Cross-Border Genetic Testing

David BartonNational Centre for Medical Genetics,

Dublin, Irelanddavid.barton@ucd.ie

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

8

“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

2