Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study.
Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study.
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DOI：
10.3389/fgene.2022.891592
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发表时间：
2022
影响因子：
3.7
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中科院分区：
文献类型：
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实施基于人口的DNA筛查的一个挑战是提供足够的信息，即可以理解和接受的信息，并支持知情决策。早期检查是一项扩展的新生儿筛查研究，提供给在北卡罗来纳州婴儿进行标准新生儿筛查的母亲/监护人。我们开发了电子教育和同意，以满足可行性，可接受性，可信度和支持知情决策的目标。我们使用了两种方法来评估早期检查的母亲参与婴儿谁收到正常的结果：通过电话进行的在线调查和访谈。调查和访谈领域包括入学的动机，材料和过程的可接受性，对筛选的态度，知识回忆和信任。定量分析包括描述性统计和评估与知识回忆和信任相关的因素。定性数据进行编码，并采用归纳法来确定采访的主题。调查受访者（n = 1，823）认为以下是招募婴儿的最重要原因：了解婴儿是否患有筛查疾病（43.0%），以及不需要额外的血液样本（20.1%）。访谈受访者（n = 24）报告的价值，早期知识，早期干预，并易于参与的激励因素。调查受访者认为研究信息对决策具有很高的实用性（平均4.7至4.8分），98.2%的受访者认为他们有足够的信息。知识回忆相对较高（71.8-92.5%正确），对早期检查信息的信任也较高（96.2%非常同意/同意）。对早期检查筛查的态度是积极的（在0-4的量表上平均为0.1至0.6，分数越低表示态度越积极），参与者不后悔参与（例如，98.6%的人强烈同意/同意提前检查是正确的决定）。受访者进一步报告了对早期检查材料和流程的积极态度。早期检查为大规模DNA筛查提供了教育和同意的模式。我们发现证据的高接受性，可信度和知识的回忆，和积极的态度受访者。以人口为目标的计划需要坚持为来自不同背景的人提供可访问信息的做法。对那些不选择筛查的人进行额外的研究，尽管在伦理和实践上具有挑战性，但对于告知基于人群的DNA筛查实践很重要。
A challenge in implementing population-based DNA screening is providing sufficient information, that is, understandable and acceptable, and that supports informed decision making. Early Check is an expanded newborn screening study offered to mothers/guardians whose infants have standard newborn screening in North Carolina. We developed electronic education and consent to meet the objectives of feasibility, acceptability, trustworthiness, and supporting informed decisions. We used two methods to evaluate Early Check among mothers of participating infants who received normal results: an online survey and interviews conducted via telephone. Survey and interview domains included motivations for enrollment, acceptability of materials and processes, attitudes toward screening, knowledge recall, and trust. Quantitative analyses included descriptive statistics and assessment of factors associated with knowledge recall and trust. Qualitative data were coded, and an inductive approach was used to identify themes across interviews. Survey respondents (n = 1,823) rated the following as the most important reasons for enrolling their infants: finding out if the baby has the conditions screened (43.0%), and that no additional blood samples were required (20.1%). Interview respondents (n = 24) reported the value of early knowledge, early intervention, and ease of participation as motivators. Survey respondents rated the study information as having high utility for decision making (mean 4.7 to 4.8 out of 5) and 98.2% agreed that they had sufficient information. Knowledge recall was relatively high (71.8–92.5% correct), as was trust in Early Check information (96.2% strongly agree/agree). Attitudes about Early Check screening were positive (mean 0.1 to 0.6 on a scale of 0–4, with lower scores indicating more positive attitudes) and participants did not regret participation (e.g., 98.6% strongly agreed/agreed Early Check was the right decision). Interview respondents further reported positive attitudes about Early Check materials and processes. Early Check provides a model for education and consent in large-scale DNA screening. We found evidence of high acceptability, trustworthiness and knowledge recall, and positive attitudes among respondents. Population-targeted programs need to uphold practices that result in accessible information for those from diverse backgrounds. Additional research on those who do not select screening, although ethically and practically challenging, is important to inform population-based DNA screening practices.