FirstGene Study Demonstrates High Analytical Sensitivity and Specificity for Each Component of the Test
SALT LAKE CITY, Feb. 19, 2026 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ:MYGN), a leader in molecular diagnostic testing and precision medicine, announced the publication of the analytical validation of the FirstGene® Multiple Prenatal Screen in Clinical Chemistry. The study showed that each component of the test had exceptional sensitivity and specificity.
Titled "Simultaneous prenatal cfDNA screening of aneuploidy, recessive single-gene conditions, and fetomaternal blood compatibility," the study used nearly 500 samples to assess the multiple components of the FirstGene screen, including fetal aneuploidy testing, RhD compatibility, and recessive condition status in the pregnant person and fetus, including 19 prevalent and severe conditions. It found that every component of the test had ≥98.2% analytical sensitivity and ≥99.0% analytical specificity.
"The FirstGene screen was designed as an integrated, multifaceted solution that analyzes key aspects of the maternal and fetal genomes simultaneously," said Dale Muzzey, PhD, Chief Scientific Officer, Myriad Genetics. "For clinicians to have confidence in, and consider acting on, FirstGene results, it is important that every component of the assay have strong accuracy and reproducibility, which is why we undertook extensive analytical validation. Our analysis adds important evidence in the rapidly evolving landscape of prenatal screening tests, particularly because it provides a thorough characterization of the ability to call fetal recessive genotypes—even technically challenging variants—with high accuracy."
"Like our Prequel test, the FirstGene screen employs fetal-fraction amplification to improve accuracy," said Dr. Muzzey. "This publication describes how that approach, together with a novel trajectory analysis algorithm developed for the FirstGene screen, can help further enhance genotype resolution. Publishing these results marks an important milestone on the path to broad commercialization."
About the FirstGene Multiple Prenatal Screen
Medical society guidelines recommend aneuploidy screening, recessive screening, and fetomaternal antigen testing.1-3 However, fewer than half of pregnancies in the US receive screening for each of these recommended modalities individually, which may be driven in part by the logistical difficulty of administering the tests.4-6 The FirstGene screen aims to streamline prenatal genetic risk assessment by combining each of these testing modalities into a single assay.
The FirstGene screen is currently being used in the CONNECTOR study, a large, multi-site, prospective clinical study designed to evaluate test performance in real‑world clinical practice. The study is designed to generate evidence to support clinical validity and clinical utility across the multiple components of the assay as FirstGene advances toward full commercial launch.
The FirstGene screen will be conducted in-house at Myriad's laboratories using a single blood draw from the pregnant person. More information is available at FirstGeneScreen.com.
1. ACOG Practice Bulletin Summary, No. 226: Screening for fetal chromosomal 385 abnormalities. Obstet Gynecol 2020;136(4):859-67. 386;
2. ACOG Committee Opinion No. 691: Carrier screening for genetic conditions 2017. 387
3. Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, et al. Screening 388 for autosomal recessive and X-linked conditions during pregnancy and preconception: a 389 practice resource of the American College of Medical Genetics and Genomics (ACMG). 390 Genet Med 2021;23,1793-1806.
4. Prenatal Diagnosis 2020 Feb;40(3):311-316. doi: 10.1002/pd.5588. Epub 2019 Dec 2
5. Journal of Genetic Counseling. 2021 Apr;30(2):470-477. doi: 10.1002/jgc4.1333. Epub 2020 Oct 3
6. Prenatal Diagnosis. 2021 Jun;41(7):896-904. doi: 10.1002/pd.5900. Epub 2021 Feb 8
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 www.myriad.com.
Myriad Genetics Safe Harbor Statement
This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements that publishing these results marks an important milestone on the path to broad commercialization of FirstGene, that the CONNECTOR study is designed to generate evidence to support clinical validity and clinical utility across the multiple components of the assay as FirstGene advances toward full commercial launch, and that the FirstGene screen aims to streamline prenatal genetic risk assessment by combining each of the above mentioned testing modalities into a single assay. 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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