Genetic and genomic test results frequently have implications not only for the patient or proband but also for other family members. Managing and facilitating the communication of these results requires counselling and support to explain the importance of sharing results and sensitive consideration of family dynamics at what is often a complex and difficult time. In some cases a patient may refuse to share information themselves or to consent to disclosure of what is confidential patient information by a health professional directly to relatives. In these circumstances HCPs need to make a difficult decision that weighs the patients’ rights and interests (and the public interest in maintaining medical confidentiality) with the significance of the information for relatives, to decide whether to breach confidentiality. The case of ABC v St George’s Healthcare NHS Trust confirmed that this balancing act is a legal as well as a professional obligation.
While this is a longstanding aspect of genetic medicine there are new pressures on practice as genome sequencing becomes mainstream and as increasing volumes of genomic information are generated in clinical and closely aligned research studies. This means there may be less time and expertise available in dealing with such dilemmas.
In order to set appropriate and consistent policies for the management of familial genomic information across the healthcare system, there is a need for a comprehensive and up-to-date consideration of the ethical debate, the range of international approaches adopted to this issue, and a full evaluation of the legal framework governing familial genomic data. The legal dimensions include confidentiality, privacy and data protection law, which we have already identified as giving rise to significant ambiguity in reconciling the interests of multiple family members in the same data.
In this project we are working with clinical colleagues and ethical and legal experts to identify challenges in practice, conceptual debates and legal ambiguities. We will conduct ethical and legal analysis and engage with diverse stakeholders to address these challenges and obtain greater clarity and—where possible—consensus on ways forward for professional guidance, and improvements to legal or ethical frameworks in this area.
In the first phase of this work we have partnered with the Centre for Personalised Medicine, University of Oxford, led by Professor Anneke Lucassen. We jointly organised a workshop on this topic with academics with a research interest in ethics, law and professional practice, practicing lawyers with an interest in relevant caselaw, clinicians and members of professional groups or patient organisations. A report from this workshop is forthcoming and we will build on this with a second phase of the work to address outstanding issues.