Gold Nina B, Omorodion Jacklyn O, Del Rosario Maya C, Rivera-Cruz Greysha, Hsu Celeste Y, Ziniel Sonja I, Holm Ingrid A
Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
J Genet Couns. 2025 Apr;34(2):e1994. doi: 10.1002/jgc4.1994. Epub 2024 Oct 28.
Genomic sequencing has been proposed as a strategy to expand newborn screening. Perspectives on genomic newborn screening from parents of diverse racial, ethnic, and socioeconomic backgrounds are needed to shape equitable implementation of this modality. We conducted 20 semi-structured interviews (15 English, 5 Spanish) and seven focus groups (4 English, 3 Spanish) with parents from diverse backgrounds to assess their perspectives regarding which disorders and variants might be screened, data privacy, and barriers to pursuing specialized care. Parents felt that genomic newborn screening would provide them with improved understanding of their children's health and had the potential to yield health and personal benefits. Themes that became evident included: interest in childhood and family health risks, the value of emotional preparation and personal planning, understanding of uncertain and low-risk results, concerns regarding data privacy, and concerns about support following the receipt of a positive newborn screening result. The expected benefits and concerns expressed by parents of diverse backgrounds regarding genomic newborn screening should guide future policy decisions. Their preferences should be considered prior to the implementation of large-scale genomic newborn screening programs.
基因组测序已被提议作为扩大新生儿筛查的一种策略。需要了解不同种族、族裔和社会经济背景的父母对基因组新生儿筛查的看法，以推动这种筛查方式的公平实施。我们对来自不同背景的父母进行了20次半结构化访谈（15次用英语，5次用西班牙语）和7次焦点小组讨论（4次用英语，3次用西班牙语），以评估他们对可能筛查哪些疾病和变异、数据隐私以及寻求专科护理的障碍的看法。父母们认为，基因组新生儿筛查将使他们更好地了解孩子的健康状况，并有可能带来健康和个人益处。明显出现的主题包括：对儿童期和家庭健康风险的关注、心理准备和个人规划的价值、对不确定和低风险结果的理解、对数据隐私的担忧，以及对新生儿筛查结果呈阳性后获得支持的担忧。不同背景的父母对基因组新生儿筛查表达的预期益处和担忧应指导未来的政策决策。在实施大规模基因组新生儿筛查项目之前，应考虑他们的偏好。
