Guthrie Cards in Scotland: Ethical, Legal and Social Issues

EXECUTIVE SUMMARY

This report considers the ethical, legal and social issues surrounding the existence, continued storage and future uses of the newborn screening collection held in Scotland (also known as the Guthrie card collection). The report was written over a four year period, 2009-2013, during which time earlier drafts of the report ensured that Guthrie Cards were included in the developing governance regime for biomedical collections within Scotland. This final version is an account of developments as of April 2013 and involves an evaluation of the current arrangements as far as this is possible in a fast-moving field. The report also serves as a platform for future dialogue and development in light of wider social and international changes that are occurring, most notably in terms of the growing role for empowered citizens to contribute to, and benefit from, the future direction of health-related research.

The Scottish Guthrie card collection began in 1965 and now contains more than 2.5 million cards which include blood/DNA samples and personal information relating to children born in Scotland since the inception of the collection until the present day. Numerous purposes are possible with respect to this collection but there is no dedicated legal framework that applies to it. Accordingly, this report approaches the resolution of the ethical and social issues from first principles, acknowledging the potential value of the resource while considering areas of law that might apply to it. Matters are complicated by the long-term nature of the collection - historically and into the future - whereby social attitudes and governance frameworks have changed over time and might change again in years to come. The prospect of the Guthrie collection being seen as a "de facto DNA database" means that these issues require on-going attention. Challenges in other countries such as Australia, Ireland, New Zealand and the United States with respect to similar newborn screening collections have demonstrated that a failure to address the issues appropriately and in a timely fashion can have very serious consequences, including destruction of whole collections in some cases. Such an outcome is not, however, inevitable. Scotland can learn much from the experience in other countries and this report highlights some of the pertinent lessons.

The report argues that a robust, flexible and adaptive system is required to govern the Scottish Guthrie card collection. This must remain fit-for-purpose over time and must strike a delicate balance between maximising the value of the collection as a public resource to be managed for the public good while minimising the risks to individuals whose samples and data are held as part of the collection. While much attention has been paid to governance arrangements in the last four years, current practices could be improved further towards an optimal governance system for the collection and which would strike the appropriate balance of interests.

The report details options for consideration as to how practices could be improved. In some cases it makes specific recommendations for action; in others, it identifies opportunities for future dialogue about this and other biomedical collections. It is argued that public engagement should be undertaken in the development, implementation and on-going operation of policies with respect to the collection and potential and future uses.

The report covers the following areas:

Legal basis: The legal basis for the collection in Scotland is not captured in any single piece of legislation governing its existence. The position is complicated by the fact that the collection contains both personal information and DNA samples - the complicating factor is that separate legal regimes apply to data and tissue. While in England the equivalent collection appears to be treated as 'tissue', and is therefore regulated under the Human Tissue Act 2004 (HTA 2004), this Act does not, in the main, apply in Scotland and there is no equivalent legal regime. The one notable area of overlap between the two countries is, however, section 45 of the HTA 2004 which does apply in Scotland. This section creates a criminal offence for non-consensual DNA analysis. Unlike England, evidence in Scotland suggests that the entire collection is treated as part of the medical record and therefore is 'data' and subject to the provisions of the Data Protection Act 1998. It is recommended that for the avoidance of doubt and to ensure effective and robust protection of individual interests, the Guthrie collection in Scotland should be treated as both information and tissue for the purposes of legal governance. In addition, all practices with respect to the collection must be tested for human rights compliance. Any governance regime should reflect examples of 'best practice' from data and tissue regulation regimes while at the same time adopting a mechanism of proportionate governance, that is - a system of oversight and control that is proportionate to the risks involved and the benefits that can be achieved and which does not create undue regulatory burden on legitimate uses of the collection.

Consent and anonymisation: Both consent and anonymisation are legal and ethical mechanisms used to protect and respect individuals and are accordingly of considerable importance. However, neither approach is a complete solution to challenges faced by large-scale, long-term biomedical collections. Each measure has limitations when considering how to strike the balance between individual rights and the pursuit of the public good. Close scrutiny is required of procedures both as to recruitment and withdrawal from the collection as well as to the role of anonymisation in legitimating research use. Although the law does not require it, consideration should be given to whether explicit consent should be obtained from people whose information and samples are held in the collection. Consideration should also be given to the details of an effective opt-out system, and whether mature minors should be allowed to opt-out. Other issues that requires attention are whether 'consent for consent' should be sought to facilitate research access, and whether consent should be sought from individuals if access is contemplated for non-healthcare purposes. As a minimum, there should be clear, transparent and accessible information about the collection, its uses and operation arrangements and mechanisms for citizens to enquire about its operation. It is important that a regular Privacy Impact Assessment be carried out on the operation and use of the resource.

Access and storage: The growing awareness of the value of the Guthrie collection as an important potential resource for genetic and other forms of health-related research means that access policies and procedures require priority and on-going attention. Moreover, the prospect of non-health related access, such as by the police, necessitates robust measures to protect individual interests. In light of the provisions of the Data Protection Act and human rights considerations, those responsible for the collection must also clearly define the purposes of the collection and link these to justifiable periods of retention. The appropriateness of the physical environment in which the collection is held and the way in which it is archived must be kept under regular review. It is recommended that a clear, robust and transparent and publicly available access policy should be operated; this should include guidance for decision makers on relevant factors to be taken into account when contemplating access/research requests. A written protocol for the release of samples and information to the police should be developed and should be publicly available. Personnel within the NHS should act as gatekeepers with respect to access requests and most notably and ideally Caldicott Guardians - as those persons responsible for patient confidentiality within the NHS - should be involved in the decision-making processes. Access policies must not only be transparent and easily intelligible, but these must also be kept under regular review and augmented with periodic updates on the kinds of uses of the collection that have been granted. Policies and procedures regarding feedback of information to individual citizens should be developed.

Governance: Good governance of biomedical collections is essential and procedures must apply to all aspects of the resource from initial taking of consent and samples, to storage, quality assurance, access, networking, feedback and contingency planning. The relationship between:

• The Southern General Hospital (SGH) in Glasgow (as custodian of the national resource for the first two years; archival storage thereafter)
• NHS Greater Glasgow and Clyde Health Board (as responsible authority for SGH and the historic collection),
• Healthcare Improvement Scotland (as the national inspectorate body for quality care and services), and
• NHS Research Scotland (as the national strategic organisation), needs to be clarified, especially with respect to lines of accountability. The role of advisory and monitoring bodies also requires exploration, as does the input of the Caldicott Guardians. Reflecting the recommendations in the previous section, robust and transparent policies and governance mechanisms should be maintained and regularly reviewed. Relevant governance bodies should deploy reflexive governance whereby they engage in mutual learning about developments involving the resource and remain responsive to future challenges.

Public attitudes and engagement: There is a lack of research in the UK generally and Scotland in particular on public and professional attitudes to the storage and further use of newborn blood collections. Research conducted elsewhere suggests that although there is majority support for storage and appropriate, well-governed use, there are concerns about access, consent and the provision of information. Effective governance should be based on a sound empirical knowledge of public views and a programme of public engagement to ensure that governance arrangements are socially acceptable and ethically robust now and into the future.

Future Considerations: The transformative potential of biomedical collections for individual, local and global health is exponential. Scientific and technological advances mean that the possible future uses of the Guthrie collection are constantly changing and these no longer depend only on developments in the health sector - cloud computing and mobile applications mean that these valuable resources can be enriched and shared in ways never before contemplated. This also raises the possibility of a far more engaged role for the citizen interested in contributing to and influencing the future direction of research. While some of the more speculative possibilities are beyond the scope of this report, the fact that these can be foreseen makes it all the more important that Scotland develop a long-term, robust, responsive and imaginative approach to the management of its biomedical collections.