MammaPrint and BluePrint Molecular Diagnostics Using Targeted RNA Next-Generation Sequencing Technology

Area of Science:

• Genomics
• Molecular Diagnostics
• Oncology

Background:

• Next-generation DNA sequencing is established in cancer diagnostics, but RNA sequencing (RNA-seq) is underutilized for clinical expression assessment.
• Multigene RNA diagnostic assays are increasingly used for early-stage breast cancer, but current central laboratory limitations restrict widespread clinical application.

Purpose of the Study:

• To evaluate RNA sequencing (RNA-seq) as a decentralized method for molecular diagnostic tests in breast cancer.
• To assess the equivalence, reproducibility, and stability of RNA-seq based diagnostic assays compared to existing microarray methods.

Main Methods:

• RNA sequencing (RNA-seq) was employed to perform MammaPrint and BluePrint diagnostic tests.
• Assays were conducted across different locations to evaluate reproducibility and over time for stability.
• Performance was compared against established microarray-based diagnostic tests.

Main Results:

• RNA sequencing (RNA-seq) based MammaPrint and BluePrint tests demonstrated equivalence to validated microarray tests.
• RNA-seq tests exhibited high reproducibility across different testing sites.
• The assays showed stability over time, confirming reliability for clinical use.
• The MammaPrint RNA-seq test underwent successful clinical validation.

Conclusions:

• RNA sequencing (RNA-seq) is a viable decentralized platform for molecular diagnostics in breast cancer.
• RNA-seq based assays yield results substantially equivalent to predicate diagnostic devices.
• This approach enhances the potential for broader clinical adoption of advanced RNA expression profiling.