January 9, 2023

Unlocking the Power of the Human Genome

Shailja Sharma

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Following the COVID-19 pandemic, genomics emerged as an essential public health sector tool. Genomics provided evidence of when and where an outbreak began and allowed changes in the circulating virus to be monitored. It provided crucial info to aid in identifying diagnostic and therapeutic targets. However, the utility of genomics goes beyond pathogen identification and surveillance.

Genomic medicine has the capacity to revolutionise healthcare globally by focusing on healthcare at an individual level. Precision medicine can help an individual to obtain a prompt and accurate diagnosis, assess level of risk, and receive a personalized treatment plan. This can improve patient outcomes, minimize wastage of drugs and the risk of experiencing adverse effects.

Furthermore, individual-level characteristics such as genetics, lifestyle, and environmental factors can be factored into medical treatment and prevention strategies to ensure an individual gets the right care at the right time. “One size fits all” approaches have had disastrous consequences for people. Human beings are unique and what works for one person may not work for another. Precise interventions can also extend to efforts to improve health at the population level by scaling precision medicine initiatives and translation of basic-science discoveries to the population level.

Precision Medicine

Precision public health is an approach that integrates precision and population-based strategies to provide “the right intervention to the right population at the right time.” Multi-level risk factors and their impact in population health can be identified with this approach. Incorporation of human genomics into precision public health initiatives can improve health at both the individual and population level.

Precision medicine in developed countries is enabled by robust research and health infrastructures, data analyst capacity and health care professions skilled in genomic medicine. Pharmacogenetics offers personalization of care by advocating for the “the right drug, the right dose, right patient” approach. In fact, if a physician has the pharmacogenetics profile of an individual, it can change the entire treatment profile. This approach can minimize adverse drug effects, time missed from work due to drug-related issues or treatment inefficacy and prolonged illness.

Lack of Data on African Populations

Africa carries the highest burden of both infectious and noncommunicable diseases on earth and at the same time, hosts the greatest genetic diversity within its populations. Tuberculosis, HIV, and malaria dominate both in number of cases and research focus for infectious diseases, but the high burden of noncommunicable diseases such as diabetes and cardiovascular diseases, among others also needs attention.

Unfortunately, while extensive research has been carried out on these diseases in European populations, there is a scarcity of data and research on African populations. A recent analysis of data in the Genome Wide Association Study Catalog showed that less than 10% of the data comes from African populations. For precision medicine to become a reality in Africa, more research and data that is applicable to indigenous populations is needed. Using data from non-African populations for diagnosis could result in African individuals mistakenly considered to have a disease risk variant. Currently, most medicines are created based on data from Caucasian populations.

Building Infrastructure and Resources

Preparation for the implementation of precision medicine in Africa will require several resources to be in place, including access to reference population data, extensive research on specific diseases in individual populations, skills in genomic data analysis and interpretation, and basic research and clinical infrastructure for carrying out research and routine genetics testing.

Currently, in most African institutions, particularly from low-income countries, research infrastructure is poor and the number of trained scientists is inadequate. There are however, successful research networks that have been developed in Africa such as the Wellcome Trust DELTAS program, the GSK Africa OpenLab and the Human Heredity and Health in Africa (H3Africa) initiatives. Partnerships like these accelerate the adoption of innovation. Public private partnership support is critical to scale this up further.

Building a Sustainable Genomics Ecosystem

Although great strides have been made in genomics research there is need for further investment. Governments need to understand the benefits of genomics and view it as not only a ‘science of the future’ but as means to accelerate healthcare gains that will advance the achievement of SDG targets. Research cannot be neglected as far as financing is concerned if Kenya and other sub-Saharan countries are serious about devising innovative solutions to emerging issues in healthcare. Policymakers need to understand the investment case for genomics and governments need to create an enabling policy environment.

Currently, samples are collected from sub-Saharan countries and sent abroad. In some cases, African populations do not fully benefit from these studies. The issue of data ownership is also a controversial issue. Sub-Saharan countries need to invest in data utilization and storage. Developing Africa-Africa policies for data sharing across the continent could accelerate research and development in genomics.

Furthermore, strategies to maximize the benefits of genomics should encourage good data management and sharing to forge national and international cooperation. Enabling legal frameworks will also pave the way for the power of genomics to be harnessed. The COVID-19 pandemic has highlighted the need for African governments to develop self-dependency and develop their own infrastructure. Governments around the world engaged in protecting their own populations during the pandemic which should serve as a ‘wake-up call’ for countries that are not investing in their own health systems. What is the cost of inaction? The world is moving towards adoption of precision medicine. Researchers, policy makers, industry partners, public health experts, and civil society groups all need to work together to champion innovation and research in the health-sector.

Towards the end of 2022, Strathmore University Business School (SBS) hosted the Annual Health Summit where cutting-edge topics such as genomics and precision medicine were discussed by panels of experts in more detail, you can access the recording here

Article by Shailja Sharma, SBS Faculty Member and Leadership and Career Coach

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