Actions and Uncertainty: How Prenatally Diagnosed Variants of Uncertain Significance Become Actionable
Actions and Uncertainty: How Prenatally Diagnosed Variants of Uncertain Significance Become Actionable
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DOI：
10.1002/hast.1018
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发表时间：
2019-05-01
影响因子：
3.3
通讯作者：
Bernhardt, Barbara A.
中科院分区：
文献类型：
--
作者：
Werner-Lin, Allison;McCoyd, Judith L. M.;Bernhardt, Barbara A.
基因组技术的发展看起来几乎是不可思议的。无论是在医学界还是在公众中，对它的兴奋都源于这样一种信念，即基因组技术将阐明健康和疾病的原因，将导致对罕见和常见遗传疾病的有效干预，并将为生殖决策提供信息。然而，新的诊断工具往往在靶向治疗开发、测试或可用之前，以及在其心理社会影响被探索之前就被部署了。较新的技术，如产前全外显子组筛查，被认为是为准父母提供“决策自主权”，尽管这些技术确定的基因测序信息可能没有明确的意义。进行基因测序的能力与完全理解测试结果意味着什么的能力之间的“治疗差距”，更不用说提供什么治疗了，这使得家庭在怀孕期间无法自信地采取行动。在这篇文章中，我们将考虑心理社会和伦理的影响，这种预防措施和不确定的信息，这些技术所产生的个人和家庭和社会方面，如医疗服务的使用和人口不平等。
The development of genomic technologies has seemed almost magical. Excitement about it, both in medicine and among the public, stems from the belief that genomic techniques will illuminate the causes of health and disease, will lead to effective interventions for both rare and common genetic conditions, and will inform reproductive decision-making. Novel diagnostic tools, however, are often deployed before targeted therapies are developed, tested, or available and before their psychosocial implications are explored. Newer technologies such as prenatal whole exome screening are seen as offering "decisional autonomy" to expectant parents, although such technologies identify information about genetic sequencing that may not have clear meaning. The "therapeutic gap" between the ability to conduct genetic sequencing and the ability to fully understand what the test results mean, much less what treatments to offer, leaves families with complex and unclear information they cannot act upon with confidence during pregnancy. In this essay, we will consider the psychosocial and ethical implications of such assumptions-and of the uncertain information produced by these technologies-for individuals and families and for societal aspects such as medical service usage and demographic inequities.