Data-Driven Initiative to Support Genomics-Based Cancer Diagnostics

The Medical Device Innovation Consortium (MDIC) has launched its Somatic Reference Samples (SRS) Initiative, which aims to develop and validate clinically relevant samples and public genomic datasets to enhance next generation sequencing (NGS)-based cancer diagnostics.

According to the National Cancer Institute, NGS is a technique that uses DNA sequencing to process multiple DNA sequences in parallel at the same time to determine a portion of the nucleotide sequence in a person’s genome. Research indicates that NGS is significantly faster than other methods that have been used in the past and has significant clinical potential.

The SRS Initiative brings together MDIC, the US Food and Drug Administration (FDA), the National Institute of Standards and Technology (NIST), the National Institutes of Health (NIH), and industry stakeholders to create and validate SRSs to support NGS-based diagnostic development and regulatory review.

The initiative will also focus on creating a publicly available genomic dataset library for use by stakeholders and regulators.

“There is a need for appropriately consented, highly characterized, and broadly available reference materials that may improve the accuracy, reliability, and transparency of NGS-based oncology tests and support the generation of validation data for use in regulatory submissions. The reference samples and datasets being created by the MDIC Somatic Reference Samples Initiative can help fulfill this need,” said Wendy Rubinstein, MD, PhD, director of personalized medicine at the FDA’s Center for Devices and Radiological Health, in the press release.

During the pilot project, SRSs based on 10 gene variants clinically associated with one or more specific cancers will be created. Each variant will be individually engineered into characterized human cell lines using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology. Fully characterized cell lines will be commercially available, and the characterization data will be available publicly.

“As our collaboration validates the MDIC SRS samples, we will also learn and build best practices to improve the efficiency and sustainability of reference sample validation and dataset generation in general. This project is a major step in the development and optimization of new sequencing technologies and the translation of DNA sequencing to clinical applications for diagnosing and treating cancer,” said Justin Zook, PhD, co-leader of the biomarker and genomic sciences group at NIST.

NGS has helped spur widespread genomic testing and data use in healthcare settings.

Last year, Mayo Clinic researchers leveraged genomic data in two separate studies to investigate the pathologies of colon cancer and Alzheimer's disease. By utilizing patients’ genetic data, the researchers were able to more accurately identify disease presence and progression, which could lead to additional opportunities for disease prevention and management in the future.

The promise of NGS, especially when combined with artificial intelligence (AI), is also generating significant buzz among healthcare vendors.

In July 2021, GE Healthcare and SOPHiA GENETICS signed a letter of intent declaring that they would collaborate to develop genomics-based AI technology to advance cancer care by better targeting and matching a patient’s treatment based on their genes and cancer type.