Bush Lynn W, Levy Harvey L
Department of Medicine, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Center for Bioethics, Harvard Medical School, Boston, MA 02115, USA.
Int J Neonatal Screen. 2024 Feb 6;10(1):12. doi: 10.3390/ijns10010012.
We look to the past as prologue for guidance in predicting and circumventing potential psychosocial-ethical challenges, including those that may influence the attachment process for some parents. We consider the evolution of bioethics and developmental psychology as they intersect with newborn screening while exploring potential implications of positive findings, be they false positives, true positives, or secondary as well as incidental findings. We reflect on navigating the complex landscape that may be significantly impacted by variable phenotypes, the age of onset, and uncertain prognoses, mindful of the diagnostic odyssey . We explore select facets of ethical and psychological challenges encountered with positive newborn screening findings by highlighting enduring debates to improve the policy process in public health and medicine. We believe substantive empirical research is needed, including long-term follow-up, routine prenatal assessment of tolerance for uncertainties, and especially innovative methodologies to better evaluate potential psychological distress that may be present in some at-risk individuals during the perinatal period preceding and following reports of positive findings. Mitigation strategies building on lessons learned from NBS and clinical follow-up should be implemented and studied. We conclude by pondering why we remain far afield from providing these services. Research directed towards understanding the implications of positive NBS findings will further reduce the burdens on families and care providers alike and should lead to improved communication.
我们回顾过去，将其作为预测和规避潜在心理社会伦理挑战（包括那些可能影响部分父母依恋过程的挑战）的指导序言。在探索阳性结果（无论是假阳性、真阳性，还是次要及偶然发现）的潜在影响时，我们考量生物伦理学和发展心理学与新生儿筛查的交叉点。我们思考如何应对可能因可变表型、发病年龄和不确定预后而受到显著影响的复杂局面，同时铭记诊断历程。我们通过突出长期存在的争议来探讨新生儿筛查阳性结果所带来的伦理和心理挑战的某些方面，以改进公共卫生和医学领域的政策制定过程。我们认为需要进行实质性的实证研究，包括长期随访、对不确定性耐受性的常规产前评估，尤其是采用创新方法，以更好地评估在阳性结果报告前后的围产期，一些高危个体可能存在的潜在心理困扰。应实施并研究基于新生儿筛查和临床随访经验教训的缓解策略。我们通过思考为何我们在提供这些服务方面仍相差甚远来得出结论。旨在理解新生儿筛查阳性结果影响的研究将进一步减轻家庭和护理人员的负担，并应有助于改善沟通。
