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MDIC, Horizon Discovery Partner on Reference Samples for NGS-Based Cancer Tests

NEW YORK — The Medical Device Innovation Consortium announced Wednesday it will partner with PerkinElmer company Horizon Discovery to create somatic reference samples that could advance next-generation sequencing-based cancer diagnostics.

The oncology reference samples are meant to simplify and support validation of NGS-based cancer tests.

Horizon will use CRISPR-based technologies to engineer 10 somatic reference samples, each for a different gene variant that is clinically associated with a certain type of cancer. The organization previously announced plans to engineer these variants into a highly characterized human cell line, GM24385. Those samples will undergo characterization and validation in a collaboration with the National Institute for Standards and Technology and will likely become commercially available from Horizon by early 2024, the MDIC said.

The partnership is a product of the MDIC's Somatic Reference Samples (SRS) Initiative, which launched this August to improve the accuracy of NGS-based cancer diagnostics and create publicly available reference samples and a global genomic data resource library. The MDIC, which is a public-private partnership for advancement of medical device regulatory science, said the characterization data created through the partnership will be accessible through public databases.

MDIC President and CEO Andrew Fish said the partnership combines Horizon Discovery's capabilities in reference sample development and manufacturing with the MDIC's expertise in creating and disseminating methods and tools to advance 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," he said.

The initiative is funded in part by the Gordon and Betty Moore Foundation, the National Philanthropic Trust, Illumina, and Quidel.

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