Ethical and Psychosocial Implications of Genomic Newborn Screening.
Ethical and Psychosocial Implications of Genomic Newborn Screening.
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DOI：
10.3390/ijns7010002
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发表时间：
2021-01-09
影响因子：
3.5
通讯作者：
Levy HL
中科院分区：
文献类型：
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作者：
Levy HL
新生儿基因组筛查的潜力，特别是将基因组筛查添加到当前的新生儿筛查（NBS）中，引发了非常重要的伦理问题。无论这种类型的NBS是包括整个基因组，还是只包括基因组的编码区（外显子组筛选），甚至是对特定基因进行测序，所引发的伦理问题都将是巨大的。这些问题包括：在致病性和准确预后方面，对已查明变异的生物信息学解释存在局限性；在适当的诊断、治疗和随访方面可能存在很大的不确定性；提供者和家长之间可能存在很大的焦虑；正常儿童可能会受到不必要的治疗和“医疗化”；对医疗和人寿保险产生负面影响的可能性，以及获得真正知情同意的几乎不可能完成的任务。此外，将基因组测序添加到国家统计局的潜在负面后果可能会危及所有国家统计局，而国家统计局已经并将继续为全世界成千上万的儿童及其家庭带来好处。
The potential for genomic screening of the newborn, specifically adding genomic screening to current newborn screening (NBS), raises very significant ethical issues. Regardless of whether NBS of this type would include entire genomes or only the coding region of the genome (exome screening) or even sequencing specific genes, the ethical issues raised would be enormous. These issues include the limitations of bioinformatic interpretation of identified variants in terms of pathogenicity and accurate prognosis, the potential for substantial uncertainty about appropriate diagnosis, therapy, and follow-up, the possibility of much anxiety among providers and parents, the potential for unnecessary treatment and “medicalizing” normal children, the possibility of adding large medical costs for otherwise unnecessary follow-up and testing, the potential for negatively impacting medical and life insurance, and the almost impossible task of obtaining truly-informed consent. Moreover, the potentially-negative consequences of adding genomic sequencing to NBS might jeopardize all of NBS which has been and continues to be so beneficial for thousands of children and their families throughout the world.