Familial genomic information

Report published: Familial genomic information: scope, context and implications for practice

This report outlines the case for further guidance and related support to healthcare professionals to maximise the possibility of genomic information being shared with all relevant family members.

Genetic and genomic test results are often relevant to more than one family member. Professional guidance has long held that healthcare professionals must balance their duty of confidentiality to their patient with the prevention of harm to others.

The welcome judgement of ABC v St George’s Healthcare NHS Trust established a legal duty to consider the disclosure of information in particular circumstances where a relative is at risk of serious harm. However some healthcare professionals have faced difficulties in understanding how to implement current guidance and how to interpret the ABC v St George’s Healthcare NHS Trust case.

A workshop jointly organised between the PHG Foundation and Centre for Personalised Medicine, University of Oxford, and led by Professor Anneke Lucassen, asked

• What are the considerations and challenges encountered in clinical practice in relation to sharing genomic information with a patient’s biological relatives?
• How do ethical and legal obligations impact on professionals and their practice?
• What are the implications of the ABC judgment? How might the judgment make a difference to practice or guidance?
• How might guidance such as that from the JCGM on consent and confidentiality be updated?

Genetic and genomic test results frequently have implications not only for the person identified  with a genetic condition but also for other family members. Communicating test results requires counselling that is sensitive consideration of family dynamics at what is often a complex and difficult time. Support to understand the importance of sharing results is also important.

In some cases a patient may refuse to share information themselves or to consent to disclosure of this confidential patient information  directly to relatives. In making the difficult decision to breach confidentiality, the healthcare professional must weigh the patient’s rights and interests (and the public interest in maintaining medical confidentiality) with the significance of the information for relatives.

As genome sequencing becomes mainstream and the genomic information generated in clinical and closely aligned research studies increases new pressures on clinical practice emerge and there maybe less time and expertise available to deal with such dilemmas. Such issues arise in at least half of all cases discussed at the UK Genethics Forum.

In order to set appropriate and consistent policies for the management of familial genomic information across the healthcare system, there is a need  to review the ethical debate, the range of international approaches adopted to this issue, and an 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.