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Impact of Sickle Cell Counselling Education on Genetic Testing Knowledge among Young Adults in Nigeria

Abstract

Sickle cell disease is an important inherited blood disorder and public health concern in Nigeria, where individuals and families may face substantial health, social, and economic challenges associated with the condition. Sickle cell disease results from inherited changes affecting haemoglobin, and individuals who carry a sickle haemoglobin variant may transmit it to their children. Young adults may have limited knowledge of sickle cell inheritance, genotype status, genetic testing, carrier status, reproductive implications, and the importance of obtaining accurate information before making reproductive decisions. Misconceptions, stigma, limited access to counselling, financial barriers, and reliance on informal sources of health information may further affect knowledge and utilization of genetic testing services. Sickle cell counselling education provides an opportunity to improve young adults' understanding of sickle cell inheritance, genotype testing, interpretation of results, genetic risk, and appropriate counselling services. Against this background, this study investigates the impact of sickle cell counselling education on genetic testing knowledge among young adults in Nigeria. The study will be anchored on the Health Belief Model, Health Literacy Theory, and Social Cognitive Theory. The Health Belief Model explains how young adults' perceptions of susceptibility to sickle cell disease, perceived severity, perceived benefits of genetic testing and counselling, perceived barriers, self-efficacy, and cues to action may influence their knowledge and health-related decisions. Health Literacy Theory emphasizes young adults' ability to obtain, understand, evaluate, and apply accurate information concerning sickle cell inheritance, genotype testing, carrier status, and reproductive health. Social Cognitive Theory emphasizes observational learning, professional guidance, self-efficacy, social support, reinforcement, and environmental influences in shaping young adults' understanding of genetic testing. Collectively, these theoretical perspectives provide a suitable framework for explaining how sickle cell counselling education may influence genetic testing knowledge among young adults in Nigeria. The study will adopt a quantitative quasi-experimental or analytical cross-sectional research design. The study population will comprise young adults aged 18–35 years residing in selected urban, semi-urban, and rural communities across Nigeria. A multistage sampling technique will be used to select geopolitical zones, states, local government areas, communities, households, universities, workplaces, and eligible young adults. Sickle cell counselling education will be assessed using indicators such as exposure to counselling sessions, frequency and duration of education, information about sickle cell disease and trait, haemoglobin genotypes, inheritance patterns, carrier status, genetic testing methods, interpretation of genotype results, reproductive implications, premarital and preconception counselling, available healthcare services, misconceptions, stigma, confidentiality, informed consent, and appropriate sources of genetic-health information. Genetic testing knowledge will be assessed using indicators such as understanding of sickle cell inheritance, awareness of genotype testing, knowledge of carrier status, ability to distinguish common haemoglobin genotypes, understanding of the meaning and limitations of genotype results, awareness of when genetic testing may be appropriate, knowledge of genetic counselling, understanding of reproductive implications, and ability to identify reliable sources of information and appropriate testing services. Data will be collected using structured questionnaires, standardized sickle cell and genetic-testing knowledge assessment tools, scenario-based questions, counselling or health-service records where ethically and practically accessible, and pre-test and post-test assessments where a quasi-experimental intervention is adopted. Descriptive statistics will be used to summarize participants' demographic and socioeconomic characteristics, previous exposure to sickle cell information, sources of information, awareness levels, and genetic testing knowledge. Inferential statistical techniques, including chi-square tests, paired and independent t-tests, correlation analysis, and logistic or multiple regression analysis where appropriate, will be used to determine the impact of sickle cell counselling education on genetic testing knowledge. Where a quasi-experimental design is adopted, genetic-testing knowledge scores before and after the educational intervention may be compared with those of a comparison group to determine changes associated with the intervention. Diagnostic tests will also be conducted to assess the reliability, validity, and robustness of the findings. The study is expected to find that sickle cell counselling education has a significant positive impact on genetic testing knowledge among young adults in Nigeria. Young adults exposed to structured, evidence-based, culturally sensitive, and professionally delivered sickle cell counselling education are expected to demonstrate greater knowledge of sickle cell inheritance, genotype testing, carrier status, interpretation of results, and reproductive implications than young adults without comparable exposure. Education may correct misconceptions about sickle cell disease and trait, improve understanding of the importance of knowing one's genotype, and increase awareness of appropriate genetic counselling and testing services. It may also help young adults distinguish accurate genetic information from myths, stigma, and misinformation obtained through peers, social media, or other informal sources. Improved knowledge may support informed decisions about seeking genetic counselling and testing, particularly during preconception and reproductive planning. However, financial constraints, limited availability of genetic-testing services, fear of results, stigma, misinformation, cultural beliefs, concerns about confidentiality, and inadequate access to qualified counsellors may reduce the effectiveness of education alone. The study therefore expects accessible, confidential, evidence-based, culturally appropriate, and sustained sickle cell counselling education to contribute significantly to improved genetic testing knowledge among young adults in Nigeria. The study is expected to contribute to the literature on sickle cell disease, sickle cell trait, genetic counselling, genetic testing, reproductive health, genetic health literacy, inherited blood disorders, health education, youth health, and public health in Nigeria. The findings will provide useful information to the Federal Ministry of Health and Social Welfare, National Primary Health Care Development Agency, state ministries of health, hospitals, sickle cell centres, genetic counselling services, laboratories, universities, healthcare professionals, public health practitioners, community health workers, development partners, and policymakers regarding strategies for improving genetic-health knowledge among young adults. The study will also provide evidence-based recommendations for integrating sickle cell counselling education into youth-friendly and reproductive-health services, improving access to reliable genotype and genetic-testing information, strengthening genetic counselling capacity, addressing stigma and misconceptions, promoting appropriate preconception counselling, improving referral pathways to testing services, and developing sustainable educational programmes that support informed genetic-health decisions among young adults across Nigeria.

Keywords: Sickle cell counselling education, genetic testing knowledge, sickle cell disease, sickle cell trait, young adults, haemoglobin genotype, genetic counselling, genetic health literacy, reproductive health, health education, Nigeria, public health.