Supplementary Material for: Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing

Objective: The aim of this study was to explore the parental views, attitudes, and preferences of expanded newborn screening (NBS) through genomic sequencing. Study Design: We conducted a semi-structured interview study with English and Spanish speaking mothers who had given birth within the USA in the past 5 years. The interviews explored opinions of expanding NBS, ethical and privacy concerns, and educational and social needs. Results: All participants were interested in some degree of NBS expansion. However, there were differing opinions about the characteristics of conditions that should be included with less consensus for conditions with low penetrance, those without approved treatment, or onset outside of early childhood. All parents endorsed potential medical utility but also nonmedical utility as a motivating factor including being able to prepare and not being surprised by health issues as they occurred. Most felt that it was important to have some choice about the conditions screened, and many expressed the importance of proper education to make an informed choice and a desire to receive this education in the prenatal period. Responses to the type of education and information needed to make an informed decision varied. Conclusions: Parents anticipate value in expanded NBS through genomic sequencing both for medical and nonmedical/personal utility. In order to successfully implement expanded NBS, prospective parents need more and earlier education about the process. These needs may differ by language and culture. Information needs to be easily accessible and to be curated by appropriate experts and stakeholders, including parents representative of the diversity of the USA.

研究目的：本研究旨在探讨通过基因组测序（genomic sequencing）开展扩展型新生儿筛查（Newborn Screening, NBS）时，家长的观点、态度与偏好。
研究设计：本研究采用半结构化访谈（semi-structured interview）法，调研对象为过去5年内于美国境内分娩、使用英语或西班牙语的母亲。访谈内容涵盖扩展新生儿筛查的相关看法、伦理与隐私顾虑，以及教育与社会需求。
研究结果：所有受访家长均对不同程度的新生儿筛查扩展抱有兴趣，但针对筛查疾病的特征存在分歧；对于外显率较低、无获批治疗方案或发病于儿童早期之外的疾病，共识度较低。所有家长均认可该筛查的潜在医学价值，同时也将非医学用途视为推动筛查扩展的动因，例如能够提前做好准备、在健康问题出现时无需措手不及。多数家长认为，针对筛查疾病类型拥有一定选择权至关重要，多数受访者还强调，获取充分教育以做出知情选择十分重要，并希望能在产前阶段获得此类教育。关于做出知情决策所需的教育与信息类型，受访者的反馈存在差异。
研究结论：家长认为通过基因组测序开展的扩展型新生儿筛查，在医学与非医学/个人用途层面均具备价值。为顺利推进扩展型新生儿筛查的落地，准父母需要更早、更全面地了解该筛查流程。此类需求可能因语言与文化背景而异。相关信息需便于获取，并应由合适的专家与利益相关方（包括能代表美国多元群体的家长代表）进行整理编纂。