The Realising Genomics project is a PHG Foundation initiative to generate new conceptual and policy guidance to support the clinical implementation of whole genome sequencing (WGS) and whole exome sequencing (WES) in the UK NHS. This note describes the discussions and outcomes from a workshop: Realising Genomics in clinical practice: the research clinical interface - the second of four multidisciplinary workshops held as part of this project.
The distinction between clinical care and research is clear from a regulatory perspective: different ethical and legal principles apply, but there is concern that technological developments in genomics are moving at such a rapid pace that this boundary is becoming increasingly blurred and that it is often difficult for patients to distinguish these activities. The purpose of the workshop was to explore this interface from the perspective of a variety of stakeholder groups and consider how it impacts on the implementation of these technologies.
The primary concern of clinicians is to provide care for their patients. Sometimes this involves accessing interventions that are only available in research settings. Whilst clinicians generally are clear about the differences between clinical care and research, there are a number of reasons why this boundary sometimes appears blurred:
The legal obligations arising in clinical care and research are not always easy to characterise. Some questions relate to the data that is generated: who has access to this data for what purposes? Other elements concern rights of disclosure (for example to be warned of a genetic risk). These rights should be balanced against ‘the right not to know’. In a genomics context, the extent of sharing data with family members is also an important issue.
The law in the UK is complex, comprising common law duties (such as confidentiality); statute (such as the Data Protection Act 1998 and Human Rights Act 1998); and softer law (including the Council of Europe Convention on Human Rights and Biomedicine, associated Protocols and professional guidance). Two distinct types of claims are relevant when considering obligations arising from information management: those which protect individual autonomy, which tend to be seen as absolutist, and privacy claims, which are not regarded as such.
The workshop discussed the scope of the duty and standard of care arising in research and in clinical care, and the impact that introducing WGS and WES might have. In the absence of determinative legal cases, a British court might question whether revising the standard of care to take account of WGS / WES is fair, just and reasonable. A court might also consider how the context of research or clinical care might require or prohibit certain behaviours with the information that is generated.
There are good reasons for applying different ethical frameworks to research and clinical care: the motivations for each are different, where harms result they are different, and a clear distinction between the two minimises the therapeutic misconception (i.e. the misguided asumption that the researcher is necessarily acting in the best interests of an individual patient).
Clinical ethics has adopted a patient-centred approach where the patient’s best interests frame the debate. In a research setting, the principles of autonomy and that of imposing a minimal risk together frame the ethical approach. Research ethics also takes account of the wider interests of society, such as the generation of new knowledge, rather than individual interests.
How clear is the interface between research and clinical care in genomics?
There was a clear consensus amongst workshop delegates that research and clinical practice are viewed and pursued as separate activities by clinicians. However, these activities are inter-dependent at times, making the boundary between them sometimes permeable and ambiguous. This distinction was felt to be less clear to patients who sometimes regard research activities as an extension of their clinical care.
What impact does the use of WGS and WES have on this interface?
The impact of the implementation of WGS and WES both in clinical genetics services and more widely, will depend on how and where they are used. Thus relevant questions concern the extent to which sequencing, annotation and interpretation are targeted differently for clinical or research contexts. Research may require a lower degree of clinical utility and analytical validity; thus results generated in a research setting that are applied for clinical use will need to be validated and verified. Many delegates had reservations about applying lower thresholds of utility and the potential destabilisation of existing clinical service provision. Delegates also noted that the scale of the results likely to be generated, the absence of a robust evidence base and the lack of resources to fund resultant patient care create serious concerns that patients may not be adequately supported through this process.
Would the introduction of a hybrid model be necessary or desirable?
There was support for a model of practice that enabled both clinical care and research to be done in parallel, but not for a distinct category or hybrid activity in which clinical and research elements were indistinguishable from an ethical and regulatory perspective.
We will be addressing these issues with invited stakeholders at further workshops in the Realising Genomics project series. The final report will be published in autumn 2014.