Use of AI in Genetic Diagnosis: Identifying Rare Diseases

By Staff Writer

May 17, 2024

Introduction

Every year, numerous children are born with severe genetic disorders, with a considerable number remaining undiagnosed due to the complexity of identifying causative genetic variants. The emergence of artificial intelligence (AI) in genetic diagnosis offers a promising avenue for addressing these challenges, pushing the boundaries of precision medicine.

Understanding the Diagnostic Challenge

Genetic disorders, often resulting from single-gene mutations, present a significant diagnostic challenge. Despite modern bioinformatics tools, the process of pinpointing the exact variant responsible for a disease remains a complex task, demanding both time and extensive knowledge. Despite the advent of sophisticated bioinformatics tools, the diagnostic rate for genetic disorders hovers between 30 and 40%.  This complexity underscores the need for more efficient diagnostic methodologies.

Figure 1. Schematic Diagram Illustrating the Reanalysis Process

The Power of AI in Genetic Analysis

AI systems, such as AI-MARRVEL (AIM), have been developed to enhance the diagnostic process for Mendelian disorders. These systems leverage patient clinical features and sequencing profiles, offering a sophisticated approach to variant prioritisation. AIM, in particular, is trained on a more than 3.5 million variant data points and curated by certified experts, embodying a significant leap forward in genetic diagnostics.

Navigating the Limitations of Current Tools

While AI systems like AIM mark a significant advancement, they are not without limitations. The inability to analyse certain types of genetic variations and a focus on coding variants restrict their scope. However, these challenges present opportunities for further innovation and integration of more comprehensive analytical tools.

The Future of Genetic Diagnosis

AI in genetic diagnosis is not just a theoretical concept but a practical tool with a web interface for real-world application. It has the potential to truly enhance the periodic reanalysis of undiagnosed cases, making it a feasible and cost-effective option for many. As AI continues to evolve, its integration into clinical practice promises to enhance patient outcomes and set a new norm in genetic medicine.

Reference url

Recent Posts

Mental Health Policy Integration: A Cross-Sector Imperative for Well-being and Productivity

By João L. Carapinha

July 31, 2025

The purpose of this update is to review a recent Lancet editorial (linked below) on mental health policy integration in public policy frameworks. The article “Mental health in all policies” emphasizes that mental health influences individual well-being, societal cohesion, and economic productivit...
Novartis Gains Approval for Groundbreaking Malaria Treatment for Infants

By Rene Pretorius

July 30, 2025

In this article we review Swissmedic's approval of Novartis' Coartem Baby. It is the first malaria treatment for infants under 4.5 kilograms. This novel formulation addresses a critical gap in antimalarial care. Existing treatments were unsuitable due to dosing and metabolism concerns in young in...
ViiV Healthcare Licensing: Expanding Access to Long-Acting HIV Treatment in Low-Income Countries
ViiV Healthcare has expanded its voluntary licensing agreement with the Medicines Patent Pool. The update now includes access to long-acting injectable cabotegravir (CAB LA) for HIV treatment. This allows generic manufacturers to supply the therapy in 133 low- and middle-income countries (LMICs)....