Molecular Biomarker Testing in the Clinical Laboratory

Author: David Moffa, PhD, BCLD
Reviewer: Morgan Moss, MHA, MLS(ASCP)CM

Continuing Education Credits

Florida Board of Clinical Laboratory Science CE - General (Molecular Pathology): 1 hour(s)

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Objectives

  • Define molecular biomarkers and their use in the clinical laboratory.
  • List the key types of molecular biomarkers and their applications.
  • Differentiate among commonly used techniques for identifying molecular biomarkers.
  • Describe the clinical uses for commonly used biomarkers.
  • State the key non-cancer and cancer biomarkers used in clinical labs.

Course Outline

  • Overview of Molecular Biomarker Testing
    • Introduction to Molecular Biomarkers
    • Historical Background
    • True or False: Molecular biomarkers used in the clinical lab as biological indicators include genes, proteins, DNA, RNA, and metabolites.
    • Which term is defined as a tailored approach to healthcare that uses an individual's unique genetic makeup, environment, and lifestyle to guide decisions for disease prevention, diagnosis, and treatment?
    • Key Types and Applications of Biomarkers
    • Key Types and Applications of Biomarkers, continued
    • Key Types and Applications of Biomarkers, continued
    • Which statement best describes genomic biomarkers?
    • Which type of biomarker is identified as specific inherited genetic variations that influence a person's response to drugs, affecting drug metabolism, efficacy, and toxicity?
  • Common Techniques for Molecular Biomarker Testing
    • Common Techniques for Molecular Biomarkers: PCR
    • PCR, continued
    • Common Techniques for Molecular Biomarkers: NGS
    • Common Techniques for Molecular Biomarkers: Microarrays
    • Common Techniques for Molecular Biomarkers: FISH
    • Summary of Common Techniques for Molecular Biomarkers
    • Which technique for molecular biomarkers uses denaturation, annealing, and extension to amplify specific DNA sequences?
    • Which molecular biomarker testing technique is a massively parallel sequencing method that allows for the simultaneous sequencing of millions to billions of DNA fragments?
    • What is the molecular cytogenetic technique that employs fluorescent probes to detect specific DNA sequences in tissue or blood samples?
  • Clinical Uses for Molecular Biomarkers
    • Clinical Uses for Molecular Biomarkers
    • Clinical Uses for Molecular Biomarkers, continued
    • True or False: One clinical use of molecular biomarkers can be to determine which patients are most likely to respond to a specific treatment. This usage is called treatment guidance.
    • Key Non-Cancer Biomarkers Used in the Clinical Laboratory
    • What is the primary purpose of the APOE biomarker?
    • Key Cancer Biomarkers Used in the Clinical Laboratory
    • Which genetic cancer biomarker is commonly used in breast and gastric cancers to predict response to therapies?
    • Present Impact and Future Potential
  • References
    • References

Additional Information

Level of Instruction: Intermediate
Intended Audience: This course is intended for molecular, medical laboratory, and histology professionals, including laboratory supervisors and managers. It is also appropriate for MLS and MLT students and pathology residents seeking foundational or continuing education in molecular biomarker testing in the clinical laboratory.
Author Information: David Moffa, PhD, has over 30 years of experience in the healthcare industry as an executive manager, clinical laboratory director, and medical laboratory scientist. He is currently a technical consultant for Kentmere Healthcare, Wilmington, DE, and until his retirement, was the Regional Director for LabCorp, Inc. He holds a PhD in medical biochemistry from the School of Medicine at West Virginia University. 
The author has no conflict of interest to disclose.
Reviewer Information: Morgan Moss, MHA, MLS(ASCP)CM, is a Technical Training Specialist for Siemens Healthineers. She completed her Bachelor of Medical Technology at Old Dominion University. She then completed her graduate degree in Healthcare Administration at Grantham University. Prior to Siemens, Morgan worked as a generalist in the Department of Veterans Affairs. In her current position, she conducts classroom and onsite trainings throughout the continental U.S. Additionally, she edits and aligns training materials to represent real-world field/customer experiences, improve customer knowledge retention, and increase successful operation of instrumentation.