Cross-Border Genetic Testing
David BartonNational Centre for Medical Genetics,
Dublin, [email protected]
5th European Conference on Rare Diseases, Krakow, Poland
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?
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
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
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
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
Orphanet Search
M. Morris, ICHG
EuroGentest / Orphanet quality assurance (QAu) database
Lieve Desmet Mike Morris Els Dequeker Mariana Jovanovic Nick Nagels
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“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
www.eurogentest.org
Jean-Jacques Cassiman, Leuven
Unit 1: Quality Management and Accreditation
WP1.5Biochemical
EQA
WP1.4Cytogenetics
EQA
WP1.3Molecular
EQA
WP1.9QM of EQAschemes
Laboratory Quality Management and Accreditation
Qualitymanagement
Dequeker, Morris
EQA SchemesReference systems & procedures
Validationof diagnostic tests
WP1.8Workshops
WP1.2QAu database
WP1.6Referencematerials
WP1.7Diagnostic validation
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.
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.
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
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.
MAM Paris 3/2010
Quality Assurance Survey Results (2004, n=326)
0%
25%
50%
75%
100%
<50 50-249 250-499 500-999 1000-3000 >3000
Accreditation vs. DNA reports 2004
0%
25%
50%
75%
100%
<50 50-249 250-499 500-999 1000-3000
>3000
EQA vs. DNA reports 2004
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
Quality Assurance Database: Orphanet Search
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?
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
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
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
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
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)
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
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
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
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