Publications

Sickle cell disease (SCD) is a monogenic hematologic disorder that causes significant morbidity and mortality worldwide, disproportionately affecting populations of African, Indian, Middle Eastern, and Mediterranean ancestry. Whole-exome sequencing (WES) offers a precision public health approach by identifying both primary HBB mutations and modifier genes that influence disease severity, clinical complications, and therapeutic response. This paper synthesizes the evidence supporting WES for SCD, explores equity considerations in genomics implementation, and examines challenges in translating bench discoveries to population-level interventions. Key barriers include infrastructural limitations, workforce capacity, regulatory compliance, and the underrepresentation of marginalized populations in genomic studies. Case studies from Quebec, Australia, and Nordic countries highlight strategies for successful implementation, including integration with public health priorities, cross-sector collaboration, and data governance. Future research should focus on understanding genetic modifiers across diverse populations, evaluating intervention efficacy, and ensuring equitable access to genomicsinformed care. By aligning precision medicine with public health objectives, WES has the potential to reduce disease burden, improve health equity, and inform scalable interventions for SCD globally.