Preparedness for Epistemic Fairness in Genetic Testing and Genomic Medicine

With the advent of scalable Next-Generation Sequencing (NGS) to identify disease-causing variants in patient DNA, the NHS is currently rolling out its nationwide genomic medicine service. Their hope is to re-orient the current service model towards personalised medicine, in which information about a patient’s genome is used to decide the most advantageous treatment options. 

The promise of genomic medicine extends beyond treatment: the hope is that this technology can be harnessed in a model of disease prevention, whereby genetic testing will be used to identify patients most at risk of developing diseases before symptoms appear. In the practical example of pharmacogenomics, a genetic test result can be used to predict whether a patient will respond quickly, slowly, not at all, or adversely to a given medication. Not only does this protect patients from adverse drug reactions (ADRs), but it’s also a way for the NHS to economise; ADRs cost the NHS an estimated 2.2 billion pounds a year to treat. 

The NHS is charging ahead with this technology, with the Accelerating Genomic Medicine Strategy full of cinematic language such as “ground-breaking”, “cutting-edge”, “world-leading” and “revolution”. Already, regional Genomic Medicine Alliances, Genomic Laboratory Hubs and the Genomics Education Programme are the new normal, and the offer of Whole Genome Sequencing (WGS) in “routine care” is expected to become commonplace. Clinical researchers are forensically weighing up the benefits and challenges of embedding genomics at the GP surgery, while nursing and midwifery have been targeted as key areas for genomic practice expansion.

But for how many people is genetics a concept that they studied during their GCSEs and haven’t thought about since? For how many more people, those without any level of science education, is it something they have never considered? And yet, the personalised medicine model proposes that patient care should henceforth be guided by complex genetic information which patients may or may not be fully equipped to engage with meaningfully. 

Re-orienting care towards genomics is not without risk of hermeneutical injustice, where a patient’s treatment plan is explained using terminology which is largely unfamiliar to them; patients therefore risk being excluded from making sense of their own experiences. The inverse could also be true: a clinician may perceive a patient as unable to understand the underlying logic of genetic test results and therefore feels inclined to withhold some or all of this information, resulting in informational prejudice. 

However, alongside this re-arrangement of service models, a quieter revolution is taking place: social scientists and ethicists valiantly work to keep up with each new technology as it’s approved and rolled out. The Wellcome-funded Ethical Preparedness in Genomic Medicine (EPPiGen) project (2017-2025) dissected social and moral dilemmas of wide-scale genomic medicine implementation. EPPiGen’s focus was on the use of creative and participatory methods to explore the experiences of families accessing genetic testing; the team’s compassionate studies warmly complement the proof-of-concept molecular research which genomics more typically brings to mind. 

When researchers, doctors and families work together, we can head-off ethical dilemmas caused by genomic medicine.

As more and more clinical care is guided by genomics going forward, it becomes crucial to assess the dangers of epistemic injustice as a barrier which may exclude patients from fully participating in decisions made about their healthcare. Just as genomics relies on cutting-edge DNA sequencing technology, it should also acknowledge the powerful perspectives that social scientists, philosophers and ethicists can offer. 

The genomic revolution calls upon GPs, nurses, pharmacists and other clinicians to re-train towards a sparkling new iteration of their roles: something akin to a genetic educator, in addition to the rest of their work remit. This makes sense, given that clinicians are the ones who will be explaining complex genomic concepts to patients. Will updated training support clinicians in communicating genomic concepts effectively, in order to mitigate the potential epistemic fallout of these conversations?

The NHS does indeed evangelise genomic medicine, and rightly so - after all, its benefits are both hugely evident and also yet to be fully realised. But amongst the increasingly impressive test printouts, it remains crucial not to lose sight of the patient perspective. Going forward, researchers and policymakers will need to work together to understand how to keep epistemic fairness at the heart of widescale genomics implementation. At the same time, clinicians must support patients in understanding the complex nuances of this new model of care, thereby protecting patients’ capacity to make informed treatment decisions.

Sophie Webb is a Research Associate in Psychology at the University of Birmingham, as well as a part-time Genomic Medicine student. She is interested in patient and practitioner experiences of genomics implementation in the NHS, particularly communication challenges in genetic counselling. Her other interests include neurogenetics, and patient and public involvement and engagement (PPIE) in lab-based molecular research. She would love to chat on Bluesky or LinkedIn!