Myriad Genetics Announces Early Access to the FirstGene Multiple Prenatal Screen

Rhea-AI Summary

Myriad Genetics (NASDAQ: MYGN) has announced early access to its FirstGene Multiple Prenatal Screen, a comprehensive prenatal genetic testing solution. The test combines multiple screening modalities into a single blood draw, eliminating the need for paternal testing. FirstGene will be launched through the CONNECTOR study, targeting over 5,000 patients across multiple clinical sites. The screen offers high accuracy with 98.6% sensitivity and 99.6% specificity, capable of identifying carrier status, fetal genetic anomalies, chromosomal aneuploidies, 22q11.2 microdeletion, pathogenic mutations in 10 recessive conditions, and RhD compatibility. This streamlined approach makes guideline-driven testing more accessible while representing a significant growth opportunity for Myriad in the prenatal testing market.

Positive

• High accuracy rates with 98.6% sensitivity and 99.6% specificity across variants
• Streamlined testing process requiring only one blood draw without paternal testing
• Large-scale clinical study with 5,000+ patients demonstrates company's commitment to validation
• Represents significant growth opportunity in prenatal testing market

Negative

• Clinical validity and utility evidence still needs to be established through ongoing studies
• Complex molecular and bioinformatic workflows required for test processing

Insights

Medical Genetics Specialist

Myriad's FirstGene screen combines multiple prenatal genetic tests into one blood draw, potentially disrupting the prenatal testing market.

Myriad Genetics has introduced a significant innovation in prenatal genetic screening with their FirstGene Multiple Prenatal Screen, which represents a substantial technical advancement in the prenatal testing landscape. This "four-in-one" approach consolidates several previously separate tests into a single maternal blood draw, eliminating the need for paternal testing - a meaningful logistical improvement in clinical practice.

The test simultaneously assesses carrier status for the pregnant person, screens for fetal chromosomal abnormalities (including the clinically important 22q11.2 microdeletion), identifies pathogenic mutations in 10 severe recessive conditions, and evaluates RhD compatibility between mother and fetus. The reported 98.6% sensitivity and 99.6% specificity across variants indicates robust analytical performance that meets clinical standards.

The large-scale CONNECTOR study with over 5,000 patients represents a smart strategic approach - gathering real-world evidence while simultaneously making the test available to patients. This differs from traditional development pathways where extensive clinical validation occurs before commercial availability. Myriad's approach accelerates time-to-market while still generating necessary clinical evidence.

For clinicians and patients, this consolidation of testing eliminates the fragmented approach of ordering multiple separate tests, potentially reducing overall costs and time delays while increasing the accessibility of comprehensive genetic screening. The technological innovation here is substantial, requiring sophisticated molecular and bioinformatic techniques to accurately analyze fetal cell-free DNA from maternal blood across multiple genetic conditions simultaneously.

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 FirstGene^TM screen

SALT LAKE CITY, June 03, 2025 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostic testing and precision medicine, announced early access to the FirstGene^TM 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 FirstGeneScreen.com.

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 Prequel^® Prenatal Screen with AMPLIFY™ Technology identifies whether a pregnancy is at an increased risk for a wide variety of chromosomal conditions as early as eight weeks.
• The Foresight^® Carrier Screen identifies those couples who have a chance of passing down serious inherited conditions.
• The SneakPeek^® Gender Test 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 “Know More Sooner” 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 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 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. 

Investor Contact 
Matt Scalo 
(801) 584-3532 
IR@myriad.com 

Media Contact 
Kate Schraml
(224) 875-4493
PR@myriad.com  

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). https://doi.org/10.1038/s41436-020-01009-5

² Prenatal Diagnosis 2020 Feb;40(3):311-316. doi: 10.1002/pd.5588. Epub 2019 Dec 2.

FAQ

What is Myriad Genetics' FirstGene Multiple Prenatal Screen?

FirstGene is a comprehensive prenatal genetic screening test that combines multiple testing modalities into a single blood draw, detecting carrier status, fetal genetic anomalies, chromosomal issues, and RhD compatibility without requiring paternal testing.

What is the accuracy rate of MYGN's FirstGene screening test?

The FirstGene screen has demonstrated over 98.6% sensitivity and 99.6% specificity across variants in both the fetus and pregnant person.

How many patients will be enrolled in Myriad Genetics' CONNECTOR study for FirstGene?

The CONNECTOR study plans to enroll more than 5,000 patients from multiple clinical sites to evaluate the FirstGene screen in a real-world clinical setting.

What genetic conditions can FirstGene screen detect?

FirstGene can detect chromosomal aneuploidies, 22q11.2 microdeletion, pathogenic mutations in 10 prevalent recessive conditions, and RhD compatibility between the pregnant patient and fetus.

Does MYGN's FirstGene test require paternal testing?

No, FirstGene does not require paternal testing as it can directly identify fetal genotype using cell-free DNA from the pregnant person's blood sample.