Myriad Genetics Unveils Groundbreaking Eight Weeks’ Gestation NIPT Study Results at Society for Maternal-Fetal Medicine Conference
Rhea-AI Summary
Myriad Genetics (NASDAQ: MYGN) announced groundbreaking research results for its Prequel® Prenatal Screen with AMPLIFY™ technology, which enables reliable prenatal cell-free DNA screening as early as eight weeks' gestation, compared to the typical 9-10 weeks. The study, awarded SMFM's 'Dru Carlson Memorial Award for Best Research in Ultrasound and Genetics,' demonstrated that Prequel with AMPLIFY achieved an average fetal fraction of 12.5% with a no-call rate below 0.5% between 8-10 weeks of gestation.
This advancement allows earlier risk assessment of chromosomal disorders, enabling patients to pursue diagnostic testing like chorionic villus sampling at 10 weeks instead of waiting for amniocentesis at 15 weeks. The findings will be presented at the Society for Maternal-Fetal Medicine Conference by Dr. Lorraine Dugoff from the University of Pennsylvania.
Positive
- Achieved breakthrough in early prenatal screening, enabling testing 1-2 weeks earlier than current standard
- Demonstrated excellent performance metrics with 12.5% fetal fraction and less than 0.5% no-call rate
- Received prestigious SMFM award for research excellence
- Technology enables earlier diagnostic testing options (10 weeks vs 15 weeks)
Negative
- None.
Insights
This breakthrough in Non-Invasive Prenatal Testing (NIPT) represents a significant competitive advantage for Myriad Genetics in the $5.5 billion global NIPT market. The ability to conduct reliable testing at 8 weeks gestation with Prequel creates several strategic advantages:
- Earlier testing window provides a important 1-2 week advantage over competitors, potentially capturing market share from traditional players like Natera and Illumina
- The exceptionally low no-call rate of less than 0.5% significantly reduces the need for repeat testing, improving laboratory efficiency and patient satisfaction
- Earlier results enable chorionic villus sampling at 10 weeks versus 15 weeks for amniocentesis, representing a paradigm shift in prenatal care pathways
The AMPLIFY technology's ability to increase fetal fraction addresses a critical limitation in early gestation testing, potentially expanding the addressable market to include more first-trimester screenings. This could drive increased test volumes and revenue growth, particularly as early pregnancy screening becomes more standardized in prenatal care protocols. The prestigious Dru Carlson Memorial Award validates the scientific merit of this advancement, likely accelerating clinical adoption and insurance coverage decisions.
Opening plenary session features latest fetal fraction amplification research
SALT LAKE CITY, Jan. 29, 2025 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced it will unveil groundbreaking research at the annual Society for Maternal-Fetal Medicine Conference (SMFM). The company’s “Fetal fraction amplification enables accurate prenatal cell-free DNA (cfDNA) screening at eight weeks gestation” study was awarded SMFM’s “Dru Carlson Memorial Award for Best Research in Ultrasound and Genetics.”
The study found that Prequel® Prenatal Screen with AMPLIFY™ technology enables reliable results as early as eight-weeks’ gestation. Typically, prenatal cell-free DNA (pcfDNA) screening is offered beginning at nine to 10 weeks’ gestation. At earlier gestational ages, the proportion of placental cfDNA, referred to as the fetal fraction (FF), is often too low to allow for confident analysis. Prequel with AMPLIFY can overcome this limitation by increasing the FF. This study found that by using Prequel with AMPLIFY, the average FF was
“Being able to assess the risks for chromosomal disorders at eight weeks of pregnancy is a significant step forward in prenatal genetic screening,” said Dale Muzzey, PhD, Chief Scientific Officer at Myriad Genetics. “We are improving the timeline for patients to understand their risk assessment of chromosomal abnormalities, allowing pregnant patients to pursue earlier diagnostic testing, such as chorionic villus sampling at 10 weeks’ gestation, when recommended by their clinicians, instead of the typical 15 weeks for amniocentesis. Earlier, reliable results empower clinicians and their patients to make the most informed, timely decisions for their care.”
The data will be shared during an opening oral plenary session at 8:30 a.m. (MT) on Thursday, Jan. 30, 2025, in the Aurora Ballroom, Lobby Level. Lorraine Dugoff, MD, Professor, Chief of Reproductive Genetics, University of Pennsylvania, will present the study results.
About the Study
The objective of this multi-site study was to determine how early in gestation the Prequel with AMPLIFY test can deliver high-quality results. The enrolled subjects provided two samples for analysis: the first between six to nine weeks’ gestation and the second at ≥10 weeks’ gestation, where Prequel was already validated. Clinical results and FF levels were compared between each patient’s two samples, revealing that Prequel with AMPLIFY at eight weeks gestation has sufficiently high FF levels to return reliable results consistent with typical cfDNA screening at 10 weeks or later.
Additional Myriad Presentations as SMFM
Detecting maternal mosaicism in fetal sex chromosome aneuploidy screening
Poster session 1001
Date/Location: Friday, Jan. 31, 2025, 4:00 pm (MT)
Presenter: Dale Muzzey, PhD, Chief Scientific Officer, Myriad Genetics
Summary: Sex chromosome anomalies (SCA) are a common class of fetal aneuploidy, but cfDNA screening assays typically have relatively low positive predictive value (PPV) for SCA calls. False positives are caused by factors including statistical error, confined placental mosaicism, and maternal mosaicism. To compare the impact of these factors and improve SCA screening PPV, Myriad Genetics developed a new “depth trajectory” method within its upcoming FirstGene™ product that identifies mosaic maternal aneuploidy by analyzing covariation in read depth and DNA fragment size.
About Prequel Prenatal Screen
Myriad’s Prequel® Prenatal Screen with AMPLIFY™ technology is the first and only prenatal cfDNA screen available at eight-weeks' gestational age. AMPLIFY technology has been shown to increase fetal fraction 2.3-fold on average, allowing the test to provide pregnant patients with genetic insights into fetal development and the health of the pregnancy as early as eight weeks’ gestation. Prequel with AMPLIFY can assess if a pregnancy is at an increased risk for several chromosomal conditions like Down, Edwards, or Patau syndrome, sex chromosome abnormalities, expanded aneuploidies, and select microdeletions, including 22q11.2.
About Myriad Genetics
Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and well-being for all. Myriad Genetics develops and offers genetic tests that help assess the risk of developing disease or disease progression and guide treatment decisions across medical specialties where genetic insights can significantly improve patient care and lower healthcare costs. For more information, visit www.myriad.com.
Safe Harbor Statement
This press release contains “forward-looking statements” within the meaning of the Private Securities Litigation Reform Act of 1995, including the company’s belief that being able to assess the risks for chromosomal disorders at eight weeks of pregnancy is a significant step forward in prenatal genetic screening, through its Prequel with AMPLIFY test, the company is improving the timeline for patients to understand their risk assessment of chromosomal abnormalities, allowing pregnant patients to pursue earlier diagnostic testing, such as chorionic villus sampling at 10 weeks’ gestion, when recommended by their clinicians, instead of the typical 15 weeks for amniocentesis, and how earlier, reliable results empower clinicians and their patients to make the most informed, timely decisions for their care. 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, 2024, 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.
Investor Contact
Matt Scalo
(801) 584-3532
IR@myriad.com
Media Contact
Glenn Farrell
(385) 318-3718
PR@myriad.com
FAQ
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