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Session 8 david_barton

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EURORDIS - Rare Diseases Europe
EURORDIS - Rare Diseases Europe
1 of 26
Cross-Border Genetic Testing David Barton National Centre for Medical Genetics, Dublin, Ireland [email_address] 5 th European Conference on Rare Diseases, Krakow, Poland
Questions ,[object Object],[object Object],[object Object],[object Object]
OECD MGT Survey 2003: Main Conclusions ,[object Object],[object Object],[object Object],[object Object],827 labs - 18 countries ≈ 1.1 million samples
OECD MGT Survey 2003: Main Conclusions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],827 labs - 18 countries ≈ 1.1 million samples
Why are samples sent across borders for testing? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Issues with cross-border GT ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Orphanet Search
EuroGentest / Orphanet quality assurance (QAu) database ,[object Object],[object Object],[object Object],M. Morris, ICHG
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],EuroGentest Network of Excellence Project 2005 EU Contract no. FP6-512148 www.eurogentest.org Jean-Jacques Cassiman, Leuven
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
Testing for rare/technically demanding disorders ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Genetics Quality Assurance (QAu) database ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Quality Assurance Survey Results (2004, n=326) MAM Paris 3/2010 Accreditation vs. DNA reports 2004 EQA vs. DNA reports 2004
Genetics Quality Assurance (QAu) database ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Current status of the QAu database (March 2010) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],MAM Paris 3/2010
Quality Assurance Database: Orphanet Search
451 1501 labs (22.3.2010) 252
QAu Database Future plans ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Quality through regulation ,[object Object],[object Object],[object Object],[object Object],[object Object]
EuroGentest Proposal ,[object Object],[object Object]
Issues with cross-border GT ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Survey April 2010 ,[object Object],[object Object],[object Object],Sent to presidents of all 42 national human genetics societies listed on ESHG web site
Reimbursement ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Data Protection ,[object Object],[object Object],[object Object]
Countries Approved by EU ,[object Object],[object Object],[object Object],[object Object]
The Future ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],2

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Session 8 david_barton

  • 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
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  • 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
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  • 13. Quality Assurance Survey Results (2004, n=326) MAM Paris 3/2010 Accreditation vs. DNA reports 2004 EQA vs. DNA reports 2004
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  • 16. Quality Assurance Database: Orphanet Search
  • 17. 451 1501 labs (22.3.2010) 252
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Editor's Notes

  1. 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%)