National Newborn Screening and Genetics Resource Center, Austin, Texas, USA.
Genet Med. 2011 Jul;13(7):621-4. doi: 10.1097/GIM.0b013e3182147639.
Newborn screening programs are state based with variable policies. Guidance regarding the retention, storage, and use of portions of newborn screening dried blood spots that remain after screening (residual specimens) was first published in 1996. Since then, newborn screening programs have paid increased attention to specimen storage and usage issues. Standard residual specimen uses include quality assurance and program evaluation, treatment efficacy, test refinement, and result verification. In all cases, privacy and security are primary concerns. In general, two distinct state practices regarding the storage and use of residual newborn screening specimens exist: (1) short-term storage (<3 years), primarily for standard program uses and (2) long-term storage (>18 years), for standard program uses and possible important public health research uses. Recently, there have been concerns in some consumer communities regarding both the potential uses of residual specimens and patient (newborn and family) privacy. To assist in policy improvements that can protect the individual's privacy and allow for important public health uses of residual newborn screening specimens, the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children has developed recommendations (with requested action by the Secretary where applicable). This report presents the Committee's recommendations and reviews the pertinent associated issues.
新生儿筛查计划是基于州的，政策各不相同。1996 年首次发布了关于保留、存储和使用筛查后剩余的新生儿筛查干血斑部分（剩余标本）的指南。此后，新生儿筛查计划越来越关注标本存储和使用问题。标准的剩余标本用途包括质量保证和计划评估、治疗效果、测试改进和结果验证。在所有情况下，隐私和安全都是首要关注点。一般来说，关于剩余新生儿筛查标本的存储和使用，存在两种不同的州实践：（1）短期存储（<3 年），主要用于标准计划用途，（2）长期存储（>18 年），用于标准计划用途和可能的重要公共卫生研究用途。最近，一些消费者群体对剩余标本的潜在用途以及患者（新生儿及其家庭）的隐私表示担忧。为了协助制定政策改进措施，既能保护个人隐私，又能允许对剩余新生儿筛查标本进行重要的公共卫生用途，卫生与公众服务部遗传性新生儿和儿童疾病咨询委员会制定了建议（并要求秘书在适用的情况下采取行动）。本报告介绍了委员会的建议，并审查了相关的问题。
