Joan H. Marks Graduate Program in Human Genetics, Sarah Lawrence College, Bronxville, NY, USA.
Department of Psychiatry, University of British Columbia, Vancouver, Canada.
Eur J Hum Genet. 2020 Jul;28(7):907-914. doi: 10.1038/s41431-020-0592-1. Epub 2020 Feb 17.
Little data currently exist regarding whether and how different characteristics of a patient and session influence outcomes of genetic counseling (GC). We conducted an exploratory retrospective chart review of data from a specialist psychiatric GC clinic (where patients complete the Genetic Counseling Outcome Scale (GCOS) as part of routine care before and after GC). We used ANOVA and linear regression to analyze GCOS change scores in relation to twelve patient/session-related variables. Three hundred and seven charts were included in analyses. Overall, GCOS scores increased significantly after GC, with large effect size (p < 0.0005, d = 1.10), and significant increases in all GCOS subdomains except adaptation. Significant associations with GCOS change score were identified for three variables: mode of delivery of GC (in-person/telephone/telehealth, p = 0.048, η = 0.020), primary indication for the appointment (understanding recurrence risk versus other primary indications, p = 0.001, η = 0.037), and baseline GCOS score (p < 0.000, R = 0.353). Our data showing that those with low baseline GCOS scores benefit most from GC could be used to explore the possibility of triaging those referred for GC based on this variable, and/or to identify individuals to refer to GC.
目前关于患者和就诊的不同特征是否以及如何影响遗传咨询（GC）的结果，相关数据还很少。我们对一家精神科遗传咨询专科诊所（患者在接受遗传咨询前后会作为常规护理完成遗传咨询结果量表（GCOS））的数据进行了探索性回顾性图表审查。我们使用方差分析和线性回归分析了 12 个与患者/就诊相关的变量与 GCOS 变化分数之间的关系。共纳入 307 份图表进行分析。总体而言，GC 后 GCOS 评分显著增加，具有较大的效应量（p<0.0005，d=1.10），除适应度外，所有 GCOS 子领域的评分均显著增加。与 GCOS 变化分数有显著关联的三个变量是：GC 的传递方式（面对面/电话/远程医疗，p=0.048，η=0.020）、就诊的主要指征（了解复发风险与其他主要指征，p=0.001，η=0.037）和基线 GCOS 评分（p<0.000，R=0.353）。我们的数据表明，那些基线 GCOS 评分较低的人从 GC 中受益最大，可以用来探索根据这一变量对接受 GC 咨询的人进行分诊的可能性，以及/或确定需要转介给 GC 的人。
