Title: Genetic Counselor Integration Enhancing Uptake of Genetic Testing in Hereditary Cancer Syndromes: A Retrospective Comparative Analysis (GENESIS Study)

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Abstract

Background Genetic testing is a cornerstone of precision medicine in hereditary cancer syndromes, yet uptake remains suboptimal, particularly in resource-limited settings. Barriers include a lack of awareness, limited access, and inadequate genetic counseling services. This study evaluated the impact of integrating a dedicated genetic counselor on genetic testing uptake at a tertiary cancer centre in India. Methods A retrospective comparative analysis was conducted at Mahamana Pandit Madanmohan Malaviya Cancer Centre (MPMMCC), Varanasi. Two six-month periods were examined: pre-integration (July–December 2024) and post-integration (January–June 2025) of a dedicated genetic counselor. Eligible patients referred for genetic evaluation were included. Uptake rates for both primary and cascade testing were compared. Results In the pre-integration phase, 239 individuals underwent genetic testing. Post-integration, this number rose to 339. Cascade testing among family members increased from 17 to 59, reflecting a significant improvement in both groups following counselor integration. Conclusions Integration of a dedicated genetic counselor substantially improved genetic testing uptake, with particularly pronounced gains in cascade testing. These findings highlight the critical role of genetic counsellors in enhancing access, facilitating informed decision-making, and optimizing the delivery of precision medicine in hereditary cancer care.

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