Infrastructure for bioinformatics applications in Tanzania: Lessons from the Sickle Cell Programme

Area of Science:

• Genetics and Bioinformatics
• Clinical Research
• Public Health in Africa

Background:

• Sickle cell disease (SCD) is a prevalent genetic disorder in Africa, with ongoing research focusing on genotype-phenotype correlations.
• Advancements in 'omics' technologies have led to a surge in molecular and genetic data for SCD.
• However, a significant gap exists in interpreting this genetic data and translating it into clinical practice, particularly in developing regions.

Purpose of the Study:

• To illustrate a model for integrating bioinformatics and clinical research infrastructure within SCD care.
• To address the challenge of underdeveloped bioinformatics capacity in developing regions for genetic disease research.
• To showcase the Sickle Cell Programme (SCP) at Muhimbili University of Health and Allied Sciences (MUHAS) in Tanzania as a case study.

Main Methods:

• Descriptive case study approach detailing the establishment of bioinformatics infrastructure.
• Integration of bioinformatics tools and expertise within a clinical research setting.
• Concurrent operation of daily clinical care for SCD patients alongside research initiatives.

Main Results:

• The Sickle Cell Programme (SCP) at MUHAS successfully modeled the integration of bioinformatics and clinical research.
• This integration facilitates the interpretation of genetic findings for SCD.
• The model demonstrates a pathway to bridge the gap between genetic data and clinical application in Tanzania.

Conclusions:

• Building robust bioinformatics infrastructure and capacity is crucial for advancing SCD research and care in developing regions.
• The MUHAS SCP model provides a practical framework for integrating genetic research with clinical services.
• Translating genetic discoveries into improved clinical practice for SCD is achievable through strategic infrastructure development.