What does a consent conversation for whole genome sequencing look like in the NHS Genomic Medicine Service? An observational study.

Abstract

Patient choice consent for whole genome sequencing (WGS) through the Genomic Medicine Service in England covers consent to diagnostic testing and an invitation to the National Genomic Research Library (NGRL). Little is known about what consent conversations for WGS look like in practice. We audio-recorded and analysed the content and structure of consent appointments (n = 26) between healthcare professionals (HCPs) and parents of children with rare disease across seven NHS Trusts. Appointments frequently covered the potential findings from testing, implications for family members, and DNA storage, but often omitted that data may be reanalysed in the future if a diagnosis is not made. Consent to the NGRL was typically sought during the same appointment; these discussions varied in content, but frequently included a background to the NGRL and data security. HCPs often tempered expectations around what WGS can achieve and asked questions to clarify parents' understanding, but less commonly elicited parents' values and concerns. Administrative tasks were time-consuming, but took less time when consent was recorded digitally. Future training should emphasise how to elicit patients' values and concerns. Digital infrastructure and hiring roles such as genomic associates to support consent may be important strategies to meet the workload demands of WGS.