NHS 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. 2022 May;30(5):604-610. doi: 10.1038/s41431-022-01065-2. Epub 2022 Mar 9.
In this mixed methods study, a survey and in-depth interviews were used to explore whether decision regret and the psychological impact of receiving genome sequencing (GS) results differed between parents and patients, and between those who received a genetic diagnosis and those who did not. Participants (n = 77) completed a survey that included the Decisional Regret Scale (DRS) and an adaptation of the Multidimensional Impact of Cancer Risk Assessment (MICRA) at least 12 months after consenting for GS for rare disease diagnosis in the 100,000 Genomes Project. Survey participants were invited to take part in an interview and 39 agreed; 12 with a diagnosis, 5 with variants of uncertain significance, and 19 with no pathogenic findings identified. Both survey and interview findings indicated that decision regret was low. DRS scores revealed no differences in levels of regret between parents and patients, or between those with a diagnosis and those without. Though MICRA scores indicated minimal evidence of negative psychological impacts of receiving GS results, subscale analysis revealed greater distress and uncertainty for parents compared to patients. Receiving a diagnosis was found not to influence MICRA scores, supporting interview findings of both positive and negative emotional and psychological impacts irrespective of a genetic diagnosis. Our findings have implications for policy and practice as GS is integrated into the UK and worldwide; notably, that expectation-setting is critical when offering GS, and that post-test counselling is important regardless of the GS result received, with parents perhaps needing additional emotional support.
在这项混合方法研究中，我们采用了调查和深入访谈的方法，旨在探讨在接受基因组测序（GS）结果时，父母和患者之间以及接受和未接受遗传诊断的患者之间，决策后悔和心理影响是否存在差异。参与者（n=77）在同意参与英国 10 万基因组计划（100,000 Genomes Project）中进行罕见病诊断的 GS 检测至少 12 个月后，完成了包括决策后悔量表（DRS）和癌症风险评估多维影响（MICRA）改编版在内的调查。调查参与者被邀请参加访谈，其中 39 人同意；12 人有诊断结果，5 人有不确定意义的变异，19 人未发现致病性发现。调查和访谈结果均表明，决策后悔程度较低。DRS 评分显示，父母和患者之间、有诊断和无诊断患者之间的后悔水平没有差异。尽管 MICRA 评分表明接受 GS 结果对心理的负面影响较小，但子量表分析显示，与患者相比，父母的痛苦和不确定性更大。研究发现，诊断结果并不会影响 MICRA 评分，这支持了访谈结果，即无论是否有遗传诊断，接受 GS 检测都会带来积极和消极的情绪和心理影响。我们的研究结果对政策和实践具有重要意义，因为 GS 正在被整合到英国和全球的医疗体系中；尤其是在提供 GS 时，期望设定至关重要，并且无论接受的 GS 结果如何，测试后咨询都很重要，父母可能需要额外的情感支持。
