Optimized hemophilia care requires rapid, accurate, and high-quality genetic testing, but access to these tests varies across the European Union, according to a recent study.
Equitable access to genetic testing for hemophilia across Europe varies and needs to be improved, according to the authors of a recent analysis.
Writing in Haemophilia, the researchers, located in Belgium, said they wanted information about accessible, online laboratory facilities in the European Union (EU) for genetic hemophilia testing, including the laboratories’ performance in updating data, quality control, variants analyzed, techniques used, turnaround time (TAT), and costs.
Specifically, they were interested in the spectrum of variants in the F8 (Xq28) or F9 (Xq27.1) genes, both located on the X chromosome.
“Genetic assessment of haemophilia is paramount to investigating disease biology, establishing diagnosis in difficult cases, predicting the risk of inhibitor development, and identifying female carriers, in addition to enabling prenatal diagnosis,” the authors wrote, adding that for stakeholders, it is important “that resources able to centralize information on genetic tests for haemophilia within a standardized environment be made available.”
They cited 2 international genetic databases, which they used in their analysis, in order to find more specific information about what is available in EU countries. One is Orphanet and another is the NCBI Genetic Testing Registry. They also collected and analyzed data from laboratory websites, PubMed, and government organizations.
The authors excluded laboratories that did not have a website, did not have a website with a translated version in English, did not mention molecular analyses, did not include the analysis of 1 of the 2 hemophilia genes, or had no recent update in the major international databases.
The analysis included 51 genetic laboratories across 15 European countries with recently updated molecular testing for hemophilia; most of the laboratories provided gene sequencing for small variants of both F8 and F9 genes.
“Almost two-thirds of them offer analysis for inversions using a polymerase chain reaction method and detection of copy number variation using multiplex ligation-dependent probe amplification (MLPA),” the researchers wrote.
Few laboratories provided costs. Of those that did, they ranged from 121€ to 508.76€ for F8 and from 135€ to 1793.6€ for inversions. The variation for F9 was similar.
For TAT, half of the labs provided estimates, but since those methods lacked standardization, understanding the true time to get results was difficult to interpret. Some laboratories established the TAT by business days, days, weeks, or months, and times varied from 1 to 2 weeks to 60 days for inversion analysis results, 15 to 120 working days for sequencing/MLPA results, and up to 4 to 6 months for all results.
Almost three-quarters of laboratories showed a last modified date or change history, which is “considered a guarantee of the test’s reliability in a domain where technologies and resources rapidly evolve.” Similarly, most facilities held an ISO 15189 standard accreditation for genetic laboratories, but only a few participated in external quality assessment.
Notably, labs in Eastern European countries lagged the most, the analysis found. Overall, across the EU, finding data “is still difficult and time consuming.”
Lannoy N, Hermans C. Accessibility and visibility of genetic testing for haemophilia across Europe: where do we stand? Haemophilia. Published online October 12, 2022. doi:10.1111/hae.14672