Yaron Yuval, Ofen Glassner Vered, Berkenstadt Michal, Goldstein Nurit, Reznik Wolf Haike, Ries Levavi Liat, Abo Gutstein Liat, Furman Yael, Anouchi Mori, Delmar Galit, Behar Doron M, Pras Elon, Reches Adi, Kurolap Alina, Baris Feldman Hagit
The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Department of Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
NPJ Digit Med. 2025 Mar 29;8(1):183. doi: 10.1038/s41746-025-01573-7.
Rapid growth in genetic testing usage resulted in declining availability of genetic counselors (GCs) per ordered tests, prolonging the waiting times for face-to-face (F2F) counseling. We evaluated the digital genetic assistant (DGA) for reproductive genetic carrier screening (RGCS) in a real-life clinical setting using a "couple-based" paradigm. The platform provides digital patient intake and automated counseling for low-risk individuals, as well as GC-facing tools that reduce administrative burden in patient-related activities. Among 225 couples undergoing RGCS during the study period, 4% had high-risk results requiring F2F counseling and an additional 4% of low-risk couples requested F2F counseling, suggesting that DGA use reduced GC-participant F2F interactions by 69.3%. GC evaluations revealed that the DGA triaging algorithm was accurate and surveys demonstrated high degrees of user comprehension and satisfaction. These results highlight the utility of digital platforms for patient intake and delivery of low-risk results in settings with limited genetic counseling resources.
基因检测使用量的快速增长导致每次订购检测的遗传咨询师（GC）可获得性下降，延长了面对面（F2F）咨询的等待时间。我们在现实临床环境中使用“基于夫妇”的范式评估了用于生殖遗传携带者筛查（RGCS）的数字遗传助手（DGA）。该平台为低风险个体提供数字患者接待和自动咨询，以及面向遗传咨询师的工具，可减轻与患者相关活动中的管理负担。在研究期间接受RGCS的225对夫妇中，4%有高风险结果需要面对面咨询，另有4%的低风险夫妇要求面对面咨询，这表明使用DGA使遗传咨询师与参与者的面对面互动减少了69.3%。遗传咨询师的评估表明，DGA分类算法是准确的，调查显示用户理解度和满意度很高。这些结果突出了数字平台在遗传咨询资源有限的环境中用于患者接待和低风险结果传递的效用。
