Ethical considerations

Next, we will explore some of the key ethical concepts in genomics. This is important for advocates to understand, so they are able to take full account of the range of values, perspectives and issues in play when undertaking and strengthening their advocacy work.

History

People have been thinking and writing about ethical, legal and social implications of health research for a long time. Cases such as that of Henrietta Lacks, a young Black US citizen whose cells were collected without her knowledge in 1951 and used to develop a wide variety of treatments for different diseases, have highlighted the need to treat people and their biological data safely and keep people informed about how it is being used.

By the early 2000s, when genomics began to gain momentum, academic ethicists were starting to consider the ethical, legal and social implications of genomic medicine. As sequencing technology has become faster and more sophisticated, and the range of possible uses for sequenced genomes continues to grow, there is more work to be done to ensure that the ethical implications are fully explored, the legal framework is appropriate, and the social implications continue to be understood.

Twenty years on, a report from the Nuffield Council on Bioethics (2023) collected 30 case studies and commentary on common ethical themes and contemporary challenges in this field.

Key elements

Let’s consider a few of the key ethical aspects in this step and the next one:

• Consent to collect genomes and data: is the person well informed?
• Data use: for whose benefit will data or samples be used?
• Family impact: who is affected? Who should tell them?
• Long term considerations: what might happen in the future?
• Religious interpretations

Informed Consent

One of the key ideas in genomics (and medical ethics more generally) is the concept of ‘informed consent’. Patients and research participants must give their informed consent before undergoing genetic testing. They also have the right to make an informed decision not to participate, and people must feel they are free to make either decision. This video (1 minute) explains more.

The three main features of informed consent are:

• Making a voluntary decision
• Being informed by balanced / objective information that addresses potential benefits and negatives
• Being able to change your mind at any time

This requires some background knowledge about genomics, some literacy skills to understand the patient information provided, and/or the capacity to make decisions. Where children are involved, parents or primary caregivers are usually asked to provide informed consent on the child’s behalf. This is a particular challenge for the longitudinal studies where children become adults and (may) need to re-consent to remain in the study (depending on the original wording), irrespective of their cognitive abilities at that time. There may also be situations where adults lack the capacity to make an informed choice. In these situations, another adult who has the right to do so, can consent on that person’s behalf.

Patient or research participant advocates can help people to find information about a proposed initiative, but they should not seek to influence anyone’s decision about participating (in favour or against).

You will find more case studies in the Further reading attached at the bottom of this step.

Data use

It is important to balance the needs of researchers with the needs of the people whose data is involved. This tension between utility and privacy is something that many genomics programmes have wrestled with, and which has challenged ethicists for many years. Some argue that data which was collected by publicly funded (government) schemes should be opened up for public use to the maximum possible extent. Others recognise that individuals still have some right to privacy, even if they stand to benefit directly from advances in genomic medicine and research.

It is current good practice for genomic datasets to be held within ‘secure data environments’ (or ‘trusted research environments’). These can only be accessed by researchers who have explicit permission to do so, and to undertake specific types of research.

One example of a conceptual framework which may be useful here is the ‘Five Safes’ model for public data use. This was developed in the UK during the 2010s and has been widely adopted by health data custodians there.

The five safes are:

• Safe data: data is treated to protect any confidentiality concerns: identifiable information (e.g. name, address, date of birth) is removed
• Safe people: researchers are trained and authorised to use data safely
• Safe projects: research projects are approved by data owners for the public good
• Safe settings: a secure data environment prevents unauthorised use or copying
• Safe outputs: outputs from the research are screened and approved and must not disclose personal details

For further details, see here.

Patient and research participant advocates may find this model a helpful reference, if invited to review any proposals for the collection, storage and use of genomic data.

Data access

The World Health Organisation advises that people whose genomic data is collected should have a say in how it is used.

It is good practice for an independent ‘access review committee’ or similar group to decide who should be allowed to use sensitive health data. It is best practice for this group to include people whose data is actually in the dataset. Later in this course you will find two case study examples, from the UK and Australia, where people whose data is collected have a direct influence on how it is used.

Guidance for Human Genome data collection, access, use and sharing

In November 2024, the World Health Organization (WHO) published guidance on how human genome data should be collected, used and shared. The aim is to make sure this is done fairly, safely, and in ways that build trust.

The guidance sets out clear principles. It emphasises the need to protect people’s rights, promote fairness and equity across communities, and foster transparency in how data is used. It also calls for efforts to ensure that the benefits of genomic research are shared as widely as possible.

Together, these principles provide a framework for good practice in many different settings, helping to strengthen global capacity for genomic research and ensure that it leads to better health for everyone.

We will continue with the ethical considerations in the next step.