54gene recently sponsored the 7th edition of the Unibadan Conference on Biomedical Research themed: Dynamism in Biomedical Sciences and Health. The conference featured over 15 plenary lectures and 70 research paper presentations from both expert and emerging scientists who showcased their various research findings in subject matters ranging from Virology, Neuroscience, Precision healthcare, to Hospital practices.
Among the conference’s prominent speakers and attendees were:
- Prof. Charles Esimone – V.C, Nnamdi Azikiwe University, Anambra State, Nigeria
- Dr. Marie-Eve Tremblay – University of Victoria, Canada
- Prof. Annalise Zemlin – National Health Laboratory Service and University of Stellenbosch, South Africa
- Dr. Jumi Popoola – V.P, Molecular Genetics and Biobank Operations, 54gene
Also in attendance were representatives of 54gene’s Molecular Genetics and Biobank Operations. Below are summaries of their insightful presentations:
Precision medicine in Africa: Role of 54gene
By: Dr. Jumi Popoola
This presentation given by our V.P, Molecular Genetics and Biobank Operations, reiterated our mission to improve precision medicine by highlighting the established capabilities and infrastructure we have put in place since our inception 2 years ago, such as:
- Biobanking: Our biobank has the capacity to store ~ 300,000 samples.
- Genomics: 54gene’s pre-process capabilities include DNA extraction and QC, as well as library preparation. We host a Genomics lab capable of WGS, WES, targeted sequencing, genotyping and molecular diagnostics.
- Diagnostics: Our fully equipped in-house laboratory is able to perform clinical chemistry, microbiology and histopathology diagnostic tests.
- Clinical programs: Through our clinical programs, we have access to over 100 clinicians, principal and secondary investigators. We have collaborated with over 20 tertiary and secondary hospitals across 30 sites.
- Data science: In-house statistical geneticists, data scientists and bioinformaticians and cyber security experts lead our data science capabilities. We have developed a GUI platform to enable exploration of GWAS and PheWAS studies for translational research.
- Translational biology: In-house biologists to carry out target validation and develop company and partnership programs.
Our commitment to Nigeria and Africa surpasses corporate responsibility as we are also focusing on:
- Advancing better health outcomes for all through precision medicine and early diagnosis.
- Addressing the high unmet need for novel therapeutics.
- Increasing ethical genomics research conducted within Africa.
- Ensuring an African footprint for sustainable growth and job creation.
- Building multi-sectoral partnerships for rapid healthcare delivery.
We envisage a world where your location does not determine whether you have access to the right diagnostics or treatment.
Path to Precision Medicine: Insights on equalizing Precision Medicine for the underrepresented African population
By: Nwuba, C., Ibrahim Y., Ebong O., Anyika C., Adewumi O., Johnson B., 54gene Research Team and Popoola O.
In the 21st century with advanced healthcare modalities, molecular research techniques and the advent of pharmacogenomics, new questions of population-specific biological inequality have been highlighted. Efforts to identify clinically relevant genetic variants and associations are increasing. However, data from diverse populations are limited in such efforts, leading to underrepresented populations without access to precision medicine.
Using the African population as a focal point, regardless of being genetically diverse, publicly available data accounts for less than 5% of the global genetic data driving research, in spite of the prevalent genetic diversity on the continent. This is a concern for the future of medicine because understanding genetic diversity within African genomes can lead to better understanding of health as well as treatments of diseases of both African and other populations.
This presentation highlighted how the aid of highly curated phenotypes stored via biobanking could help promote specialised and advanced research projects yielding insight into personalised healthcare for Africans. It also highlighted the potential healthcare benefits that unbiased perspectives on the genetic properties of the African population offers as follows:
- The unique variants of the African genome can be identified via DNA sequencing and genotyping endeavours to influence drug discovery.
- Data generated from these processes will be useful in bridging the gap in health disparity and equalising precision medicine globally.