Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review.
Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review.
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DOI：
10.3389/fgene.2022.865384
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发表时间：
2022
影响因子：
3.7
通讯作者：
中科院分区：
文献类型：
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作者：
研究表明，美国1-3%的普通人群在不知不觉中携带了常见遗传性疾病的遗传风险因素。群体遗传筛查是在一般人群中为健康患者提供基因组变异检测的过程，这些基因组变异使他们容易患上临床上可操作的疾病，这意味着如果早期检测到这些疾病，就可以预防或减轻这些疾病。群体遗传筛查可通过告知针对风险的预防或治疗战略和促进适当参与早期发现，大大降低这些疾病的发病率和死亡率。为了更好地了解与实施人群遗传筛查相关的当前障碍、促进因素、看法和结果，我们进行了一项系统性综述，并在PubMed、Embase和Scopus中检索了从数据库成立之日起至2020年5月发表的文章。我们纳入的文章1）详细介绍了群体遗传筛查项目参与者的观点，2）描述了患者，医疗保健提供者和公众中与群体遗传筛查项目相关的障碍，促进因素，看法和结果。我们排除了1）关注直接面向消费者或基于风险的基因检测的文章，以及2）2000年1月之前发表的文章。30篇文章符合这些标准。群体遗传筛查的障碍和促进因素由社会生态模型组织，并按主题进一步分类。我们发现，在人口遗传筛查的研究集中在利益相关者的态度，所有纳入的研究旨在阐明个人的看法。此外，知识不足和感知有限的临床效用提出了一个障碍，医疗保健提供者的吸收。很少有研究对群体遗传筛查进行长期随访和评价。我们的研究结果表明，这些因素和其他因素，如筛选前的咨询和教育，可能会在采用和实施群体遗传筛查中发挥作用。未来的研究，以调查宏观层面的决定因素，战略，以增加供应商购买和知识，提供模式的预筛选咨询，和长期的人口遗传筛查的结果是必要的有效设计和实施这些计划。系统评价注册：https://www.crd.york.ac.uk/prospero/display_record.php? ID=CRD42020198198
Studies suggest that 1–3% of the general population in the United States unknowingly carry a genetic risk factor for a common hereditary disease. Population genetic screening is the process of offering otherwise healthy patients in the general population testing for genomic variants that predispose them to diseases that are clinically actionable, meaning that they can be prevented or mitigated if they are detected early. Population genetic screening may significantly reduce morbidity and mortality from these diseases by informing risk-specific prevention or treatment strategies and facilitating appropriate participation in early detection. To better understand current barriers, facilitators, perceptions, and outcomes related to the implementation of population genetic screening, we conducted a systematic review and searched PubMed, Embase, and Scopus for articles published from date of database inception to May 2020. We included articles that 1) detailed the perspectives of participants in population genetic screening programs and 2) described the barriers, facilitators, perceptions, and outcomes related to population genetic screening programs among patients, healthcare providers, and the public. We excluded articles that 1) focused on direct-to-consumer or risk-based genetic testing and 2) were published before January 2000. Thirty articles met these criteria. Barriers and facilitators to population genetic screening were organized by the Social Ecological Model and further categorized by themes. We found that research in population genetic screening has focused on stakeholder attitudes with all included studies designed to elucidate individuals’ perceptions. Additionally, inadequate knowledge and perceived limited clinical utility presented a barrier for healthcare provider uptake. There were very few studies that conducted long-term follow-up and evaluation of population genetic screening. Our findings suggest that these and other factors, such as prescreen counseling and education, may play a role in the adoption and implementation of population genetic screening. Future studies to investigate macro-level determinants, strategies to increase provider buy-in and knowledge, delivery models for prescreen counseling, and long-term outcomes of population genetic screening are needed for the effective design and implementation of such programs. Systematic Review Registration: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42020198198
影响因子：
1.7
作者：
O'Neill SC;Tercyak KP;Baytop C;Hensley Alford S;McBride CM
通讯作者：
McBride CM