Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing
Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing
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DOI：
10.1542/peds.2015-3731h
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发表时间：
2016-01-01
期刊：
影响因子：
8
通讯作者：
Koenig, Barbara A.
中科院分区：
文献类型：
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作者：
Joseph, Galen;Chen, Flavia;Koenig, Barbara A.
背景和目的：全基因组测序(WGS)在国家强制标准新生儿筛查(NBS)中的潜在应用挑战了对NBS的传统公共卫生方法，并提出了伦理、政策和临床实践问题。本文探讨了不同的健康孕妇和确诊为原发性免疫缺陷儿童的父母对传统NBS和利用WGS扩展的NBS的观点和价值。方法：我们对26名社会经济和种族不同的孕妇(n=26)进行了4个焦点小组(英语3个，西班牙语1个)，并与被诊断为原发性免疫缺陷障碍儿童的父母(n=5)进行了对照。结果：从我们对焦点组数据的分析中发现的儿科政策相关主题可分为4类：(1)对传统NBS的看法，(2)知情同意，(3)结果返回，以及(4)结果的存储和检索。分析表明，研究参与者希望更多地参与国家统计局的进程。尽管对NBS的基因组应用可能带来的潜在好处和有限的危害持乐观态度，但家长们表达了对隐私和对检测结果的控制的担忧。对医疗系统和国营NBS项目的有限信任导致了这些担忧。结论：为儿科医生扩大NBS和WGS可能需要管理更多的遗传条件，包括将成人发病疾病的风险传递给儿童和父母的突变，以及管理基因组数据和血斑存储的知情同意过程。为了有效地实施，需要关注不同人群对这些技术的理解。
BACKGROUND AND OBJECTIVE: The potential application of whole-genome sequencing (WGS) to state-mandated standard newborn screening (NBS) challenges the traditional public health approach to NBS and raises ethical, policy, and clinical practice issues. This article examines the perspectives and values of diverse healthy pregnant women and parents of children diagnosed with a primary immunodeficiency disorder about traditional NBS and expanded NBS with the use of WGS.METHODS: We conducted 4 focus groups (3 in English and 1 in Spanish) with socioeconomically and ethnically diverse pregnant women (n = 26), and a comparison group with parents of children diagnosed with a primary immunodeficiency disorder (n = 5).RESULTS: Pediatric policy-relevant themes that emerged from our analysis of the focus group data are presented within 4 categories: (1) perspectives on traditional NBS, (2) informed consent, (3) return of results, and (4) storage and retrieval of results. Analyses indicate that study participants desired greater inclusion in the NBS process. Despite an optimistic orientation to the potential benefits and limited harms likely to result from genomic applications of NBS, parents voiced concerns about privacy and control over test results. Limited trust in the medical system and the state-run NBS program informed these concerns.CONCLUSION: Expanded NBS with WGS for pediatricians may require management of more genetic conditions, including mutations that convey risk to both the child and parents for adult-onset disorders, and an informed-consent process to manage the genomic data and storage of blood spots. Attention to how these technologies are understood in diverse populations is needed for effective implementation.