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World of Genomics: Ghana

The Republic of Ghana, also known as Ghana, is home to diverse wildlife and incredible nature destinations, including the largest waterfall in West Africa. With beautiful sandy beaches, vibrant forests, mountains, caves and lakes, this country is a paradise for nature lovers.

However, one of Ghana’s most renowned features is its people. Famed for their friendliness, Ghanaians perfectly reflect their country’s rich heritage. Indeed, Ghana is a multi-ethnic country, as shown by the fact that approximately eighty languages are spoken by its population.

To this day, the full extent of Ghana’s history isn’t entirely known; it may go as far back as the first humans. For example, the oldest habitation found in Ghana is thought to be from 10,000 BCE.

Even so, observing Ghana’s traditions and visiting the numerous monuments found across this country allows us to glimpse this fascinating culture and history.

The population of Ghana

Situated in the West of Africa, on the coast of the Gulf of Guinea, Ghana is a small but influential Sub-Saharan country. Ghana is bordered by Côte d’Ivoire to the west, Togo to the east, Burkina Faso to the north and the Atlantic Ocean to the south.

Much is still unknown about the history of this country prior the 13th century. However, it is known that modern-day Ghana gained its name from another prominent African empire located 500 miles northwest of modern Ghana. Some people believe that the current population of the Republic of Ghana descended from emigrants of this empire, which could explain why Ghana was named after it. However, this claim is yet to be proved.

Even oral traditions passed down amongst Ghanaians only extend as far back as the end of the empire of Ghana. Evidence shows that the region that is now the Republic of Ghana was an important area of trade wherein two major West African trade streams connected.

In 1417, however, there was a turning point in the history of Ghana with the arrival of Portuguese mariners to this region. From that point forward, direct sea trade with Europe was established, which brought significant changes to those inhabiting this area. With the Europeans came wealth, tools and new ideas and techniques that completely changed Ghana’s society and, thus, impacted the region’s politics and economy.

In the centuries following the arrival of the Portuguese, several European nations tried to claim the trading rights in this area until the British gained control in the 19th century. Finally, in March 1957, led by Kwame Nkrumah, Ghana claimed independence from the British, becoming the first Sub-Saharan country to achieve independence from colonial rule. This ultimately led to the declaration of independence by more than 30 other countries across Africa.

Decades of corruption and mismanagement followed, stunting the development of Ghana, but by the 1990s, political changes started that have steadily helped this country recover and improve socially and economically.

Geographic and demographic information

Summary statistics

  • Land area: 227,533 sq. km (2020)
  • Gross domestic product (GDP):
    • Total: $77.59 billion (2021)
    • Per capita: $2,363.3 (2021)

Population statistics

  • Population size: 32,833,031 (2021)
  • Birth rate: 28 per 1000 people (2020)
  • Death rate: 7 per 1000 people (2020)
  • Infant mortality rate: 33 per 1000 live births (2020)
  • Average Life expectancy: 64 years (2020)
    • Male estimate: 62 years (2020)
    • Female estimate: 66 years (2020)
  • Ethnicities: 45.7% Akan, 18.5% Mole-Dagbani, 12.8% Ewe, 7.1% Ga-Dangme, 6.4% Gurma, 3.2% Guan, 2.7% Grusi, 2% Mande, 1.6% other (2021 estimate)

Healthcare system

The healthcare system in Ghana is divided into five levels – on the first level are health posts that provide primary care in rural areas; on the second level, there are health centres and clinics; on the third level, there are district hospitals, followed by regional hospitals and, finally, by tertiary hospitals.

Most care is provided by the government under the supervision of the Ministry of Health and the Ghana Health Service. However, approximately 2% of healthcare is provided by private clinics.

Given the lack of accessibility to care, in 2003, Ghana introduced the National Health Insurance Scheme (NHIS), becoming the first sub-Saharan country to adopt this strategy. Under Act 852, every Ghanaian is required to adhere to a health insurance scheme; despite this, however, only about 40% of Ghanaians are enrolled in the NHIS.

One of the main reasons for the lack of adherence is poverty, given the NHIS registration fee. While the scheme was introduced to make care financially accessible for all, it ended up only removing some economic barriers, leaving the poorest still excluded. Nevertheless, people under 18 years or over 70 years, pregnant people, Social Security and National Insurance Trust (SSNIT) pensioners and those included in the Livelihood Empowerment Against Poverty program are exempt from the premium payment.

Individuals enrolled in the NHIS typically only pay half of the cost of their healthcare treatments which significantly reduces out-of-pocket expenses. The scheme applies to medical emergency care, out- and in-patient services, maternal care and eye and oral healthcare. Approximately 95% of all diseases in Ghana are covered under the NHIS, including common illnesses like malaria, respiratory tract infections and diarrheal diseases. Other diseases, like cancer, are not covered by this scheme.

A few authors consider that while the introduction of the NHIS has led to higher use of formal healthcare services, the quality of care provided has yet to improve. Indeed, with more people seeking formal healthcare, the pressure on the infrastructure and staff increases, highlighting the system’s issues.

Some of the primary concerns today are geographical inaccessibility to healthcare facilities, longer waiting times, shortage of healthcare personnel, inadequate infrastructures and resources, and limited communityengagement.

Unfortunately, while Ghana spends a relatively high percentage of its GDP on healthcare, the funds allocated are still insufficient, particularly considering the prominent financial management issues in this sector. As a result, Ghana’s increasing healthcare needs are not appropriately met.

Even so, it’s essential to highlight the impact that the NHIS has had so far, leading to higher use of formal healthcare services, promoting efforts towards universal health coverage in Ghana and improving health outcomes.

Health priorities

Throughout the 21st century, the life expectancy of Ghanaians has been steadily increasing. In particular, the introduction of the NHIS and new therapeutics and vaccines, education, environmental and lifestyle changes, increased spending and better management in the healthcare system have contributed to this trend.

At the same time, maternal, infant, and under-5 mortalities have been decreasing steadily, reflecting the success of the policies created to target these areas. A few of the most relevant policies implemented to tackle these are the Ghana Child Health Policy (CHP), the Reproductive, Maternal, Newborn, Child, Adolescent Health and Nutrition (RMNCAHN) Strategic Plan, the Community-based Health Planning and Services (CHPS) programme and the Ghana Essential Health Intervention Project (GEHIP).

The main goals are to increase accessibility to healthcare and improve the quality of care provided, promote essential lifestyle changes, improve the treatment of diseases that significantly impact infants, like cholera, diarrhoea, malaria, and respiratory diseases, and facilitate vaccine administration.

Looking at the general population in Ghana, the leading causes of death include malaria, respiratory tract infections, cardiovascular diseases, HIV and AIDS, tuberculosis, diarrhoeal diseases, and diabetes.

While malaria is considered a preventable and curable disease, it remains a significant public health concern in this country, wherein approximately 2.1% of global malaria cases occur. Several strategies have been implemented to help tackle its spread, including intermittent preventive treatment in pregnancy. So far, data indicates that Ghana is making significant progress in controlling this disease.

Regarding HIV, the Ghana AIDS Commission estimates that over 346,000 people in Ghana live with HIV, and only 71% know their HIV status. As a response, Ghana has created a National HIV and AIDS plan that aims to eliminate mother-to-child transmission of HIV and to reduce new infections and AIDS deaths by 85% by 2025 by increasing accessibility to prevention, testing and treatment services.

Control of tuberculosis also remains a priority in Ghana. As part of this, the National Tuberculosis Control Programme was created, focusing on education, improved supply of medications, surveillance, and training of health personnel.

So far, public health initiatives in Ghana have focused on infectious diseases. However, as the population grows and ages, urbanisation increases and more sedentary lifestyles are adopted, non-communicable disease rates are quickly increasing, straining the healthcare system even further. Today, these diseases are estimated to account for more than 86,000 deaths per year in Ghana.

Amongst the main concerns are hypertension and other cardiovascular diseases, chronic respiratory conditions, cancer, diabetes and obesity. Hypertension, for example, affects approximately 1 in 4 Ghanaians.

Unfortunately, research and health initiatives focused on non-communicable diseases and areas like mental health are still underserved as infectious diseases remain the primary focal point.

Genomic medicine capabilities

Looking at genomic medicine, research in this area and, consequently, application into the practice of genetics is still limited in Ghana. Nevertheless, more development continues to be made in this field, and as Ghana grows, we can hope that more resources and funding will be allocated towards genomic medicine.

As highlighted by several authors, medical research, especially in the field of genomics, lacks diversity, which profoundly impacts its outputs and, consequently, the patients that are not adequately represented. For example, whole genome sequencing studies have shown that the African pan-genome includes approximately 10% more DNA than the human reference genome currently used.

The genetic basis of certain diseases, like cancer, can vary significantly between individuals of different ancestries, meaning that the therapeutics created through these studies, which are tested in primarily European and American populations, may not work in the same way for African patients.

To better understand the foundation behind certain illnesses and conditions that affect Ghanaians and find better treatments, there needs to be more investment made into research in Ghana.

In 2019, for instance, there were only 109 active African oncology trials; of these, only two were registered in Ghana. Meanwhile, in the United States, there were 7557 active trials registered in 2021 on one of several clinical trial platforms alone. The reasons for this discrepancy go back to many of the issues currently faced by the healthcare system in Ghana – inadequate funding, lack of appropriate infrastructures and resources and shortage of trained healthcare workers.

As expected, this reflects on clinical practice wherein genomic medicine capabilities are still limited, especially in the public sector. Whereas the private sector offers more services in this area, in the public healthcare sector, molecular and genetic profiling isn’t routinely applied in clinical practice and is significantly limited in scope.

Looking at cancer, for example, in Ghana, genetic profiling is only available for some types of cancer, such as breast cancer. Even in cases such as this, genetic testing is not typically offered, given a lack of funds, resources and trained staff. In the event that these tests are requested, they are often sent to laboratories outside of Ghana, which is associated with a high cost and thus not often opted for.

With more investment in this area, it would be possible to apply genomics to enhance the prevention, diagnosis, and treatment of several conditions with a genetic component, from cancer to cardiovascular disease and sickle cell disease, therefore improving patient outcomes.

Similarly, genetic testing is also limited in Ghana with regard to prenatal and newborn screening. Indeed, karyotyping and other forms of genetic testing aren’t routinely available to Ghanaians in the public healthcare sector. There is, however, hope that this may change, given the success of the newborn screening program for sickle cell disease (SCD) implemented in this country.

The first of its kind in sub-Saharan Africa, the program began in 1993 in Kumasi and, since 2010, has become a national program. By 2018, the program had already allowed nearly 500,000 babies to be tested, leading to a diagnosis of SCD for approximately 1.7% of them. Given that this is a significant health concern in Ghana, an early diagnosis of sickle cell disease is essential to ensure that the affected infants receive the care necessary to reduce the risk of morbidity and mortality. While there is still a lack of healthcare workers trained in genetics and genetic counselling, this program has helped establish a training program that will hopefully help tackle this issue.

Finally, during the COVID-19 pandemic, several improvements were made regarding infrastructure, staff and resources for molecular testing. The same principles can be applied to other major infectious diseases of public health concern in Ghana, such as tuberculosis.

Whole-genome sequencing can be helpful in routine care settings not only to diagnose infections but also to identify the specific species causing the infection, determine drug resistance and assist in epidemiological investigations.

Hopefully, after the end of the pandemic, Ghana will continue to invest in this field, allowing for further expansion of the genomic capabilities in the public healthcare sector.

Notable projects

  • GhGenome – launched in 2022 by the West African Genetic Medicine Centre, the Ghanaian Genome (GhGenome) project aims to improve access to genetic medicine in Ghana by enhancing the genomic capacity in the country. To this end, the GhGenome sets out to educate Ghanaians on the role of genetics in health and disease, raise awareness of several genetic disorders, promote genetic testing and help improve access to genetic services across the country.
  • SickleGenAfrica – funded by the National Institute of Health (NIH), SickeGenAfrica is an international project led by Professor Solomon Fiifi Ofori-Acquah that focuses on the genetic basis of sickle cell disease in African populations. A series of African scientists and other international collaborators are part of the SickleGenAfrica Network, working together to discover the genetic factors and mechanisms behind sickle cell disease progression and, consequently, develop more effective therapeutics.
  • Three Million African Genomes (3MAG) project – set up in 2021 by Dr Ambroise Wonkam, the 3MAG project aims to sequence the genome of 3 million African people so as to build a representative human reference genome and a pan-African biobank for research and clinical use. The need for this project arises from the lack of representation of African people in other sequencing projects, which, in turn, leads to many research outputs (such as new drugs) not being of use in African populations.
  • MalariaGEN – coordinated by the Wellcome Sanger Institute, MalariaGen is a global network of researchers working to understand how genetic variations in humans, malaria parasites and the mosquitoes that transmit them affect the transmission of this disease. The data obtained across the genomic studies developed is then used to understand disease patterns and develop better treatments, vaccines and insecticides. MalariaGen counts with more than 200 partners across 40 countries, including Ghana.

Notable organisations and companies

  • West African Genetic Medicine Centre (WAGMC) – Founded in 2019 at the University of Ghana, the WAGMC was created to enhance the research efforts explicitly related to sickle cell disease and other genetic disorders. In addition, the WAGMC offers new educational programmes and conducts innovative research in the field of genetics. The main goals are to tackle the lack of healthcare workers trained in genomic medicine and make genetic testing more accessible in the region.
  • Human Heredity and Health in Africa (H3Africa) consortium – the H3Africa consortium was created to facilitate collaboration between African researchers and, consequently, help advance research in the field of genomic sciences. Further, H3Africa is focused on helping to develop the infrastructure, resources and training needed to support this research. This initiative includes 51 projects dedicated to population-based genomic studies of non-communicable and infectious diseases.
  • Ghana Institute of Clinical Genetics – Founded in 1974, the Ghana Institute of Clinical Genetics aims to provide care to adolescents and adults with sickle cell disease, both local and international. The institute offers outpatient clinical care, laboratory services, genetic counselling and health education. Further, the Ghana Institute of Clinical Genetics is also involved in research in the genomics field.

Notable individuals

  • Professor Solomon Fiifi Ofori-Acquah – Prof. Ofori-Acquah is a renowned haematology researcher focused on the acute complications of sickle cell disease and genomics. Currently, he works as Dean of the School of Biomedical and Allied Health Sciences at the University of Ghana, as well as an Associate Professor of Medicine and Human Genetics and Director of the Centre for Translational and International Haematology at the University of Pittsburgh. Further, he is the Centre Leader of the WAGMC and, Director and Principal Investigator of SickleGenAfrica. Amongst his achievements, Prof. Ofori-Acquah created the first mouse model for acute chest syndrome, which is still used to find therapeutic options for this syndrome.
  • Dr Kwaku Ohene-Frempong – Dr Ohene-Frempong was a paediatric haematologist and oncologist and a renowned expert in sickle cell disease. He worked at the Children’s Hospital of Philadelphia, where he founded the Comprehensive Sickle Cell Centre. He led the Cooperative Study of Sickle Cell Disease, wherein it was found that SCD could cause blockages in the brain’s blood vessels, triggering strokes among children with this disease. These findings enabled other scientists to predict which children were at higher risk and to discover how to prevent them from having strokes. In Ghana, Dr Ohene-Frempong created an innovative pilot program that provided newborn screening for SCD, which became the foundation for the current national SCD screening programme in Ghana.
  • Dr Kwaku Poku Asante – Dr Asante is a medical doctor and clinical epidemiologist with expertise in the epidemiology of childhood diseases such as malaria and respiratory infections. For 8 years, he worked as Head of Malaria Research at the Kintampo Health Research Centre and is now Director of the centre. Throughout more than 20 years of work in public health research, Dr Asante has conducted several interventions and epidemiological studies in relation to various tropical diseases, which have led to significant changes in the health policy in Ghana and other developing countries.

The future genomics landscape

As discussed previously, research in the field of human genetics and genomics and, consequently, its application into practice in Ghana is still very limited. At the heart of this issue is a lack of adequate infrastructure, resources and trained staff.

With more investment, however, there is immense potential for what researchers can explore in this area, particularly considering the current lack of diversity in clinical genomic studies and the growing need for better prevention, diagnostic and treatment options to tackle the major health issues in Ghana. Both concerning infectious diseases, such as malaria, tuberculosis or respiratory infections, and non-communicable diseases, like obesity and cardiovascular diseases, genomics would be a beneficial area to invest in to combat disease and improve public health in Ghana.

As Ghana continues to develop and grow, we can hope that more resources and funding will be allocated towards genomic medicine. A good indication of this is the recent investment into new projects such as the GhGenome, SickeGenAfrica and 3MAG initiatives which focus on promoting collaboration between African researchers and producing further research in the field of human genomics, specifically in Ghana and other African countries.

Along with the rising success of the newborn screening program for sickle cell disease in Ghana and the series of improvements made in regard to infrastructure, staff and resources for molecular testing during the COVID-19 pandemic, it seems likely that Ghana will continue to invest in genomics.


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