Understanding and issues related to next-generation sequencing among educated laypersons in India

Abstract

Next Generation Sequencing (NGS) is being widely used for preconception carrier screening of couples, newborn screening, and personalized and preventive treatments, although its knowledge is still limited in laypersons. In this study, we have assessed the understanding, attitudes, and concerns related to NGS in 103 educated laypersons in India. The study participants were contacted by a combination of methods, including offline and online platforms. An information sheet was provided to them detailing the basics of DNA and the use of NGS in identifying genetic disorders with the possible types of results. Those participants who answered all the questions were included in the study. The participants in this study demonstrated a good general understanding of the information sheet (80.3% average correct response). We also observed that the majority wished to know the results of secondary findings related to actionable and unactionable conditions. Most of them wanted to sequence all their genes in their body, given a chance, and they had a general willingness to share the results with their relatives. The majority also felt that they would be better prepared mentally if they had a genetic diagnosis and would take necessary health measures as directed by their physician. About half of them felt that knowing the result may cause them distress. About half of them also wished to undergo prenatal testing based on an uncertain result, which stresses the need for better education about the limitations of NGS.