Experts Seek Mandatory Newborn Screening, Standardised Genotype Testing As Misdiagnosis Fuels Sickle Cell Concerns In Nigeria

Health experts, genetic counsellors and sickle cell advocates have renewed calls for mandatory newborn screening and standardised genotype testing across Nigeria, warning that inaccurate laboratory results and misdiagnosis are worsening the country’s sickle cell disease burden.The stakeholders expressed concern over growing reports of inconsistent genotype test results, which they say have contributed to emotional trauma, broken relationships, delayed treatment and the birth of children with sickle cell disease despite parents previously receiving supposedly compatible genotype results. According to health advocates, Nigeria continues to carry one of the world’s highest burdens of sickle cell disease, with thousands of affected births recorded annually. Experts argue that weak laboratory quality-control systems, outdated testing methods and inadequate regulation have created opportunities for errors in genotype determination. They stressed that a nationwide framework for standardised testing procedures, routine quality assurance and accreditation of laboratories is urgently needed to improve confidence in diagnostic results. Health professionals have also recommended the adoption of more advanced diagnostic technologies and regular proficiency assessments for laboratories conducting genotype screening. The experts further called on government authorities to make newborn screening compulsory, noting that early diagnosis enables timely medical intervention and significantly improves survival and quality of life for children born with sickle cell disease. They argued that many affected children are diagnosed late, reducing opportunities for preventive care and disease management. Advocates also urged stronger public awareness campaigns and expanded access to genetic counselling before marriage and pregnancy. They noted that while genotype testing has become more common in Nigeria, many citizens remain unaware of the limitations of certain testing methods and the importance of confirmatory testing when results are in doubt.In addition, stakeholders called for improved access to healthcare services and the inclusion of comprehensive sickle cell care within health insurance schemes to reduce the financial burden on affected families. The renewed appeals come amid increasing concern over reports of false genotype results and laboratory inconsistencies, issues experts say must be addressed if Nigeria is to reduce the long-term impact of sickle cell disease on individuals, families and the healthcare system. Sickle cell disease is an inherited blood disorder that affects red blood cells and can lead to severe pain episodes, infections, organ complications and premature death if not properly managed. Health experts maintain that accurate genotype testing, newborn screening and genetic counselling remain among the most effective strategies for reducing the disease burden and improving patient outcomes.