Australian Genomics Health Alliance, Melbourne, VIC, Australia.
Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.
Eur J Hum Genet. 2022 Nov;30(11):1276-1282. doi: 10.1038/s41431-022-01168-w. Epub 2022 Aug 11.
The delivery of rapid genomic sequencing (rGS) to critically unwell children in intensive care occurs at a time of immense pressure and stress for parents. Contact with families after result disclosure, particularly after hospital discharge, presents an opportunity to meet their psychological, medical and information needs as they evolve. This study explores the preferences and perspectives of health professionals and parents of genetics follow up after rGS. Semi-structured interviews were conducted with 30 parents, seven genetic counsellors (GCs) and four intensive care physicians with experience in rGS. Transcripts were analysed using reflexive thematic analysis. Current practices surrounding genetics follow up after rGS were highly variable, resulting in some families not receiving the ongoing care they needed. Reasons identified by families for wanting follow-up care represented only a subset of those identified by health professionals. While GCs routinely provided their details to allow parents to initiate further contact, this was not always sufficient for follow-up care. Health professionals identified both organisational and psychosocial barriers to conducting follow up. As rGS transforms the diagnostic pathway in rare disease, there is a need for a co-designed, standardised but flexible model for follow-up care with genetics professionals so that families' evolving needs are met.
快速基因组测序（rGS）在重症监护病房中用于病情危急的儿童时，父母面临着巨大的压力和紧张。在结果披露后与家庭联系，特别是在出院后，为满足他们的心理、医疗和信息需求提供了机会，因为这些需求在不断发展。本研究探讨了 rGS 后遗传学随访中卫生专业人员和家长的偏好和观点。对 30 名家长、7 名遗传咨询师（GC）和 4 名有 rGS 经验的重症监护医生进行了半结构化访谈。使用反思性主题分析对转录本进行了分析。目前 rGS 后遗传学随访的实践差异很大，导致一些家庭没有得到他们所需的持续护理。家庭希望获得后续护理的原因仅代表卫生专业人员确定的一部分原因。虽然 GC 通常会提供他们的详细信息，以便父母可以进一步联系，但这并不总是足以进行后续护理。卫生专业人员确定了进行随访的组织和心理社会障碍。随着 rGS 改变了罕见病的诊断途径，需要与遗传专业人员共同设计、标准化但灵活的随访护理模式，以满足家庭不断发展的需求。
