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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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Updated: Jun 26, 2025

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Laboratory Considerations for Releasing Next-Generation Sequencing Data to Patients.

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Summary

Patients can request their health data, including complex next-generation sequencing (NGS) results. Laboratories must clarify the limitations of unvalidated NGS data for clinical use.

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Area of Science:

  • Medical Diagnostics
  • Genomics
  • Laboratory Medicine

Background:

  • Healthcare systems must provide patient health records per federal regulations.
  • Complex genomic tests like next-generation sequencing (NGS) present unique data release challenges.
  • Understanding the implications of releasing various NGS data files is crucial for patient care.

Purpose of the Study:

  • To describe laboratory implications of releasing different NGS data files.
  • To outline limitations for the clinical use of various NGS data files.
  • To ensure appropriate patient data access and understanding.

Main Methods:

  • A College of American Pathologists workgroup reviewed literature on NGS testing and patient data access.
  • Pertinent regulations (45 CFR 164.524) and HHS guidance were examined.
  • Expertise from laboratorians specializing in NGS was leveraged.

Main Results:

  • NGS validation encompasses both wet bench and bioinformatics components.
  • Laboratories retain intermediate, unvalidated NGS data files.
  • Patients may request these files without full awareness of validation status or limitations.

Conclusions:

  • Laboratories should facilitate patient access to health data.
  • Educating patients on the content, uses, and limitations of NGS data is essential.
  • Unvalidated NGS data requires confirmation by a clinically validated method before clinical use.