Ethics: wider implications

Family implications

As we have already seen, genomic variants can be inherited between family members, across several generations. Discovering that a close family member has a heritable disorder can be a very worrying time for the whole family.

In these circumstances, families may be offered something called ‘cascade testing’. This is where other potentially affected individuals can be offered the opportunity to find out whether they also have the disorder, or carry the genetic variant associated with the condition.

The emotional and practical challenges involved here can be significant, especially if family members are estranged or unaware of each other’s existence. There are ethical challenges to unpick: who should be informed about the disorder, and by whom?

Cascade testing can be offered in both clinical care and research, but the approach is not the same.

In clinical care, healthcare professionals may be limited in who they can contact directly because of patient confidentiality. This means they often rely on the patient, or sometimes their carer, to share information with family members who may also be at risk. The aim here is to support relatives to access testing and, if needed, start monitoring or treatment as early as possible.

In research, the situation is different. Each study should have its own reporting protocol, which sets out in advance whether cascade testing will be offered, and how any results will be communicated. Research studies are primarily designed to answer scientific questions, so they may not always include cascade testing. Where it is included, the processes are usually different from those in clinical care and are guided by the study design and ethical approvals.

Long term implications

Once a genome is sequenced and the data is filed electronically, it can be kept for many years (subject to funding and organisational stability). This data can potentially be revisited at key points over someone’s whole lifetime. This could be a very valuable scientific resource but it also has current and future implications for the people who choose to share their genomes.

Data custodians should always explain what parts of the genome are of initial interest when they first sequence someone’s genome, but they should also keep people informed about potential new uses for this data as they are developed in the future. Due to the rapid pace of discovery in this field, especially where AI is being applied, it is impossible to guess where the science could be in even 10 years from now.

Patient advocates (and the wider public) should be involved in ongoing discussions with data custodians about evolving analysis methods, and should help to ensure that nobody is disadvantaged in the future by their decision to share their genome in the past.

For example, Genomics England recently conducted a study to consider the ‘Lifetime genome’ idea in some depth. Recognising that wider society should be involved in discussions like this, they have convened a Public Standing Group to debate the issues (2024-25).

Gordon Bedford (group member) says:

Being part of the [discussion] group showed me how genomics is both thrilling and daunting. I’d lean towards ‘yes’ for a lifetime genome resource for the chance to detect conditions early, but I get why some people may say ‘no’ over the data fears or ethical lines. This isn’t just a science project, it’s about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction. Laws would have to be enacted regarding the storage, use and availability of genetic data. We haven’t yet seen as well, how AI’s complete benefits in medicine will develop over time.

Religious considerations:

For some religious groups, there are other factors to consider when deciding whether or not to have medical treatment. Some of these concerns may also apply when considering signing up for genetic testing or donating genomic data to research projects.

For example, in order to address this topic from an Islamic perspective, Qatar Biobank has consulted Islamic leaders about the acceptability of donating biosamples. A summary of their comments can be found on their website here.

In the next step we will discuss one of the fundamental ethical challenges in genomics, that is the question of equity: who has access to research and healthcare in this field, and who does not? Whose voices and ideas are shaping the development of genomics around the world, and whose are not?

Before that, have a go at some of the discussion questions below.

Discussion/reflection:

Pick one or two of the questions below and leave your comments in the comments sections below. Try to reply to some of the other learners’ comments:

• Is it enough to rely on guidance and frameworks when we think about the ethical use of sensitive health data?
• What do you think are the key factors required to ensure that the interests of the people who have agreed to share their data are respected?
• Where do you think the balance should lie between maximising the use of this data and protecting the privacy of the individuals involved?
• Is there a role for patient advocates here?