Modifying quality and equity of care: emerging roles of genetic disease modifiers in β-hemoglobinopathies

Abstract

Genetic disease modifiers (GDMs) strongly affect disease and therapy outcomes, rendering their characterization essential for prognosis, treatment decisions, and therapy development. A paradigm for the importance of GDMs are β-hemoglobinopathies, for which a growing pipeline of emerging curative and disease-modifying therapies are based on the manipulation of GDMs. However, beyond their role as therapeutic targets, GDMs are also gaining clinical importance in the choice and planning of disease-modifying therapies, the selection and customization of curative therapies, and the equitable provision and global reach of therapies across ethnic groups and geo-economic divides. Here we define roles of GDMs in all four of these fields, highlight their potential to promote choice, effectiveness, affordability, and equitable provision of treatment, and emphasize the importance of capacity building through multiethnic GDM-related research. We conclude that consideration of GDMs at all stages of development and care will be critical to addressing the needs of affected communities.