‘What is the result?’ Using facet methodology to explore the construction of results from genomic data

Thesis

Genomic tests distil ‘results’ from the 4.1-5 million variants each person has in their genome. A proportion of these variants will be linked to disease, but their clinical significance will fluctuate with respect to multiple parameters. What then is the nature of a ‘genomic result’, and how should we seek to arrive at it?

I used facet methodology to analyse how genomic results were evinced in: stock images; UK news items; an archive of writing about everyday life; NHS clinical genetics appointments; interviews with people experiencing genomic tests; and through various engagementoriented activities. My aim was to integrate how genomic results appeared in different arenas, bringing together empirical data and ethical analysis to generate ‘flashes of insight’ as to their nature and the processes by which they are determined.

I found that popular discourses tend to portray genomic results akin to ‘hidden gems’- potentially hard to find, but valuable and qualitatively different to the variants surrounding them. In clinical settings, they often seemed to have a different nature- nebulous, provisional, but animate and evolving. They grew through discussion and collaboration, and might be re-interpreted in different settings and for different purposes. The challenge was not so much ‘finding’ them, as determining what- if anything- they meant. Yet ‘hidden gem’ ideas often seemed to sculpt conversations around genomic results, limiting the ways in which we can discuss them, and representing only a fraction of what they are.

I argue we should aim for wider concepts of genomic results, positioning ‘hidden gems’ as the tip of an iceberg. Under the surface lie a variety of complex and sometimes challenging or dissatisfying experiences. The editing out of these experiences from popular discourse undermines abilities to have fruitful debates about when and how to use genomics to improve population health. It also creates an environment where consent conversations struggle to prepare people for subtle or underwhelming outcomes from genomic tests, and adds to the isolation of those who experience these in the context of rare disease diagnosis.

I conclude that a genomic result is more than a proven or likely connection between a variant and a disease. Hundreds of variants in any person’s genome could fulfil this definition- in appraising them as being a ‘result’ we are making choices to do so. If we could recognise and centre these choices, acknowledging genomic results as created, rather than simply uncovered, it might allow more constructive clinical and societal conversations around how, whether, when and why we should value particular genomic variation(s) as being ‘results’.

Authors: Horton, RH

• DOI: 10.5287/ora-mqa6bnxrm
• Type of award: DPhil
• Level of award: Doctoral
• Awarding institution: University of Oxford
• Language: English
• Keywords: clinical genetics; facet methodology; clinical genomics; screening; genetic testing
• Subjects: Clinical medicine; Genetic disorders; Genetic screening