Initiative to focus on development, manufacture, and validation of publicly available somatic reference samples

The Medical Device Innovation Consortium (MDIC) has partnered with PerkinElmer's Horizon Discovery to develop and manufacture somatic reference samples (SRSs) to simplify and support validation of next generation sequencing (NGS)-based cancer diagnostics. The SRSs are expected to be commercially available by early 2024, following a rigorous characterization and validation process in collaboration with the National Institute for Standards and Technology (NIST).

This partnership is part of MDIC’s Somatic Reference Samples (SRS) Initiative, a collaborative effort to improve the accuracy of next generation sequencing-based cancer diagnostics, and create publicly available reference samples and a global genomic data resource library. These tools could be used for diagnostic development, regulatory submissions, reimbursement decisions, and other applications across the total product life cycle of NGS-based diagnostics.

“We look forward to combining Horizon Discovery's technical capabilities in reference sample development and manufacturing with MDIC’s expertise creating and disseminating new methods and tools to advance safe and effective medical technologies. The Somatic Reference Samples Initiative will benefit patients by bringing more consistency to NGS-based cancer diagnostics development and ultimately support improved diagnoses and more effective treatments,” said Andrew Fish, MDIC President and CEO.

“Oncology reference standards are essential to unlocking tomorrow's discoveries,” Alan Fletcher, Senior Vice President, Life Sciences, at PerkinElmer commented. “Horizon Discovery's reference standards have been critical enablers in research for a variety of diseases, and now we look forward to partnering with MDIC to bring standards to the oncology community.”

Horizon Discovery will use clustered regularly interspaced short palindromic repeats (CRISPR) technology to engineer and manufacture ten SRSs, each with a different variant or change in the DNA sequence of a gene that has been clinically associated with a certain type of cancer. Leveraging its rich heritage in CRISPR editing technologies, Horizon Discovery has used this process to develop cell-based reference material for over a decade. Upon project completion, MDIC will collect and disseminate best practices to improve the efficiency and sustainability of reference sample manufacture, validation, and dataset generation in general.

The manufacturing process is expected to be completed by 2023 followed by extensive characterization, data validation, and integration. The fully characterized SRSs are expected to be commercially available through Horizon by early 2024, and the characterization data is planned to be accessible through public databases.

MDIC's SRS Initiative, which includes the FDA, NIST, NIH, CDC, and the pharmaceutical and diagnostics industries as collaborators, began in 2018 with an analysis of the landscape to identify gaps in available SRSs. MDIC’s SRS Landscape Analysis, published in 2019, was an extensive catalog of cancer variants and existing reference materials. The SRS Initiative team has prioritized ten variants from that list to manufacture in this new phase of the initiative. These ten selected variants represent a range of cancers and types of DNA mutations and vary in the degree of technical difficulty required for manufacture for the pilot project to have broad applicability. The work in the SRS Initiative is funded in part by the Gordon and Betty Moore Foundation (Grant GBMF), the National Philanthropic Trust, Illumina, and Quidel. FDA is a member of the MDIC’s SRS Initiative, but did not participate in discussions involving funding, contracts, or solicitations.

About MDIC

Founded in 2012, the Medical Device Innovation Consortium (MDIC) is the first public-private partnership created with the sole objective of advancing medical device regulatory science throughout the total product life cycle. MDIC’s mission is to transform health care into human care. Collaborating with our partners to advance science, we enable transformational medical technology to shape the world we want to live in and make that world possible by shortening the path from innovation to safety to access.