By Allison Proffitt
January 12, 2021 | At the 39th Annual J.P. Morgan Healthcare Conference in San Francisco today, Illumina CEO Francis deSouza outlined Illumina’s take on the genomics market, focusing heavily on a rosy outlook for clinical genomics.
“The growing adoption of sequencing and reimbursement are key themes contributing to future growth,” deSouza said yesterday. He sees greatly expanded coverage for non-invasive prenatal screening, growth in whole genome sequencing for genetic disease testing, and growing adoption of comprehensive genomic profiling in oncology.
And as for GRAIL, the 2016 Illumina spinout focusing on multi-cancer early detection that is now in the process of being acquired by the company, deSouza was extremely bullish: “We expect early cancer detection and recurrence monitoring will be the largest genomic applications over the next decade—by far—representing a $60 billion addressable market.”
Non-invasive Prenatal Testing
“We are particularly excited about recent developments in non-invasive prenatal testing, with landmark decisions from Aetna and United Healthcare in 2020 and additional coverage expected, we anticipate an additional 1.1 million pregnancies to be covered for NIPT in 2021—a 50% increase from 2019,” deSouza said.
In the US, the TruSight NIPT IVD Module submission is in progress with FDA. He expects to be able to deliver an end-to-end kit in the US in 2022. In Europe, Germany plans to reimburse NIPT in the second half of 2021.
Reimbursement for genetic disease testing also increased 10-fold in 2020, deSouza said, and with less than 1% of genetic disease patients tested so far the market remains extensive. Illumina is working on the first whole genome sequencing IVD for genetic disease and deSouza says the company expects whole genome sequencing to become the standard of care in genetic disease testing.
Comprehensive genomic profiling in oncology—CGP—offers a single companion diagnostic for the 55+ targeted oncology therapies. “CGP simultaneously tests for targeted alterations in single genes and also cancer signatures for TMB and HRD, which effect many genes and require large panels,” deSouza said. He predicted that by 2026, CGP will be a billion-dollar market.
TruSight Oncology 500 Outlook
Illumina’s TruSight Oncology 500 (TSO 500) test is a Research Use Only comprehensive pan-cancer assay designed to identify 523 known and emerging tumor biomarkers. TSO 500 utilizes both DNA and RNA from tumor samples to identify key somatic variants critical for cancer development and progression, such as small DNA variants, fusions, and splice variants. The platform has over 150 customers worldwide and enjoyed a 130% increase in revenue in 2020.
deSouza announced a portfolio of new and expanded oncology partnerships for TSO 500 including new partnerships with Merck, Gilead, and Kura Oncology and expanded partnerships with Bristol-Myers Squibb.
Illumina and Merck are conducting a study focused on the expanded TruSight Oncology HRD offering, and with Kura Oncology, Illumina will work to build a CDx claim for HRAS mutations in Head and Neck Squamous Cell Carcinomas.
In the expanded collaboration with Bristol Myers Squibb, Illumina will develop a microsatellite instability CDx, as well as develop a diagnostic based on the content of TruSight Oncology 500 ctDNA, Illumina’s first liquid biopsy assay. Both program expansions are planned for global use by Bristol Myers Squibb’s portfolio of cancer therapeutics.
Based on the content of TSO 500, Illumina will be adding an in vitro diagnostic (IVD) test to the TruSight Oncology product family. This comprehensive tumor profiling assay will have similar chemistry and analytics to TSO 500 and is currently undergoing review with regulatory authorities. It is expected to be launched in both the U.S. and Europe later this year.
The company’s acquisition of GRAIL, announced in September, is still pending, but deSouza foresees a strong future for GRAIL’s multi-cancer early detection blood test, Galleri. Galleri detects more than 50 types of cancers with a low false-positive rate of less than 1% and predicts tissue of origin with 93% accuracy.
deSouza confirmed that Galleri is expected to launch as a laboratory developed test in the second quarter of 2021, after early 2021 results from the PATHFINDER study and additional clinical validation data from GRAIL’s Circulating Cell-free Genome Atlas (CCGA) study, and a diagnostic aid for cancer to speed time-to-diagnosis later this year.
The timing is good. Recent bills introduced in both the House and the Senate (H.R.8845 and S.5051) seek to ensure Medicare coverage of multi-cancer advanced technologies tests like Galleri, deSouza pointed out. “Medicare coverage of comprehensive multi-cancer early detection screening tests could substantially transform cancer care for Americans,” reads H.R.8845.
“The potential human and public health impact that could be achieved by adding Galleri to single cancer screening is enormous,” deSouza said, reporting that modeling suggests earlier cancer detection could avert 26% of the expected deaths of cancer over five years.
“GRAIL’s time to market lead and strong IP position it well,” deSouza said, “and Illumina will help GRAIL accelerate global adoption by contributing our expertise in market access, regulatory and commercial scale.”
GRAIL also announced new pharma collaborations with Amgen, AstraZeneca, and Bristol Myers Squibb to evaluate GRAIL’s methylation-based technology for the detection of minimal residual disease (MRD), an early warning of cancer recurrence.
“Many MRD tests available today for solid tumors require tissue analysis and development of patient-specific assays, contributing to longer turnaround times and potential delay in treatment decisions,” deSouza said. “GRAIL’s targeted methylation platform can enable a blood-based MRD detection assay for solid tumors that perform comparably to bespoke tissue-based assays while reducing complexity and processing times.”