The UK National External Quality Assessment Scheme for heritable bleeding disorders

Area of Science:

• Medical Genetics
• Molecular Diagnostics
• Quality Assurance in Healthcare

Background:

• Molecular genetic analysis is crucial for diagnosing heritable bleeding disorders like hemophilia.
• External quality assessment (EQA) schemes are mandatory for UK genetic testing laboratories.
• The UK NEQAS for heritable bleeding disorders has operated since 2003, involving international participants.

Purpose of the Study:

• To evaluate the performance of laboratories in molecular genetic testing for heritable bleeding disorders.
• To assess the quality and format of reports generated by participating laboratories.
• To identify common reasons for failure in genetic testing assessments.

Main Methods:

• Circulation of whole blood or DNA samples for genetic analysis twice annually.
• Participants analyze samples, focusing on genes like F8, F9, and VWF, within a 6-week timeframe.
• Expert panel assessment of submitted laboratory reports for accuracy and interpretation.

Main Results:

• The majority of laboratories successfully passed the quality assessment exercises.
• Common failure reasons included clerical errors, genotyping inaccuracies, and data misinterpretation.
• An overall improvement in the quality and conciseness of submitted reports was observed.

Conclusions:

• The UK NEQAS program effectively monitors and improves the quality of molecular genetic testing for heritable bleeding disorders.
• Enhanced report formats are providing valuable information for clinicians and genetic counselors.
• Continuous participation and assessment are vital for maintaining high standards in genetic diagnostics.