Hurdles in the personalized medicine implementation path: public’s literacy and misconceptions of whole genomic sequencing test

Abstract

Numerous efforts worldwide are geared towards integrating whole genome sequencing (WGS) tests into diagnostic clinical practice. However, in many countries, awareness and perception towards WGS among the consumer public is unexamined. This cross-sectional study disseminated a validated survey online to the public across the UAE using a convenience sampling technique. The survey evaluated socio-demographics, knowledge, and attitudes towards whole genome sequencing. A logistic regression analysis was conducted to explore the potential predictors of the study outcomes. While the public’s knowledge was optimal towards genetics and WGS in this study, critical knowledge gaps were identified, particularly in females and youth populations. A lack of literacy regarding disease gene carrier status and genomic composition was noted. Additionally, there were misconceptions about the function of genome parts and that all effects of DNA variants on diseases had been identified through WGS. Perception of WGS was favorable. However, the majority were concerned about unanticipated test findings and the test results’ impact on employment and insurance eligibility. We argue that misconceptions about genomics, and lack of awareness of the test’s advantages and limitations might lead to misguided healthcare choices. Additionally, gauging public sentiment towards WGS is essential, especially when contemplating its societal consequences and its associated unexpected findings.

Keywords

• Personalized medicine
• whole genome sequencing
• knowledge
• attitude
• public