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Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review.健康人群中群体遗传筛查的障碍与促进因素:一项系统综述
Front Genet. 2022 Jul 4;13:865384. doi: 10.3389/fgene.2022.865384. eCollection 2022.
2
Information Avoidance, Self-affirmation, and Intentions to Receive Genomic Sequencing Results Among Members of an African Descent Cohort.非裔人群中信息回避、自我肯定与接受基因测序结果意向的关系
Ann Behav Med. 2022 Feb 11;56(2):205-211. doi: 10.1093/abm/kaab042.
3
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).基于DNA的筛查与个人健康:美国医学遗传学与基因组学学会(ACMG)为个人和医疗服务提供者提供的一份需考虑要点声明
Genet Med. 2021 Jun;23(6):979-988. doi: 10.1038/s41436-020-01083-9. Epub 2021 Mar 31.
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Precision Population Medicine in Primary Care: The Sanford Chip Experience.基层医疗中的精准人群医学:桑福德芯片项目经验
Front Genet. 2021 Mar 12;12:626845. doi: 10.3389/fgene.2021.626845. eCollection 2021.
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DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG).基于DNA的筛查与群体健康:美国医学遗传学与基因组学学会(ACMG)为项目及赞助组织提供的一份需考虑要点声明
Genet Med. 2021 Jun;23(6):989-995. doi: 10.1038/s41436-020-01082-w. Epub 2021 Mar 16.
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Implementation outcomes of Humanwide: integrated precision health in team-based family practice primary care.Humanwide:基于团队的家庭实践初级保健中的综合精准健康实施结果。
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Racial and Ethnic Disparities in Genetic Testing at a Hereditary Breast and Ovarian Cancer Center.遗传性乳腺癌和卵巢癌中心的基因检测中的种族和民族差异。
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公众对癌症风险人群基因筛查的关注。

Public Interest in Population Genetic Screening for Cancer Risk.

作者信息

Roberts Megan C, Foss Kimberly S, Henderson Gail E, Powell Sabrina N, Saylor Katherine W, Weck Karen E, Milko Laura V

机构信息

Division of Pharmaceutical Outcomes and Policy, UNC Eshelman School of Pharmacy, Chapel Hill, NC, United States.

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.

出版信息

Front Genet. 2022 Jul 22;13:886640. doi: 10.3389/fgene.2022.886640. eCollection 2022.

DOI:10.3389/fgene.2022.886640
PMID:35938028
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9354961/
Abstract

An emerging role for DNA sequencing is to identify people at risk for an inherited cancer syndrome in order to prevent or ameliorate the manifestation of symptoms. Two cancer syndromes, Hereditary Breast and Ovarian Cancer and Lynch Syndrome meet the "Tier 1" evidence threshold established by the Centers for Disease Control and Prevention (CDC) for routine testing of patients with a personal or family history of cancer. Advancements in genomic medicine have accelerated public health pilot programs for these highly medically actionable conditions. In this brief report, we provide descriptive statistics from a survey of 746 US respondents from a Qualtrics panel about the public's awareness of genetic testing, interest in learning about their cancer risk, and likelihood of participating in a population genetic screening (PGS) test. Approximately of half the respondents were aware of genetic testing for inherited cancer risk (n = 377/745, 50.6%) and would choose to learn about their cancer risk (n-309/635, 48.7%). Characteristics of those interested in learning about their cancer risk differed by educational attainment, age, income, insurance status, having a primary care doctor, being aware of genetic testing, and likelihood of sharing information with family ( < 0.05). A sizeable majority of the respondents who were interested in about learning their cancer risk also said that they were likely to participate in a PGS test that involved a clinical appointment and blood draw, but no out-of-pocket cost (n = 255/309, 82.5%). Reasons for not wanting to participate included not finding test results interesting or important, concerns about costs, and feeling afraid to know the results. Overall, our results suggest that engaging and educating the general population about the benefits of learning about an inherited cancer predisposition may be an important strategy to address recruitment barriers to PGS.

摘要

DNA测序的一个新作用是识别有遗传性癌症综合征风险的人,以预防或减轻症状表现。遗传性乳腺癌和卵巢癌以及林奇综合征这两种癌症综合征符合美国疾病控制与预防中心(CDC)为有个人或家族癌症病史的患者进行常规检测所设定的“一级”证据阈值。基因组医学的进步加速了针对这些具有高度医学可操作性疾病的公共卫生试点项目。在本简要报告中,我们提供了对Qualtrics面板中746名美国受访者的调查描述性统计数据,内容涉及公众对基因检测的认知、了解自身癌症风险的兴趣以及参与群体基因筛查(PGS)检测的可能性。大约一半的受访者知晓针对遗传性癌症风险的基因检测(n = 377/745,50.6%),并且会选择了解自身的癌症风险(n = 309/635,48.7%)。对了解自身癌症风险感兴趣的人群特征在教育程度、年龄、收入、保险状况、是否有初级保健医生、是否知晓基因检测以及与家人分享信息的可能性等方面存在差异(<0.05)。对了解自身癌症风险感兴趣的受访者中,相当大比例的人还表示他们可能会参与涉及临床预约和抽血且无需自付费用的PGS检测(n = 255/309,82.5%)。不想参与的原因包括认为检测结果无趣或不重要、担心费用以及害怕知道结果。总体而言,我们的结果表明,让普通人群了解并认识到了解遗传性癌症易感性的益处可能是解决PGS招募障碍的一项重要策略。