What is the role of bioinformatics in modern diagnostics and laboratory medicine—does it develop new tests, train personnel, ensure safety, or manage and analyze large high‑throughput datasets?

Medical Advisory BoardAll articles are reviewed for accuracy by our Medical Advisory Board
Educational purpose only • Exercise caution as content is pending human review
Article Review Status
Submitted
Under Review
Approved

Last updated: February 18, 2026 • View editorial policy

Personalize

Help us tailor your experience

Which best describes you? Your choice helps us use language that's most understandable for you.

The Primary Role of Bioinformatics in Modern Diagnostics and Laboratory Medicine

Bioinformatics primarily functions to manage and analyze large datasets generated through high-throughput technologies in modern diagnostics and laboratory medicine. 1

Core Function: Data Management and Analysis

The fundamental role of bioinformatics centers on handling the massive volumes of data produced by next-generation sequencing (NGS) and other high-throughput platforms. 1 This includes:

  • Storing and analyzing huge amounts of data generated by sequencing and high-throughput technologies, requiring e-infrastructure with high-performance computing and large-scale storage resources 1
  • Processing data through multiple analytical stages: primary analysis (converting instrument signals to base calls), secondary analysis (quality assessment, trimming, filtering, and sequence alignment), and tertiary analysis (interpretation and clinical reporting) 1
  • Providing computational tools for finding disease fingerprints in proteomic and microarray datasets through improved data visualization technologies and multivariate statistical algorithms 1

Integration Across Multiple Biological Levels

Bioinformatics serves as the critical bridge for integrating diverse data types:

  • Combining complementary genetic, gene-expression, and clinical data to support discovery and evaluation of candidate disease patterns in large clinical datasets 1
  • Organizing information gathered from both high-throughput experimental technologies and traditional biology and medicine 2, 3
  • Enabling effective integration of multiple biological levels including genomic, transcriptomic, and proteomic data 1

Supporting High-Throughput Technologies

The infrastructure demands are substantial:

  • NGS applications require automated informatics components, computational servers, and databases that were not previously routine in clinical and public health laboratories 1
  • Bioinformatics tasks typically require extensive cluster-attached storage and random-access memory (RAM), with some tasks like genome assembly requiring up to several terabytes of RAM 1
  • High-throughput marker validation relies on bioinformatics to process data from widely used immunoassay platforms and other clinical laboratory technologies 1

Critical Distinction from Other Laboratory Functions

While bioinformatics does not primarily focus on developing new diagnostic tests (that's the role of technology development centers), training personnel on testing procedures (that's laboratory education), or ensuring safety (that's quality assurance and regulatory compliance), it is essential for making high-throughput diagnostic technologies clinically useful 1

Important Caveats

  • Workforce education in bioinformatics is critical for successful NGS adoption, as most clinical and public health laboratorians lack routine bioinformatics skills 1
  • Expansion of information technology infrastructure and training efforts among clinicians and scientists is required to support effective progress 1
  • Professional service units should handle e-infrastructure development and maintenance due to increasingly demanding technical requirements, with emphasis on collaboration between researchers and IT professionals 1

References

1
Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

3
Research

Bioinformatics in the post-sequence era.

Nature genetics, 2003

Related Questions

What is the interpretation and immediate management of an adult patient with primary metabolic acidosis (bicarbonate 14.9 mmol/L, base excess –8.5 mEq), appropriate respiratory compensation (partial pressure of carbon dioxide 26 mmHg), hypoxemia (partial pressure of oxygen 57 mmHg) and hypokalemia (potassium 2.9 mmol/L) with normal lactate?
How should low ferritin and low omega‑3 fatty acid levels be treated?
How can I taper off alprazolam 0.25 mg twice daily as needed?
How should I manage a 54‑year‑old woman with a recurrent painless left upper eyelid swelling (likely chalazion), who is using topical estradiol and wants to switch to a transdermal estradiol patch, and who also reports hair thinning?
What is the safest first‑line treatment for headache in a patient with viral encephalitis?
What is the recommended treatment for acute diarrhea in patients of all ages?

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

Have a follow-up question?

Our Medical A.I. is used by practicing medical doctors at top research institutions around the world. Ask any follow up question and get world-class guideline-backed answers instantly.

Ask Question