MDIC partners with PerkinElmer's Horizon Discovery to improve accuracy of next generation sequencing-based cancer diagnostics
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.
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.
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.
