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.
🌍 Will Yeztugo Approval and Access Strategy Deliver an Inflection Point in HIV/AIDS?
Yeztugo (lenacapavir), a twice-yearly injection, redefines long-acting HIV prevention with 96–100% efficacy. Gilead’s access strategy—insurance, assistance, and generics for 120 countries—targets global impact. Can it balance $28,218 U.S. costs with equity for 1.3M annual infections? My article explores health economics, public health, and market dynamics.
📖 Read how Yeztugo’s access strategy could transform long-acting HIV prevention
💊 Are you curious about how Canada plans to make essential prescription drugs accessible for everyone?
Canada’s Drug Agency has launched a national consultation to create a list of essential prescriptions that aim to ensure equitable access, improve health outcomes, and reduce costs. This initiative marks a key step towards universal pharmacare and highlights the importance of evidence-based practices in healthcare.
Dive into our latest article to learn more about the implications for patients, policymakers, and the broader healthcare system!
The recent overhaul of the US Advisory Committee on Immunization Practices (ACIP) raises critical concerns about the integrity and transparency in vaccine recommendations. The abrupt removal of longstanding members may disrupt the essential processes that have historically upheld public trust and immunization success.
Curious about the implications for health policy and public health? Dive into the full analysis to understand the balance needed between continuity and reform!
When you partner with Syenza, it’s like a Nuclear Fusion.
Our expertise are combined with yours, and we contribute clinical expertise and advanced degrees in
health policy, health economics, systems analysis, public finance, business, and project management.
You’ll also feel our high-impact global and local perspectives with cultural intelligence.
