3 July 2019
Fresh guidance from UK leaders in genomic medicine sets out how health professionals should protect patients and their genomic data before and after testing.
The new report is from the Joint Committee on Genomics in Medicine of the Royal College of Physicians (RCP), Royal College of Pathologists (RCPath) and British Society for Genetic Medicine (BSGM). It is the third such report produced, updating earlier guidance from 2006 and 2011 in the light of the significant developments in genomic medicine in recent years.
The authors are Prof Anneke Lucassen of the University of Southampton and Wessex Clinical Genetics Service, who is BSGM Chair, and PHG Foundation Head of Humanities Alison Hall, who chairs the BSGM Ethics and Policy Committee.
In an introduction to the report, Prof Sir Jonathan Montgomery notes that, whilst good stewardship of genetic information is ‘essential to the provision of high-quality care’, it can be difficult for NHS staff to understand the regulations that control such stewardship. The new guidance is intended to provide clarity for health professionals in understanding the law, regulations and ethical expectations with respect to genomic data, not least in the light of the recently implemented General Data Protection Regulation (GDPR).
A further issue is that the traditional distinction between research and clinical care – with distinct processes and expectations for consent and confidentiality in each case – is not really effective in genomic medicine. Instead, the boundaries between the two areas are blurred – inevitably, in a rapidly developing field but one where newly identified information could have immediate import for other patients. However, it does not make life easier for NHS staff trying to balance the medical needs of patients against those of family members, and seeking to maintain ethical practice and legal and regulatory compliance.
Issues can arise due to the nature of genetic inheritance: findings in one person could also have important medical implications for other members of their family. Whilst confidentiality and trust are important elements of healthcare provision, the report notes that providing a person ‘with a right of veto over communicating such information may be unsound’ because of the potential health impacts on relatives.
Broadly, the guidance also emphasises that the duty of confidentiality is not absolute, but is rather balanced by a duty of disclosure under certain circumstances. In some cases it may be possible to share important information about genetic disease risk (based on shared familial inheritance) without also sharing confidential clinical information about the individual through whom the findings first came to light.
The evolving nature of genomic medicine is also underlined in the report, which notes that there are ‘many possible outcomes from a genomic test, now and in the future, anticipated or unexpected, individual or familial’ and that patients should be warned about the uncertainties arising from potential testing, including scope for re-interpretation of findings in the future as more knowledge emerges. Processes for discussing these issues and obtaining broad consent are outlined along with model forms for documenting such conversations.
It is also noted that, ‘in the absence of systematic mechanisms for updating findings, health professionals and patients may need to share the responsibility for ensuring that updated information is sought/ communicated’. This being so, conversations about genomic testing must cover the issue of potential re-contact.
The knotty problem of incidental findings, or more specifically ‘additional looked for findings’ is also tackled. Genomic testing has scope to identify potential medical issues beyond those under investigation, but how advisable it is to undertake this form of opportunistic screening remains uncertain. Evaluation of the offer of testing for a highly select list of additional looked for findings to participants in the 100,000 Genomes Project is said to be planned ahead of consideration of policy within the new NHS Genomic Medicine Service.
Overall, the new report provides useful case studies and scenarios for consideration, as well as templates and sources of further information for health professionals, making it a very practical resource for all those involved in genomic testing. It also underlines the potential value of the multidisciplinary team (MDT) or other groups where difficult consent and confidentiality issues arising in clinical practice can be discussed.
Some issues may become clearer as the NHS Genomic Medicine Service takes off, but as many pressing ethical and legal concerns remain for health professionals working in genomic medicine, the guidance is both highly relevant and timely.
Download the report here