Pharmacogenomic Data Submissions in Drug Development and Biomarker Classification

What You Need to Know? 👇

What is the difference between pharmacogenetic and pharmacogenomic tests in medical device development?

Pharmacogenetic tests study DNA sequence variations affecting drug absorption and disposition, while pharmacogenomic tests examine whole-genome variations, SNP maps, or gene expression changes correlated with therapeutic response.

When must pharmacogenomic data be submitted to an IND application?

Submission is required when test results are used for clinical trial decisions, support scientific arguments about drug mechanisms, or constitute known valid biomarkers for safety outcomes.

What constitutes a valid biomarker for regulatory decision-making purposes?

A valid biomarker requires well-established analytical test performance characteristics and an established scientific framework explaining the physiologic, toxicologic, pharmacologic, or clinical significance of results.

How does FDA handle voluntary genomic data submissions (VGDS) in regulatory reviews?

FDA will not use VGDS data for regulatory decision-making. The Interdisciplinary Pharmacogenomics Review Group reviews submissions for scientific and informational purposes only, not regulatory decisions.

What are the GLP requirements for pharmacogenomic studies supporting drug applications?

Part 58 GLP requirements apply to nonclinical pharmacogenomic studies intended to support regulatory safety findings. Exploratory studies eligible for abbreviated reports or VGDS don’t fall under GLP requirements.

Can pharmacogenomic data from approved products be submitted voluntarily to FDA?

Yes, exploratory pharmacogenomic data from approved NDAs/BLAs can be submitted as VGDS, though only known/probable valid biomarkers must be submitted in annual reports per regulations.

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What You Need to Do 👇

Recommended Actions

1. Determine if pharmacogenomic data qualifies as known valid, probable valid or exploratory biomarker
2. For required submissions:
   • Submit complete reports for data used in decision-making
   • Submit abbreviated reports for known/probable valid biomarkers
   • Include in protocols/informed consent if collecting samples
3. For voluntary submissions:
   • Use VGDS process and cover sheet
   • Provide sufficient detail for FDA analysis
   • Mark clearly as voluntary submission
4. For labeling:
   • Submit complete information if data will be included
   • Consider co-development of diagnostic tests if needed
5. Establish processes to:
   • Document test validation status
   • Track biomarker qualification
   • Manage data quality and analysis
   • Archive raw data and results

Key Considerations

Clinical testing

• Pharmacogenomic test results used for clinical trial decisions must be submitted (e.g., dose selection, entry criteria, safety monitoring)
• Known valid biomarkers for clinical outcomes must be submitted
• Probable valid biomarkers for human safety studies must be submitted

Non-clinical testing

• Animal study results using pharmacogenomic data for safety assessment must be submitted
• GLP compliance required for non-clinical studies intended to support safety findings

Software

• Standards for transmission, processing and storage of microarray data should be defined
• Bioinformatics tools and software used should be documented

Labelling

• Pharmacogenomic data intended for drug labeling must be submitted as complete reports
• Labels may include information about dose adjustment by genotype or potential side effects in certain genotypes

Safety

• Pharmacogenomic data relevant to safety assessment must be submitted
• Known valid biomarkers for safety outcomes must be submitted
• Probable valid biomarkers for safety should be submitted

Other considerations

• Voluntary submissions encouraged for exploratory/research data
• Format and content should allow FDA to independently analyze data
• Clear distinction between known valid, probable valid and exploratory biomarkers
• Sample collection for potential analysis must be noted in protocols and informed consent

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Relevant Guidances 🔗

• Electronic Records and Electronic Signatures - Scope and Application
• Content of Premarket Submissions for Device Software Functions
• Dual Use Molecular Diagnostic Instruments with FDA-Approved and Non-Approved Functions
• In Vitro Companion Diagnostic Devices: Development, Review Process, and Labeling Requirements

Related references and norms 📂

• 21 CFR Part 58: Good Laboratory Practice for Nonclinical Laboratory Studies
• 21 CFR Parts 312, 314, 601: Regulations for IND, NDA and BLA submissions

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Original guidance

• Pharmacogenomic Data Submissions in Drug Development and Biomarker Classification
• HTML / PDF
• Issue date: 2005-03-01
• Last changed date: 2020-04-27
• Status: FINAL
• Official FDA topics: Medical Devices, Good Clinical Practice (GCP), Drugs, Biologics, Administrative / Procedural
• ReguVirta ID: cb7d3672d714658bdc7a5d9504def852