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. 2021 Mar 24;15(1):20.
doi: 10.1186/s40246-021-00315-6.

How to design a national genomic project-a systematic review of active projects

Anja Kovanda  1 , Ana Nyasha Zimani  1 , Borut Peterlin  2
Affiliations

How to design a national genomic project-a systematic review of active projects

Anja Kovanda et al. Hum Genomics. .

Abstract

An increasing number of countries are investing efforts to exploit the human genome, in order to improve genetic diagnostics and to pave the way for the integration of precision medicine into health systems. The expected benefits include improved understanding of normal and pathological genomic variation, shorter time-to-diagnosis, cost-effective diagnostics, targeted prevention and treatment, and research advances.We review the 41 currently active individual national projects concerning their aims and scope, the number and age structure of included subjects, funding, data sharing goals and methods, and linkage with biobanks, medical data, and non-medical data (exposome). The main aims of ongoing projects were to determine normal genomic variation (90%), determine pathological genomic variation (rare disease, complex diseases, cancer, etc.) (71%), improve infrastructure (59%), and enable personalized medicine (37%). Numbers of subjects to be sequenced ranges substantially, from a hundred to over a million, representing in some cases a significant portion of the population. Approximately half of the projects report public funding, with the rest having various mixed or private funding arrangements. 90% of projects report data sharing (public, academic, and/or commercial with various levels of access) and plan on linking genomic data and medical data (78%), existing biobanks (44%), and/or non-medical data (24%) as the basis for enabling personal/precision medicine in the future.Our results show substantial diversity in the analysed categories of 41 ongoing national projects. The overview of current designs will hopefully inform national initiatives in designing new genomic projects and contribute to standardisation and international collaboration.

Keywords: Exposome; National genomic projects; Normal genomic variation; Pathological genomic variation; Personalized medicine; Population genomics; Precision medicine.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
PRISMA type approach to the selection of projects to be included in the analysis
Fig. 2
Fig. 2
National genomic projects across the world
Fig. 3
Fig. 3
Overlap of major aims of the 41 currently active national genomic projects
Fig. 4
Fig. 4
Primary aims of active national genomic projects
Fig. 5
Fig. 5
Overlap between 32 projects linking genomic data with biobanks, medical and non-medical data
See this image and copyright information in PMC

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