 2000, Session 1999-2000, HL Paper 115. Back

11   Indeed, the Sanger Centre was the single largest public sector contributor to the Human Genome Project. Back