2020 will be remembered for the COVID-19 pandemic, masks, social distancing protocol, alternate care sites, Moderna, Pfizer, BioNTech, AstraZeneca, RT-PCR, and serology testing (or all the above). However, in the midst of our response to the global pandemic, remarkable advancements were made in another great frontier in medicine that remains unconquered—cancer. These advancements mark the dawn of precision diagnostics to deliver the promise of personalized medicine. The key enablers were the game-changing advancements in next-generation (NGS) workflow solutions, defining a new era in mutation testing, early detection, liquid biopsy, pan-cancer in vitro diagnostic (IVD) assays, companion diagnostics (CDx) tests, and blockchain-based direct-to-consumer (DTC) services. The role of liquid biopsy NGS tests will gain significance in the coming age of minimal residue disease monitoring.

2020 saw a rising trend of consolidation; 3 high-value acquisitions took place—Illumina and Grail (announced); Invitae and ArcherDx; and Exact Sciences and Thrive Earlier Detection. With the arrival of early blood-based cancer screening assays and advancements in NGS bioinformatics, the market holds immense potential. Additional consolidations are expected in future, particularly in early detection and artificial intelligence (AI)-enabled diagnostics at the point of care (PoC).

North America (the United States) is the largest market. Strong infrastructure, favorable coverage policies, and early approvals for NGS-based CDx act as market growth drivers. Asia-Pacific is in the early stage of growth; however, an increase in public-private partnerships, biopharma developers’ increasing focus on CDx tests, and the need to develop in-house multi-gene panels are setting the tone for widespread guideline-recommended genomic testing.

Market leader Illumina (with its planned acquisition of Grail) will reignite its growth engine by changing its value proposition from ‘research tools company’ to ‘clinical diagnostics supplier’. As the workflow solutions segment continues to grow at an explosive rate, the genomic data marketplace will become a key growth opportunity that market participants can explore.

Macroeconomic models aim to improve and increase the amount of data available for basic genomic science and personalized genomic medicine and monetize data sharing initiatives by providing patients greater access control to data through a cooperative marketplace. This will improve clinical uptake, catalyze innovation, and build trust in the ecosystem.

Immediate growth opportunity lies in the development of NGS-based CDx tests. Hence, assay developers are encouraged to adopt a multi-disciplinary, design-focused approach to test menus, assay design, and overall workflow. A holistic approach is encouraged, and this must cover patient need, physician perspective, and the integration of test results with an electronic medical record system. Simultaneously, more efforts to create awareness through partnerships, education, and outreach initiatives will ensure consistent clinical uptake.

Exploring the possibilities of delivering CDx tests at the PoC by leveraging existing standard products and tailoring them to be specific to an analyte of interest, supported by smartphone apps and readers, could be a winning strategy. As clinical and economic utility continues to improve, new care delivery models will emerge (for example, conversational AI-enabled diagnostics at the PoC) and simplify real-world clinical genomic data, thereby helping to develop a better understanding of disease areas and treatment decisions.

Author: Amartya Bose