Fulgent Genetics, Inc. announced the immediate availability of their new Beacon787 expanded carrier screening panel. Beacon787 will include a total of 787 genes associated with autosomal recessive and X-linked conditions. Included in this panel are all of the American College of Medical Genetics and Genomics (ACMG) tier 3 genes, which ACMG published in their latest practice guideline for carrier screening, recommending that all pregnant patients and those planning a pregnancy be offered this set of genes as an equitable, pan-ethnic screening approach.

The ACMG list includes genes with carrier frequency of >1/200 for autosomal recessive conditions and disease prevalence of >1/40,000 for X-linked conditions. Leveraging Fulgent's proprietary platform and informatics, Beacon frequently excels as it relates to analytical detection rates, ability to discern pseudogenes, and reliable copy number calls. Fulgent's optimized workflow for variants with pseudogene interference has been validated and externally published as a method for analysis of genes with pseudogene interference and/or sequence homology issues, allowing for improved testing accuracy.

This method also optimizes the turnaround time and reduces the need for unnecessary confirmatory testing to identify point mutations, copy number variants, and gene conversion events in genes with pseudogene interference that other labs may not be able to detect. Using this pipeline, Fulgent can quickly distinguish positive and negative cases with NGS sequence misalignment and avoid testing delays due to redundant confirmatory testing. In contrast, most bioinformatics methods do not discriminate genomic regions with extensive sequence homology, which can lead to false negative or false positive variant calls, and/or produce incorrect copy number calls due to misalignment of reads.

Fulgent's bioinformatics algorithms compare read depth between homologous regions to identify sequence misalignment. Carrier screening assesses the risk for individuals and couples to pass on certain genetic conditions to their children. This testing is for women or couples who are currently expecting, considering pregnancy, or planning to become pregnant in the future.

Most often, carriers for these conditions do not have symptoms or a positive family history of disease. Carrier screening can identify these otherwise unknown risks and allow patients to make informed decisions about family planning. The American College of Obstetricians and Gynecologists (ACOG) recommends offering carrier screening to all women who are considering pregnancy, regardless of ethnicity or family history.