When should a Genosure Archive (genetic archiving test) be ordered versus a Genosure Prime (comprehensive genetic profiling test)?

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Last updated: September 15, 2025 • View editorial policy

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Choosing Between Genosure Archive and Genosure Prime

Genosure Archive should be ordered for genetic data storage and future reference, while Genosure Prime should be ordered for immediate comprehensive genetic profiling when specific clinical decisions need to be made based on genetic information.

Understanding the Difference

Genosure Archive

  • Purpose: Genetic data archiving and storage for future reference
  • Best for:
    • Long-term preservation of genetic material
    • Creating a genetic repository for potential future testing
    • When immediate genetic analysis is not required

Genosure Prime

  • Purpose: Comprehensive genetic profiling for immediate clinical use
  • Best for:
    • When specific clinical decisions need to be made based on genetic information
    • When a comprehensive genetic profile is needed for diagnosis or treatment planning
    • When time-sensitive genetic information is required

Clinical Decision Algorithm

  1. Assess Clinical Urgency:

    • If there is immediate need for genetic information to guide clinical decisions → Genosure Prime
    • If genetic information is being collected for future reference → Genosure Archive

  2. Consider Testing Purpose:

    • Diagnostic workup for suspected genetic condition → Genosure Prime
    • Preemptive collection of genetic information → Genosure Archive

  3. Evaluate Available Resources:

    • Limited budget but want to preserve genetic material → Genosure Archive
    • Resources available for comprehensive testing → Genosure Prime

Evidence-Based Recommendations

The American College of Medical Genetics and Genomics (ACMG) recommends that genetic testing should follow a structured approach, including testing affected family members first when possible and providing thorough genetic counseling before and after testing 1.

When considering genetic archiving versus comprehensive testing, the ACMG guidelines suggest that:

  • When the patient's phenotype is specific to a known genetic condition for which optimized genetic panel testing exists, targeted gene panel testing should be given priority (Genosure Prime approach) 2
  • Genetic archiving (Genosure Archive) is appropriate when there is value in preserving genetic material but immediate comprehensive analysis is not required

Special Considerations

Cost and Insurance Coverage

  • Insurance providers differ in their policies toward covering genetic testing costs 2
  • Consider cost implications when deciding between archiving and comprehensive testing
  • Sample letters to insurance providers supporting the clinical indication for genetic testing should be prepared 2

Preemptive vs. Reactive Testing

  • Preemptive testing (testing before a specific need arises) has several advantages over reactive testing 2:
    • Avoids delays in obtaining results when needed
    • Can be more cost-effective than multiple single-gene tests over time
    • Results are already available in the patient's medical record when needed for clinical decisions

Data Management Considerations

  • Proper archiving of genetic data is critical for future use 3, 4
  • Ensure that the genetic archiving service follows best practices for data storage and retrieval
  • Consider the completeness of metadata and contextual information provided with archived genetic data

Common Pitfalls to Avoid

  1. Ordering comprehensive testing when archiving would suffice

    • Leads to unnecessary costs and potential over-interpretation of variants of uncertain significance

  2. Relying on archived data without proper documentation

    • If documentation of previously archived genetic data is not available, repeat testing may be necessary 2

  3. Failing to obtain proper informed consent

    • Patients should provide informed consent for all tests included in a multiplex panel 2
    • If a patient does not consent to all tests in a panel, tests should be ordered individually

  4. Not considering the evolving nature of genetic testing

    • Genetic testing technology and interpretation are rapidly evolving
    • Archived genetic data may need to be reanalyzed as knowledge advances

By following this structured approach to deciding between Genosure Archive and Genosure Prime, clinicians can ensure appropriate use of genetic testing resources while maximizing benefits for patient care.

References

1
Guideline

Genetic Testing and Gene Therapy Guidelines

Praxis Medical Insights: Practical Summaries of Clinical Guidelines, 2025

2
Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

3
Research

Best practices for genetic and genomic data archiving.

Nature ecology & evolution, 2024

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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.

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