Myriad Genetics, Inc. announced early access to the FirstGeneTM Multiple Prenatal Screen. The company will begin a large study that will simultaneously deliver reports to patients, while generating clinical validity and clinical utility evidence for this transformational new offering. The FirstGene screen streamlines the prenatal genetic risk assessment by combining several testing modalities into a single assay, making guideline-driven testing available to more patients.
The screen identifies carrier status for the pregnant person; simultaneously, it finds if the fetus is at risk of genetic anomalies, including chromososomal aneuploidies (plus 22q11.2 microdeletion) and pathogenic mutations in 10 prevalent and severe excessive conditions. The FirstGene screen also evaluates RhD compatibility between the pregnant patient and the fetus. Because the assay can directly identify the genotype of a fetus using cell-free DNA from the pregnant person, a sample from the paternal reproductive partner is not necessary.
Fetal recessive disease screening - prevalent, severe inherited conditions including cystic fibrosis, spinal muscular atrophy, Hb Bart disease, beta globin-related hemoglobinopathy (including beta thalassemia and sick cell), Tay Sachs disease, congenital disorder of glycosylation, PMM2-related, medium chain acyl-CoA dehydrogenase deficiency, Canavan disease, Smith-Lemli-Opitz syndrome, and phenylalanine hydroxylase deficiency (PKU). Pregnant person carrier screening - the same conditions as above, plus fragile X syndrome. RhD compatibility - RhD copy-number measurement to find incompatibility between the pregnant patient and fetus.
The FirstGene screen will be completed in-house at Myriad's laboratories, with all four portions of the screen running concurrently in one assay. As a result, the FirstGene screen will require fewer blood draws, and believe it will deliver a more complete fetal genetic risk assessment faster than traditional screening methods.
