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Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease
Molecular Genetics and Metabolism ( IF 3.8 ) Pub Date : 2021-09-15 , DOI: 10.1016/j.ymgme.2021.09.001
Laura Davids 1 , Yuxian Sun 2 , Reneé H Moore 3 , Emily Lisi 4 , Angela Wittenauer 1 , William R Wilcox 1 , Nadia Ali 1
Affiliation  

The addition of Pompe disease (PD) and other conditions with later-onset forms to newborn screening (NBS) in the United States (US) has been controversial. NBS technology cannot discern infantile-onset PD (IOPD) from later-onset PD (LOPD) without clinical follow-up. This study explores genetic health care practitioners’ (HCPs) experiences and challenges providing NBS patient care throughout the US and their resultant opinions on NBS for PD. An online survey was distributed to genetic counselors, geneticists, NBS follow-up care coordinators, and nurse practitioners caring for patients with positive NBS results for PD. Analysis of 78 surveys revealed the majority of participating HCPs support inclusion of PD on NBS. Almost all HCPs (93.3%) feel their state has sufficient resources to provide follow-up medical care for IOPD; however, only three-fourths (74.6%) believed this for LOPD. Common barriers included time lag between NBS and confirmatory results, insurance difficulties for laboratory testing, and family difficulties in seeking medical care. HCPs more frequently encountered barriers providing care for LOPD than IOPD (53.9% LOPD identified ≥3 barriers, 31.1% IOPD). HCPs also believe creation of a population of presymptomatic individuals with LOPD creates a psychological burden on the family (87.3% agree/strongly agree), unnecessary medicalization of the child (63.5% agree/strongly agree), and parental hypervigilance (68.3% agree/strongly agree). Opinions were markedly divided on the use of reproductive benefit as a justification for NBS. Participants believe additional education for pediatricians and other specialists would be beneficial in providing care for patients with both IOPD and LOPD, in addition to the creation of evidence-based official guidelines for care and supportive resources for families with LOPD.



中文翻译:

医疗保健从业者对庞贝病新生儿筛查呈阳性后提供护理的经验意见

在美国 (US) 新生儿筛查 (NBS) 中增加庞贝病 (PD) 和其他具有迟发形式的疾病一直存在争议。NBS 技术无法在没有临床随访的情况下区分婴儿期 PD (IOPD) 和迟发性 PD (LOPD)。本研究探讨了基因保健从业者 (HCP) 在美国各地为 NBS 患者提供护理的经验和挑战,以及他们对 NBS 治疗 PD 的最终意见。一项在线调查已分发给遗传咨询师、遗传学家、NBS 后续护理协调员和护理 NBS 结果阳性 PD 患者的执业护士。对 78 项调查的分析显示,大多数参与的 HCP 支持将 PD 纳入 NBS。几乎所有 HCP (93.3%) 都认为他们的州有足够的资源为 IOPD 提供后续医疗服务;然而,只有四分之三 (74.6%) 的人相信 LOPD。常见的障碍包括国家统计局和确认结果之间的时间滞后、实验室检测的保险困难以及家庭就医困难。与 IOPD 相比,HCP 更常遇到为 LOPD 提供护理的障碍(53.9% 的 LOPD 确定了 ≥3 个障碍,31.1% 的 IOPD)。HCPs 还认为,产生 LOPD 症状前个体群体会给家庭带来心理负担(87.3% 同意/强烈同意)、对孩子进行不必要的医疗(63​​.5% 同意/强烈同意)和父母过度警惕(68.3% 同意/强烈同意)非常同意)。对于使用生殖益处作为 NBS 的理由,意见存在明显分歧。

更新日期:2021-10-29
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