Foundations of genomic medicine: The evolution of precision health in the era of artificial intelligence and machine learning

The field of genomic medicine has rapidly expanded since the completion of the Human Genome Project nearly 20 years ago, itself a multidisciplinary triumph involving numerous disciplines across basic science and healthcare. Leveraging the wealth of genetic information generated by the project, clinicians and researchers quickly recognized the groundbreaking potential to improve patient care and outcomes through the targeted and early detection of genetic disease. Recent technology and bioinformatics advances have immensely enhanced the ability to interrogate vast amounts of a patient’s genetic data, vastly expanding the scope and scale of genomic medicine. Additionally, artificial intelligence (AI) and machine learning have undergone their own explosive evolution in the last century. Applying machine learning to biology and genetics has revealed insights not previously possible and revolutionized many paradigms within the field. Despite these advances and innovative technological solutions, the integration of AI and machine learning into genomic medicine is still in its infancy; a vast and unexplored frontier of great anticipation and hidden challenges. As the field is on the cusp of its next generation, the question of how best to do this arises, and it is that very discussion which frames this essay. Precision health encompasses a broad subset of emerging innovations, technologies, and proposed healthcare strategies, many intricately linked to the explosion of big data and bioinformatics applications. It may be defined as a more personalized brand of healthcare, typically emphasizing preventative measures to maintain patient health by anticipating future disease burden. Many believe precision health has the potential to revolutionize the healthcare industry, providing higher quality and more effective treatment on an individualized basis. Given the profound and multifarious ways these new technologies interact with the practice and purpose of medicine, there is a natural synergy with the continued evolution of genomic medicine, and here explores how the two fields might converge. As genomic innovations continue to emerge, it is vital genomic medical professionals understand in advance the many potential future challenges and opportunities these technologies represent. This analysis seeks to delve deep into this topic with a broad and incisive perspective, examining the historical milestones of this revolution, considering the current technologies and systems on offer, enquiring at the many ethics and legal arenas still contentious, and finally exploring the developing horizons and necessary collaborations that shall define the future of this field.