Suckiel Sabrina A, Linderman Michael D, Sanderson Saskia C, Diaz George A, Wasserstein Melissa, Kasarskis Andrew, Schadt Eric E, Zinberg Randi E
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, USA.
Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
J Genet Couns. 2016 Oct;25(5):1044-53. doi: 10.1007/s10897-016-9935-z. Epub 2016 Feb 22.
Personal genome sequencing is increasingly utilized by healthy individuals for predispositional screening and other applications. However, little is known about the impact of 'genomic counseling' on informed decision-making in this context. Our primary aim was to compare measures of participants' informed decision-making before and after genomic counseling in the HealthSeq project, a longitudinal cohort study of individuals receiving personal results from whole genome sequencing (WGS). Our secondary aims were to assess the impact of the counseling on WGS knowledge and concerns, and to explore participants' satisfaction with the counseling. Questionnaires were administered to participants (n = 35) before and after their pre-test genomic counseling appointment. Informed decision-making was measured using the Decisional Conflict Scale (DCS) and the Satisfaction with Decision Scale (SDS). DCS scores decreased after genomic counseling (mean: 11.34 before vs. 5.94 after; z = -4.34, p < 0.001, r = 0.52), and SDS scores increased (mean: 27.91 vs. 29.06 respectively; z = 2.91, p = 0.004, r = 0.35). Satisfaction with counseling was high (mean (SD) = 26.91 (2.68), on a scale where 6 = low and 30 = high satisfaction). HealthSeq participants felt that their decision regarding receiving personal results from WGS was more informed after genomic counseling. Further research comparing the impact of different genomic counseling models is needed.
健康个体越来越多地利用个人基因组测序进行易感性筛查和其他应用。然而，在这种情况下，关于“基因组咨询”对知情决策的影响却知之甚少。我们的主要目的是在HealthSeq项目中比较基因组咨询前后参与者知情决策的指标，该项目是一项对接受全基因组测序（WGS）个人结果的个体进行的纵向队列研究。我们的次要目的是评估咨询对WGS知识和担忧的影响，并探讨参与者对咨询的满意度。在参与者进行预测试基因组咨询预约之前和之后，对他们（n = 35）进行问卷调查。使用决策冲突量表（DCS）和决策满意度量表（SDS）来衡量知情决策。基因组咨询后，DCS得分降低（均值：之前为11.34，之后为5.94；z = -4.34，p < 0.001，r = 0.52），SDS得分升高（均值：分别为27.91和29.06；z = 2.91，p = 0.004，r = 0.35）。对咨询的满意度很高（均值（标准差）= 26.91（2.68），量表范围为6 = 低满意度，30 = 高满意度）。HealthSeq项目的参与者认为，在进行基因组咨询后，他们对于接受WGS个人结果的决定更加明智。需要进一步研究比较不同基因组咨询模式的影响。
