Suppr超能文献

高风险样本中个体遗传结果的反馈:热情与积极的行为改变。

Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change.

作者信息

Hartz Sarah M, Olfson Emily, Culverhouse Robert, Cavazos-Rehg Patricia, Chen Li-Shiun, DuBois James, Fisher Sherri, Kaphingst Kimberly, Kaufman David, Plunk Andrew, Ramnarine Shelina, Solomon Stephanie, Saccone Nancy L, Bierut Laura J

机构信息

School of Medicine, Washington University in St. Louis, St. Louis, Missouri, USA.

Johns Hopkins University, Washington, DC, USA.

出版信息

Genet Med. 2015 May;17(5):374-9. doi: 10.1038/gim.2014.110. Epub 2014 Aug 28.

Abstract

PURPOSE

The goal of this study was to examine participant responses to disclosure of genetic results in a minority population at high risk for depression and anxiety.

METHODS

Eighty-two subjects in a genetic study of nicotine dependence were offered personalized genetic results. All were nicotine-dependent and 64% self-identified as African American. Pathway Genomics was used to evaluate genetic risks for five complex diseases. Participants returned 4-8 weeks after enrollment for in-person genetic counseling interviews and evaluation of baseline measures. A telephone follow-up was performed 4-8 weeks later to assess responses to results.

RESULTS

Fifty of the 82 subjects (61%) were interested in receiving genetic results. These participants had multiple risk factors, including high baseline measures of depression (66%) and anxiety (32%), as well as low rates of employment (46%), adequate health literacy (46%), and health insurance (45%). Pathway Genomics reported "increased risk" for at least one disease in 77% of subjects. Ninety-five percent of participants reported that they appreciated the genetic results, and receiving these results was not associated with changes in symptoms of depression or anxiety. Furthermore, after return of genetic results, smoking cessation attempts increased (P = 0.003).

CONCLUSION

Even in an underserved population at high risk for adverse psychological reactions, subjects responded positively to personalized genetic results.

摘要

目的

本研究的目的是考察在一个有患抑郁症和焦虑症高风险的少数族裔人群中,参与者对基因检测结果披露的反应。

方法

在一项尼古丁依赖基因研究中的82名受试者获得了个性化的基因检测结果。所有受试者均对尼古丁有依赖,且64%自认为是非洲裔美国人。Pathway Genomics公司被用于评估五种复杂疾病的基因风险。参与者在入组4 - 8周后返回接受面对面的基因咨询访谈和基线测量评估。4 - 8周后进行电话随访以评估对检测结果的反应。

结果

82名受试者中有50名(61%)对获得基因检测结果感兴趣。这些参与者有多种风险因素,包括抑郁症(66%)和焦虑症(32%)的高基线测量值,以及低就业率(46%)、足够的健康素养(46%)和健康保险覆盖率(45%)。Pathway Genomics公司报告称77%的受试者至少有一种疾病的风险“增加”。95%的参与者表示他们感激基因检测结果,且收到这些结果与抑郁或焦虑症状的变化无关。此外,在收到基因检测结果后,戒烟尝试增加(P = 0.003)。

结论

即使在一个有不良心理反应高风险的未得到充分服务的人群中,受试者对个性化的基因检测结果反应积极。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9020/4344933/1d77efd89322/nihms616537f1.jpg

相似文献

1
Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change.
Genet Med. 2015 May;17(5):374-9. doi: 10.1038/gim.2014.110. Epub 2014 Aug 28.
3
Implementation and outcomes of telephone disclosure of clinical BRCA1/2 test results.
Patient Educ Couns. 2013 Dec;93(3):413-9. doi: 10.1016/j.pec.2013.08.009. Epub 2013 Aug 19.
5
Memories and health-related quality of life after intensive care: a follow-up study.
Crit Care Med. 2010 Jan;38(1):38-44. doi: 10.1097/CCM.0b013e3181b42909.
6
The familial aggregation of atopic diseases and depression or anxiety in children.
Clin Exp Allergy. 2018 Jun;48(6):703-711. doi: 10.1111/cea.13127. Epub 2018 Apr 1.
8
Disclosure of the genetic risk of Alzheimer's disease.
N Engl J Med. 2010 Jan 14;362(2):181-2; author reply 182. doi: 10.1056/NEJMc096300.
9
Nicotine withdrawal-induced negative affect is a function of nicotine dependence and not liability to depression or anxiety.
Nicotine Tob Res. 2011 Aug;13(8):677-85. doi: 10.1093/ntr/ntr058. Epub 2011 Apr 18.
10
What factors may influence psychological well being at three months and one year post BRCA genetic result disclosure?
Breast. 2012 Dec;21(6):755-60. doi: 10.1016/j.breast.2012.02.004. Epub 2012 Feb 28.

引用本文的文献

1
How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability.
Per Med. 2025 Apr;22(2):93-101. doi: 10.1080/17410541.2025.2476392. Epub 2025 Mar 18.
2
Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil.
J Community Genet. 2025 Aug;16(4):467-475. doi: 10.1007/s12687-024-00755-2. Epub 2024 Nov 27.
5
Returning personal genetic information on susceptibility to arsenic toxicity to research participants in Bangladesh.
Environ Res. 2024 Jan 1;240(Pt 2):117482. doi: 10.1016/j.envres.2023.117482. Epub 2023 Oct 24.
6
Genomic medicine to reduce tobacco and related disorders: Translation to precision prevention and treatment.
Addict Neurosci. 2023 Sep;7. doi: 10.1016/j.addicn.2023.100083. Epub 2023 Apr 1.
7
Return of individual research results from genomic research: A systematic review of stakeholder perspectives.
PLoS One. 2021 Nov 8;16(11):e0258646. doi: 10.1371/journal.pone.0258646. eCollection 2021.
9
Return of individual research results: What do participants prefer and expect?
PLoS One. 2021 Jul 29;16(7):e0254153. doi: 10.1371/journal.pone.0254153. eCollection 2021.
10
Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression.
J Genet Couns. 2022 Feb;31(1):218-229. doi: 10.1002/jgc4.1475. Epub 2021 Jul 26.

本文引用的文献

1
Regulation: The FDA is overcautious on consumer genomics.
Nature. 2014 Jan 16;505(7483):286-7. doi: 10.1038/505286a.
2
Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.
PeerJ. 2013 Feb 12;1:e8. doi: 10.7717/peerj.8. Print 2013.
3
Attitudes of African Americans toward return of results from exome and whole genome sequencing.
Am J Med Genet A. 2013 May;161A(5):1064-72. doi: 10.1002/ajmg.a.35914.
6
Public perspectives on returning genetics and genomics research results.
Public Health Genomics. 2011;14(6):346-55. doi: 10.1159/000324933. Epub 2011 May 7.
7
Disclosing individual CDKN2A research results to melanoma survivors: interest, impact, and demands on researchers.
Cancer Epidemiol Biomarkers Prev. 2011 Mar;20(3):522-9. doi: 10.1158/1055-9965.EPI-10-1045. Epub 2011 Feb 9.
8
Effect of direct-to-consumer genomewide profiling to assess disease risk.
N Engl J Med. 2011 Feb 10;364(6):524-34. doi: 10.1056/NEJMoa1011893. Epub 2011 Jan 12.
9
Disclosure of individual genetic data to research participants: the debate reconsidered.
Trends Genet. 2011 Feb;27(2):41-7. doi: 10.1016/j.tig.2010.11.004. Epub 2010 Dec 27.
10
Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours.
Cochrane Database Syst Rev. 2010 Oct 6(10):CD007275. doi: 10.1002/14651858.CD007275.pub2.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验