TY - JOUR
T1 - Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening
AU - Yaron, Yuval
AU - Ofen Glassner, Vered
AU - Berkenstadt, Michal
AU - Goldstein, Nurit
AU - Reznik Wolf, Haike
AU - Ries Levavi, Liat
AU - Abo Gutstein, Liat
AU - Furman, Yael
AU - Anouchi, Mori
AU - Delmar, Galit
AU - Behar, Doron M.
AU - Pras, Elon
AU - Reches, Adi
AU - Kurolap, Alina
AU - Baris Feldman, Hagit
N1 - Publisher Copyright:
© The Author(s) 2025.
PY - 2025/12
Y1 - 2025/12
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/105001270564
U2 - 10.1038/s41746-025-01573-7
DO - 10.1038/s41746-025-01573-7
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C2 - 40158019
AN - SCOPUS:105001270564
SN - 2398-6352
VL - 8
JO - npj Digital Medicine
JF - npj Digital Medicine
IS - 1
M1 - 183
ER -