Public health messaging in Nigeria has long encouraged individuals to know their genotype as a key step in preventing sickle cell disorder.
However, emerging evidence suggests that awareness alone has not translated into accurate understanding or informed reproductive decisions.
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A 2020 cross-sectional study on genotype awareness among adolescents in south-east Nigeria found that although 94 per cent of respondents knew their genotype, nearly 90 per cent could not correctly estimate the risk of having a child with sickle cell disorder in a carrier couple.
The study also reported that only a small proportion demonstrated high-level knowledge of sickle cell genetics, highlighting a gap between awareness and comprehension.
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Genotype, which refers to the genetic makeup of an individual, describes the combination of haemoglobin genes inherited from both parents.
These combinations, AA, AS, SS, AC, and SC, not only determine an individual’s health status but also the potential risks to their future children.
Despite this, Tajudeen Olatunbosun, a family physician and public health expert at Honesty Medical Centre, Osogbo, told PT Health Watch that the challenge lies not just in awareness, but in gaps in understanding, counselling, and systemic support.
Awareness without understanding
Mr Olatunbosun said many Nigerians know their genotype but only as a label, without fully grasping the implications, particularly in combinations such as AS–AS.
He explained that optimism bias often shapes decisions, with individuals believing adverse outcomes will not affect them, especially when they know couples with similar genotypes who have healthy children.
This is further complicated by incomplete or inaccurate information, including the belief that medical interventions can prevent sickle cell disorder in high-risk unions.
Emotional investment also plays a role, he added, noting that genotype discussions often happen when relationships are already advanced, making it psychologically difficult to reconsider.
In some cases, people defer responsibility to faith, believing outcomes are entirely in divine hands rather than a mix of faith and informed decision-making.
Gaps in testing and counselling
Although pre-marital genotype testing is widely encouraged, Mr Olatunbosun identified critical gaps in how these tests are conducted and communicated.
He noted that not all laboratories operate with the same level of diagnostic accuracy, pointing to a lack of standardisation and quality assurance.
More importantly, he said testing is often done without proper counselling.
“People are given results without a structured explanation of what those results mean for marriage and reproduction,” he said.
He added that genotype testing is rarely integrated into a broader continuum of care, where it should ideally be linked with genetic counselling services.
This gap, he noted, is more pronounced outside urban centres.
Awareness, changed behaviour
Nigeria continues to record a high number of people living with sickle cell disorder despite years of awareness campaigns.
Mr Olatunbosun said this reflects a gap between visibility and actual behaviour change.
According to him, most messaging focuses on knowing one’s genotype but does not address the complex social, emotional, and economic realities that influence decisions.
He added that education efforts are often one-directional and rarely reinforced at critical stages such as adolescence, early relationships, or pre-marital counselling.
Lesser-known genotypes, lingering misconceptions
Mr Olatunbosun said public conversations often overlook other clinically significant genotype variations such as AC and SC.
He explained that individuals with SC genotype, though often perceived as having milder symptoms, can still experience serious complications.
He also addressed misconceptions around AS, noting that while it is generally asymptomatic, it is not entirely harmless.
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“AS can have health implications under extreme conditions and carries reproductive risks when paired with another carrier,” he said.
He further highlighted confusion between genotype and blood group among some individuals, describing it as a reflection of gaps in basic health literacy.
System-level reforms
Mr Olatunbosun called for a shift from individual responsibility to stronger system-level interventions.
He recommended integrating genotype screening into routine healthcare, including school health programmes and primary care services, alongside improved quality control in laboratories.
He also stressed the need to expand access to genetic counselling, describing testing without counselling as incomplete care.
In addition, he urged public health messaging to move beyond simple awareness towards more targeted and culturally sensitive communication that supports informed decision-making.
He said policy frameworks should prioritise early education, subsidised testing, and structured pre-marital counselling services.
Addressing genotype-related health risks effectively, he added, will require coordinated efforts across healthcare, education, and community systems, rather than isolated campaigns.
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