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Three of the conditions most frequently recommended for carrier screening are cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS). While conventional screening tests for these conditions have tended to deliver uneven results across ancestries, the public release of data from diverse large-scale genomic studies has now made it possible to identify relevant genetic alterations across populations.

By incorporating this information into carrier screening tests, and by building these tests with advanced technology capable of detecting all relevant genetic information regardless of complexity, modern carrier screening can deliver reliable results for all patients.

This educational guide is intended to inform clinicians and their clinical lab partners about potential gaps in genetic information from often-used tests for CF, SMA, and FXS, and how to provide more comprehensive and reliable information for all patients.

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