Survey - Quality Assurance in European Human Molecular Genetic Testing Laboratories

Aims of the survey

The study seeks to:

• Provide an overview of the settings in which human molecular genetic testing (HMGT) is available.
• Assess the perception of accreditation amongst HMGT laboratories and, in particular, evaluate the knowledge of, experience with and attitudes towards accreditation.
• Assess laboratories’ use of quality assessment schemes, reference materials and other quality indicators.
• Make a substantial contribution to, and update, the literature currently available related to the topic.
• Assess suitability of guidelines and generate further guidance.

 

Scope of the survey

The description “human molecular genetic testing laboratories”, for the purpose of this survey, encompasses laboratories that conduct nucleic acid based testing for molecular genetic hereditary diseases (constitutional), molecular oncology (somatic) and pharmacogenetics.
This does not include laboratories that only test for molecular microbiology, infectious diseases, cytogenetics or biochemical genetics.

The geographical scope of this study includes more than 2000 laboratories in 34 European countries: Austria, Belgium, Bosnia, Croatia, Cyprus, Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Lithuania, Latvia, Macedonia, Malta, Netherlands, Norway, Poland, Portugal, Romania, Russia, Serbia, Spain, Sweden, Switzerland, Slovakia, Slovenia, Turkey, United Kingdom and Ukraine.

 

Selection of participants

The sample has been selected from a list of registered users of the online resource Orphanet. This is a website for rare diseases, orphan drugs and related services. It has the most comprehensive list of European laboratories currently available.

 

Institutional framework and funding

The survey is being carried out by EuroGentest - Network of Excellence which is funded under the Sixth Framework of the European Commission. The survey is organised by members of the Biomedical Quality Assurance Research Unit and coordinated from the Department of Human Genetics, University of Leuven, Belgium.

 

Confidentiality

All data collected as part of the survey will be treated as strictly confidential.
Identifiers will be used only for administrative purposes like reminders and thank you emails. All identifying data will be kept on a secure computer and results will only be reported in aggregate, anonymised categories.

 

Participation and withdrawal from this study

Your participation in this study is voluntary. If you choose to withdraw from the study while you are completing the questionnaire you may do so using the ‘opt-out ‘ button in the invitation email. If you choose to withdraw from the sample once you have completed the questionnaire we will make every effort to remove your response from the data set. However once the data has been analysed it will be difficult to do this.

 

You want to participate in the survey, but did not receive a unique link?

Please use the following link to fill out the survey: http://www.surveymonkey.com/s/NCVTSZ3

 

Communication of results

The results will be published in a scientific paper. 
The survey is part of a doctoral research project on the evolution of quality assurance in genetic testing services throughout Europe.

 

Contact details

The survey project team is: Sarah Berwouts, Prof. Els Dequeker and Kate Fanning.
The survey project collaborators are: Dr. Mike Morris, Prof. Jean-Jacques Cassiman, Prof. Gert Matthijs.
For further information on the questionnaire or the survey please contact

Last changed: 2010-05-25