The potential of pharmacogenomics (PGx) to positively impact health outcomes and quality of healthcare is well-established. However, the application of available evidence into clinical practice is still limited due to limited knowledge among healthcare professionals, including pharmacists. As a start towards building capacity for PGx education, we assessed knowledge, attitudes, and perceptions about PGx among practising pharmacists and pharmacy students. A cross-sectional study was conducted among pharmacists and undergraduate pharmacy students selected using a convenient sampling method—a 37-question survey instrument was used to obtain information regarding PGx among the participants. Out of a total of 131 participants, 56% of respondents showed fair-to-good PGx knowledge. Respondents’ self-reported assessment indicated that 88% had average and above knowledge scores in PGx. Practising pharmacists in Zimbabwe have positive attitudes towards PGx and would support its application to improve treatments. However, there were concerns about security and discrimination when genomics data is used by those who do not understand its meaning. Participants agreed that they would play a leading role in PGx testing if provided with appropriate training. The interest in PGx is challenged by their limited knowledge and understanding of genetics, suggesting a need to update curricula for pharmacy students and for continuing health education programmes.

The potential of genomic medicine in improving the quality of healthcare both at population and individual-level is well-recognized globally. However, successful adoption of genetic and genomic evidence into clinical practice depends on training the healthcare workforce and clinical researchers in genomic medicine. Due to limited expertise in the medical genetics and genomics field, widespread uptake largely depends on task-shifting for the implementation of genomic medicine implementation to key healthcare professionals such as nurses. Their knowledge would be developed through courses aimed at professional development. Globally, trainers, and training initiatives in genomic medicine are in early stages of development, but resource limited settings such as the African continent face additional logistical and institutional challenges. The African Genomic Medicine Training (AGMT) Initiative was conceived during a combined conference of the African Society of Human Genetics (AfSHG) and the Human Heredity and Health in Africa Consortium (H3Africa) in 2016, Senegal, in response to the needs for developing knowledge and skills in genomic medicine. AGMT was established to implement a sustainable genomic medicine training initiative primarily for healthcare professionals who are not geneticists but are nurses, doctors, and pharmacists in Africa. This paper reports on the establishment of the AGMT initiative and the strategies developed and piloted by this initiative in designing and implementing an accredited frame-work and community-based blended learning course for nurses across 11 African countries. The global implementation experiences, outcomes and lessons learnt are highlighted. The AGMT initiative strategy takes advantage of existing research consortia and networks to train and create a pool of trainers and has adopted evidence-based approaches to guide curriculum and content development/adaptation. This initiative established the first Africa-wide online blended learning genomic medicine course which forms the basis from which to develop courses for other healthcare professionals and the wider public.

Hearing impairment (HI) is a common sensory disorder that is defined as the partial or complete inability to detect sound in one or both ears. This diverse pathology is associated with a myriad of phenotypic expressions and can be non-syndromic or syndromic. HI can be caused by various genetic, environmental, and/or unknown factors. Some ontologies capture some HI forms, phenotypes, and syndromes, but there is no comprehensive knowledge portal which includes aspects specific to the HI disease state. This hampers inter-study comparability, integration, and interoperability within and across disciplines. This work describes the HI Ontology (HIO) that was developed based on the Sickle Cell Disease Ontology (SCDO) model. This is a collaboratively developed resource built around the ‘Hearing Impairment’ concept by a group of experts in different aspects of HI and ontologies. HIO is the first comprehensive, standardized, hierarchical, and logical representation of existing HI knowledge. HIO allows researchers and clinicians alike to readily access standardized HI-related knowledge in a single location and promotes collaborations and HI information sharing, including epidemiological, socio-environmental, biomedical, genetic, and phenotypic information. Furthermore, this ontology illustrates the adaptability of the SCDO framework for use in developing a disease-specific ontology.

This study describes the roles of laboratory information management systems (LIMS) in multi-site genetics studies in Africa. We used the HiGeneS Africa project as a case study. The study participants were recruited in six African countries between 2019 to 2021. The Baobab LIMS, a server–client-based system (an African-led innovation) was used for the coordination of the biospecimen. The development phase of the LIMS showcased the team formation, data collection, biospecimen collection, and shipment strategies. The implementation phase showcased the biospecimen registration, processing, and quality control (QC) analytics. The sample QC was done using Nanodrop, Qubit, and PicoGreen/gDNATapestation assays. The results showed that a total of 3144 study participants were recruited from Cameroon, Ghana, Mali, Rwanda, Senegal, and South Africa. The biospecimen registration provided a comprehensive registry that included patient demographics, genetic information, and clinical and blood/saliva samples from the proband and family relatives. The QC analyzes identified 30 samples that failed QC, linked to overdue storage in the freezer before DNA extraction. The LIMS components implemented in this project formed a structure that can be upscaled to artificial intelligence-based LIMS. In conclusion, this study represents the largest and the most diverse collection of biospecimens for the genetic study of hearing impairment in Africa to date. A well-characterized LIMS should be recommended for multi-site molecular studies, particularly in Africa, to enhance African participation in global genomic medicine.

Background Sickle cell disease (SCD) is a prevalent inherited blood disorder. Globally, approximately 515 000 babies are born with SCD annually, with 75% of these births occurring in Africa. Integrating newborn screening (NBS) for SCD into primary healthcare structures, such as immunisation programmes, holds significant promise, with dried blood spots (DBS)-point-of-care technologies (POCT) like HaemoTypeSC offering cost-effective screening solutions. However, scaling up DBS-POCT for NBS of SCD in Africa remains challenging. Objective This study aims to explore individual, organisational and external factors that may influence the reliability, feasibility, acceptability, adoption and sustainability of using DBS-POCT with HaemoTypeSC for NBS of SCD at primary healthcare centres in African countries. Method This qualitative study will be conducted in seven African countries that are part of the SickleInAfrica consortium sites. The study design is informed by the Consolidated Framework for Implementation Research (CFIR) and the Implementation Outcome Model. Participants will be mothers whose babies have been diagnosed with SCD, healthcare professionals and policy-makers. In-depth interviews and focus group discussions will be used for data collection. Data analysis will be through thematic analysis. Ethics and dissemination Research ethics approvals have been obtained from the seven countries. Written informed consent will be obtained from all participants. The study results will be disseminated in peer-reviewed scientific journals, scientific conferences, reports to national ministries of public health and webinars.

Introduction: Sickle cell disease (SCD) is most prevalent in Sub‐Saharan Africa (SSA), where incomplete patient profiles and limited management strategies hinder research and healthcare standards.Methods: We describe the first large‐scale and multinational assessment of 13,403 SCD patients enrolled from 2017–2021 across 31 facilities in Ghana, Nigeria, and Tanzania into the SickleInAfrica consortium registry. We used hierarchical regression models to estimate and analyze the demographics, adoption levels of SCD diagnosis and therapies.Results: The average age at diagnosis was 3 months, 19 months and 3 years in Ghana, Nigeria and Tanzania respectively, reflecting differences in country‐specific newborn screening programs and policies. Hydroxyurea (HU) use was highest in Ghana (21%), followed by Nigeria (12%) and Tanzania (6%), with significant variability across facilities. Sex differences in SCD management were observed, with males more likely to receive HU and blood transfusions. At the consortium level, HU initiation correlated with enrolment age rather than age at diagnosis, highlighting the need for earlier intervention.Conclusions: Our findings highlight the potential of the SickleInAfrica registry toward enhancing understanding of regional disparities in SCD care and potential gender inequalities, emphasizing the need for enabling policies toward strengthened SCD research and improved quality of life and care of patients in Africa.