Choosing an expanded carrier screening panel: comparing two panels at a single fertility centre

Area of Science:

• Reproductive genetics
• Genetic screening technologies

Background:

• Expanded carrier screening (ECS) is crucial for identifying individuals at risk of passing on genetic disorders.
• Variations in ECS panel content across laboratories can lead to differing carrier detection rates.

Purpose of the Study:

• To investigate the factors contributing to similarities and differences in carrier rates between two distinct ECS panels.
• To compare carrier detection rates, carrier couple rates, and identified genetic disorders between Panel A and Panel B.

Main Methods:

• Retrospective cross-sectional study of 7700 infertility patients undergoing ECS.
• Comparison of carrier rates, carrier couple rates, and disorder identification between two genetic testing laboratories (Panel A and Panel B) using genotyping microarrays.
• Analysis of self-reported ethnicity to assess differences across demographic groups.

Main Results:

• Panel B exhibited significantly higher overall carrier rates (43.3%) compared to Panel A (29.4%).
• Carrier couple rates also differed significantly between the panels (3.1% vs. 1.2%).
• Differences in carrier rates were primarily attributed to the unique content of each panel, not shared mutations, affecting both the general population and specific ethnicities.

Conclusions:

• Carrier rates identified by ECS panels are highly dependent on the specific content of the panel used.
• Expanded panel content and integration of preconception carrier screening with genetic counseling are recommended for assisted reproduction practices.
• Standardization or clear reporting of panel content is essential for accurate genetic risk assessment.