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Basic haemoglobinopathy diagnostics in Dutch laboratories; providing an informative test result
J O Kaufmann1, J W Smit, W Huisman
1Hemoglobinopathies Laboratory, LDGA, Clinical Genetics, Leiden University Medical Center, The Netherlands. j.o.kaufmann@lumc.nl
International Journal of Laboratory Hematology
|December 18, 2012
Summary
Dutch laboratories increased haemoglobinopathy carrier detection by over 60% following VHL recommendations. However, improved genetic information sharing is still needed to ensure all carriers are informed of potential risks.
Area of Science:
- Medical Laboratory Science
- Genetics
- Public Health
Background:
- The Dutch Association of Hematological Laboratory Research (VHL) recommended a standardized protocol for haemoglobinopathy carrier detection in 2001.
- Positive results were to be accompanied by genetic information to inform carriers of potential risks.
Purpose of the Study:
- To assess compliance with VHL recommendations for haemoglobinopathy carrier detection.
- To evaluate the consequences of these recommendations on diagnostic practices and patient information.
Main Methods:
- A survey was distributed to 106 Dutch laboratories to gather data on patient populations, diagnostic techniques, and the use/effect of genetic information.
- Data collected included diagnostic output, protocol adherence, awareness of recommendations, and impact on family analysis.
Main Results:
- Diagnostic output for haemoglobinopathy increased by over 60% in Dutch laboratories.
- 65% of laboratories adopted the recommended basic protocol, with 77% using the additional genetic information.
- An estimated 26-50% increase in 'family analysis' was observed due to the information provided.
Conclusions:
- Significant improvements in haemoglobinopathy diagnostic potential have occurred, particularly in urban areas.
- Low 'family testing' rates were linked to lower carrier prevalence or reluctance to share information.
- Further education for healthcare providers is necessary to ensure all carriers receive crucial genetic risk information.
