The Actionability of Exome sequencing testing results

Abstract Genomic tests such as exome sequencing have recently become an option for diagnosing patients. The tests allow clinical geneticists to sequence the majority of patients’ disease causing genetic variants. As a new technology, exome sequencing confronts the question of what the benefit is of this increased genetic information. Against a narrow perspective of clinical utility that emphasises tangible improvements in a patient's disease management, professional organisations have argued that genomic sequencing should be considered beneficial if it helps families and society. Based on video‐recorded observations of the return of exome sequencing results to parents of a child with disabilities in the clinic and in‐depth interviews with these parents, we examine how genomic test results become actionable in the clinical encounter. We find that parents and clinicians marshal exome results beyond biomedical diagnostic and management goals to address questions about guilt for causing the disabilities and to secure access to disability‐related services. We argue that genomic actionability rests on the interaction between the biological characteristics of genetic results and the predicaments facing parents of children with disabilities.
Source: Sociology of Health and Illness - Category: International Medicine & Public Health Authors: Tags: Original Article Source Type: research