A Social Enterprise to deliver DNA-based diagnostics that improves outcomes of children and young adults with blood diseases in sub-Saharan Africa
Blood diseases are a major health problem in the region. Up to 30% of its population carry inherited anaemia genes, and 90% of all childhood blood cancers world-wide occur in Sub- Saharan Africa because of their association to infections that are common in this region (EBV, HIV, malaria). Together, these two disease groups alone account for 420,000 childhood deaths each year (or over 10% of the children who die under the age of 5).
Importantly, effective and affordable therapies are available and funded by sub-Saharan governments, however, affordable diagnostics are not, because current diagnostics require highly skilled multidisciplinary staff and equipment and methodologies that cannot easily be maintained.
Thanks to the initial MLSTF and SE2020 funding, the team were able to leverage £4.3m of NIHR Global Health funding and in-kind contributions from Illumina and ONT. In close collaboration with MUHAS, the Muhimbili National Hospital and the patient charity Tumaina la Maisha, they have put in place the required infrastructure to facilitate national patient referrals, local sequencing, joint cloud-based data analysis and clinical data collection for the WHO Cancer Registry.
Together with their African collaborators, they have put in place frameworks to consent parents/patients for DNA analysis and to provide diagnostic-grade DNA testing for as low as $10/test. As of January 2020, 222 children and young adults have undergone testing, and Muhumbili National Hospital has already adopted one of the tests to provide government- funded diagnosis of chronic myeloid leukaemia.
Their next steps will be to make a convincing case to investors and to continue discussions with representatives from the Ministry of Health and all other stakeholders to secure sustainability for genetic diagnostics that will save the lives of thousands of children and young adults in the region.