Session 8 david_barton
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  • 326 different individuals from 168 institutes in 41 countries worldwide 25% attended more than one workshop Mainly molecular genetic testing laboratories (65%) Mix of accredited (31%) and non-accredited laboratories (59%)


  • 1. Cross-Border Genetic Testing David Barton National Centre for Medical Genetics, Dublin, Ireland [email_address] 5 th European Conference on Rare Diseases, Krakow, Poland
  • 2. Questions
    • How much cross-border genetic testing is happening?
    • Why are samples sent across borders?
    • Does this create any problems?
    • What should we do about it?
  • 3. OECD MGT Survey 2003: Main Conclusions
    • International exchange is widespread, particularly for rare disease testing.
        • 64% of labs received specimens from other countries
        • >18,000 samples crossed borders in 2002
    • MGT is provided under widely varying conditions and regulatory frameworks
    827 labs - 18 countries ≈ 1.1 million samples
  • 4. OECD MGT Survey 2003: Main Conclusions
    • Factors contributing to a high “Quality Score” (p<0.005):
        • Accreditation of the laboratory
        • Participation in proficiency testing
        • Director with formal training in molecular genetics
        • Affiliation with a Genetics Unit
    • The issue of greatest concern :
      • lack of internationally-agreed good practices for quality assurance
    827 labs - 18 countries ≈ 1.1 million samples
  • 5. Why are samples sent across borders for testing?
    • Test not available in home country
      • Smaller countries
      • Rarer diseases
      • Patent issues
    • Test available more cheaply abroad
    • Centralization of testing by multi-national pathology companies
  • 6. Issues with cross-border GT
    • Finding a test
    • Quality
      • How to find a high-quality lab
      • How to ensure all labs are high quality
    • Reimbursement
    • Data protection
  • 7. Orphanet Search
  • 8. EuroGentest / Orphanet quality assurance (QAu) database
      • Lieve Desmet Mike Morris
      • Els Dequeker
      • Mariana Jovanovic Nick Nagels
    M. Morris, ICHG
  • 9.
    • “ Network of networks”
      • 32 centres from 17 countries
      • Almost 200 additional expert networks, centres and participants
    • “ Genetic Testing in Europe
      • Network for test development, harmonization, validation and standardization of services”
    • “ Quality is the overall common denominator”
      • structure, harmonize and improve the overall quality of medical genetic testing services
    EuroGentest Network of Excellence Project 2005 EU Contract no. FP6-512148 Jean-Jacques Cassiman, Leuven
  • 10. Unit 1: Quality Management and Accreditation To measurably improve the quality of management and provision of genetic testing services for the benefit of the patients. Laboratory accreditation considered to be the norm. WP1.5 Biochemical EQA WP1.4 Cytogenetics EQA WP1.3 Molecular EQA WP1.9 QM of EQA schemes Laboratory Quality Management and Accreditation Quality management Dequeker, Morris EQA Schemes Reference systems & procedures Validation of diagnostic tests WP1.8 Workshops WP1.2 QAu database WP1.6 Reference materials WP1.7 Diagnostic validation
  • 11. Testing for rare/technically demanding disorders
    • How can you find a quality testing laboratory performing a particular test that is not available locally?
    • How can you select, for any particular diagnostic test, a laboratory with a strong quality system?
        • which are accredited?
        • which participate regularly in external quality assessment (EQA) schemes?
    • This information is important:
        • for consumers
        • for the general public and politicians
        • for the laboratories and quality institutions
  • 12. Genetics Quality Assurance (QAu) database
    • Objectives
      • For public
        • facilitate informed choice of laboratories
        • demonstrate the importance of QAu to genetic testing labs
      • For genetic services
        • allow the selection of partners for referral of tests
      • For the laboratories
        • valorize their efforts and investment in quality assurance.
  • 13. Quality Assurance Survey Results (2004, n=326) MAM Paris 3/2010 Accreditation vs. DNA reports 2004 EQA vs. DNA reports 2004
  • 14. Genetics Quality Assurance (QAu) database
    • Major Challenges
    • What is a “laboratory”?
    • How to identify diagnostic labs?
    • Permission to publish EQA participation data
    • Access to scopes
    • Updating
    • Data exchange
  • 15. Current status of the QAu database (March 2010)
    • 1501 genetic laboratories ( n diagnostic?)
      • 106 accredited for genetic testing (validated)
      • 419 performing genetics EQA (validated)
    • Data concerning 52 EQA providers (47 validated)
      • 443 EQA schemes/analytes
      • 693-1072 participations/year (mean 4.7/lab)
    MAM Paris 3/2010
  • 16. Quality Assurance Database: Orphanet Search
  • 17. 451 1501 labs (22.3.2010) 252
  • 18. QAu Database Future plans
    • Sustainability
      • Solved:
        • Linked to Orphanet
        • Validation based in Leuven.
    • Close collaborations
      • Orphanet Paris & Orphanet national partners
      • EQA providers
      • Accreditation bodies & EA
    • Challenges
      • Data exchange
      • Broader coverage of countries
      • Identify diagnostic labs
      • Updates
        • Responsibilities
      • What is a lab?
  • 19. Quality through regulation
    • No EU-wide regulation of test quality
    • No mandatory accreditation
    • CE Marking covers IVD Devices but:
      • All new tests/devices are treated as low-risk
      • Health Institution exemption widely used, even for common tests
  • 20. EuroGentest Proposal
    • The Health Institution exemption from CE-marking should be retained in the revised IVD Directive, but it should be restricted to laboratories accredited to ISO 15189 or equivalent standard.
      • = mandatory accreditation for all rare disease testing laboratories
  • 21. Issues with cross-border GT
    • Finding a test
    • Quality
      • How to find a high-quality lab
      • How to ensure all labs are high quality
    • Reimbursement
    • Data protection
  • 22. Survey April 2010
    • Are you permitted to send tests abroad?
    • Are the costs for testing abroad paid by your health system/insurance?
    • Is there national legislation on sending personal data with samples?
    Sent to presidents of all 42 national human genetics societies listed on ESHG web site
  • 23. Reimbursement
    • Patchwork of different national policies, matching differences in health funding
    • No reimbursement in CH for tests sent abroad
    • Only tests not available in NL are reimbursed if sent abroad
    • Restricted funds available (N)
    • Special committee, it’s complicated (HR)
    • Rarely reimbursed (BK)
  • 24. Data Protection
    • EU Principle:
    • Personal data shall not be transferred to a country or territory outside the EEA unless that country or territory ensures an adequate level of protection for the rights and freedoms of data subjects in relation to the processing of personal data.
    • OECD Principle: Other way round, same effect
  • 25. Countries Approved by EU
    • Switzerland, Canada, Argentina, Guernsey, Isle of Man
    • United States Department of Commerce's Safe Harbor Privacy Principles
      • HR data
    • Samples sent elsewhere should be coded
  • 26. The Future
    • More centralization of testing
    • More cross-border testing
    • More DNA sequencing
    • Centralized DNA sequencing, local interpretation?
    • More data protection issues
    • More regulation of genetic testing
    • Better information for doctors and patients