Using technology to increase reach and optimize consent experience for a large-scale research program.

The consent process for research studies can be burdensome for potential participants due to complex information and lengthy consent forms. This pragmatic study aimed to improve the consent experience and evaluate its impact on participant decision making, study knowledge, and satisfaction with the In Our DNA SC program, a population-based genomic screening initiative. We compared two consent procedures: standard consent (SC) involving a PDF document and enhanced consent (EC) incorporating a pictograph and true or false questions.

Development of the Dissemination and Implementation Science Collaborative (DISC): Opportunities to enhance implementation science capacity among researchers and practitioners in South Carolina.

This paper explores the development of the Dissemination and Implementation Science Collaborative (DISC) at the Medical University of South Carolina, established through the Clinical and Translational Science Award program. DISC aims to accelerate clinical and translational science by providing training, mentorship, and collaboration opportunities in dissemination and implementation (D&I) science. Through DISC, investigators, trainees, and community partners are equipped with the knowledge and skills to conduct D&I research and translate findings into practice, particularly in South Carolina's public health and healthcare landscape.

Chatbot for the Return of Positive Genetic Screening Results for Hereditary Cancer Syndromes: a Prompt Engineering Study.

Background: The growing demand for genomic testing and limited access to experts necessitate innovative service models. While chatbots have shown promise in supporting genomic services like pre-test counseling, their use in returning positive genetic results, especially using the more recent large language models (LLMs) remains unexplored.

Objective: This study reports the prompt engineering process and intrinsic evaluation of the LLM component of a chatbot designed to support returning positive population-wide genomic screening results.

Establishing an infrastructure to optimize the integration of genomics into research: Results from a precision health needs assessment.

Researchers across the translational research continuum have emphasized the importance of integrating genomics into their research program. To date capacity and resources for genomics research have been limited; however, a recent population-wide genomic screening initiative launched at the Medical University of South Carolina in partnership with Helix has rapidly advanced the need to develop appropriate infrastructure for genomics research at our institution. We conducted a survey with researchers from across our institution (n = 36) to assess current knowledge about genomics health, barriers, and facilitators to uptake, and next steps to support translational research using genomics.

Implementation Mapping for Managing Patients at High Risk for Hereditary Cancer.

Introduction: Currently, no standard workflow exists for managing patients with pathogenic variants that put them at higher risk for hereditary cancers. Therefore, follow-up care for individuals with pathogenic variants is logistically challenging and results in poor guideline adherence. To address this challenge, authors created clinical management strategies for individuals identified at high risk for hereditary cancers.