North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Eur J Hum Genet. 2020 Nov;28(11):1529-1540. doi: 10.1038/s41431-020-0667-z. Epub 2020 Jun 19.
Rapid genomic sequencing (RGS) is increasingly being used in the care of critically ill children. Here we describe a qualitative study exploring parent and professional perspectives around the usefulness of this test, the potential for unintended harms and the challenges for delivering a wider clinical service. The Rapid Paediatric Sequencing (RaPS) study offered trio RGS for diagnosis of critically ill children with a likely monogenic disorder. Main and actionable secondary findings were reported. Semi-structured interviews were conducted with parents of children offered RGS (n = 11) and professionals (genetic clinicians, non-genetic clinicians, scientists and consenters) (n = 19) by telephone (parents n = 10/professionals n = 1) or face-to-face (parents n = 1/professionals n = 18). We found that participants held largely positive views about RGS, describing clinical and emotional benefits from the opportunity to obtain a rapid diagnosis. Parental stress surrounding their child's illness complicates decision making. Parental concerns are heightened when offered RGS and while waiting for results. The importance of multidisciplinary team working to enable efficient delivery of a rapid service was emphasised. Our findings give insight into the perceived value of RGS for critically ill children. Careful pre-test counselling is needed to support informed parental decision making. Many parents would benefit from additional support while waiting for results. Education of mainstream clinicians is required to facilitate clinical implementation.
快速基因组测序（RGS）在危重病儿童的治疗中越来越多地被应用。在这里，我们描述了一项定性研究，探讨了家长和专业人员对该测试的有用性、潜在的意外伤害以及提供更广泛临床服务的挑战的看法。快速儿科测序（RaPS）研究为患有可能单基因疾病的危重病儿童提供了 trioRGS 检测。主要和可操作的次要发现都有报道。通过电话（家长 10 名/专业人员 1 名）或面对面（家长 1 名/专业人员 18 名）的方式对接受 RGS 的儿童的家长（n=11）和专业人员（遗传临床医生、非遗传临床医生、科学家和同意者）（n=19）进行了半结构化访谈。我们发现，参与者对 RGS 持有基本的积极看法，描述了从快速诊断机会中获得的临床和情感上的好处。患儿疾病周围的父母压力使决策复杂化。当提供 RGS 并等待结果时，父母的担忧会加剧。强调了多学科团队合作对提供快速服务的效率的重要性。我们的研究结果深入了解了 RGS 对危重病儿童的感知价值。需要仔细的预测试咨询来支持父母知情决策。许多父母在等待结果时需要额外的支持。需要对主流临床医生进行教育，以促进临床实施。
