Shaping language used in genomics

Sometimes, patient partners can take the initiative and share their ideas proactively, for the benefit of the wider genomics community.

One example of this was the Participant Panel at Genomics England, a group of research participant representatives, who recognised that some of the language they were hearing from genomics professionals sat uncomfortably with their lived experience, as it was reinforcing negative stereotypes about disability and genetics. They got together and discussed examples from their own experience, where they wished people had used different terminology to describe their lives and their health conditions. With the financial backing of Genomics England, whilst retaining editorial control, they drew upon those experiences to draft and publish a short Language and Terminology Guide (2022).

Key guidance includes:

• When thinking about communicating with patients and research participants, treat everyone as you would like to be treated
• Think about who is in your audience, and use appropriately accessible formats and language
• Respect everyone equally, regardless of how they got involved in genomics (patient, family member, professional, etc.)
• Recognise that patients and families do not always choose to define themselves or their relatives by the health conditions that brought them here: genomics research is just one aspect of their lives
• Although clinicians talking to colleagues will use scientific language amongst themselves, they should be aware that increasingly their notes are shared with patients, so they should be mindful of the impact that scientific language may have in other contexts
• Everyone should avoid using value-laden terms: use objective descriptions of patient symptoms and diagnoses, rather than assuming someone is ‘suffering’, ‘devastated’, or indeed ‘inspirational’
• When writing information for patients and parents, talk to people directly affected or living with a condition, and include some positive experiences where possible
• Recognise that acceptable uses of language evolve over time; keep refreshing your understanding of acceptable language by regularly seeking input from people with lived experience of the conditions that you are working on

The guide also includes tables with preferred terminology to use when discussing genomics and disability – you can find these on pages 6 and 7. The whole downloadable guide in the PDF format is attached at the bottom of this step below.

This guide has been very well received across the genomics workforce, in the UK and beyond. Thousands of physical copies have been distributed at many industry events and the digital version is still available on the Participant Panel website.

Typical feedback includes statements from senior clinicians such as:

“I speak to my patients differently now that I’ve read this”.

Dr Francesca Faravelli, consultant clinical geneticist, who was at the time Director of the North Thames regional genomic medicine service (England, UK).

Discussion

Share some thoughts on this step – do you have any further advice for our learners about the use of appropriate language with patients and their families, from your own experience?