Clinical genomics regained significance during the pandemic with the development of the mRNA COVID-19 vaccine, and several non-invasive at-home test kits; an unprecedented feat in recent times. Genomics will take center stage, as large genome sequencing and research will continuously create data for new therapeutics. Artificial Intelligence (AI) and its sub-disciplines Machine Learning (ML) and Deep Learning (DL), are being used in the discovery of biomarkers for clinical diagnostics, consumer point-of-care-tests, and interpretative services.

AI algorithms will extract, analyze, and interpret deep phenotypic information gathered from diagnostic platforms (clinical genomic workflow: next-generation sequencing, whole genome sequencing, real-time PCR), microarray, pathology imaging platforms, gene testing platforms, multiomics and microfluidic platforms, EHRs, and other point-of-care tests. The AI-integrated software with sample management technology will provide workflow efficiency, scalability, automation and streamline end-to-end platform operations. AI-based decentralized solutions will evolve further to meet the need for intuitive, affordable, and accurate tests. Finally, the informatics and interpretive services will create clinical insights interpretation for actionable diagnosis. DNA sequencing interpretation of exomes and genomes, medical interpretation, and so on, will be based on expert-curated knowledge bases and automated tools.

The study offers insight into the industry environment of clinical genomics and AI, its value proposition, and applications and examines the participation of top technology companies in clinical genomics and the business opportunities created for all stakeholders.

The study highlights fourteen ‘Use Cases and Impact Analyses’ of some of the most admired and innovative companies, such as Bionano Genomics, Inc, Deepcell, Inc., Fabric Genomics, Q-State Biosciences, Inc. TEMPUS, Sophia Genetics, Illumina, Qiagen, MolecularMatch, PierianDx, Inc., Dante Labs Inc., Microsoft Genomics, Intel Genomics, and Siemens Healthineers.

The vendor spotlight section highlights value proposition and SWOT analysis of Ultima Genomics, Inc., Prenetics Global and DNAnexus and concludes with key growth opportunities.

Frost and Sullivan predicts widespread adoption of AI will create tremendous growth opportunities for all stakeholders in the global genomics market. The collaborative effort of private-public healthcare systems, involving research and academic labs, diagnostic labs/companies, OEMs (sequencing instruments, workflows), universities, hospitals, and technology companies, will accelerate R&D to create diagnosis and treatment for genetic diseases, and flagship genomic reference data, bring about next-generation diagnostic technology breakthrough that will finally introduce precision medicine into the routine care pathway.

Author: Tejashri Manish Khadilkar