Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY
Susan M Wolf, Robert C Green
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引用次数: 0

Abstract

Genome sequencing is increasingly used in research and integrated into clinical care. In the research domain, large-scale analyses, including whole genome sequencing with variant interpretation and curation, virtually guarantee identification of variants that are pathogenic or likely pathogenic and actionable. Multiple guidelines recommend that findings associated with actionable conditions be offered to research participants in order to demonstrate respect for autonomy, reciprocity, and participant interests in health and privacy. Some recommendations go further and support offering a wider range of findings, including those that are not immediately actionable. In addition, entities covered by the US Health Insurance Portability and Accountability Act (HIPAA) may be required to provide a participant's raw genomic data on request. Despite these widely endorsed guidelines and requirements, the implementation of return of genomic results and data by researchers remains uneven. This article analyzes the ethical and legal foundations for researcher duties to offer adult participants their interpreted results and raw data as the new normal in genomic research.

大规模或全基因组测序基因组研究结果的回归:迈向新常态。
基因组测序越来越多地用于研究,并融入临床护理。在研究领域,大规模分析,包括具有变体解释和管理的全基因组测序,实际上保证了对致病性或可能致病性且可操作的变体的识别。多项指南建议向研究参与者提供与可操作条件相关的研究结果,以表明对自主性、互惠性以及参与者在健康和隐私方面的利益的尊重。一些建议更进一步,支持提供更广泛的调查结果,包括那些不能立即采取行动的调查结果。此外,《美国健康保险便携性和责任法案》(HIPAA)涵盖的实体可能被要求应要求提供参与者的原始基因组数据。尽管这些指导方针和要求得到了广泛认可,但研究人员在返回基因组结果和数据方面的实施仍然参差不齐。本文分析了研究人员向成年参与者提供解释结果和原始数据作为基因组研究新常态的职责的伦理和法律基础。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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