Liquid Biopsy — enabling non-invasive precision medicine through a simple blood sample
According to the NCI, a liquid biopsy is a “test done on a sample of blood to look for cancer cells from a tumor that are circulating in the blood or for pieces of DNA from tumor cells that are in the blood.” Liquid biopsies can be used across the patient journey, from early detection (generally requiring large panel sizes or ultra-deep sequencing) through diagnosis, treatment selection and monitoring, and surveillance for disease recurrence.
Though an estimated~1% of tumors are sequenced today, with a much smaller fraction done using liquid biopsy, we anticipate this field will explode, with the liquid biopsy manufacturing market (i.e., sales of kits and reagents, excluding sales of platforms and/or services) surpassing $1B by 2023.
What does this mean for patient care? Liquid biopsies offer three key advantages over traditional tissue testing:
- Non-invasive (i.e., the only option for the ~15% of advanced-stage lung cancer patients with no resectable tissue)
- Overcomes issues associated with tumor heterogeneity (i.e., one section of tumor tissue may look very different, genomically speaking, than another section of tissue)
- Ease-of-use (easy sample collection enabling serial monitoring)
While tissue testing continues to be the gold-standard for cancer diagnostics, liquid biopsy has gained ground quickly. There are over 100 companies today offering liquid biopsy products, from Freenome’s Adaptive Genomics Engine which combines AI and machine-learning with biomarker detection to identify cancer before symptoms begin, to Guardant Health’s G360, a 73-gene assay that guides optimal treatment for metastatic non-small cell lung cancer patients.
Given the level of investment activity (>$4B poured into the liquid biopsy space over the past few years, with GRAIL, Guardant Health, and Tempus Labs as the pure-play liquid biopsy providers leading the way), we anticipate a market shakeout in the next 1–2 years leaving only 10–14 players left to serve patients with a blood-based diagnostic offering.
From taking a multi-modal technological approach (e.g., combining genomics and proteomics, like John Hopkins spin-out PapGene) to analyzing a variety of biomarkers beyond the traditional three (i.e., circulating tumor DNA / RNA, circulating tumor cells, and exosomes), new entrants are taking increasingly innovative approaches in order to differentiate — and attract investor funding. Investing in an industry with a history of blood-based diagnostic drama, should investors be worried?
Not if the companies are complying with guidelines, publishing in peer-reviewed journals and demonstrating analytical and clinical validity, according to regulators. In fact, a slew of companies — including Guardant Health, Foundation Medicine, Personal Genome Diagnostics (PGDx) and PapGene have all received Breakthrough Device Designation (BDD) from the U.S. Food and Drug Administration (FDA) indicating these liquid biopsy providers “provide for more effective diagnosis for life-threatening or irreversibly debilitating diseases, for which no approved or cleared treatment exists or that offer significant advantages over existing approved or cleared alternatives.”
What does the future look like for liquid biopsy? In a few years, will we all be dropping blood samples off at a local Walgreens or ordering a testing kit through Amazon Prime to ensure we are still cancer-free? What happens when traces of cancer are detected, and will it lead to preemptive treatment interrupting our bodies’ natural defense? What happens when a mutation is detected, but there is no targeted therapy available (or accessible due to local regulatory or reimbursement constraints)?
If you’re interested in following developments in the field, sign up for weekly liquid biopsy news. If you want market data, check out our report and reach out. Thanks for reading!
