The Evolving Role of Artificial Intelligence in Medical Genetics: Advancing Healthcare, Research, and Biosafety Management

TL;DR

Artificial intelligence is transforming medical genetics by improving diagnostics, personalizing medicine, and accelerating drug discovery, while also raising ethical and biosecurity concerns.

Contribution

This paper reviews the integration of AI in medical genetics and proposes governance strategies to responsibly harness its potential.

Findings

AI enhances diagnostic precision and enables non-invasive molecular profiling through imaging-genetics.

AI accelerates therapeutic design, drug discovery, and precision gene editing.

Ethical and biosecurity challenges, such as data privacy and algorithmic bias, must be addressed for responsible AI use.

Abstract

The integration of artificial intelligence (AI) with medical genetics is transforming healthcare by addressing the analytical challenges posed by the vast complexity of multi-omics data. This review explores the synergistic convergence of these fields, highlighting AI’s transformative role in enhancing diagnostic precision, enabling non-invasive molecular profiling through imaging-genetics, and advancing predictive and personalized medicine via polygenic risk scores and pharmacogenomics. AI is also emerging as a powerful generative tool in therapeutic design, accelerating drug discovery, protein engineering, and precision gene editing. However, this powerful synergy introduces significant ethical, regulatory, and biosecurity challenges, including data privacy, algorithmic bias, and the dual-use risks of AI-enabled genetic engineering. The future envisions a responsible co-evolution, with multimodal AI and the concept of the Digital Twin driving precision medicine, underpinned by interdisciplinary collaboration to ensure fairness, transparency, and societal trust. This article charts the current landscape and proposes actionable directions, emphasizing the need for robust governance to harness AI’s potential while mitigating its risks for the benefit of human health.

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