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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
Insights
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.
Introduction:
After a first survey in 2001, the Dutch Association of Hematological Laboratory Research (VHL) advised its members to adopt a basic protocol for haemoglobinopathy carrier detection and to provide genetic information with all positive results to allow health-care professionals to inform carriers about potential genetic risks. This article reports on the compliance with these recommendations and their consequences.
Methods:
Clinical chemists of all 106 Dutch laboratories were invited to answer a survey on patient population, diagnostic techniques used, (self-reported) knowledge, use and effect of the additional information.
Results:
The average increase in diagnostic output was over 60% and the recommended basic protocol was applied by 65% of the laboratories. Over 84% of the laboratories reported to be aware of the additional recommendations and 77% to be using them. Most laboratories with limited diagnostic requests were still sending their cases to other laboratories and included the genetic information received from these laboratories in their diagnostic reports. The effect of information on subsequent 'family analysis' was estimated to be between 26 and 50%.
Conclusions:
The present study shows an increase in diagnostic potential for haemoglobinopathy over the last decade, especially in the larger cities. Low 'family testing' rates were mostly found in areas with lower carrier prevalence or associated with local reluctance to pass the information to carriers. In spite of a dramatic improvement, too many carriers are still not informed because of lack of awareness among health-care providers and more education is needed.
