Carrier Screening Tests (GENESCREEN)

Extraordinary advances in genomics and biotechnology in the last few years have paved the way for reading and understanding information about the human genome. In particular, a new sequencing technology called Next Generation Sequencing (NGS) is making DNA analysis more comprehensive, easier and more effective.

Increasing knowledge from NGS provides remarkable insight into genetic disorders. This advanced understanding eventually translates into advanced genetic testing and carrier screening tests that provide the impetus for broader and more comprehensive screening for genetic diseases. GeneScreen® is a carrier screening test that identifies couples at risk of passing inherited disorders to their children. GeneScreen ® uses advanced next-generation sequencing (NGS) technology that targets nuclear and mitochondrial (mtDNA) genomes. GeneScreen ® performs exon sequencing of all genes present in the panel, allowing for more comprehensive analysis of each gene and related diseases. The GeneScreen® Carrier Screening Test provides comprehensive care and enables patients to make more informed reproductive decisions. Presenting GeneScreen® to a patient prior to pregnancy provides early insight into their reproductive health.

The routine recommendation of extended carrier screening, regardless of family history or ethnicity, is the only screening approach that is consistent and appropriate for all patients. In 2017, the ACOG recommended extended carrier screening as a viable screening strategy and recognized the need for testing to become more widespread to benefit more patients.

Many studies have shown that: • In 80% of couples who have children born with a genetic recessive disorder; there is no finding in the parents. • Each individual is an average of -2.8 pathogenic variant carriers. • Approximately 1 in 4 (24%) people are carriers of at least 1 gene mutation and 1 in 20 (5.2%) are carriers of multiple gene mutations. • 1 in 20 (5%) carriers of gene mutations, 88% had no previous family history, and 1 in 240 had carrier couples at high risk of having a child with a gene mutation.

That's why carrier screening tests are important.

Unlike other carrier screening tests that use targeted sequencing, GeneScreen® performs full exon sequencing of all genes in the panel, allowing for more comprehensive analysis of each gene and related diseases. It detects deletions across the analyzed genes with its unique detection rate, as well as in genes related to commonly selected conditions.

DNA isolated from peripheral blood is then amplified by PCR. Genes are fully sequenced (exons and adjacent intronic regions) through a state-of-the-art technological process called mass parallel sequencing (MPS) using Next Generation Sequencing (NGS) techniques with ILLUMINA sequencing devices. Advanced bioinformatics solutions are used to check for the presence of potential mutations in the investigated genes.