Researchers: Sari Lieberman^1,2, Rachel Michaelson-Cohen ^1,2, Shachar Zuckerman¹

Background: Genetic counseling (GC) facilitates communication about genetic contributions to health conditions. The COVID-19 pandemic prompted a rapid shift from in-person GC (IPGC) to telehealth-based GC (THGC).

Objectives: To evaluate the impact of THGC vs. IPGC on test uptake and psychosocial outcomes within the general population and the East-Jerusalem Arab sub-population.

Method: Retrospective arm: patients who received IPGC or THGC across three sub-types: oncogenetics, prenatal, and pre-implantation genetic testing, during 2020–2021. Prospective arm: Arab women referred for GC following abnormal Down syndrome screening results (05/2023–07/2024), randomized to THGC or IPGC. Participants completed web-based questionnaires post-counseling. Demographic and testing data were obtained from electronic medical records. Semi-structured interviews explored patient perspectives on THGC.

Findings: In the retrospective subset (n=580/2123), test uptake was higher following IPGC than THGC: oncogenetics(79.2% vs. 64.5%,p<0.001) and prenatal testing (49.7% vs. 29%,p=0.05). Satisfaction was high in both groups(>95%), with a preference for the mode experienced(p=0.001). Multivariate analysis showed IPGC predicted greater SWHD(p=0.05) and increased anxiety in oncogenetics (p=0.002). Higher knowledge scores (13-15/100 points) predicted by IPGC in oncogenetics and prenatal sub-types(p=0.003,=0.014).
In the prospective subset (n=153), scheduling IPGC correlated with a marginally higher likelihood of attending GC(p=0.071), and a borderline influence on willingness to undergo amniocentesis(p=0.061). Both groups preferred their respective experienced modes (p=0.001). Psychosocial outcomes and knowledge were comparable between groups. Interviews revealed cultural beliefs emphasizing acceptance of divine will and perceived irrelevance of GC for actionable decisions.

Conclusions: Although IPGC preferred, THGC demonstrates accepted psychosocial and knowledge outcomes, suggesting it is a reasonable alternative in Israel, especially in contexts requiring telehealth. Administrative, technical, cultural, and psychosocial barriers limit THGC effectiveness among the East-Jerusalem Arab population, necessitating tailored interventions to optimize implementation.

Recommendations: Adjustment in the GC process, remote connection and testing coordination in HMOs, genetics institutes and patients may improve THGC outcomes.

Research end date: 08/2025