Guthrie Cards in Scotland: Ethical, Legal and Social Issues

CHAPTER 2 - CURRENT PRACTICE & CURRENT ISSUES

2.1 This chapter outlines current practice with respect to the Guthrie collection and asks key questions about the legal, ethical and social issues arising from that practice. Subsequent chapters will address each of these questions in turn. The discussion is set against the international scene from which Scotland has much to learn.

Key questions are:

• Is it lawful to continue to hold the collection when consent has not been obtained from the majority of people whose cards are kept? Which laws apply to the collection, who is responsible, and what are their obligations?
• Should specific consent be sought from all persons whose blood spots and data are held as part of the collection? What are the arguments for and against this approach? What does the law and good practice require? What are the alternatives?
• Can the collection be kept and used if the cards are anonymised? Is it possible or practical to do so? What are the pros and cons of anonymisation?
• What kinds of uses should the collection be put to and which are lawful? Should access be allowed for health research? What about non-health research? What is the position about future requests about police access and access by commercial companies?
• Who is legally liable if things go wrong? Can existing oversight bodies in Scotland assist with the governance challenges of the Guthrie collection?
• What do the public think about the Guthrie collection? How far, and how, should public opinion shape the use of the collection over time? Is a public education campaign needed? How could this be achieved?
• Can lessons be learned from other countries or other biomedical collections?

Current practice

2.2 The Scottish collection of Guthrie Cards was started in 1965. Between 1965 and 2005 (when the current computerised database was introduced) 2.5 million cards were collected. New cards are initially stored in chronological order at the Southern General Hospital (SGH), Glasgow. Cards over two years old are then kept in secured document storage at optimum temperature and humidity. All of this is done under the auspices of Greater Glasgow and Clyde Health Board. Thus, unlike the position in the rest of the United Kingdom, one entity is primarily responsible for the management and governance of the collection. This brings considerable advantages in terms of consistency of policies and streamlining of procedures as well as clear lines of legal responsibility. However, this custodian of the collection must interact with a number of other local and national bodies in ways that can leave lines of accountability unclear. For example, SGH operates within NHS Greater Glasgow and Clyde Health Board, and both in turn are subject to oversight by Healthcare Improvement Scotland (HIS) as the national inspectorate body for quality care and services.⁶ Furthermore, NHS Research Scotland was established in 2009 in order to ensure that NHS Scotland provides the best possible environment to support health research.⁷ NHS Research Scotland has issued National Guiding Principles for Governance of NHSScotland Tissue for Research and these principles are monitored by the Accreditation Scheme for the Collection and Storage of NHS Tissue in Scotland, operated by Healthcare Improvement Scotland.⁸ All Scottish biomedical collections - known as biorepositories - must adhere to these Principles. More details are required, however, on what happens if something goes wrong. Boards are accredited by Healthcare Improvement Scotland and therefore accountable for their practices, but the position on sanctions could be more transparent. Similarly, the possible sanction that a Board might impose on a biorepository operating under its auspices is also unclear.

2.3 As stated, for the first two years the Guthrie collection is held and maintained by the Scottish Newborn Screening Laboratory within SGH. This is a National Specialist Service commissioned and funded by the National Services Division (NSD) and in turn this is a division of NHS National Services Scotland (NSS).⁹ Additionally, the collection is subject to guidelines and policies issued by both the UK National Screening Committee¹⁰ and the UK National Screening Programme Centre,¹¹ albeit that each part of the UK determines when, and how, to put the policies into practice.¹² This further complicates the chains of accountability.

2.4 Since 2005, when a new card was introduced in Scotland, the blood spots and the personal information have been separated as soon as they reach the Glasgow laboratory, and the personal information has been entered in a database. Both parts of the card (bloodspot and personal information) are bar coded, which means that the cards are not irreversibly anonymised. This has implications for personal privacy.

2.5 With the exception of cards from 2000-2005, cards already stored have not been catalogued. As the old cards did not permit separation of the blood spots from the data, personal information and the blood samples are kept together. In 2007, the laboratory introduced a policy whereby new cards are kept at -20C degrees for two years and then moved and stored in a temperature controlled environment thereafter. These observations have implications for security, quality assurance procedures, data management procedures and, ultimately, effective and protective use of the resource.

2.6 From 1965 to 2003, consent to inclusion in the Guthrie collection was 'presumed', and parents were not told that the cards were to be kept. Since 2003, however, written consent has been sought from parents.¹³ Currently, parents of newborn babies in Scotland are offered the opportunity to have their baby screened for five conditions: Phenylketonuria (PKU), Congenital Hypothyroidism, Cystic Fibrosis, Medium Chain Acyl - CoA Dehydrogenase Deficiency (MCADD) and Sickle Cell Disorders (SCD). The consent form in Scotland allows parents to choose to have their babies screened for individual tests, all tests, or none of the tests. Thus, while current practice is based on a model that aspires to "informed consent", the majority of the collection is held without any such consent.

2.7 If parents choose to have their baby screened for one or more of the tests, the newborn blood spot card is retained, in the first instance, for a 12-month testing period, so that tests may be repeated if necessary.¹⁴ Scottish practice on initial retention is different from the practice in England where newborn blood spot cards are retained for a minimum of 5 years, in keeping with the UK Newborn Screening Programme Centre's Code of Practice for the Retention and Use of Residual Blood Spots.¹⁵

2.8 In Scotland, at the time initial consent for the tests is requested (5-7 days after birth), parents are also asked to provide permission to allow the blood spot card to be stored beyond the 12-month testing period and the information leaflet states: "Left over blood spots can also be used anonymously for other monitoring and laboratory purposes such as comparing different screening methods and developing new tests. Occasionally it is necessary to use identifiable specimens, in which case the parents' permission would always be sought. If you do not want the stored blood spot card to be used for research, please ask the midwife to write 'no research' in the comments box on the blood spot card."¹⁶ It is confirmed that parents are not asked when research is done anonymously, but will be approached if they or their baby can be identified. The wording of the leaflet raises two important issues: (1) are parents being invited actively to consent to retention or to opt-out of retention? This is important for parental expectations and also practically in terms of what will be done in the event that the comments box is left blank. Moreover, does a non-response indicate meaningful consent or is it mere silence? (2) The informed nature of any apparent assent is very limited. The expression "[m]onitoring and laboratory purposes" suggests a narrow range of use and yet the potential research uses of biomedical collections such of these is extensive. This raises issues for consent and governance and we explore these later in the respective chapters.

2.9 If parents do not agree to allow the retention of the blood spot card beyond the 12-month testing period, the card is destroyed;¹⁷ otherwise, parents can agree to continued retention of their child's card either in the health interests of the child only, or for research purposes. Retention after the initial 12-month period becomes de facto indefinite retention, although operational practice is to respect subsequent wishes for destruction.¹⁸ The NHS Research Scotland Guiding Principles make it clear that any biorepository that receives a written request for destruction of samples and data must comply so far as this is practicably, i.e. - sometime data might no longer be within the control of the biorepository managers.¹⁹

2.10 In governance terms, the Scottish collection is subject to the guidance of the UK Newborn Screening Programme Centre on issues such as quality assurance and performance management and the UK National Screening Committee which advises on screening policy. The Greater Glasgow & Clyde Health Board has an independent Biorepository Governance Board that considers operational matters for the Guthrie card collection and this includes requests for access. Primary responsibility for receiving recommendations in this report must, accordingly, rest there. As a first step, however, the Board must address issues of transparency.²⁰ This must be an immediate priority given the extensive issues to be addressed - and lessons from other countries which have arisen in large part because of lack of transparency (see further below).

Current issues

Is the collection lawful?

2.11 The legal status of the Guthrie card collection in Scotland has never been tested in court nor addressed directly by Parliament. Current arrangements operate on a complex 'soft law' hybrid approach whereby the UK Newborn Screening Programme Centre has issued a Code of Practice (2005) and Standards Guidelines (2008;²¹ 2013 Consultation report²² ) but leaves regions to decide on best practice independently. This has given rise to disparate approaches to the Guthrie collections around the UK. For example, information leaflets to parents are not standardised and the range of parental options differ between the countries (i.e. Scotland gives a one-year retention option while this is not available in England). Furthermore, while England has carried out a public consultation,²³ no specific public engagement has thus far taken place in Scotland.

2.12 Furthermore, the legal landscape in Scotland can at times differ from the rest of the United Kingdom. This is particularly true with respect to human tissues because the Human Tissue Act 2004 does not, with a notable exception, extend to Scotland. Similarly, freedom of information requests are dealt with under specific Scottish legislation.²⁴ In contrast, the Data Protection Act 1998 is a UK-wide statute with no Scottish variations. Thus, to the extent that the Scottish collection involves both human samples and personal data the legal framework is a complicated network of domestic and UK-wide provisions. From a policy and procedural perspective, however, Scotland has a wide degree of autonomy and discretion in its approach to storage and use of the collection. We discuss the legal status of the collection in Chapter 4.

Is informed consent to the collection required?

2.13 The Scottish collection began at a time when medical matters were subject to a lot less oversight than happens today. In particular, consent from patients or relatives was not the norm, as it has since become. Consent to Guthrie card collection, storage and use became the norm in Scotland in 2003 for all newborns and is now routine; this nonetheless means that the majority of the existing collection is held without explicit consent from the persons to whom it relates or from their parents if they are still children. If the continued holding of the collection were to be contingent on explicit consent this would raise a plethora of ethical, practical and economic problems. But is this what the law or good practice requires? Would it be practical or desirable? We discuss the role of consent in Chapter 5.

What can the collection be used for?

2.14 This report comes at a time when there is both increased interest in the value of public collections such as Guthrie cards and well as increased scrutiny of their very existence, let alone their continued storage and use. As interest in use grows, so too does the number of associated ethical, legal and social issues and potential challenges. Whereas the original purposes for the taking of samples is, and always has been, determinedly the health interests of the child, Guthrie collections around the world can and are put to an increasingly wider range of purposes and uses going beyond individual health interests; among others, these extend to societal health interests and other so-called public interests such as (health) research more generally, and the detection and prosecution of crime. Police access has been granted in the past, for example, for identification of deceased persons (see Chapter 6 below). Recently, there has been an increase in requests from research groups interested in gaining access to cards in the Scottish collection. The legitimacy and lawfulness of granting access for a wide range of purposes or uses is discussed in Chapter 6 below.

Who is responsible for the collection and what does this mean?

2.15 Scotland has a robust mechanism of research governance and ethical approval but the governance framework for the collection is complex and multi-levelled. We have seen above the arrangements for custodianship of the Guthrie card resource and how this implicates local, regional and national bodies. Matters are complicated further as the transformative potential of such a biomedical collection becomes stronger. For example, it is well-recognised that the full promise of these resources will only be realised through national and international networks of data and sample sharing.²⁵ In governance terms, this means that no collection stands alone and those seeking access must engagement with a range of mechanisms. For example, as well as a sophisticated system of local and multi-centre research ethics committees, the Privacy Advisory Committee (PAC) operates in Scotland under the auspices of NHS National Services Scotland (NSS) to advise the Information Services Division of NHS Scotland (ISD) and National Records of Scotland (NRS) on requests for research access to data in the Scottish Medical Record without explicit consent and/or if linkage of data which might pose an increased risk to patient privacy. As a body operating under NSS (in the same way as the National Screening Laboratory) there may be a role for PAC in delivering good governance for the Guthrie Card collection. That said, the remit of PAC does not extend to access to samples (as opposed to patient data) nor does it cover resources held exclusively within health boards. It would only be in circumstances where there was a proposal to link Guthrie data with ISD or NRS data that PAC would have a say. This suggests a fragmented regulatory landscape. At the international level, questions arise about whether data and samples can or should be sent abroad, under what conditions, and with which responsibilities. We discuss possible governance mechanisms in Chapter 7 below.

What does the public think? Should the public be involved more?

2.16 Public perceptions and attitudes have an important and growing role to play in the development of robust and acceptable policies within the healthcare setting. Whereas once consent was the exception rather than the rule, today the converse is true. Moreover, law and public perception do not necessarily coincide so that what is lawful might nonetheless be unacceptable to a majority or vocal minority of the Scottish public. There is no need to rehearse the sensitivities that surround the (mis)handling of patient information or samples, but equally it is essential to consider whether and how public opinions can inform health policies and the operation of biomedical resources now and in the future. We discuss public attitudes in Chapter 8 below.

What lessons can we learn from other countries?

2.17 The practice of retention of newborn screening cards has been commonplace in many countries since the 1960s. The phenomenon began at a time when social and ethical expectations were very different to those of today. These have changed considerably over time. Furthermore, the potential value of these collections has also grown over the decades both with advances in genetic analysis and also with the prospect of effective linkage to medical and other records.²⁶ This means that the nature and balance of the sum total of interests has shifted - as the public interest in these collections has increased, so too has the interest of private citizens in the secure and robust retention of their data and samples. A failure to appreciate and respond to these changing social circumstances has left the status of many collections in a legal and ethical limbo.²⁷ In some cases, a failure to engage families and publics about the existence and possible uses of such resources has resulted in numerous high-profile destructions of entire collections.

2.18 The most high-profile example of destruction comes from Texas. The state of Texas collected 5.3 million card samples from children between 2002 and 2009 and these were used, among other things, for anonymised research in 8350 cases and always with ethics committee approval. Research projects, including investigations into genetic causes of deafness, were published on the Department of State Health Service website. In a very small number of cases - 200 out of 5.3 million - identifiable research was carried out but this was always with the consent of parents. Notwithstanding these arrangements, the Texas Civil Rights Project brought a class action against the state of Texas for alleged violation of federal constitutional rights, notably that the unconsented use was an illegal search and seizure.²⁸ The state lost its motion to dismiss, i.e. - the court held that there were legitimate legal interests in play - and the state finally settled out of court before any action was given a full hearing.²⁹ The state agreed to destruction of the entire collection, despite its recognised research value. Any hope of reprieve was lost when it emerged that 800 samples had been sent to a federal Armed Forces mitochondrial database to assist in the ethnicity categorisation of remains of missing persons. Crucially, freedom of information documentation revealed that although the state had contemplated publishing the details of this agreement, it decided not to do so because of concerns about public reaction. This significant failure in transparency signalled the final end of the resource.³⁰ Similar law suits have been brought in the US state of Minnesota³¹ and in the Canadian province of British Columbia,³² both on grounds of alleged violation of privacy by retention and use of sample and data. There is no uniformity in North America as to the regulation of Guthrie collections.³³

2.19 It is important to note that these law suits only reveal that the legal status of newborn screening collections is unclear in the particular jurisdictions where the disputes have arisen. Thus, in the Minnesota example the Supreme Court recognised the lawfulness of the existence of the collection but noted that the applicable law restricted many uses to consent-only circumstances, e.g. for research. In the British Columbia (BC) situation, the validity of the legal basis for the plaintiff's claims was in question and the government argued that there was no genuine issue for trial. The Supreme Court of the province held that there was no such genuine issue either with respect to the taking of the samples or their retention for medical purposes. The court suggested that, on an objective view, a reasonable person in the circumstances of the plaintiff would have consented to such storage.³⁴ As to uses for medical research, this had happened on two occasions with the BC collection on an anomymised basis. Here the court did hold that there was a case to answer: "…it is the use of a sample for purposes other than promoting the health of the infant from whom it was obtained that raises a genuine issue for trial in this case."³⁵ However, because of the way that the case had been pled to the court, it was not possible for the judge to determine the issue. Instead, it recognised that a case could be made and gave the plaintiffs thirty days to amend their claim. To date, no subsequent action has been successfully brought.

2.20 Similar concerns about the legal status of Guthrie collections have arisen in Europe. Despite the existence and operation of collections around the European Union, the Irish Health Service Executive issued a notice of destruction in 2009³⁶ because it was concerned about breaches of European data protection legislation for want of explicit parental consent for retention and use of the resource. However, in a last minute reprieve, the Minister for Health issued a statement in March 2013 in which he announced a further review of the collection, and in particular an assessment of the legality of other European collections and the implications for Ireland. Minister James Reilly "…communicated his deep concern to the HSE that no action should be taken in relation to the destruction of Guthrie cards until an expert group can meet and that the group considers how these cards could be archived and maintained in a manner that meets the data protection commissioner's concerns".³⁷

2.21 Part of the concerns in Ireland were motivated by development in New Zealand and Australia. For example, while in New Zealand the retention and use of the blood spot collection is authorised by law, any population research on samples older than June 2011 can only be done with explicit consent. Importantly, however, other kinds of research do not necessarily require consent so long as there is appropriate ethical approval.³⁸ In Australia, the governance of collections is state-based albeit that there is no specific legislation in any single state and recommendations for national guidance have not been developed.³⁹ In Victoria, a Review Committee recommended that consent be the basis for future collection and use,⁴⁰ while in Western Australia police access to the Guthrie collection to investigate an alleged case of incest led to a policy of destruction of all cards older that two years.⁴¹

2.22 The lessons to be learned for Scotland are:

• The importance of determining the legal status of the collection
• The need to determine current and future uses of the resource
• The relative role and importance of consent in governing the collection
• The considerable value of transparency in all processes
• The vital importance of public engagement in determining the future of the collection.

2.23 The next chapter outlines the considerations which are in play in this discussion and offers a framework to approach the particular issues outlined above.