PDF(Pubmed)
Abstract：
UNASSIGNED: Newborn genetic screening (NBGS) based on next-generation sequencing offers enhanced disease detection and better detection rates than traditional newborn screening. However, challenges remain, especially around reporting the NBGS carrier results. Therefore, we aimed to investigate the NBGS carrier parents\' views on NBGS and NBGS reports in China.
UNASSIGNED: We distributed a survey querying demographic information, knowledge and perceptions of NBGS, the impact of NBGS on a total of 2930 parents, and their decision-making to parents of newborns reported as carriers in NBGS in Nanjing, China in 2022.
UNASSIGNED: The average age of the survey respondents was 30.7 years (standard deviation = 3.6). Most (68.38%) felt informed about NBGS, especially women, the highly educated, and high earners. Nearly all (98.74%) saw NBGS as crucial for early disease detection, with 73.18% believing it positively impacts their future. However, 19.16% felt it might cause anxiety, especially among the less educated. Concerns included potential discrimination due to exposed genetic data and strained family ties. Many suggested NBGS coverage by medical insurance to ease financial burdens.
UNASSIGNED: Through our study, we gained insights into parents\' perspectives and concerns regarding the NBGS carrier result reporting, thus providing relevant information for further refinement and clinical promotion of the NBGS project.
UNASSIGNED: We distributed a survey querying demographic information, knowledge and perceptions of NBGS, the impact of NBGS on a total of 2930 parents, and their decision-making to parents of newborns reported as carriers in NBGS in Nanjing, China in 2022.
UNASSIGNED: The average age of the survey respondents was 30.7 years (standard deviation = 3.6). Most (68.38%) felt informed about NBGS, especially women, the highly educated, and high earners. Nearly all (98.74%) saw NBGS as crucial for early disease detection, with 73.18% believing it positively impacts their future. However, 19.16% felt it might cause anxiety, especially among the less educated. Concerns included potential discrimination due to exposed genetic data and strained family ties. Many suggested NBGS coverage by medical insurance to ease financial burdens.
UNASSIGNED: Through our study, we gained insights into parents\' perspectives and concerns regarding the NBGS carrier result reporting, thus providing relevant information for further refinement and clinical promotion of the NBGS project.
摘要：
基于下一代测序的新生儿基因筛查（NBGS）提供了比传统新生儿筛查更高的疾病检测和更高的检测率。然而,挑战依然存在,特别是在报告NBGS运营商结果周围。因此,我们的目的是调查NBGS运营商父母对中国NBGS和NBGS报告的看法。
■我们分发了一份查询人口统计信息的调查，对NBGS的知识和感知，NBGS对2930名父母的影响，以及他们对南京NBGS中报告为携带者的新生儿父母的决策，2022年中国。
■调查对象的平均年龄为30.7岁（标准差=3.6）。大多数人（68.38％）感到了解NBGS，尤其是女性,受过高等教育的人，高收入者。几乎所有人（98.74％）认为NBGS对于早期疾病检测至关重要，73.18%的人认为这会对他们的未来产生积极影响。然而,19.16%的人认为这可能会引起焦虑，尤其是在受教育程度较低的人群中。担忧包括由于暴露的遗传数据和紧张的家庭关系而导致的潜在歧视。许多人建议通过医疗保险覆盖NBGS以减轻经济负担。
■通过我们的研究，我们深入了解了父母对NBGS运营商结果报告的看法和担忧，从而为NBGS项目的进一步细化和临床推广提供相关信息。
■我们分发了一份查询人口统计信息的调查，对NBGS的知识和感知，NBGS对2930名父母的影响，以及他们对南京NBGS中报告为携带者的新生儿父母的决策，2022年中国。
■调查对象的平均年龄为30.7岁（标准差=3.6）。大多数人（68.38％）感到了解NBGS，尤其是女性,受过高等教育的人，高收入者。几乎所有人（98.74％）认为NBGS对于早期疾病检测至关重要，73.18%的人认为这会对他们的未来产生积极影响。然而,19.16%的人认为这可能会引起焦虑，尤其是在受教育程度较低的人群中。担忧包括由于暴露的遗传数据和紧张的家庭关系而导致的潜在歧视。许多人建议通过医疗保险覆盖NBGS以减轻经济负担。
■通过我们的研究，我们深入了解了父母对NBGS运营商结果报告的看法和担忧，从而为NBGS项目的进一步细化和临床推广提供相关信息。
