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1
Personal utility in genomic testing: is there such a thing?基因检测中的个人效用:有这样的东西吗?
J Med Ethics. 2015 Apr;41(4):322-6. doi: 10.1136/medethics-2013-101887. Epub 2014 May 28.
2
Regulation: The FDA is overcautious on consumer genomics.监管:美国食品药品监督管理局(FDA)对消费者基因组学过于谨慎。
Nature. 2014 Jan 16;505(7483):286-7. doi: 10.1038/505286a.
3
Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.200 名接受临床外显子组测序个体中,关于披露次要检测结果的患者决策。
Genet Med. 2014 May;16(5):395-9. doi: 10.1038/gim.2013.153. Epub 2013 Oct 10.
4
Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies.直接面向消费者的基因检测与个人基因组学服务:近期实证研究综述
Curr Genet Med Rep. 2013 Sep;1(3):182-200. doi: 10.1007/s40142-013-0018-2.
5
A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.预测性检测和早期识别神经退行性疾病后的生活质量评估综述。
Prog Neurobiol. 2013 Nov;110:2-28. doi: 10.1016/j.pneurobio.2013.08.003. Epub 2013 Sep 11.
6
Recommendations for returning genomic incidental findings? We need to talk!关于如何报告基因组偶然发现的建议?我们需要谈谈!
Genet Med. 2013 Nov;15(11):854-9. doi: 10.1038/gim.2013.113. Epub 2013 Aug 1.
7
'Battling my biology': psychological effects of genetic testing for risk of weight gain.“与我的生理特征作斗争”:基因检测对体重增加风险的心理影响
J Genet Couns. 2014 Apr;23(2):179-86. doi: 10.1007/s10897-013-9628-9. Epub 2013 Jul 6.
8
Who's on first in exome and whole genome sequencing? Is it the patient or the incidental findings?在全外显子组测序和全基因组测序中,谁占主导地位?是患者还是偶然发现的结果?
Mol Genet Metab. 2013 Sep-Oct;110(1-2):1-2. doi: 10.1016/j.ymgme.2013.06.001. Epub 2013 Jun 7.
9
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.ACMG 临床外显子组和基因组测序中偶然发现报告的推荐标准。
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10
Return of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT).基因组医学中偶发发现的返还:衡量患者重视的内容——开发一种用于衡量下一代检测信息偏好的工具(IMPRINT)。
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一种评估个人基因组检测对常见疾病风险的情感影响及情绪暗示的新方法。

A new approach to assessing affect and the emotional implications of personal genomic testing for common disease risk.

作者信息

O'Neill Suzanne C, Tercyak Kenneth P, Baytop Chanza, Hensley Alford Sharon, McBride Colleen M

机构信息

Georgetown Lombardi Comprehensive Cancer Center, Washington, D.C., USA.

出版信息

Public Health Genomics. 2015;18(2):104-12. doi: 10.1159/000370101. Epub 2015 Jan 21.

DOI:10.1159/000370101
PMID:25612474
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4348333/
Abstract

AIMS

Personal genomic testing (PGT) for common disease risk is becoming increasingly frequent, but little is known about people's array of emotional reactions to learning their genomic risk profiles and the psychological harms/benefits of PGT. We conducted a study of post-PGT affect, including positive, neutral, and negative states that may arise after testing.

METHODS

A total of 228 healthy adults received PGT for common disease variants and completed a semistructured research interview within 2 weeks of disclosure. The study participants reported how the PGT results made them feel in their own words. Using an iterative coding process, the responses were organized into three broad affective categories: negative, neutral, and positive affect.

RESULTS

Neutral affect was the most prevalent response (53.9%), followed by positive affect (26.9%) and negative affect (19.2%). We found no differences by gender, race, or education.

CONCLUSIONS

While <20% of participants reported negative affect in response to learning their genomic risk profile for common diseases, a majority experienced either neutral or positive emotions. These findings contribute to the growing evidence that PGT does not impose significant psychological harms. Moreover, they point to a need to better link theories and assessments in both emotional and cognitive processing to capitalize on PGT information for healthy behavior change.

摘要

目的

针对常见疾病风险的个人基因组检测(PGT)越来越频繁,但对于人们了解其基因组风险概况后的一系列情绪反应以及PGT的心理危害/益处知之甚少。我们开展了一项关于PGT后影响的研究,包括检测后可能出现的积极、中性和消极状态。

方法

共有228名健康成年人接受了常见疾病变异的PGT检测,并在结果披露后的2周内完成了一次半结构化研究访谈。研究参与者用自己的话描述了PGT结果给他们带来的感受。通过迭代编码过程,将回答整理为三大情感类别:消极、中性和积极情感。

结果

中性情感是最普遍的反应(53.9%),其次是积极情感(26.9%)和消极情感(19.2%)。我们发现性别、种族或教育程度方面没有差异。

结论

虽然不到20%的参与者在得知自己常见疾病的基因组风险概况后报告了消极情感,但大多数人经历的是中性或积极情绪。这些发现进一步证明了PGT不会造成重大心理危害。此外,它们还指出需要更好地将情绪和认知加工中的理论与评估联系起来,以便利用PGT信息促进健康行为改变。