Illumina introduces PromoterAI for rare disease diagnosis

SAN DIEGO - Illumina Inc. (NASDAQ: ILMN), a $13.3 billion market cap leader in DNA sequencing technologies currently trading at $82.64, has launched PromoterAI, an artificial intelligence algorithm designed to enhance the diagnosis of rare diseases by identifying pathogenic genetic variants in noncoding regions of the human genome. According to InvestingPro analysis, the company appears undervalued based on its Fair Value metrics, despite facing recent challenges with a -43.6% year-to-date return. A study published in Science today indicates that this deep learning technology can detect regulatory variants in "promoter" segments, which are believed to contribute to approximately 6% of rare disease genetic causes.

PromoterAI is seen as a significant advancement in genomics, particularly for rare disease patients who have not received precise diagnoses from exome sequencing, which currently stands at about 30%. Promoters, which are crucial noncoding elements that signal the start of gene transcription, can profoundly impact gene expression when mutated. PromoterAI’s ability to interpret these promoter sequences is expected to improve the diagnostic rate for rare diseases. While the company reported $4.3 billion in revenue over the last twelve months, InvestingPro data shows it’s currently operating at a loss, though analysts expect a return to profitability this year.

According to Dr. Kyle Farh, vice president and head of the Illumina Artificial Intelligence Lab, "PromoterAI holds the power to improve the rate of rare disease diagnosis by identifying previously overlooked variants in the noncoding genome." The technology, which is built on advanced deep learning neural networks, works in conjunction with whole-genome sequencing data analysis, enabling clinical researchers to better understand disease etiology and potential drug targets.

The release of PromoterAI follows Illumina’s previous AI tools, including SpliceAI in 2019 and PrimateAI-3D in 2023, which predict the pathogenicity of noncoding and protein-coding variants, respectively. When used together, these AI classification prediction tools have been shown to double the diagnostic yield compared to using protein-truncating variants alone. For deeper insights into Illumina’s financial health and growth potential, investors can access comprehensive analysis through InvestingPro, which offers exclusive ProTips and detailed metrics, including the company’s moderate debt levels and management’s recent share buyback activities.

PromoterAI scores for all human promoter single-nucleotide variants are now freely available for academic and noncommercial research use and can be accessed through Illumina Connected Software, which is integrated into DRAGEN™ secondary analysis.

Illumina emphasizes that this release may contain forward-looking statements subject to risks and uncertainties, and actual results could differ materially. The company, recognized as a global leader in DNA sequencing and array-based technologies, provides products across various markets, including life sciences, oncology, and agriculture. This information is based on a press release statement from Illumina Inc.

In other recent news, Illumina Inc. has expanded its clinical oncology portfolio with the FDA-approved TruSight Oncology Comprehensive test and the Pillar oncoReveal® CDx diagnostic kit. This expansion aims to enhance patient access to precision oncology, with the TSO Comprehensive test now covered by Medicare and most commercial health plans. In the realm of financial analysis, Stifel has maintained a Buy rating with a $135 price target, citing robust sequencing activity and a positive clinical trajectory despite some academic spending slowdowns. Meanwhile, Canaccord Genuity has adjusted its price target to $87, maintaining a Hold rating due to uncertainties in Illumina’s 2025 guidance and challenges like a recent ban on importing sequencers to China.

Illumina also unveiled DRAGEN version 4.4, a software update that improves germline structural variant calling accuracy by 30% and introduces new oncology applications. This software is positioned as a leading tool for genome analysis, with enhanced capabilities for various fields, including oncology and genetic disease research. TD Cowen has raised its price target for Illumina to $89, also maintaining a Hold rating, acknowledging sustained EPS growth amidst macroeconomic challenges and specific pressures from China and NIH spending. The firm notes growth in Illumina’s clinical segment and effective cost management as positive factors, despite a lowered sales and EPS guidance. These developments reflect Illumina’s ongoing efforts to navigate external pressures while progressing toward long-term goals.

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