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413 Perceptions and Concerns: Navigating Genetic Research Participation Among At-Risk Individuals for Inherited Conditions

Published online by Cambridge University Press:  03 April 2024

Elinette M. Albino
Affiliation:
University of Puerto Rico, Medical Sciences Campus
Polaris Gonzalez-Barrios
Affiliation:
Department of Psychiatry, University of Puerto Rico, Medical Sciences Campus, San Juan, PR
Paola Guisti-Rodriguez
Affiliation:
Department of Psychiatry, University of Florida College of Medicine, Gainesville, FL
Noelia De Sevilla-Saez
Affiliation:
Department of Psychiatry, University of Florida College of Medicine, Gainesville, FL
Karen G. Martinez
Affiliation:
Department of Psychiatry, University of Puerto Rico, Medical Sciences Campus, San Juan, PR
Carmen Buxo
Affiliation:
University of Puerto Rico, Medical Sciences Campus, School of Dental Medicine, Dental and Craniofacial Genomics Core, San Juan, PR
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Abstract

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OBJECTIVES/GOALS: Motivations and hesitations about participating in genetic research among those at risk of inherited conditions are unclear. We aim to understand perceptions, perspectives, and concerns of these individuals regarding genetic research studies, especially for hard-to-diagnose diseases. METHODS/STUDY POPULATION: Mix method study of 150 Hispanics individuals in Puerto Rico (PR) at risk for in heriting a condition. These individuals, with limited diagnostic data, are attending genetics clinics or invited to a genetics study at the University of Puerto Rico Medical Sciences Campus. Structured surveys and interviews will be conducted. Surveys will gauge general perceptions and feelings toward genetic research, while interviews will provide a deeper understanding of participants’ personal narratives and experiences. All sessions will be recorded, transcribed, and analyzed using NVivo qualitative analysis software. Thematic analysis will be employed to identify recurring themes and sentiments. RESULTS/ANTICIPATED RESULTS: Weanticipatevaried responses: some enthusiastic about genetic research benefits, others having reservations due to privacy, cultural beliefs, or past experiences. A significant portion may express concerns about genetic research’s impact on insurance and potential discrimination. We also expect to uncover systemic challenges that hinder participation among Hispanics living in PR, such as a lack of information or misconceptions about genetic research. This study will overview factors, both encouraging and inhibitory, influencing decisions to join genetic research. Quantitative genetic literacy survey data will undergo descriptive analysis and multivariate logistic regression. DISCUSSION/SIGNIFICANCE: Hispanics in PR exhibit a rich tapestry of genetic variations being a focal point for genetic research. Understanding perceptions is vital among those at risk for inherited conditions. Insights can shape outreach and education strategies, ensuring participants are informed, concerns met, and empowered to make decisions alignined their views.

Type
Precision Medicine/Health
Creative Commons
Creative Common License - CCCreative Common License - BYCreative Common License - NCCreative Common License - ND
This is an Open Access article, distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is unaltered and is properly cited. The written permission of Cambridge University Press must be obtained for commercial re-use or in order to create a derivative work.
Copyright
© The Author(s), 2024. The Association for Clinical and Translational Science