Knowledge, Attitude, and Concerns related to Next Generation Sequencing in General Population in India: A Pilot Study

Abstract

Abstract Next Generation Sequencing (NGS) technology is being widely used for preconception carrier screening of couples with or without family history of a genetic disorder, newborn screening, and for personalized and preventive treatments although its knowledge is still limited in general population and health care workers. In this pilot study, we have assessed the knowledge, attitude and concerns related to next generation sequencing in the general population in India. The present prospective cross-sectional survey was performed between June 2022 and September 2022. The predesigned semi structures questionnaire was used to collect the data. A total of 103 apparently healthy individuals completed the questionnaires related to basic understanding assessment, personal utility, information sharing with family members, concerns surrounding NGS and positive impact. The participants in this study demonstrated relatively good general understanding of the information sheet (78% average correct response). We also observed that the majority wished to know the results of secondary findings for treatable conditions, untreatable conditions and also variants of uncertain significance. The public also wanted to sequence all the genes in their body, given a chance, and based on the results- carrier status, drug response, or susceptibility to various conditions, plan of action would be decided. They had a general willingness to share the results with their relatives. About half of them also wished to undergo prenatal testing based on the VUS result.