Outline

The PHG Foundation, Cambridge, and the Centre for Personalised Medicine at the University of Oxford, in association with the British Society for Genetic Medicine, held a half-day meeting on 23 November 2023 at St Anne’s College, Oxford, on the legal and ethical challenges raised by the discovery of familial genomic information in healthcare through the testing of an individual. This document is a starting point for discussion and agreement on focus and format for the meeting as well as planned outputs and background material.

Background

The question of how genetic and genomic test results that are relevant to more than one family member should be managed has been a topic of debate for several decades in healthcare. However, the difficulties of balancing duties of care where information revealed is both personal and at the same time familial, continues to place clinicians in uncertain situations.

Such issues arise in at least half of all cases discussed at the UK Genethics Forum – a multidisciplinary discussion forum for health professionals, which has held 70 meetings over more than two decades. Professional guidelines such as those from the General Medical Council have long recommended a balancing exercise between one patient’s confidentiality and the prevention of harm to another.  However, the governing legal framework (including common law and legislation relating to patient confidentiality, privacy, human rights, personal data and professional responsibilities) did not offer unambiguous support for this. The seminal 2020 judgment of the High Court in ABC v St George’s Healthcare NHS Trust sets an important precedent by establishing a legal duty to consider disclosure of confidential information without consent if another person is at risk of serious harm in certain circumstances.  But the nuances of this judgment and its precise implications are not necessarily clear to all working in healthcare, or hospital legal teams often called upon to advise. Challenges relating to other aspects of the legal framework (such as how to reconcile multiple individual interests in relation to the same ‘personal data’ under data protection law) also remain.

Approaches that frame the duty of confidentiality differently have been proposed but not yet widely adopted in clinical practice. For example, whether it is possible to alert relatives of their risks without breaching the confidences of another.[1]  Debate continues about the appropriate nature and scope of professional and ethical obligations[2] and relevant conceptual underpinnings, such as the extent to which relational aspects to autonomy should guide decision-making in this area.[3]  

Achieving greater understanding and consensus in relation to these topics could have significant value for professional guidance, professional practice and even the determination of future legal claims or legislative reform. 

The event

Revisiting the legal and ethical framework surrounding familial genomic information in healthcare and research

  • The event will consider the ethical aspects and legal framework governing familial genomic information in research and care, as well as professional responses to, and implications of, the ruling in ABC v St George’s Healthcare NHS Trust.
  • It will involve discussion of competing conceptions of autonomy, confidentiality and privacy in the genomic context and implications for practice as well as the existing legal framework.
  • The aim of the meeting will be to generate recommendations for areas of further research into patient/public thinking about these ethical and legal aspects, as well as highlighting policy considerations for professional bodies and those involved in law reform.

Who should attend?

  • The event will assemble a mix of legal and clinical professionals, academic experts and representatives of professional bodies responsible for relevant guidance
  • This will include academics active in this area, legal experts in relation to relevant areas of law (Data, Privacy/confidentiality), genomics professionals and representatives of relevant initiatives (e.g. GEL) and bodies (e.g. law commission, Information Commissioner’s Office).
  • Whilst we hope to incorporate international perspectives  from other countries/jurisdictions/health systems to provide insight from alternative and related  perspectives in the long term, this meeting will be focussed on the UK landscape and the analysis of how the ABC versus St George’s case has been interpreted thus far

Format

  • An afternoon workshop of ~ 45 people in Oxford with Sessions around ethico-legal aspects (e.g. confidentiality, data protection) and examples of how the issue arises in clinical examples practice. Outputs
  • A briefing to outline relevant ethical and legal issues and framework, acknowledging the context of genomic information being generated and stored at ever increasing scale in research and healthcare (e.g. Newborn sequencing initiatives).
  • A meeting Report providing a high-level summary of presentations/discussions and key conclusions/recommendations, including priorities for further research/deliberation.
  • It is hoped the outputs of this meeting will help inform revision of the Joint Committee of Genomics in Medicine report on consent and confidentiality in genetic medicine (2019)[4]

[1] Alerting relatives about heritable risks: the limits of confidentiality | The BMJ

[2] Lucassen, A, and Clarke A . “In the family: access to, and communication of, familial information in clinical practice.” Human Genetics 141.5 (2022): 1053-1058.

[3] Dove, Edward S., et al. “Beyond individualism: Is there a place for relational autonomy in clinical practice and research?.” Clinical ethics 12.3 (2017): 150-165.

[4] Consent-and-confidentiality-in-genomic-medicine-July-2019.pdf (rcpath.org)