‘What is my result?’ Bioethical and clinical perspectives on the navigation process from raw genomic data to genomic results. (360G-Wellcome-218092_A_19_Z)

My research will investigate how patients, clinicians and scientists navigate the outputs from genomic technologies. Today’s technologies have great power to diagnose, but provide far more information than previous targeted testing could. Genomic tests identify around 100,000 rare genetic variants per person, but the clinical significance of these variants will fluctuate with respect to multiple parameters including: the current state of scientific knowledge; the person’s age; their medical and family history; their genetic background; and environmental exposures. I will examine how, why, and when scientists, clinicians and patients conceptualise variants from genomic data as clinical results. I will adopt an empirical ethics approach drawing on grounded moral analysis. I will observe clinic appointments to examine how outputs from genomic tests are described in practice. I will interview patients and families having genomic tests, and conduct focus groups with clinicians and scientists who request, provide, or communicate outcomes from genomic tests. I aim to elicit perspectives on the nature of genomic results, and the processes by which they are constructed. Current debates and policy development often focus on ‘management’ of genomic results; my research will contribute by questioning what genomic results should be, and how they might be arrived at.