Myriad Genetics Launches FirstGene Multiple Prenatal Screen With Four Genetic Tests In One Blood Draw

Myriad Genetics, Inc., a leader in molecular diagnostic testing and precision medicine, has announced the full commercial launch of the FirstGene® Multiple Prenatal Screen, a new laboratory test designed to simplify prenatal genetic screening. The FirstGene screen is the only available lab test that performs four prenatal genetic screenings simultaneously from a single maternal blood sample collected as early as eight weeks of pregnancy. The test combines fetal chromosome screening, fetal single-gene screening, patient carrier screening, and fetal RhD screening into one integrated report, helping healthcare providers obtain comprehensive genetic information earlier in pregnancy.

The FirstGene screen is designed to streamline a prenatal screening process that has traditionally required multiple separate tests. Results are expected to be available in approximately 10 days, allowing clinicians to receive important genetic information sooner. By combining several guideline-supported screening methods into a single test order, the screen eliminates the need for a reproductive partner sample while providing healthcare providers with earlier and more complete information to support clinical decision-making during pregnancy. The test also demonstrates high analytical performance, with greater than 98% analytical sensitivity and greater than 99% analytical specificity.

Brian Donnelly, Chief Commercial Officer of Myriad Genetics, said the FirstGene screen represents a new generation of prenatal genetic screening by delivering a broad range of clinically relevant information from a single blood sample. He explained that providing four important prenatal genetic screening results in one test, along with a competitive turnaround time, enables clinicians to make informed decisions throughout pregnancy while simplifying the testing process for both healthcare providers and patients.

The FirstGene screen combines four separate genetic assessments into one laboratory assay. The fetal chromosome screening evaluates the risk of common chromosomal conditions, including Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), sex chromosome abnormalities, and 22q11.2 microdeletion, also known as DiGeorge syndrome. The fetal single-gene screening assesses the risk of 19 common recessive genetic disorders without requiring a sample from the reproductive partner. The patient carrier screening determines whether the pregnant individual carries genetic changes linked to 20 recessive conditions, including cystic fibrosis, spinal muscular atrophy, sickle cell disease, and fragile X syndrome. In addition, the fetal RhD screening evaluates RhD compatibility between the pregnant individual and the fetus, which can help identify pregnancies that may require additional clinical management.

According to Myriad Genetics, the FirstGene screen was developed through an extensive research and validation process that included analytical testing, product optimization, and continuous performance evaluation to ensure high levels of accuracy, reliability, and consistent laboratory performance. The company stated that the test's analytical validation has also been published in the journal “Clinical Chemistry”, supporting its scientific performance and reliability.

Dallas Reed, MD, Principal Medical Advisor at Myriad Genetics, said that timely access to prenatal genetic information is essential for both patients and healthcare providers. He noted that multiple appointments, repeated blood draws, and separate genetic tests can delay access to important clinical information during pregnancy. According to Dr. Reed, the FirstGene screen allows obstetricians and gynecologists to order several recommended prenatal genetic screenings from a single maternal blood sample, helping clinicians provide more complete information earlier in pregnancy and support well-informed discussions with patients about their prenatal care.