Data Sheet 2_Perspectives of parents receiving normal results from genomic newborn screening: a mixed-methods evaluation from the early check program.docx

As genomic technologies become increasingly practicable for public health application, research programs are exploring population-scale genomic newborn screening (gNBS). Early Check is a statewide newborn screening research program in North Carolina that offers optional whole genome sequencing-based screening to parents of newborns through an electronic education, consent, and return of results platform. Parents can elect to receive screening for over 200 monogenic conditions and risk for type 1 diabetes (T1D) using a genetic risk score (GRS). To address knowledge gaps in gNBS implementation, we conducted a concurrent mixed-methods study evaluating the feasibility, acceptability, and effectiveness of the program’s electronic education, consent, and return of results processes among participants who received normal screening results. We emailed the evaluation survey link to consenting parents of all participating newborns with screening results showing no increased risk identified (n = 3,496). Survey respondents could indicate their willingness to participate in an interview. A total of 279 surveys and 14 interviews were included for quantitative and qualitative analysis. Findings revealed high levels of satisfaction (94.8% positive attitude). Overall, levels of regret were low, with two-thirds of respondents reporting no regret and an additional quarter reporting mild regret. Nonetheless, the proportion reporting mild regret indicates that a meaningful subset experienced some degree of uncertainty or second thoughts. Additionally, there was generally moderate comprehension overall, with 60.9% of parents demonstrating adequate knowledge when assessed across key items. Parents’ frequently-endorsed motivators included learning about their baby’s future health, the study being free, and the study not requiring extra blood samples. Although most appreciated the convenience and clarity of the process, some requested more information on topics including genetic testing and T1D GRS. Parents reported limited use of the educational videos and laboratory-generated screening reports, but most viewed the lay summary of normal results. Despite this selective engagement, they described the overall experience as accessible and well-designed. Parents’ decisions to share results were primarily confined to family members, with fewer disclosures to healthcare providers. This study supports the feasibility and acceptability of large-scale electronic consent and return of results processes but highlights some challenges in comprehension and equity across diverse populations.

随着基因组技术在公共卫生应用中的可行性日益提升，各类研究项目正在探索人群规模的基因组新生儿筛查（genomic newborn screening, gNBS）。Early Check是北卡罗来纳州的一项全州范围新生儿筛查研究项目，通过电子教育、知情同意与结果反馈平台，向新生儿父母提供基于全基因组测序的可选筛查服务。父母可选择筛查超过200种单基因疾病，以及借助遗传风险评分（genetic risk score, GRS）评估1型糖尿病（type 1 diabetes, T1D）的发病风险。为填补基因组新生儿筛查实施中的知识空白，我们开展了一项同步混合方法研究，评估该项目的电子教育、知情同意与结果反馈流程在收到正常筛查结果的参与者中的可行性、接受度与有效性。我们向所有筛查结果未显示风险升高的参与新生儿的知情同意父母发送了评估问卷链接（n=3496）。问卷受访者可表明是否愿意参与访谈。最终共纳入279份问卷与14份访谈记录用于定量与定性分析。研究结果显示，参与者的满意度极高（94.8%持有积极态度）。总体而言，后悔程度较低，三分之二的受访者表示无后悔情绪，另有四分之一表示仅有轻微后悔。不过，轻微后悔的占比提示，有相当比例的参与者存在一定程度的不确定感或动摇。此外，整体认知水平中等，60.9%的父母在关键项目评估中展现出足够的知识储备。父母们普遍认可的参与动机包括：了解宝宝未来的健康状况、研究免费、无需额外采集血液样本。尽管多数参与者认可该流程的便捷性与清晰性，但部分人要求提供更多关于基因检测与1型糖尿病遗传风险评分的相关信息。父母们表示较少使用教育视频与实验室生成的筛查报告，但多数人查看了正常结果的通俗摘要。尽管参与度存在选择性，但他们整体认为该体验便捷且设计合理。父母们分享筛查结果的对象主要局限于家庭成员，向医疗保健提供者披露的情况较少。本研究证实了大规模电子知情同意与结果反馈流程的可行性与接受度，但也凸显了在多样化人群中认知与公平性方面存在的部分挑战。