Are we witnessing the next chapter for NGS in routine diagnostic testing?

?A frequently asked question, which was also the focus of many of our conversations at ESMO, is about the evolution of the biomarker testing landscape. There is an overall increase in the volume of biomarker testing, and many labs have taken the next step towards adopting NGS. It is exactly here that we watch the current evolution with interest.

?

Sequencing has become less expensive, turning routine NGS into a 'commodity' and no longer a novelty. Additionally, there is an increasing number of countries that reimburse NGS tests for biomarkers in oncology. As next generation sequencing enters a new phase in routine biomarker testing, we see that more companies are becoming more active to gain a better share of the market.

?

Illumina has revolutionized the field of NGS and remains an undeniable leader in genomics and in powering many of the novelties in precision medicine. However, despite their resounding success in this domain, Illumina has faced challenges in maintaining a robust share in routine diagnostics. In the past 2 to 3 years, the number of pathology labs that have adopted the solution from 赛默飞世尔科技 has increased faster than the competition, especially propelled by the Genexus platform. Moreover, MGI and Element Biosciences have also made their inroads into routine diagnostics. (It is worth noticing that Element Biosciences has just announced a strategic partnership with 凯杰 . This win-win partnership might translate soon into more AVITI systems installations).

?

The currently tendency can be partially explained by the focus that the different providers have in diagnostics. Despite having a breakthrough designation and CE-IVD mark in their TSO500 panel, Illumina has only one CDx so far according to the FDA (and it is a different panel than TSO500), while Thermo Oncomine is the CDx of 12 indications/drugs according to the FDA.

?

To overcome this hurdle, Illumina seems to be looking to partner with other companies to boost their Dx portfolio. First with Myriad Genetics , to include HRD testing in the TSO500 panel, followed by further agreements on Myriad supporting Illumina partnerships with pharma for new CDx. This was followed by the agreement with Pillar Biosciences Incorporated , granting Illumina commercial distribution access to the different panels from Pillar, including 3 CDx. The most recent is with Veracyte, Inc. , who will develop NGS-based tests based on their solutions, including Prosigna, one of the most widely used prognostic gene signature assays for breast cancer.

?

With the recent developments from Illumina, Thermo, MGI and Element, together with some advances in translational research that might bring Oxford Nanopore Technologies and PacBio into the routine, the competition for the market will increase and, with that, instrument acquisition and sequencing runs will be less costly, ultimately providing a better access for patients.