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阿拉伯联合酋长国阿布扎比父母对扩大新生儿基因组筛查的看法。

Parents' perspectives on expanded newborn genomic screening in Abu Dhabi, United Arab Emirates.

作者信息

Elhadi Yasir Ahmed Mohammed, Alkatheeri Marwa, Alktifan Maryam, Alhammadi Fatma, Sultan Taif, Alqumboz Yousef M Abu, Jihad Ahmed, Shaidul M Islam, Al Saadi Mohammed, Alkaabi Meera Saeed Nhayah, Almaamari Khalid, Alseiari Khalifa, Alshamsi Naser, Alzaabi Omar, Al Tamimi Saoud, Alameri Mohamed Salem, Masuadi Emad, Rahma Azhar T

机构信息

Institute of Public Health, College of Medicine and Health Sciences, United Arab Emirates University, Al An, 15551, United Arab Emirates.

Department of Health, Abu Dhabi, 20224, United Arab Emirates.

出版信息

Hum Genomics. 2025 Jun 6;19(1):63. doi: 10.1186/s40246-025-00766-1.

DOI:10.1186/s40246-025-00766-1

PMID:40481610

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12144800/

Abstract

BACKGROUND

Newborn genomic screening offers the potential for early detection and management of genetic disorders. Understanding parental perspectives is essential before integrating genomic testing into standard newborn screening.

METHODS

This was a descriptive cross-sectional study surveyed 568 parents in Abu Dhabi, United Arab Emirates (UAE). An online self-administered validated and piloted questionnaire was used to gather information on demographic characteristic and perspectives regarding newborn genomic screening. Data were analysed using R version 4.4.3.

RESULTS

Most parents (78.2%) supported integrating genomics into newborn screening programs, with 63.5% stating it requires distinct management from standard screening. Females preferred geneticists (38.2% vs. 32.5%, p < 0.001) and hospitals (45.1% vs. 39.2%, p < 0.001) for discussions, with 74.2% emphasizing explicit consent compared to 68.5% of males (p < 0.002). Treatability (82.7%), age of symptom onset (74.1%), and severity (72.2%) were key decision-making factors. Additionally, 66.7% preferred genomic testing to be covered by insurance, and 82.2% supported storing genomic data for future use.

CONCLUSION

Parents participated in the study strongly support genomic newborn screening. Gender-based differences emphasize the need for tailored communication and culturally sensitive strategies to inform policy development and implementation of newborn genomic screening program in the UAE and similar contexts.

摘要

背景

新生儿基因组筛查为遗传疾病的早期检测和管理提供了可能性。在将基因组检测纳入标准新生儿筛查之前，了解父母的观点至关重要。

方法

这是一项描述性横断面研究，对阿拉伯联合酋长国阿布扎比的568名父母进行了调查。使用一份经过验证和预试验的在线自填问卷来收集有关人口统计学特征以及对新生儿基因组筛查的看法的信息。使用R版本4.4.3对数据进行分析。

结果

大多数父母（78.2%）支持将基因组学纳入新生儿筛查项目，63.5%的父母表示这需要与标准筛查进行不同的管理。女性在讨论时更倾向于选择遗传学家（38.2%对32.5%，p<0.001）和医院（45.1%对39.2%，p<0.001），74.2%的女性强调明确同意，而男性为68.5%（p<0.002）。可治疗性（82.7%）、症状出现年龄（74.1%）和严重程度（72.2%）是关键的决策因素。此外，66.7%的父母希望基因组检测由保险覆盖，82.2%的父母支持存储基因组数据以供将来使用。