Aug 7•Tunde Animashaun MPH, Adaobi Duru
Amidst the vast genetic diversity of Africa, both challenges and opportunities emerge in the realm of healthcare and diagnostics. The prevailing absence of biomarker inclusion in diagnostic methods development has led to substantial deficiencies in disease diagnosis, exacerbating misdiagnoses, delayed treatments, and a limited understanding of region-specific ailments. The urgency for precision diagnostics in Africa becomes undeniable, as it holds the potential to transcend the current healthcare landscape, enabling tailored and accurate medical interventions for its diverse populations.
Navigating Challenges in Diagnostic Methods
Africa’s genetic tapestry, replete with diversity, beckons the world of medical research. Yet, this diversity remains under-represented in global genomic databases, a stark reality unveiled in the seminal study by Popejoy and Fullerton in 2016. African ancestry constituted a mere 2.5% of participants in genomic research, a disconcerting statistic with far-reaching implications. The dearth of representation perpetuates health disparities, impeding the development of precision diagnostic tools uniquely adapted to Africa’s genetic landscape, leaving countless lives vulnerable to suboptimal treatments.
Compounding the complexity, Africa bears the burden of Neglected Tropical Diseases (NTDs), affecting over 400 million lives, as declared by the World Health Organization in 2021. These diseases continue to cast a shadow over the continent, exacerbated by the lack of research and development efforts devoted to precision diagnostics. The paucity of focused research obstructs early detection and targeted treatments for NTDs, underscoring the pressing need to invest in precision diagnostics and alleviate the pervasive suffering they inflict upon African communities.
Averting the Challenges: Precision Diagnostics Unveiled
Precision diagnostics in genetically diverse Africa heralds a new dawn of hope and empowerment for healthcare providers. Armed with the means to identify ethnic biomarkers associated with diseases, precision diagnostics bestows the gift of accuracy and improved treatment outcomes. A compelling illustration lies in the realm of gynaecological cancers, where breast cancer emerges as a formidable adversary, with 70% of cases being hormone receptor positive. The determination of hormone receptor status becomes a pivotal factor in guiding the selection of endocrine therapies like tamoxifen, strategically neutralizing the impact of hormones on malignant cells.
Notably, precision diagnostics extends its reach beyond gynaecological cancers to address the harrowing prevalence of Neglected Tropical Diseases (NTDs) such as malaria, HIV, and tuberculosis. In new assay validation for example, Limits of Detection and sensitivity of an assay cannot be truly ascertained without analyzing biospecimens across demographics and ethnicities. Expanded target validation ensures the reliability, sensitivity and specificity of diagnostic tests, empowering healthcare providers to deliver accurate diagnoses, timely interventions, and improved patient outcomes. Such validation plans are becoming even more relevant for emerging threats. Metaphor Laboratory is facilitating early detection and precision diagnostics by partnering in the development and validation of assays and technologies.
Similarly, Companion diagnostics or CDx emerges as a powerful ally for new oncology therapies. This new approach uses specific biomarkers to determine beneficiaries for a certain drug or therapy and rules out non-beneficiaries for unnecessary and sometimes debilitating treatment options.
Embracing a Future of Healthcare Transformation:
Precision diagnostics and CDx arms healthcare providers with the capacity to mitigate the suffering imposed by NTDs and Cancer on the African population.
Developing quality certified laboratory infrastructure is one of the 4 pillars of Metaphor Laboratory’s mission towards achieving this. This creates the enabling foundation for global research participation. Working in collaboration with government agencies/regulators, ethical committees, and the biotech ecosystem, we are helping to build the next era of healthcare in sub- Saharan Africa.
In summary, Africa embraces the power of precision medicine as diagnostics presents a low hanging fruit towards sustainable health. For this to be achieved, priority has to be given to modalities that will reduce hospital visits i.e. early and precise diagnostics which further relies on reliables assays and technologies developed in quality certified labs.
Metaphor Laboratory welcomes biotech development in our combined 10,000 sq/ft laboratory in Lagos and Frederick with access to thousands of ethnically diverse and ethically sourced biomarkers.
References
1. Popejoy, A. B., & Fullerton, S. M. (2016). Genomics is failing on diversity. Nature, 538(7624), 161-164. doi:10.1038/538161a.
2. World Health Organization (WHO). (2021). Neglected Tropical Diseases. Retrieved from https://www.who.int/teams/control-of-neglected-tropical-diseases/neglected-tropical-diseases.
