Baylor Genetics Prepares for a ‘Genome World’ With Explainable AI-Powered Variant Interpretation

At the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in March 2024, Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, delivered a presentation titled, “Preparing for a Genome World: AI and Informatics Automation at the Core.” In her presentation, Dr. Eng discussed Baylor Genetics’ collaboration with Illumina, a biotechnology company, focusing on leveraging artificial intelligence and automation for expediting clinical genome sequencing, ensuring rapid answers to healthcare providers and patients.

Analyzing sequencing data for the diagnosis of rare diseases can be challenging and time-consuming.¹ Dr. Eng highlighted Baylor Genetics’ laboratory’s approach to addressing this challenge by leveraging explainable artificial intelligence (XAI) and Illumina Connected Software, which streamlines variant prioritization across diverse types and improves the accessibility and transparency of testing, while optimizing diagnostic efficiency. Dr. Eng added that this collaboration with Illumina allows us to establish a “fully integrated ecosystem,” which optimizes setup and support processes.

Overall, Dr. Eng’s vision highlights the promising role of genome sequencing in shaping the future of precision medicine, with the potential to significantly improve patient care and outcomes across various healthcare settings. Efforts are also underway to enhance diagnostic yield through complementary modalities like RNA-sequencing.

Read the full article by GenomeWeb here.

References:

1. Meng L, Attali R, Talmy T, Regev Y, Mizrahi N, Smirin-Yosef P, Vossaert L, Taborda C, Santana M, Machol I, Xiao R, Dai H, Eng C, Xia F, Tzur S. Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory. Genet Med. 2023 Jun. PMID: 36939041.