Parental perception of Genomic Newborn Screening (GNBS) in a Malaysian tertiary paediatric setting

Abstract

Genomic newborn screening (gNBS) is an emerging approach that offers the potential for early identification of genetic conditions beyond those detected through conventional newborn screening. However, evidence regarding parental perceptions on gNBS in Malaysia remains limited. This study aimed to assess parental perspectives, attitudes and acceptance of gNBS and to identify factors associated with willingness to support its implementation. A quantitative cross-sectional survey was conducted among 429 parents attending the paediatric outpatient clinics at Hospital Tunku Ampuan Besar Tuanku Aishah Rohani (Hospital TABTAR). Participants completed a structured self- administered questionnaire following provision of information regarding newborn screening and gNBS. Awareness of gNBS was low, with only 21.0% of parents reporting prior awareness. Nevertheless, most parents supported the implementation of gNBS (74.6%). The most commonly perceived benefits were early and effective treatment (88.1%), timely genetic diagnosis (82.3%) and provision of comprehensive health information (78.3%). Key concerns included anxiety regarding a child's future health (79.5%), financial costs (74.1%) and misinterpretation of genetic results (64.1%). Cost of testing and treatment (86.9%), diseases included in screening (75.4%) and treatment availability (71.9%) were the main factors influencing parental decision- making. Multivariable analysis identified belief in the treatability of genetic diseases (aOR = 1.98, 95% CI: 1.03-3.80, p = 0.039) as the only independent factor associated with support for gNBS. These findings suggest that Malaysian parents are generally receptive towards gNBS despite limited awareness, highlighting the need public education, genetic counselling resources, appropriate governance frameworks to support its implementation.