Myriad Genetics Announces Early Access to the FirstGene Multiple Prenatal Screen
Screening test provides prenatal risk assessment for common genetic conditions in one blood draw without the need for paternal testing
Early access via large-scale clinical study to establish the validity and utility of the FirstGeneTM screen
SALT LAKE CITY, June 03, 2025 (GLOBE NEWSWIRE) -- . (NASDAQ: MYGN), a leader in molecular diagnostic testing and precision medicine, 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 chromosomal aneuploidies (plus 22q11.2 microdeletion) and pathogenic mutations in 10 prevalent and severe recessive 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.
“We are excited for clinicians and patients to experience the transformative FirstGene screen, which offers a more complete genetic risk assessment in a streamlined process,” said Sam Raha, President and CEO, Myriad Genetics. “Our introduction of FirstGene in a large clinical study is meaningful progress towards expanding our prenatal portfolio and represents an important growth opportunity for Myriad.”
The FirstGene screen will be launched within the CONNECTOR study. With planned enrollment of more than 5,000 patients from multiple clinical sites, the study will evaluate the FirstGene screen in a real-world clinical setting. The FirstGene screen has already been rigorously tested and validated, achieving more than 98.6% sensitivity and 99.6% specificity across variants in both the fetus and the pregnant person.1 Analytical validation has been presented in numerous conference presentations, and a manuscript describing its performance has been submitted for publication.
“In order for the FirstGene screen to provide industry-leading ease of use while assessing such a broad range of fetal genomic anomalies, the assay requires highly complex molecular and bioinformatic workflows,” said Dale Muzzey, PhD, Chief Scientific Officer, Myriad Genetics. “We meticulously developed a suite of innovative and proprietary techniques to make this four-in-one genetic screen a reality, and I’m delighted to see it getting out into the world to deliver genetic insights to pregnant patients.”
About the FirstGene screen
The FirstGene screen includes:
- Fetal aneuploidy screening – common trisomies of chromosomes 13, 18, and 21, 22q11.2 microdeletion, and sex chromosome aneuploidies.
- 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 sickle 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 we believe it will deliver a more complete fetal genetic risk assessment faster than traditional screening methods,” said Melissa Gonzales, President, Myriad Women’s Health. “Importantly, the FirstGene screen technology enables prenatal screening without the need to test the male partner, as only 41.5% of male reproductive partners receive carrier screening when the pregnant person is known to be a carrier of an autosomal recessive condition.2”
More information is available at .
The FirstGene screen joins Myriad’s other industry-leading prenatal screens
Myriad offers three other genetic screens to those who are pregnant or are considering becoming pregnant:
- The identifies whether a pregnancy is at an increased risk for a wide variety of chromosomal conditions as early as eight weeks.
- The identifies those couples who have a chance of passing down serious inherited conditions.
- The predicts fetal sex as early as six weeks into pregnancy with greater than 99% accuracy.
For more information about the importance of prenatal screening, Myriad offers the “” website, which provides the benefits and dispels the common myths of prenatal genetic testing, as well as where to get screened and what actions can be taken in the instance of a high-risk result. The site features real-life patient stories to illustrate how prenatal screening can help parents-to-be manage their pregnancies.
About Myriad Genetics
Myriad Genetics is a leading molecular diagnostic testing and precision medicine company dedicated to advancing health and well-being for all. Myriad Genetics develops and offers molecular tests that help assess the risk of developing disease or disease progression and guide treatment decisions across medical specialties where molecular insights can significantly improve patient care and lower healthcare costs. For more information, visit .
Safe Harbor Statement
This press release contains “forward-looking statements” within the meaning of the Private Securities Litigation Reform Act of 1995, including that the Company's FirstGene screen large study will simultaneously deliver reports to patients while generating clinical validity and clinical utility evidence for this transformational new offering and the Company’s belief that the FirstGene screen will deliver a more comprehensive fetal genetic risk assessment faster than traditional screening methods . These “forward-looking statements” are management’s expectations of future events as of the date hereof and are subject to known and unknown risks and uncertainties that could cause actual results, conditions, and events to differ materially and adversely from those anticipated. Such factors include those risks described in the company’s filings with the U.S. Securities and Exchange Commission, including the company’s Annual Report on Form 10-K filed on February 28, 2025, as well as any updates to those risk factors filed from time to time in the company’s Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. Myriad is not under any obligation, and it expressly disclaims any obligation, to update or alter any forward-looking statements, whether as a result of new information, future events or otherwise except as required by law.
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1 Welker, N.C., Lee, A.K., Kjolby, R.A.S. et al. High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening. Genet Med (2020).
2 Prenatal Diagnosis 2020 Feb;40(3):311-316. doi: 10.1002/pd.5588. Epub 2019 Dec 2.
