Sarah Lawrence College, Joan H. Marks Graduate Program in Human Genetics, Bronxville, New York, USA.
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
J Genet Couns. 2022 Oct;31(5):1148-1154. doi: 10.1002/jgc4.1585. Epub 2022 Apr 28.
To our knowledge, no studies have yet evaluated whether genetic counseling (GC) outcomes are influenced by the timing of the counseling session in relation to the onset or diagnosis of the condition of interest. We conducted an exploratory retrospective chart review using a database from a psychiatric GC (pGC) clinic, to examine the relationship between GC outcomes and time elapsed between: (a) onset of psychiatric symptoms (time since onset, TSO) and/or (b) psychiatric diagnosis (time since diagnosis, TSD), and the pGC session. Linear regression was used to assess the relationship between change in Genetic Counseling Outcome Scale (GCOS) scores from pre-GC to 1 month post-GC and TSO and/or TSD. Charts of 271 patients (80% women, mean age = 39.9 years old) seen between 2012 and 2018 were included in the analyses. Mean TSO = 19.6 years (range 0-62 years), and mean TSD = 11.1 years (range 0-43 years). Overall, empowerment increased after GC regardless of TSO/TSD (p < 0.0001, d = 1.11). While there was no relationship between GCOS change and TSD, a negative relationship was observed for TSO (p = .032) suggesting better outcomes with shorter TSO, although the effect size was very small (f = 0.019). Post hoc analysis revealed this effect was driven by two diagnoses, depression (n = 164, p = 0.013) and schizoaffective disorder (n = 6, p = 0.042). For the former, the effect size was very small (f = 0.038) and for the latter, the probability of type 2 error was high. In sum, our data suggest that TSO/TSD plays a negligible role in outcomes of pGC, with patients benefitting from pGC, regardless how long ago symptoms started/diagnosis was made.
据我们所知，目前尚无研究评估遗传咨询（GC）的结果是否受到咨询时间与所关注疾病的发病或诊断之间关系的影响。我们使用精神病学 GC（pGC）诊所的数据库进行了一项探索性回顾性图表审查，以检查 GC 结果与以下两个时间之间的关系：(a) 精神症状发病（发病时间，TSO）和/或 (b) 精神诊断（诊断时间，TSD），以及 pGC 咨询之间的关系。线性回归用于评估遗传咨询结果量表（GCOS）评分从 GC 前到 GC 后 1 个月的变化与 TSO 和/或 TSD 之间的关系。共纳入 2012 年至 2018 年间就诊的 271 名患者（80%为女性，平均年龄为 39.9 岁）的图表进行分析。平均 TSO=19.6 年（范围 0-62 年），平均 TSD=11.1 年（范围 0-43 年）。总体而言，无论 TSO/TSD 如何，GC 后赋能都会增加（p<0.0001，d=1.11）。虽然 GCOS 变化与 TSD 之间没有关系，但 TSO 呈负相关（p=0.032），这表明 TSO 越短，结果越好，尽管效应量很小（f=0.019）。事后分析表明，这种效应是由两个诊断驱动的，即抑郁症（n=164，p=0.013）和分裂情感性障碍（n=6，p=0.042）。对于前者，效应量很小（f=0.038），对于后者，二类错误的概率很高。总的来说，我们的数据表明，TSO/TSD 在 pGC 的结果中作用可以忽略不计，无论症状开始/诊断多久，患者都能从 pGC 中受益。
