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ItemRapid acute care genomics: Challenges and opportunitiesLynch, Fiona Jacqueline ( 2021)Genomic technologies are showing great promise in the neonatal and paediatric acute care setting, with rapid genomic sequencing (rGS) facilitating results delivery within days. The use of rGS presents both novel genetic counselling issues and a unique impact on families. Although there is substantial enthusiasm surrounding this new application of genomics, it is important that implementation remains evidence-based and patient-centred. This research therefore aimed to understand current practice and perspectives in this setting as technology progresses. Qualitative, semi-structured interviews were conducted with 30 parents whose children had rGS in acute care, and 16 genetic counsellors (GCs) and four intensivists working in this setting. Interviews were audio-recorded, transcribed and analysed using a combination of content and thematic analysis. GCs identified practical challenges of counselling within a rapid turnaround time, including the lack of preparation time, less time to see families, and challenges of practicing outside of the traditional ‘9 to 5’ workday of genetic health professionals. However, they also saw similarities with genetic counselling in other contexts (such as the prenatal setting and the introduction of previous technologies). GCs also described the challenges of multidisciplinary teamwork in this setting, highlighting a need for education and training of other acute care health professionals and the role GCs may play in this. While some parents had a range of concerns and described deliberating about their decision, others readily consented to rGS and were resistant to pre-test counselling. Participants felt they were lucky to be offered special access to exciting, expensive and cutting-edge research, and valued the rapidity of the test, irrespective of the diagnostic outcome. However, factors putting pressure on parents to consent were evident in their descriptions of decision making for rGS. Interviews with intensivists and follow-up interviews with GCs who had greater experience in the delivery of rGS revealed the evolution of multidisciplinary practice in acute care. While there were initial challenges, both disciplines appeared to be benefiting from interdisciplinary learning, facilitating the movement towards truly integrated practice. Intensivists and GCs were working together to support parents’ informed decision making about rGS. Irrespective of the outcome of rGS, participants reported that families need post-test support for a variety of reasons. This study demonstrated maturation in the delivery of rGS over recent years and provided insight into the future delivery of genomic medicine in acute care. Practices reported around decision making are still putting pressure on parents to consent to rGS. Finally, a wider range of post-test needs were reported by health professionals compared to families undergoing rGS, making all perspectives essential for informing service delivery. While interviews revealed unique considerations for the delivery of rGS in acute care, there are existing areas of practice, theories and skills that can be drawn on to inform practice in this setting. The use of genomic technologies will continue to increase over time, therefore patient-centred care for families undergoing rGS will require ongoing investigation into their experiences and the changes in practice.