Doll Elena Sophia, Mahal Julia, Alex Karla, Lerch Seraina Petra, Kölker Stefan, Schaaf Christian P, Winkler Eva C, Ditzen Beate
Ruprecht-Karls University Heidelberg, Heidelberg, Germany.
Institute of Medical Psychology, Heidelberg University Hospital, Heidelberg, Germany.
J Genet Couns. 2025 Jun;34(3):e70004. doi: 10.1002/jgc4.70004.
The advancement of genome sequencing technology and its potential application in newborn screening is being discussed in various countries. Genomic newborn screening (gNBS) can provide parents with information about their child's genetic susceptibility for known disorders. However, it also presents ethical and psychosocial challenges. This study was carried out with a view toward the possible introduction of gNBS in Germany. Due to the existing challenges, it is crucial to understand different perspectives of relevant groups in Germany before implementing gNBS. Four online focus groups were conducted with parents, patient representatives, and healthcare professionals to explore perceived opportunities and challenges, as well as needs regarding a potential gNBS program. Discussions with altogether 24 participants were semi-structured using a pre-defined interview guide. Sessions were audio-visually recorded and transcripts were analyzed using a structuring qualitative content analysis combining both deductive and inductive methods. Participants expressed positive views about gNBS but also reservations about a gNBS program and posed requirements for operating conditions. One salient theme that emerged was hope for certainty through gNBS in the face of numerous uncertainties. The study complements the perspective of patient representatives, providing further insight into the subject matter. This is a valuable contribution as they possess a comprehensive understanding of the medical, psychological, and ethical considerations involved. Patient representatives placed particular emphasis on the advantages of avoiding a diagnostic odyssey and the significance of support systems. The results provide first insights into different views on gNBS in Germany. These views can inform the potential preparation of a gNBS program in Germany, particularly with regard to information and consent requirements. Implications for practice, such as informing and educating parents about gNBS during pregnancy, can be derived from the study.
各国正在讨论基因组测序技术的进展及其在新生儿筛查中的潜在应用。基因组新生儿筛查（gNBS）可以为父母提供有关其孩子对已知疾病的遗传易感性的信息。然而，它也带来了伦理和社会心理挑战。本研究旨在探讨在德国引入gNBS的可能性。由于存在这些挑战，在实施gNBS之前了解德国相关群体的不同观点至关重要。我们与父母、患者代表和医疗保健专业人员进行了四个在线焦点小组讨论，以探讨他们所感知到的机遇和挑战，以及对潜在的gNBS计划的需求。使用预先定义的访谈指南对总共24名参与者进行了半结构化讨论。会议进行了视听记录，并使用结合了演绎和归纳方法的结构化定性内容分析对文字记录进行了分析。参与者对gNBS表达了积极的看法，但也对gNBS计划有所保留，并对操作条件提出了要求。出现的一个突出主题是，面对众多不确定性，希望通过gNBS获得确定性。该研究补充了患者代表的观点，为该主题提供了进一步的见解。这是一项有价值的贡献，因为他们对所涉及的医学、心理和伦理考量有着全面的理解。患者代表特别强调了避免诊断过程漫长曲折的好处以及支持系统的重要性。研究结果首次揭示了德国对gNBS的不同看法。这些观点可为德国gNBS计划的潜在准备工作提供参考，特别是在信息和同意要求方面。该研究还可以得出对实践的启示，例如在孕期向父母介绍和教育gNBS相关信息。
