Academy of Medical Science Review of research regulation and governance: GeneWatch UK response

September 2010

GeneWatch UK is a not-for-profit organisation which aims to ensure that genetics is used in the public interest.

We note that the Academy’s review will concentrate on research involving human participants, their tissues or data, and include experimental medicine, all stages of clinical trials and epidemiological studies. Our submission relates to the use of DNA samples and genetic data, including ‘secondary uses’ of such data and genetic epidemiology.

GeneWatch UK has no specific views on how research oversight should be organised and is not opposed to simplifying bureaucracy. However, any changes to the research regulation and governance system should ensure that ethical standards are maintained, including standards for seeking and obtaining informed consent and for protecting privacy.

GeneWatch UK supports efforts to engage patients and members of the public in research on a voluntary basis: however such research must not be driven by misguided priorities or compromise ethical principles. We are concerned about a number of statements made by the AMS in its 2010 report ‘Reaping the rewards: a vision for UK medical science’. In particular, we disagree with the statement that “Current application of data protection regulation in particular represents a serious impediment to medical research without apparently providing significant benefit to patients” (page 6). Claims that data-mining electronic medical records will allow researchers to better understand the causes of disease and improve public health are also misplaced, since many causal factors (social, environmental, economic) are not contained in medical records. An overemphasis on biological risk factors has in fact tended to undermine public health approaches (which is not surprising since the idea of screening for supposed genetic susceptibility to lung cancer was originally funded and promoted by the tobacco industry).[1]

There are particular concerns regarding the use of DNA samples and genetic data for research without consent or adequate privacy protection because:

  1. DNA sequencing is a dual-use technology which can also be used to track individuals and their relatives: widespread inclusion of sequencing data in electronic medical records would create a DNA database by stealth. Such a databasewould be accessible to the police or security services, raising significant human rights concerns.[2]
  2. Attempts to ‘pseudo-anonymise’ such data are unlikely to protect privacy because the potential to re-identify individuals via ‘deductive identification’ is high (even in the absence of links with other data[3]).
  3. There is considerable commercial interest in gaining access to electronic medical records, biological samples and/or genetic data to allow ‘personalised marketing’ of health-related products, with potentially harmful consequences for public health.

GeneWatch UK is concerned that there have been a series of proposals made over the years which seek to gain access to DNA samples stored in the NHS without the fully informed consent of the people involved. These attempts appear to have been driven by a misplaced view that sequencing the genome of every baby and/or adult would deliver major benefits to health.These initiatives have included:

  • The proposal by the previous government in its 2003 White Paper on genetics in the NHS that the whole genome or selected genetic markers of all newborn babies should be sequenced, using the blood spots stored in the NHS. Whilst there may be rare circumstances where sequencing a baby’s genome may become useful and necessary for clinical care, a blanket approach to sequencing children and young people under the age of 18 in the absence of any clinical justification undermines the principle of informed consent and is more likely to harm than benefit health.[4],[5],[6]
  • The (abortive) attempt by the previous government, in clause 152 of the Coroners and Justice Bill, to introduce provisions which would allow ministers to approve widespread data-sharing of medical and genetic data without consent.[7]
  • The continued retention of large numbers of babies’ blood spots without the knowledge of their parents and the potential for these to be used for genetic research without consent.[8]
  • Reported discussions with commercial companies about the potential for them to undertake such sequencing in the NHS.[9],[10]
  • The creation of the Secondary Uses Service (SUS) and the GP Extraction Service (GPES) for electronic medical records without proper consideration of the need for informed consent.[11]
  • The failure of the 2009 Connecting for Health consultation on research uses of electronic medical records to make explicit the implications for the potential use of biological samples and genetic data without consent (noting, in particular, that in its response the Sanger Centre advocated access to information in ‘sealed envelopes’ without consent and “encouraged the Care Records Service to prepare for the integration of significant amounts of genetic and genomic information into patient records”).[12],[13],[14]

It is now widely recognised that claims that genetic research would lead to the ‘prediction and prevention’ of common, complex diseases in the general population are misleading.[15],[16] No existing tests of common genetic variants meet medical screening criteria for the general population and none are likely to do so in the future. Pharmacogenetic tests (genetic tests associated with drug response) show some promise but many have demonstrated insufficient predictive value to be useful in clinical practice. Where a pharmacogenetic test appears likely to be of patient benefit it is clearly important to be able to collect genetic information in the course of clinical trials: however, this can be done with informed consent in the context of a specific trial, rather than on a blanket population-wide basis. Thus, claimsmade by enthusiasts that the normal ethical protections need to be over-ridden in order to win a race to commercialise the human genome are unfounded.

Sequencing an individual’s DNA without their consent is likely to be publicly unacceptable and open to legal challenge.

Considerable evidence exists that members of the public, whilst supportive of medical research, wish to be asked for their consent[17],[18] and have major concerns about increased surveillance (including medical surveillance) and the role of vested interests, including commercial interests, in medical research.[19],[20]

Further, data-sharing between the NHS and the private sector (including health, biotech and pharmaceutical companies) raises critical and contentious issues, such as the payment of licensing fees and the ownership of intellectual property (including gene patents). It is vital that any system for data-sharing retains public support: informed consent, privacy protection and transparency about the uses of data are vital to maintain this.

Key points for the review to consider are:

  1. The December 2008 judgment of the European Court of Human Rights that the retention of biological samples and genetic data without consent breaches Article 8 of the European Convention on Human Rights.
  2. The fact that the provisions of the Declaration of Helsinki do not limit the information required to be provided to research participants purely to privacy and data protection issues, but include the need to provide information about who is undertaking the research and why, and to declare any conflicts-of-interest.
  3. That personal information includes any combination of information from which an individual’s identity may be deduced, and that the issue of deductive identification will limit the potential of any system of ‘pseudo-anonymisation’ to protect privacy.

Rather than undermine privacy protection and ethical standards, GeneWatch UK recommends that the Government signs and ratifies the Council of Europe’s 2001 Convention on Human Rights and Biomedicine, and ensures that the protections of the Convention are fully implemented in UK law. It is vital to maintain public trust in medical research if future benefits are to be delivered.

For further information contact:

Dr Helen Wallace

Director

GeneWatch UK

Email:

References

1

[1]Wallace HM (2009) Big Tobacco and the human genome: driving the scientific bandwagon? Genomics, Society and Policy, 5(1), 80-133.

[2] Kaye J (2006) Police collection and access to DNA samples. Genomics, Society and policy, 2(1), 16-27.

[3] Homer N, Szelinger S, Redman M, Duggan D, Tembe W, Muehling J, Pearson JV, Stephan DA, Nelson SF, Craig DW (2008) Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays. PloS Genetics, 4(8): e1000167. doi:10.1371/journal.pgen.1000167.

[4] Department of Health (2003) Our inheritance, our future: realising the potential of genetics in the NHS, June 2003, Cm 5791-II (London, The Stationary Office).

[5] GeneWatch UK (2004) Bar-coding babies: good for health? Briefing Number 27. .

[6] Human Genetics Commission (2005) Profiling the newborn: a prospective gene technology? March 2005. .

[7] Russell, B (2009) Data bill ‘will wipe out privacy at a stroke’. The Independent, 27th January 2009.

[8] Woolf, M. (2010) NHS uses babies’ blood for secret database. The Sunday Times. 23rd May 2010.

[9]House of Lords Science and Technology Committee (2008) Memorandum submitted by Academy of Medical Sciences. Examination of Witnesses. 16th July 2008.

[10] Nelson F (2009) They wish we all could be Californian: the new Tory plan. The Spectator, 25th February 2009.

[11] Smith, R. (2010) Millions have online medical records ‘without knowing it’. The Telegraph. 17th June 2010.

[12] CfH (2008) Consultation on the wider use of patient information.

[13] HGC (2008) NHS Connecting for Health – Consultation on Public, Patients, and other interested parties views on Additional Uses of Patient Data: Response by the Human Genetics Commission. 15 December 2008.

[14] Summary of responses to the consultation on additional uses of patient information.

[15]Wallace HM (2009) Genetic screening for susceptibility to disease. In: Encyclopedia of Life Sciences. John Wiley & Sons Ltd., Chichester. 10.1002/9780470015902.a0021790] September 2009.

[16] PHG Foundation (2010) Experts call for UK Government to prioritise immediate benefits of genomic medicine over more remote possibilities. Press Release. 18th May 2010.

[17] MRC(2007) The use of personal health information in medical research. MRC/Ipsos MORI. 26 June 2007.

[18] Armstrong V, Barnett J, Cooper H, Monkman M, Moran-Ellis J, Shepherd R (2007) Public attitudes to research governance: A qualitative study in a deliberative context. Wellcome Trust.

[19] Dialogue by Design (2007) Science Horizons: Deliberative Panel Report. September 2007.

[20] Levitt M, Weldon S (2005) Public perceptions of the governance of DNA databases. Critical Public Health, 15(4), 311-321.