Myriad Genetics published validation results for FirstGene® prenatal screening, highlighting high sensitivity and specificity across multiple tested conditions.
Quiver AI Summary
Myriad Genetics, Inc. has announced the analytical validation results of its FirstGene® Multiple Prenatal Screen, demonstrating high sensitivity and specificity across its components with results showing ≥98.2% analytical sensitivity and ≥99.0% analytical specificity. The study, published in Clinical Chemistry, evaluated nearly 500 samples for fetal aneuploidy, RhD compatibility, and recessive condition status. The FirstGene screen is designed to streamline prenatal genetic risk assessment by combining multiple testing modalities into a single assay, making it easier for clinicians to provide comprehensive care. The test is currently being evaluated in the CONNECTOR study, aimed at establishing its clinical validity and utility before a full commercial launch. Myriad Genetics aims to enhance patient care through its advancements in molecular diagnostics.
Potential Positives
- Publication of the analytical validation results for the FirstGene® Multiple Prenatal Screen demonstrates high levels of analytical sensitivity (≥98.2%) and specificity (≥99.0%), reinforcing the test's reliability for prenatal screening.
- The FirstGene screen integrates multiple testing modalities into a single assay, potentially streamlining the process of prenatal genetic risk assessment and improving accessibility.
- The forthcoming CONNECTOR study aims to evaluate the test's performance in real-world clinical practice, providing further evidence of its clinical validity and utility prior to its full commercialization.
- Innovations in the FirstGene screen, such as fetal-fraction amplification and a novel trajectory analysis algorithm, highlight the company's commitment to advancing precision medicine.
Potential Negatives
- While the study presents strong analytical validation results, the reliance on a single clinical study for broad commercialization raises concerns about the robustness and reproducibility of the results in diverse real-world settings.
- The press release implies that fewer than half of pregnancies receive adequate screening, which may reflect negatively on the current effectiveness and accessibility of existing prenatal screening methods, potentially impacting the perception of Myriad's offerings.
- The inclusion of a safe harbor statement emphasizes that the future success of the FirstGene screen is uncertain and subject to various risks, which may lead to skepticism among investors regarding the company's ability to deliver on its commercialization promises.
FAQ
What is the FirstGene Multiple Prenatal Screen?
The FirstGene Multiple Prenatal Screen is a test that combines multiple prenatal genetic assessments into a single assay.
How accurate is the FirstGene screen?
The FirstGene screen boasts ≥98.2% analytical sensitivity and ≥99.0% analytical specificity for its components.
What conditions does the FirstGene screen test for?
The screen tests for fetal aneuploidy, RhD compatibility, and various recessive genetic conditions affecting the fetus and pregnant person.
What is the purpose of the CONNECTOR study?
The CONNECTOR study evaluates the performance and clinical validity of the FirstGene screen in real-world clinical practice.
How is the FirstGene screen performed?
The test is conducted in-house at Myriad’s laboratories using a single blood draw from the pregnant person.
Disclaimer: This is an AI-generated summary of a press release distributed by GlobeNewswire. The model used to summarize this release may make mistakes. See the full release here.
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Full Release
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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