Genome Tunisia Project: paving the way for precision medicine in North Africa

Abstract

Background: Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized medicine. Here, we present the Genome Tunisia Project, a two-phased initiative (2022-2035) which aims to deliver the reference sequence of the Tunisian Genome and to support the implementation of personalized medicine in Tunisia, a North African country that represents a central hub of population admixture and human migration between African, European, and Asian populations. The main goal of this initiative is to develop a healthcare system capable of incorporating omics data for use in routine medical practice, enabling medical doctors to better prevent, diagnose, and treat patients.

Methods: A multidisciplinary partnership involving Tunisian experts from different institutions has come to discern all requirements that would be of high priority to fulfill the project's goals. One of the most urgent priorities is to determine the reference sequence of the Tunisian Genome. In addition, extensive situation analysis and revision of the education programs, community awareness, appropriate infrastructure including sequencing platforms and biobanking, as well as ethical and regulatory frameworks, have been undertaken towards building sufficient capacity to integrate personalized medicine into the Tunisian healthcare system.

Results: In the framework of this project, an ecosystem with all engaged stakeholders has been implemented including healthcare providers, clinicians, researchers, pharmacists, bioinformaticians, industry, policymakers, and advocacy groups. This initiative will also help to reinforce research and innovation capacities in the field of genomics and to strengthen discoverability in the health sector.

Conclusions: Genome Tunisia is the first initiative in North Africa that seeks to demonstrate the major impact that can be achieved by Human Genome Projects in low- and middle-income countries to strengthen research and to improve disease management and treatment outcomes, thereby reducing the social and economic burden on healthcare systems. Sharing this experience within the African scientific community is a chance to turn a major challenge into an opportunity for dissemination and outreach. Additional efforts are now being made to advance personalized medicine in patient care by educating consumers and providers, accelerating research and innovation, and supporting necessary changes in policy and regulation.

Keywords: Biobanking; Care pathway; Cost-effectiveness; Data sharing; Government support; Health economics; Human genomics; Precision medicine; Socio-economic impact; Tunisian reference genome.

Fig. 1

Main goals of the Genome Tunisia Project (2022–2035). The Genome Tunisia Project has three main aims (1) strengthening public health system, (2) reinforcing research system and capacity building, and (3) socio-economic development. Each of these aims is divided into specific goals including identification of genetic variants specific to the Tunisian population, implementation of pharmacogenetics and oncogenetics in routine medical care, discovery of novel therapeutic targets, and enabling equality and equity for access to medical care

Fig. 2

Main milestones and task forces of the Genome Tunisia Project (2022–2035). A Phase 1—Milestones and timelines. Milestone 1: ethical and regulation approvals; milestone 2: sample collection; milestone 3: whole-genome sequencing; milestone 4: data analysis; milestone 5: results sharing. B Phase 2—Twelve task forces are planned for the second phase of the Genome Tunisia Project (TF1 to TF12)

Fig. 3

NGS platforms installed in public institutions, members of the Genome Tunisia Project located in the Northern, Central, and Southern regions of the country

Fig. 4

Care pathway for genetic testing using NGS. A When using gene panels or clinical exome analysis. B When using WES or WGS analysis. The pathways differ in the sequencing platforms used and also the need for multidisciplinary consultation meetings to validate the need for WES or WGS

Fig. 5

The special interest groups that emerged from the Genome Tunisia Project. Tunisian Society of Human Genomics (TSHG)

Fig. 6

Key steps for precision medicine (PM) implementation in Tunisia and the North African region (adapted from Chanfreau-Coffinier et al. 2019)