View of healthcare professionals on ultra-rapid genome sequencing and its implementation in clinical routine for critically ill children

Abstract The clinical utility of ultra-rapid genome sequencing (urGS) in neonatal and paediatric intensive care situations has been demonstrated, and barriers to its implementation in clinical practice studied. We carried out the first study to identify the expectations of French healthcare professionals of the field. A 38 questions form was distributed via medical professional learned societies to these healthcare professionals. A hundred and sixteen responses were received: 35% from clinical geneticists, 19% from laboratory geneticists, and 32% from paediatric or neonatal intensivists. 97% respondents agreed that healthcare professionals should receive specific training before a first prescription. 94% of professionals considered urGS useful, and 97% that the result would likely modify a decision to withdraw life-sustaining treatment. A multidisciplinary validation of the urGS request was necessary for 87% of respondents, and multidisciplinary discussion of the result for 84%. Joint reporting of results by a clinical geneticist and NICU/PICU doctor was considered ideal for 91% of participants. 78% were against additional findings being reported at the same time as the result. For 99% of respondents, psychological assistance was crucial after the result. Based on our results, we propose a workflow to facilitate implementation in a maximum of centers.