Questions? 10 seconds to sign up
Join the platform
Need Regulatory Help? Try Our Platform
Post your regulatory questions or request quotations from verified pharmaceutical consultants worldwide. Get matched with experts who specialize in your market.
March 11, 2026
Approximately 5 minutes
Legislation Notice on DNA Sequencers and Related Products for Genetic Testing Systems in Japan
1. Publication Details
Issued April 28, 2016. Joint notification: PSEHB/MDRMPED Notification No. 0428-1 and PSEHB/CND Notification No. 0428-1, Pharmaceutical Safety and Environmental Health Bureau, Ministry of Health, Labour and Welfare (MHLW). https://www.pmda.go.jp/files/000214376.pdf
2. Background and Policy Intent
Advances in nucleic acid analysis enable determination of DNA base sequences from biological specimens for disease diagnosis, including companion diagnostics for pharmaceutical administration decisions. This notice clarifies the regulatory position under the Pharmaceuticals and Medical Devices Law (Act No. 145 of 1960) for DNA sequencers and related products used in genetic testing systems, requesting cooperation from businesses and medical institutions. The notice is subject to future updates based on technological advancements. https://www.pmda.go.jp/files/000214376.pdf
3. Target Products
DNA sequencers, etc., manufactured and marketed for diagnosing, treating, or preventing diseases under the Pharmaceuticals and Medical Devices Law. https://www.pmda.go.jp/files/000214376.pdf
4. Definitions
- DNA sequencer: Device and operating program that determines and outputs DNA sequences from extracted nucleic acid or amplified/concentrated regions.
- Sequencing sample preparation reagent: Reagents required for DNA sequencing regardless of genetic variations tested, including library preparation for bioinformatics.
- Template DNA preparation reagent: Primer sets and related reagents (excluding sequencing sample preparation reagents) for amplifying/concentrating specific DNA regions for disease diagnosis.
- Software for bioinformatics analysis: Software that identifies clinically significant variants (including fusions, insertions, deletions, polymorphisms) by comparing sequence data with databases.
- DNA sequencer diagnostic system: Entire system comprising the above components. https://www.pmda.go.jp/files/000214376.pdf
5. Eligibility Criteria and Classification
Products are classified as medical devices or in vitro diagnostics based on intended use, genetic variations tested, package inserts, and advertising claims. Genetic testing devices for disease-causing genes or pharmaceutical target populations are generally regulated. Even without explicit disease claims, use for diagnosis during review triggers regulation. DNA sequencers combined with bioinformatics software are active medical devices (not Class I gene analysis equipment) requiring marketing authorization; MHLW will deliberate new non-proprietary names. Sequencing sample preparation reagents are components of DNA sequencers; template DNA preparation reagents are in vitro diagnostics; bioinformatics software is medical device software. Combined systems by one holder may be authorized as one combination medical device. https://www.pmda.go.jp/files/000214376.pdf
6. Approval Application and Review Expectations
Marketing authorization applications must be submitted for regulated DNA sequencers and systems. Comprehensive and individual applicability is assessed. https://www.pmda.go.jp/files/000214376.pdf
7. Practical Considerations for Research-Use Devices
For medical institutions establishing diagnostic systems with approved reagents/software and existing research-use DNA sequencers, confirm compatibility. Maintenance/repair of research-use sequencers does not constitute medical device sales/repair. https://www.pmda.go.jp/files/000214376.pdf
8. Handling of Variants of Uncertain Clinical Significance
Systems may detect variants of uncertain significance. Detection is ineligible for approval; results may be provided as reference only if physicians deem necessary, with clear warnings that clinical significance and analytical validity are unknown. Displaying unapproved variants in labels, inserts, or advertisements violates the Pharmaceuticals and Medical Devices Law (Articles 54/66). https://www.pmda.go.jp/files/000214376.pdf
9. Developer and Institutional Responsibilities
Widely disseminate this notice to related businesses and medical institutions. Use approved components for clinical diagnosis; ensure proper information provision. https://www.pmda.go.jp/files/000214376.pdf
10. Effective Date
Issued April 28, 2016; subject to modification based on future technological advancements or knowledge accumulation. https://www.pmda.go.jp/files/000214376.pdf
ElendiLabs Regulatory Affairs Team
100+ products successfully registered across global markets. Get unbeatable quotations and expert answers — fast.
Ask Anything
We'll follow up with you personally.
Related Articles
Approximately 5 minutes
Revised Points to Consider for Biomarker-Based Drug Approvals from Investigator-Initiated Trials in Rare Cancer Patients in Japan
PMDA revised its points to consider allowing partial change approval applications for biomarker-based drugs developed via investigator-initiated trials in rare cancer patients before companion diagnostics (CDx) approval, under conditions ensuring equivalent efficacy and safety via approved tests or alternatives, effective March 19, 2024.
Approximately 5 minutes
Technical Guidance on Development of In Vitro Companion Diagnostics and Corresponding Therapeutic Products in Japan
PMDA's 2013 technical guidance facilitates simultaneous development and approval of in vitro companion diagnostics and corresponding therapeutic products for personalized medicine, covering biomarker patient identification, clinical trial design, validation timing, concordance studies, and analytical performance requirements to ensure efficacy and safety.
Approximately 5 minutes
Q&A on Handling of In Vitro Companion Diagnostics and Corresponding Therapeutic Products in Japan
PMDA’s 2013 Q&A clarifies contemporaneous approval applications, clinical trial notifications, review coordination, package insert requirements, and developer cooperation for in vitro companion diagnostics (CoDx) and corresponding therapeutic products to support safe personalized medicine.