Lahiri Sayoni, Mersch Jacqueline, Zimmerman John, Mauer Hall Caitlin, Moriarty Kelsey, Gemmell Amber, Lee MinJae, Clark Cheyla, Luong Michelle, Stokes Caroline, Romano Kathryn, James Cynthia A, Pirzadeh-Miller Sara
Simmons Comprehensive Cancer Center, UT Southwestern Medical Center, Dallas, Texas, USA.
Division of Cardiology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
J Genet Couns. 2025 Apr;34(2):e1975. doi: 10.1002/jgc4.1975. Epub 2024 Oct 7.
This randomized controlled trial compares outcomes of telephone versus in-person genetic counseling service models in underserved, bilingual patient populations referred for cancer genetic counseling. Between 2022 and 2023, a two-arm (telephone vs. in-person genetic counseling) prospective, randomized controlled study with 201 participants was conducted at two county hospital cancer genetics clinics. Primary outcomes included comparison of pre- and post-genetic counseling genetics knowledge (Multi-dimensional Model of Informed Choice, MMIC), genetic counseling visit satisfaction (Genetic Counseling Satisfaction Scale, GCSS), and genetic counseling visit completion rates. Secondary outcomes included comparison of genetic testing attitudes and informed choice (MMIC), genetic counseling-specific empowerment (Genomic Outcomes Scale, GOS), and genetic testing completion and cancellation/failure rates, using linear regression models (significance ≤0.05). There were no statistically significant differences between arms in pre/post-genetic counseling MMIC knowledge and attitude, GOS or GCSS scores or genetic counseling completion. While more participants in the telephone versus in-person arm made an informed choice about testing (52.5% v. 39.0%, p = 0.0552), test completion was lower (74% v. 100%, p < 0.05) for this group. Genetic counseling completion rates and MMIC knowledge and attitude, GOS, and GCSS scores suggest telephone genetic counseling is comparable to in-person genetic counseling for underserved populations. Higher informed choice scores and significantly lower testing completion rates for telephone visits require further study.
这项随机对照试验比较了电话遗传咨询服务模式与面对面遗传咨询服务模式在被转介进行癌症遗传咨询的服务不足的双语患者群体中的效果。2022年至2023年期间，在两家县医院癌症遗传学诊所开展了一项双臂（电话遗传咨询与面对面遗传咨询）前瞻性随机对照研究，共有201名参与者。主要结果包括比较遗传咨询前后的遗传学知识（知情选择多维模型，MMIC）、遗传咨询就诊满意度（遗传咨询满意度量表，GCSS）以及遗传咨询就诊完成率。次要结果包括使用线性回归模型（显著性≤0.05）比较基因检测态度和知情选择（MMIC）、遗传咨询特定的赋权（基因组结果量表，GOS）以及基因检测完成率和取消/未完成率。在遗传咨询前后的MMIC知识和态度、GOS或GCSS评分以及遗传咨询完成情况方面，两组之间没有统计学上的显著差异。虽然电话咨询组与面对面咨询组相比，更多参与者对检测做出了知情选择（52.5%对39.0%，p = 0.0552），但该组的检测完成率较低（74%对100%，p < 0.05）。遗传咨询完成率以及MMIC知识和态度、GOS和GCSS评分表明，电话遗传咨询对于服务不足的人群与面对面遗传咨询相当。电话咨询较高的知情选择得分和显著较低的检测完成率需要进一步研究。
