Use of family history taking for hereditary neoplastic syndromes screening in primary health care: A systematic review protocol

by Raphael Manhães Pessanha, Sara Isabel Pimentel de Carvalho Schuab, Karolini Zuqui Nunes, Luís Carlos Lopes-Júnior

Background

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.

Objective

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.

Methods

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.

Discussion

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.

PROSPERO registration number

CRD42020166211.