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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

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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.

Keywords:

Carrier testing diagnostic report genetic counselling haemoglobinopathy information prevention

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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.