JMIR Publications

ABSTRACT

Background:

Genomics and precision medicine may improve childhood screening, diagnosis, and treatment, but equitable inclusion requires attention to the rights and priorities of Indigenous peoples. Biomedical findings alone do not establish whether research supports Indigenous governance, culturally safe practice, or control over biological samples and genomic data. A systematic examination of both clinical evidence and Indigenous research quality is needed to understand how Indigenous children are included in this field.

Objective:

This systematic review will examine how Indigenous children aged 0–18 years are included in human genomics and precision medicine research in Canada, Australia, New Zealand, and the United States (CANZUS), assess methodological quality, and evaluate reporting of community engagement, Indigenous governance, data sovereignty, cultural safety, and community benefit.

Methods:

We will search MEDLINE, CINAHL, and Scopus for empirical studies published in English from January 2010, to the June 2025. Eligible studies will involve Indigenous participants aged 0–18 years in CANZUS countries. Mixed-age cohorts will be eligible if they include pediatric participants; separately reported pediatric findings will not be required. We will include human genomics and precision medicine research and exclude pathogen genomics. Two reviewers will independently screen titles and abstracts and assess full texts, with disagreements resolved by a third reviewer. At least one Aboriginal academic will undertake title and abstract screening, full-text screening, and data extraction. We will use design-specific JBI appraisal tools and the Aboriginal and Torres Strait Islander Quality Appraisal Tool developed through CREATE, acknowledging the contextual limits of its application outside Australia. We will synthesize findings descriptively and thematically.

Results:

The review was registered in PROSPERO in February 2025 (CRD42025555329), and literature searching commenced in June 2025. The review remains ongoing, with completion anticipated in November 2026. The anticipated outputs will describe Indigenous pediatric inclusion, methodological quality, and reported Indigenous engagement, governance, control over research materials, and benefit. No completed review findings are reported in this protocol.

Conclusions:

This review will bring methodological appraisal together with assessment of Indigenous research quality to examine how genomic research includes Indigenous children and supports community authority and benefit. The findings may inform more transparent and culturally responsive approaches to pediatric genomic research. Clinical Trial: PROSPERO CRD42025555329