Tag: clinical genomics

Liz Worthey to Moderate Session at ASHG 2025

Dr. Liz Worthey of CGDS will serve as a moderator for “The Utility of AI in Clinical Genomics Workflows” (Session 75) at the 2025 American Society of Human Genetics (ASHG) Annual Meeting on October 17, 10:45–11:45 AM, in Ballroom West, Level 3.

The session will examine the growing role of artificial intelligence in clinical genomics, including its use in literature summarization, variant prioritization, and diagnostic decision support. Experts from leading institutions will discuss both the power and the current limits of AI-driven approaches in real-world clinical settings. Attendees will leave with a clearer understanding of how these tools complement, rather than replace, human interpretation in genomics workflows.

CGDS Publishes on Caregiver Perspectives in Prader-Willi Syndrome Pharmacogenomics

Researchers at CGDS, in collaboration with FPWR, have published a study exploring caregiver interest in pharmacogenomic (PGx) testing for children with Prader-Willi syndrome (PWS). The study surveyed caregivers before returning PGx results, aiming to understand their expectations and planned use of this information in clinical care.

Among the 48 caregivers surveyed, 93.8% expressed strong interest in their child’s PGx results. Nearly all respondents (97.9%) intended to share the findings with medical providers, yet fewer than half (47.9%) felt confident that those providers would use the results. The findings highlight the enthusiasm among caregivers and the perceived gap in provider readiness to act on PGx data, signaling a need for increased education and support around clinical implementation.

Read the full study in Pharmacogenomics: Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization.