Introduction
Ghana is one of the African countries with the high levels of sickle cell disease (SCD). Like most African countries, the capacity of its public health facilities to screen for the illness is limited, and diagnosis is usually made when a severe complication occurs. Early screening of newborns for sickle cell disease can ensure early identification of the disease and linkage to care. However, one study found that only one percent of children were diagnosed with SCD in infancy, while 44% of children with SCD in its sample had been diagnosed by age four (Sims et al, 20211). In addition, most of the diagnoses happen during a pain crisis, suggesting that the country needs to adopt more rigorous screening in infancy. Genomic screening may help the country to more accurately diagnose the illness early in infancy and thus initiate remedial management to improve the children’s health outcomes.
Implementation
While still in its infancy and mostly confined to research settings, genetic health screening using genomics has been introduced in Ghana, to screen newborns for SCD, thereby increasing their access to the right care. The technology involves the use of an individual’s genetic information, specifically their genome, to identify diseases and determine their causes, and to guide medical decisions, treatment, and prevention of diseases.
The sickle cell disease centre at the Komfo Anokye Teaching Hospital in Ghana was launched in 1993, and serves as a comprehensive SCD management centre for newborn sickle cell screening (Paintsil et al, 20222). The centre manages a cohort of newborn patients who have the disease and provides outpatient and inpatient care. Newborns found to have SCD are enrolled at the centre between 2–3 months of age and started on treatment. The centre also maintains a database to help track the newborns right from screening to their enrolment and management at the clinic.
The Ghanaian Genome (GhGenome) project also conducts genetic health screening services and education to communities within the country. It was launched in 2022 as part of the West African Genetic Medicine Centre. It is a largely capacity building project which also conducts public education on genomics and the role of genetics in health and disease.
Policy and Regulatory Framework
Screening for SCD in childhood is included in Ghana’s Child Health Policy. The Ghana Health Service’s Policy and Strategy on Digital Health (2023-2027) also prioritises integrating digital health solutions into health services, to strengthen disease prevention and management. Finally, media reports indicate that in 2024, the Ministry of Health launched a National Sickle Cell Disease Strategy, 2024 -2028, which emphasises the need for early detection of the disease.
Impact
Genomic medicine provides health services with the tools to offer patients more personalised treatment plans for more effective care. In Ghana, the 2022 study by Paintsil et al established that by 2017, about 8,000 infants with SCD had been identified through the newborn genomic screening programme and could thus receive more appropriate care. While not a widespread practice yet in Africa, genomic medicine can transform healthcare significantly when adopted at scale and improve patient outcomes through more accurate and precise diagnosis for a wide range of diseases. It can also lead to new discoveries of conditions and diseases and better treatments.
Conclusion
The successful and widespread application of genomic medicine in African countries will require more investments in the technology and leadership by national governments. There is no doubt that genomic medicine is highly effective and a desirable addition to the clinical practice. To promote its adoption, policy makers should secure resources to establish the research facilities needed to advance studies and integration in healthcare delivery. Individual countries should also set up the appropriate regulatory frameworks and governance mechanisms to support the practice and to safeguard patient welfare. African countries should also draw lessons from other countries where genomics has been fully integrated in general health care.