Carrier Screening Tests
CARRIER SCREENING TESTS (GENESCREEN)
Extraordinary advances in genomics and biotechnology in recent 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 insights from NGS are providing remarkable insights into genetic disorders. This advanced understanding eventually leads to advanced genetic testing and carrier screening tests, which 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 on inherited diseases to their children. GeneScreen ® uses advanced next-generation sequencing (NGS) technology that targets the nuclear and mitochondrial (mtDNA) genome. GeneScreen ® performs exon sequencing of all genes present in the panel, allowing for a more comprehensive analysis of individual genes and associated diseases. The GeneScreen® Carrier Screening Test provides comprehensive care and allows patients to make better informed reproductive decisions. Presenting a patient with GeneScreen® prior to pregnancy provides early insight into her reproductive health.
Routinely recommending expanded carrier screening, regardless of family history or ethnicity, is the only screening approach that is consistent and appropriate for all patients. In 2017, ACOG recommended expanded carrier screening as a viable screening strategy and recognised the need to make testing more widespread so that more patients benefit.
Many studies have shown that:
- In 80% of couples whose children are born with a recessive disorder; there is no finding in the parents.
- On average, each individual is a carrier of -2.8 pathogenic variants.
- Approximately 1 in 4 (24%) individuals are carriers of at least one 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 family history, and 1 in 240 carrier pairs had a high risk of having a child with a gene mutation.
This is why carrier screening tests are so important.