Charting the future of clinical genomics: an implementation science lens.

Abstract

The integration of genomics into routine healthcare is transforming clinical practice and public health, yet its implementation remains fragmented and uneven across global contexts. With over 65 international initiatives advancing personalized medicine, the need for systematic and collaborative approaches to implementation has never been more urgent. This special issue brings together contemporary research at the intersection of clinical genomics and implementation science, highlighting innovative strategies, methodological advancements, and equity-focused practices. Through diverse case studies - from newborn screening and cancer genomics to population-level programs - contributors explore individual, organizational, and systems-level approaches to embedding genomics in healthcare. Key themes include the role of co-design in enhancing informed decision-making, the development of theory-informed toolkits for service optimization, and the importance of standardizing implementation outcomes to improve scalability and sustainability. A critical focus on equity, authenticity, and trust underscores the imperative to ensure genomic advances do not exacerbate existing disparities. Studies emphasize community engagement, decentralization of expertise, and consumer co-creation as foundational to ethical and effective implementation. Despite a growing body of literature, evidence remains scattered across hundreds of journals, complicating access and synthesis. This issue advocates for a centralized repository to curate and advance the field. By showcasing real-world successes and challenges, this collection aims to accelerate the translation of genomic innovation into inclusive, impactful healthcare solutions.