Digit-all: Rare Diseases

Abstract

Rare diseases are increasingly recognised as a global public health priority and contribute to significant and disproportionately high health system impacts. Accordingly, they present clinical and public health challenges, as well as opportunities for digital health solutions across the lifespan, including improved diagnosis, treatment, navigation and care coordination, and integration and coordination for broader societal and patient wellbeing. People living with rare diseases, individually and cumulatively, are digital disruptors. In this manuscript the authors describe some of the unique dynamics of the rare disease domain as they currently, or have the potential to in the future, apply to digital health; highlight some recent international rare diseases digital health initiatives; and touch upon implications for those with more common disorders.

Keywords

• digital health
• phenotyping
• precision medicine
• precision public health
• rare diseases
• undiagnosed diseases