The field of molecular diagnostics—also known as molecular pathology—is experiencing a period of rapid growth. In 2023, the global molecular diagnostics market size was valued at around $15.4 billion, reaching an estimated $17.3 billion in 2024, and is expected to grow at a CAGR of 13.5% by 2029 to reach $32.7 billion.
This momentum is driven by the growing prevalence of infectious diseases and cancer worldwide, increased funding in molecular diagnostics R&D, technological advancements, and a rising awareness regarding the importance of early disease diagnosis and precision medicine.
Recently, several notable collaborations and novel diagnostics solutions have been announced in the molecular pathology field, covering advancements to better diagnose diseases, assess the risk of developing different diseases, such as cancer, or determine the best therapies for certain cancers.
For example, the South Korean AI software firm Lunit announced a collaboration with the big pharma company AstraZeneca this week. The partnership aims to further develop and use the Lunit SCOPE Genotype Predictor—an AI tool that can analyze hematoxylin and eosin (H&E)-stained histological slides, to identify tumors containing non-small cell lung cancer (NSCLC) driver mutations.
By identifying these driver mutations—such as epidermal growth factor receptor (EGFR) mutations—clinicians can determine what treatments work best for patients. This AI-driven screening tool that can predict NSCLC driver mutations based on H&E-stained tissue samples, is a faster and more cost-effective solution than the current option of genomic testing, which is costly and time-consuming.
Brandon Suh, CEO of Lunit, said in a press release: “The integration of Lunit SCOPE Genotype Predictor as a screening test into pathology workflows promises to improve the opportunity for patients to benefit from appropriate targeted therapy, ultimately improving patient outcomes and streamlining the treatment planning process.”
This same week, French AI biotech company Owkin and U.S. software firm Proscia entered into a strategic partnership to develop an AI tool that will help pathologists test for the genomic biomarker MSI, commonly found in colorectal cancer. The companies plan to integrate Owkin’s AI diagnostic tool MSIntuit CRC v2 for the detection of colorectal cancer with Proscia’s Concentriq software platform, making it part of Proscia’s precision medicine AI portfolio.
The companies will work on streamlining testing of MSI for patients with colorectal cancer, which is found in 10–12% of patients with the disease. Although testing for MSI helps with the disease management, current screening techniques—such as immunohistochemistry staining, polymerase chain reaction testing, and next-generation sequencing—are often costly, time-consuming, and sometimes inaccessible.
“While MSI screening helps ensure that each patient receives the best course of treatment, it puts added burden on pathologists and laboratories,” explained Thomas Clozel, CEO of Owkin, in a press release. “We are thrilled to partner with Proscia and execute on our shared vision of harnessing the power of AI to transform medical research and diagnosis. Together, we will expand access to our digital diagnostics for patients globally.”
Another leader in the global molecular pathology field is the U.S. DNA sequencing firm Illumina. The company recently announced the expansion of its TruSight Oncology portfolio, with plans to release the newest version of its leading cancer research assay, TruSight™ Oncology 500 v2 (TSO 500 v2), by mid-2025.
TSO 500 v2 is an assay used for the comprehensive genomic profiling of tumors. Using a single assay, it has the ability to analyze and assess hundreds of genes across all variant classes and immunological biomarkers from just one sample. This can support researchers in studying therapy selection for different tumors.
“We are excited to assess the new features of the TruSight Oncology 500 v2 tissue assay, such as the faster workflow, improved coverage, and lower DNA/RNA input levels,” said Wei Song, director of clinical genomics and molecular pathology at the University of California, San Diego, who is currently testing TSO 500 v2. “Such improvements are highly relevant to clinical research laboratories and can positively affect time to results, quality of results, and the processing of challenging tissue samples.”
Illumina will be presenting the new features of TSO 500 v2 at this week’s annual meeting of the Association of Molecular Pathology in Vancouver, British Columbia.
