Healthcare professionals' perspectives on expanding newborn genomic screening in the emirate of Abu Dhabi, United Arab Emirates: insights from a cross-sectional study.

内容摘要

Genomic Newborn Screening (gNBS) could transform neonatal healthcare by enabling early detection of genetic disorders, timely intervention, and improved health outcomes. This study assessed healthcare professionals' self-reported knowledge, attitudes, and challenges regarding expanded newborn genomic screening in Abu Dhabi, United Arab Emirates (UAE), and identified factors influencing its integration into neonatal healthcare. A cross-sectional survey was distributed to healthcare professionals across public and private facilities in Abu Dhabi, using random and snowball sampling. Data were analyzed using descriptive statistics, chi-square tests, and logistic regression to examine associations between gNBS self-reported knowledge, attitudes, and professional characteristics. About 46% (95% CI: 40%-52%) of professionals demonstrated good self-reported knowledge of gNBS, with significantly higher awareness among those experienced in newborn screening and tandem mass spectrometry. While 70% supported expanding gNBS, key barriers included cost, lack of screening guidelines, and ethical concerns such as genetic privacy and psychological distress for families. Most participants (85%) supported upskilling nurses and midwives for cord blood collection. Additionally, severe combined immunodeficiency (SCID), Duchenne muscular dystrophy (DMD), and spinal muscular atrophy (SMA) were essential conditions for inclusion in expanded gNBS programs. Healthcare professionals in Abu Dhabi recognize the potential of gNBS but also acknowledge key implementation challenges. Advancing implementation requires training, policy development, and ethical considerations. Future efforts should prioritize cost-effectiveness evaluations, regulatory frameworks, and stakeholder engagement to support sustainable and equitable gNBS implementation in the UAE.