Graduate Program in Public Health-PPGSC, Health Sciences Center at the Federal University of Espírito Santo (UFES), Vitoria, ES, Brazil.
Health Sciences Center at the Federal University of Espírito Santo (UFES), Vitoria, ES, Brazil.
PLoS One. 2022 Jul 25;17(7):e0271286. doi: 10.1371/journal.pone.0271286. eCollection 2022.
Although most neoplasms result from complex interactions between the individual's genome and the environment, a percentage of cases is particularly due to inherited alterations that confer a greater predisposition to the development of tumors. Hereditary Neoplastic Syndromes have a high psychosocial and economic burden, in addition to being characterized by an increased risk for one or more types of cancer, onset of malignancy at a young age, high risk of secondary malignancies, and occurrence in successive generations of the family. Personal and family history, as well as pedigree, may be useful resources to estimate the risk for developing cancer, especially in Primary Health Care settings.
To identify and evaluate the evidence regarding the impact of using family history as a genomic technology for Hereditary Neoplastic Syndromes screening at Primary Health Care.
This systematic review protocol was elaborated in compliance with the Preferred Reporting Items for Systematic Review and Meta-analysis Protocols (PRISMA-P). We will include all observational as well as experimental study designs published up to end of July 2022, and studies covering the impact of family history on screening for Hereditary Neoplastic Syndromes in primary health care. Qualitative studies, as well as guidelines, reviews, and studies undertaken in hospitals, outpatient clinic, or medical environments will be excluded. Five databases will be searched, including MEDLINE/PubMed, Cochrane Library, EMBASE, Web of Science, and LILACS. Additional sources will also be retrieved, including Clinical trials.gov-NIH, The British Library, and Google Scholar. No restriction to language or date will be employed in the search strategy. Three investigators will select studies independently, perform data extraction, and conduct the critical appraisal of the risk of bias and overall quality of the selected studies according to their designs. Regarding data synthesis, the study characteristics will be summarized and presented in tables and results will be presented according to the study design. A qualitative synthesis of data will also be provided in this systematic review.
To the best of our knowledge, this systematic review will be the first to identify and critically assess evidence regarding the impact of using family history as a genomic technology for Hereditary Neoplastic Syndromes screening in Primary Health Care settings worldwide. This study is expected to provide consistent evidence that will aid the primary care decision-makers regarding hereditary cancer screening, thus helping individuals and families at risk for cancer.
CRD42020166211.
尽管大多数肿瘤是个体基因组与环境之间复杂相互作用的结果,但仍有一定比例的病例特别归因于遗传改变,这些改变使肿瘤的发生倾向更大。遗传性肿瘤综合征不仅具有较高的心理社会和经济负担,而且还具有以下特征:一种或多种类型癌症的发病风险增加、发病年龄较早、二次恶性肿瘤的风险较高,以及家族中连续几代人发病。个人和家族史以及系谱可能是评估癌症发病风险的有用资源,尤其是在初级保健环境中。
确定和评估利用家族史作为遗传性肿瘤综合征初级保健筛查的基因组技术的影响方面的证据。
本系统评价方案是根据系统评价和荟萃分析报告的首选报告项目(PRISMA-P)制定的。我们将纳入截至 2022 年 7 月底发表的所有观察性和实验性研究设计,以及涵盖家族史对初级保健中遗传性肿瘤综合征筛查影响的研究。将排除定性研究、指南、综述以及在医院、门诊或医疗环境中进行的研究。将从 5 个数据库中进行检索,包括 MEDLINE/PubMed、Cochrane 图书馆、EMBASE、Web of Science 和 LILACS。还将检索其他来源,包括 Clinical trials.gov-NIH、大英图书馆和 Google Scholar。在搜索策略中不会对语言或日期进行限制。三名调查员将独立选择研究、进行数据提取,并根据研究设计对纳入研究的偏倚风险和总体质量进行批判性评估。关于数据综合,将总结研究特征并以表格形式呈现,根据研究设计呈现结果。在这个系统评价中也将提供数据的定性综合。
据我们所知,这是第一个在全球范围内确定和批判性评估利用家族史作为遗传性肿瘤综合征初级保健筛查的基因组技术的影响的证据的系统评价。本研究预计将提供一致的证据,帮助初级保健决策者做出遗传性癌症筛查决策,从而帮助癌症风险个体和家庭。
CRD42020166211。