Flexibility to develop your own in vitro diagnostic assays using NGS technology
In vitro diagnostic (IVD) assay development is the creation of tests from diverse human biological samples. IVD tests are often used to detect diseases and monitor a person’s overall health.1 Offering speed, scalability, and resolution to help clinical labs target specific genes or genomic regions of interest, targeted next-generation sequencing (NGS)–based IVD assays provide an informative view of the human genome in an efficient manner. While whole-genome sequencing (WGS) provides broad-scale genomic coverage, targeted NGS assays enable flexible, and often more economical, insights into precise changes in the genome. These benefits facilitate diagnosis, prognosis, and therapeutic selection for rare inherited disorders and cancer.2
NGS-based target enrichment is a hybrid–capture method that uses target-specific probes and magnetic pulldown to capture and isolate genomic regions, such as protein-coding regions of the genome with exome panels, or specific genes of interest.3 Illumina DNA Prep with Enrichment Dx enables clinical labs to prepare sample libraries from genomic DNA derived from human cells and tissue while expanding their menu of diagnostic applications with the addition of target enrichment and exome sequencing panels.*
An essential component for building targeted NGS IVD assays on Illumina Dx instruments, Illumina DNA Prep with Enrichment Dx is an IVD-grade enrichment-based library preparation solution offering the flexibility and ease of use that clinical labs require. This flexibility includes support for various content types, including fixed, custom, and exome sequencing panels. Users must supply the specific fixed, custom, or exome probe panels required for the preparation of libraries targeting specific genomic regions of interest. Content flexibility enables:
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The stages of IVD test development for clinical use include research studies and biomarker selection, development of the test prototype and validation of the analytical performance, clinical performance assessment to meet clinical need as defined by intended use in a target population, and approval for clinical use.4
The two main types of IVD tests include laboratory-based tests and point-of-care (POC) tests. Laboratory-based tests are performed in clinical labs for complex conditions, such as cancer, while POC tests are often performed by individuals at home with self-monitoring devices, such as blood glucose monitors.5
IVD tests are a crucial element for patient care, as medical decisions are often based on the information they provide. These tests play an important role in disease screening, diagnosis, therapy monitoring, and prevention. Additionally, reimbursement is a key consideration when deciding to develop an IVD test. While obtaining reimbursement for an IVD test is complex and varies by country, the possibility of a favorable financial outcome may provide the necessary incentive to navigate this process.5–7
Using IVD-cleared components can help reduce the time needed for clinical labs to validate a new assay, since the performance of the individual IVD-cleared component has already been rigorously evaluated. In addition, using IVD-cleared components can simplify the regulatory submission process for new assays that are being developed.1
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* All diagnostic tests developed for use with this product require full validation for all aspects of performance.