What Is Molecular Diagnostics?
Molecular diagnostics uses laboratory methods to identify disease (or risk) by studying molecules—DNA, RNA, and proteins—in a tissue or fluid sample. It’s used to help diagnose, classify, and guide treatment, monitor response, and detect recurrence. As precision medicine expands, molecular diagnostics is increasingly central to clinical decision-making because it can reveal the underlying drivers of disease, not just symptoms.
Common examples of molecular diagnostics include biomarker assays, germline and somatic testing, comprehensive tumor genomic profiling, and liquid biopsy-based circulating tumor DNA (ctDNA) assays.
How Big Data is Revolutionizing Molecular Diagnostic Testing
Diagnostic companies face immense pressure to innovate. With the rise of big data, these companies now have a unique opportunity to deliver better products, streamline operations, and create entirely new business growth opportunities. Our white paper, "Big Data is Driving the Future of Molecular Diagnostic Testing," explores how a Trusted Research Environment (TRE) can transform your approach to diagnostics.
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What Is Genetic Testing (Clinical Genomics)?
Genetic testing is a major pillar within molecular diagnostics that focuses on identifying genetic variants to inform diagnosis, risk, and care decisions across areas like hereditary disease, carrier screening, oncology risk, and rare disease. In practice, it combines laboratory measurement with computational analysis and clinical interpretation to produce an actionable result that can guide next steps for patients and providers.
What Are In Vitro Diagnostics (IVDs)?
IVDs are tests performed on samples (like blood or tissue) taken from the human body to detect disease or conditions, or to monitor health. They span everything from routine clinical lab assays to increasingly software-driven diagnostics that rely on complex analytics.
What are Companion Diagnostics (CDx)?
A companion diagnostic is a medical device—often an IVD—that provides information essential for the safe and effective use of a corresponding drug or biologic. In other words, the test helps determine which patients are most likely to benefit from a therapy—or which patients face risks that should change treatment decisions.
What is a Liquid Biopsy?
A liquid biopsy is a lab test on blood, urine, or other body fluid to look for tumor cells or molecules (including DNA/RNA) released by tumors—enabling repeat sampling over time and, in some cases, earlier detection or monitoring. It is especially valuable in settings where tissue samples are difficult to obtain, or where clinicians want to track disease dynamics over time.
See How DNAnexus Streamlines Molecular Diagnostics
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The Four Common Challenges in Clinical Diagnostics
In the era of next-generation sequencing (NGS), almost all components of the diagnostic workflow have gone digital—but that doesn’t mean things have gotten easier. The workflow can suffer from a lack in standardization, interoperability, and connectivity at all levels. Applications cannot exchange data, systems are not connected, and data is locked in silos. Read our whitepaper to learn how to overcome these 4 common challenges to clinical diagnostics
Diagnostics FAQs
What types of tests fall under molecular diagnostics?
Molecular diagnostics includes tests that analyze DNA, RNA, and proteins—such as biomarker tests, genetic tests, tumor sequencing tests, and liquid biopsies.
What’s the difference between molecular diagnostics and IVD?
“Molecular diagnostics” describes the molecular methods and test types, while “IVD” is a broader category of tests performed on human samples to detect disease/conditions or monitor health (molecular tests are often IVDs).
What makes companion diagnostics different?
A CDx provides information that’s essential to safely and effectively use a specific therapy, linking the test directly to treatment decisions.
What are the top 3 data challenges in diagnostics programs?
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Standardization across instruments, pipelines, and sites
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Traceability (clear lineage from raw data to reported result)
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Governed collaboration across lab, clinical, and external partners
What should you look for in a purpose-built diagnostics platform?
A platform should make it easy to scale analysis, prove reproducibility, and operate securely in regulated contexts—and it should come with the expert support to help teams adopt and operationalize best practices, not just deploy tools.