During that period blood samples taken from babies to run the heel prick test – the neonatal bloodspot, or ‘Guthrie’, test, regularly carried out on newborns to test for a number of genetic conditions – were routinely stored, indefinitely, by the NHS on a card with the baby’s name on it. This might come as a surprise, even for those whose samples are currently being stored in this way, because parents were never asked or informed about this.
At a certain point it became clear to those involved that the ethics (and legality) of continuing to routinely store these samples without clear consent to do so was dubious. Practice changed in 2003 and from thereon parents were asked to provide written consent for their child’s samples to be retained. However, information about how these samples and information extracted from them might be stored and used was unclear meaning that a question mark now hangs over storage and use of the entire collection.
These blood samples are stored on what are known as ‘Guthrie cards’, named after Robert Guthrie, the American bacteriologist and physician who devised the Guthrie test in 1962. Scotland’s Guthrie card collection is one of the oldest and largest collection of newborn blood samples in the world. Astonishingly, there are currently three million of them.
What should be donewith the Guthrie cards? Because of the issues withobtaining consent for storing them, there is currently a moratorium on usingthem for research. Some might argue that because parents were not consulted orinformed, and because many of those whose samples were taken as babies are nowadults, that they should be disposed of all together.
However, there is clearly huge potential for genetic and other information that might be extracted from the Guthrie collection to be used in health research. There is a hope that Guthrie cards could be linked to individuals’ medical records using the community health index, a register of all patients in Scotland, providing opportunities for longitudinal studies spanning decades. The value of the Guthrie collection is not only in its size. The extremely broad coverage of the collection makes it is an unusually representative sample. For a range of reasons not everyone is able to take part in health research and studies often do not involve participant groups that are representative of broader populations. The Guthrie collection, on the other hand, covers nearly the whole of the Scottish population.
Genetic information is a valuable commodity to researchers and this value has grown as we have become better at sequencing and interpreting it. The speed at which a person’s genome can be sequenced has increased rapidly since the first human genome was sequenced in 2001 and during this time there have also been significant advances in our understanding of human genetics and how genes relate to health, disease and other characteristics. This information can have very practical uses. The NHS already offers specialised clinical genetics services for the treatment of genetic disease. The UK also committed in 2017 to developing a genomic medicine service in the NHS that it is hoped will underpin more personalised medicine services for a wider range of patients and which will use genetic information to diagnose conditions more quickly, and provide people with treatments to which they are genetically disposed to respond better. There is still, however, a huge amount that we do not understand about human genetics and there is ongoing research into how genes affect cancer, cardiovascular disease, autoimmune conditions, psychiatric disorders, and others. So the prospect of throwing away samples capable of generating three million sequenced genomes that might be used for research is likely to be seen by many as quite galling.
Mandating use of the cards would not be straightforward, however. People might be concerned about being identified by information extracted from their Guthrie cards in ways that might disadvantage them. People might feel that their privacy has been infringed in finding out that samples of their own, or their children’s, blood, having been kept for decades without their permission, now might be passed on to others. The 2014 report Guthrie cards in Scotland: ethical, legal and social issues, co-authored by former Council member Graeme Laurie, examined many of these issues including the legal basis on which the samples can be stored, and issues relating to consent, anonymisation, access and governance
Finding a way of navigating these issues is currently thesubject of active consideration by the Scottish Government. Earlier this year Iwent to a workshop on use of the Guthrie collection organised by the ChiefScientist Office of the Scottish Government, who are now thinking seriouslyabout what to do with the collection. The meeting gathered around 50 peoplefrom the NHS, universities, Government bodies, research funders, charities andothers to consider this question. The aim of the meeting was to discuss therisks, benefits and other issues relating to the possible use of the collectionfor health research and to pave the way for a public consultation on the topic.
A strong point of consensus at the Scottish Government workshop was that nothing should change before the public are consulted, though the challenges of conducting such an exercise in a meaningful way were accepted. The possibility of introducing an ‘opt out’ model was explored and a number of questions on this raised: might people be able to opt out of having their information made available to some organisations, such as private sector businesses, but not others? Could people opt out of sharing their information, and opt in again at a later point, or vice versa, if they change their minds? Who would manage the information extracted from the Guthrie cards and how would its use be governed and controlled? Participants expressed concerns that some might miss a consultation and have their information made available for research, unbeknownst to them. Others expressed the view that everyone has a civic duty to share health and genetic information, given that each of us will benefit from treatment informed by health research at some point in our lives.
One thing on whicheveryone seemed to agree on is that the Guthrie cards cannot simply be left tolanguish in secure storage and that a decision, informed by public discussion,about what to do with collection needs to be made.