MYGN Myriad Genetics Inc

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 12.5%, with a no-call rate of less than 0.5% between eight and 10 weeks of gestation.

“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 StudyThe 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 SMFMDetecting maternal mosaicism in fetal sex chromosome aneuploidy screeningPoster session 1001Date/Location: Friday, Jan. 31, 2025, 4:00 pm (MT)Presenter: Dale Muzzey, PhD, Chief Scientific Officer, Myriad GeneticsSummary: 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 ScreenMyriad’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 GeneticsMyriad 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