Genomic medicine strategy 2024 to 2029

13. Ethical and Legal Frameworks

Ethical and legal frameworks

Genomic information raises a number of ethical issues and, under the UK implementation of the General Data Protection Regulation (GDPR), is classed as identifiable information. This raises particular considerations both for NHS organisations producing genomic information, and for those working with it. The implications and insights generated from genomic information, however, are difficult to predict and this impacts both on informed patient consent and consent processes. Furthermore, the value of genomic information lies in its comparison and linkage with other sources of genomic information and wider clinical datasets, which can have unintended consequences around health data inequalities and genetic discrimination.

Background

To date in Scotland, there has been a high level of public trust in the use of healthcare data for clinical services, research and population-level health screening. This is evidenced by recent publications from the Office for National Statistics (Trust in government, UK) and reports such as Data Dialogues 2 and Public attitudes to data and AI: Tracker survey (Wave 2).^{27, 28, 29} Attitudes of participants within a Scottish Genome Partnership study on the acceptability of data access for the clinical reuse and reanalysis of samples and data within a rare disease setting was positive, with the potential risks seen to be outweighed by the benefits of new diagnostic information.^[26] A Citizen’s Jury convened around the potential for newborn bloodspot cards (known as Guthrie cards) to be reused for health data science and predictive medicine concluded that the benefits would be of potential value but wanted assurances around how potential research would be conducted and monitored.³⁰

Where we are now

We operate within ethical and legal frameworks that govern the way in which genomic data can be used, but there are numerous areas of ambiguity that can be, and have, been interpreted differently across Scotland. Health Boards, safeguarding data as part of their legal responsibilities, approach data sharing differently and sharing genomic information for clinical service, audit and research is currently associated with significant costs in terms of staff time and resource.

A further complication is the fine line within genomic medicine between what constitutes a clinical use and a research activity, particularly in clinical pathways where research has now become an element of standard care. This was highlighted by the recommendations of the Equity of Access to Cancer Clinical Trials Short Life Working Group which described the value in cancer care of linking genomic testing with engagement in research.^[31] The O’Shaughnessy review, commissioned by the UK Government into the UK commercial clinical trials landscape, also recommended that patients receiving genomic sequencing of any kind be offered a standard consent for engaging in research.³² It is important that any models adopted to increase opportunities for access to cancer research are, from the outset, considered more broadly to extend the same opportunities to people with rare conditions and other specialties with genomic targets as far as possible. There are a number of initiatives underway that we need to engage with and key publications regarding the ethical use of digital information (Ethical Digital Nation, Unlocking the Value of Data, A changing nation: how Scotland will thrive in a digital world).³³

Safeguards against genetic discrimination

There are existing UK-wide safeguards around genetic discrimination, including the Association of British Insurers Code on Genetic Testing and Insurance, an agreement between the UK Government and the insurance industry stipulating that no one can require or pressure someone to have a predictive or diagnostic test under any circumstances, or ask for results of genetic testing to be disclosed, with the exception of Huntington’s disease in applications for life insurance cover above £500,000.^[34] There are also overarching frameworks such as the UK Government Data Ethics Framework.^[35]

Fit-for-purpose consent models

We will identify and develop standard models of informed consent for genomic testing that are consistent with the British Society for Genetic Medicine guidance on consent and confidentiality, and that support participation and use of genomic data within research and innovation, recognising this activity as a key driver of genomic medicine.^[36] In doing so, we will ensure that consent processes are not overly burdensome for staff, patients and families, recognising the existing knowledge and expertise of NHS staff of both clinical and research consent processes. We will also work with service users to ensure that consent models are supported by accessible and appropriate information resources and support person-centred, coordinated care pathways.

Information Governance

As we develop national data solutions and digital infrastructure for genomic medicine in Scotland we will work with Information Governance (IG) personnel within the NHS and with the Information Commissioner’s Office (ICO) as early as possible to ensure that governance frameworks are fair and lawful, enable wider, appropriate access to genomic data and protect against possible harms. We will work in partnership with different stakeholders around IG and data requirements to ensure that genomic data can be shared, received and integrated lawfully with NHS laboratory data, and to ensure that different models of partnership working with patients and families and other sectors including academia, industry and the third sector are considered from the beginning. We will also ensure that we develop an IG framework that is in line with our wider health and social care data strategies and define clearly what a ‘Once for Scotland’ approach means for individual Health Boards and organisations around genomic medicine services.

Research governance

There are well established governance controls in place to ensure that research involving patients, and the use of patient data and tissue is ethical and protects the rights, safety, dignity, privacy and wellbeing of research participants. This includes independent review of research and approval by NHS Research Ethics Committee, and the Public Benefit & Privacy Panel for Health & Social Care (PBPP). We will work with key stakeholders to support appropriate use of genomic information in research and also to ensure that they are involved in the development of consent models to identify and minimise obstacles to the use of genomic information for audit, research, development and innovation.

What will this mean for people of Scotland?

People using genomic services or tests can be confident that their data is being used safely, securely and in a legal, ethical manner appropriate to its purpose.