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!

Tackling Hermeneutical Injustices in Gender-Affirming Healthcare

As any trans person will tell you, it is a scary time to be living in the UK. One reason is that gender-affirming healthcare is becoming increasingly hard to access. In December 2024 the Health Secretary made a ban on prescribing puberty blockers to trans adolescents permanent, following the recommendation of the deeply flawed Cass Review. This ban has been criticised by several relevant professional bodies, diverges significantly from the consensus on best practice in peer countries, and flies in the face of decades-long histories of these drugs’ safe and effective use.

                                               
           

As a result, trans adolescents are being forced against their wills to undergo puberties distressingly at odds with their gender identities. Simultaneously, trans adults hoping to access gender-affirming healthcare from the NHS are being made to wait several years for their first appointment at a Gender Identity Clinic (GIC). These long wait times are taking a considerable toll on their mental and physical health. Moreover, convincing the relevant doctors at a GIC of their need for gender-affirming healthcare is no longer always sufficient since some GPs are unilaterally refusing or reversing GICs’ recommendations to prescribe hormones to their trans patients.

  

Trans identity and hermeneutical injustice

In addition, convincing the relevant doctors at a GIC of their need for gender-affirming healthcare is not always easy. Doing so is a matter of a patient rendering it intelligible to these (usually cis) doctors that they are indeed trans. This can prove difficult when the relevant doctors employ overly-narrow conceptions of transness. For instance, gay patients sometimes struggle to render their transness intelligible to doctors who assume that to be trans is necessarily to be straight. 

Similarly, non-binary patients sometimes struggle to render their transness intelligible to doctors who assume that to be trans is necessarily to identify as either a trans man or a trans woman. Moreover, that doctors sometimes work with such overly-narrow conceptions is a result at least in part of trans people having been deprived of opportunities to shape how people think about transness. In sum, trans adults sometimes suffer hermeneutical injustices when attempting to access gender-affirming healthcare from the NHS.

What can be done?

What should be done to prevent such hermeneutical injustices? In a recent paper, I distinguish between two sorts of strategy that might be pursued to this end. Interests-as-given strategies would take for granted trans patients’ interests in it being intelligible to the relevant doctors that they are indeed trans, and aim only to enable them to satisfy these interests. For instance, we might look to educate the relevant doctors or to engage in political activism aimed at propagating better-fitting conceptions of transness. 

All previously proposed strategies for preventing hermeneutical injustices are of this sort, yet it is sometimes possible to go about preventing hermeneutical injustices very differently. An interests-in-question strategy would instead look to do away with trans patients’ interests in it being intelligible to the relevant doctors that they are indeed trans, and thus with the possibility of these interests’ unfair nonsatisfaction. 

Consider that trans patients only have these interests in the first place because the prevailing gatekeeping model makes it a requirement on the provision of gender-affirming healthcare that trans patients first convince the relevant doctors at a GIC of their need for it. I argue on grounds of trust, privacy, and respect that the NHS ought to cease making this a requirement. One way to do so would be by switching to an informed consent model, under which pretty much all that a well-informed adult capable of consent would have to do to access gender-affirming healthcare would be to ask for it – an example of a more materialist strategy for preventing hermeneutical injustices. 

Unfortunately, in a time of intense anti-trans backlash it seems unlikely that the NHS will make such a progressive move anytime soon. We thus may need to think about what else can be done to prevent such hermeneutical injustices in the unjust meantime.

Nick Clanchy is a Postdoctoral Research Fellow with a joint appointment at the Canada Research Chair on Epistemic Injustice and Agency (UQAM) and Le Centre de Recherche en Éthique (UdeM) in Montréal, where they are also a member of the philosophy department at McGill.

Most of Nick's work is dedicated to thinking about hermeneutical injustices. They also have research interests in trans philosophy, the philosophy of love, and the work of a number of figures on the margins of philosophy - especially Roland Barthes. 

More about Nick and their work can be found here.

Deaf Interpreters and Epistemic Injustice

Today's post is a summary of Dr Kristin Snoddon's upcoming talk for the Linguistic Justice Society on the 27th of Jan, at 8:00 EST or 14:00 CET. You can register for the talk here. 

Deaf people are generally at greater risk of epistemic injustice—being wronged in their capacity as knowers—due to not being understood by those around them. In Fricker’s (2007) famous taxonomy, epistemic injustice encompasses testimonial injustice—being wronged as a giver of knowledge—as well as hermeneutical injustice—being wronged as a subject of social understanding. Deaf people also experience the epistemic exclusion which occurs when disabled people’s knowledge is refused admission into the general stock, and are perceived as having reduced moral status.

An example of testimonial injustice, compounded by having a perceived reduced status, occurs when a deaf person giving an account of their social experiences is not seen as credible. These social experiences could, for example, relate to not being understood, not understanding what has been said, and/or being left out of conversations. Hermeneutical injustice can be said to occur when due to other people’s lack of familiarity with deaf people’s social experiences, those experiences are not understood. This is because other people lack the conceptual resources to make sense of the deaf person’s behaviour. As Caponetto and Piazza wrote in an earlier blog post, hermeneutical injustice feeds off testimonial injustice since not being believed and not being understood are mutually reinforcing phenomena.

In my research, I seek to show how deaf interpreters, sign language interpreters who are deaf, illuminate the concept of epistemic injustice. Deaf interpreters often work alongside hearing sign language interpreters and provide what is termed intralingual interpreting within the same target language. In other words, both the hearing interpreter and the deaf interpreter use the same national sign language, with the hearing interpreter interpreting between a spoken and sign language and the deaf interpreter making use of discursive and semiotic resources to convey meaning that extends beyond the hearing interpreter’s rendition. (However, some deaf interpreters, such as deaf Canadian American Sign Language-Langue des signes québécoise interpreters, also provide interlingual interpreting between different source and target languages.)

"LSQ" in Langue des signes québécoise, curtesy of Danachos CC BY-SA 4.0

The deaf interpreters’ role is often seen as meeting the needs of deaf individuals who lack proficiency in a named language—such as migrants, people with additional disabilities, and people who do not know a standard sign language. These deaf individuals are at greater risk of epistemic injustice due to not being seen—at least by hearing sign language interpreters and other professionals—as intelligible. From this perspective, intelligibility is based on knowing and using a standard, national language, such as the sign language varieties which are most often taught in interpreter training programs and which have their origins in deaf schools.

Interviews with Canadian deaf interpreter participants described formative experiences that were rooted in deaf childhoods where a sign language was readily accessible in addition to other languages, and where they encountered a broad range of deaf lives. However, as recent work by Haualand et al. (2024) shows, most deaf children today lack spaces where they can acquire and use sign language. Without early and full access to a language in which deaf children are understood, there is ironically both an increased need for deaf interpreter services and a lack of support for the conditions that foster underlying deaf interpreter competencies.

In their work, deaf interpreters fill gaps in interpreting processes and support understanding for hearing interpreters as well as for medical and legal professionals. This support in turn enables public institutional processes, such as medical appointments and court hearings, to run more efficiently. More fundamentally, deaf interpreters see intelligibility where it has been overlooked and construct intelligibility in interaction with diverse deaf people. This enacts justice on both an epistemic and existential level, since being understood opens the door to other forms of justice and new ways of being in the world.

 

 

Kristin Snoddon is Associate Professor with the School of Early Childhood Studies, Toronto Metropolitan University, Canada. Her current research focuses on sign language ideologies and ideologies of understanding related to deaf interpreters.