Nicholls Stuart G, Wilson Brenda J, Etchegary Holly, Brehaut Jamie C, Potter Beth K, Hayeems Robin, Chakraborty Pranesh, Milburn Jennifer, Pullman Daryl, Turner Lesley, Carroll June C
Department of Epidemiology & Community Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Clinical Epidemiology, Memorial University, St John's, Newfoundland and Labrador, Canada.
Per Med. 2014 Aug;11(6):593-607. doi: 10.2217/pme.14.46.
In this article we review the literature regarding the public understanding of the potential benefits and burdens of expanded newborn bloodspot screening. We draw attention to broadened notions of benefit that go beyond early identification of asymptomatic individuals and interventions to reduce morbidity or mortality, and include benefits gained by families through knowledge that may facilitate life choices, as well as gains generated by avoiding diagnostic delays. We also reflect on burdens such as increasing false-positive results and parental anxiety, together with risks of overdiagnosis when the natural history of a condition is poorly understood. We conclude that expanded notions of benefit and burden bring with them implications for parental consent and confidentiality and the secondary use of bloodspots.
在本文中，我们回顾了有关公众对扩大新生儿血斑筛查潜在益处和负担的理解的文献。我们提请注意，益处的概念已得到扩展，不再局限于早期识别无症状个体以及采取干预措施以降低发病率或死亡率，还包括家庭通过可能有助于做出生活选择的知识所获得的益处，以及避免诊断延迟所带来的收获。我们还思考了诸如假阳性结果增加和父母焦虑等负担，以及在对某种疾病的自然史了解不足时过度诊断的风险。我们得出结论，益处和负担概念的扩展对父母同意、保密以及血斑的二次使用都有影响。
