Myriad Genetics has announced early access to its FirstGene Multiple Prenatal Screen, a groundbreaking four-in-one genetic testing platform that streamlines prenatal risk assessment by combining multiple screening modalities into a single blood draw. The company will launch the screen through the CONNECTOR study, which will simultaneously deliver patient reports while generating clinical validity and utility evidence for this new offering.
Comprehensive Four-in-One Testing Platform
The FirstGene screen represents a significant advancement in prenatal genetic testing by integrating four distinct screening components into one assay. The comprehensive platform includes fetal aneuploidy screening for common trisomies of chromosomes 13, 18, and 21, 22q11.2 microdeletion, and sex chromosome aneuploidies. Additionally, it screens for 10 prevalent and severe recessive 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).
The screen also provides carrier screening for the pregnant person for the same conditions plus fragile X syndrome, and evaluates RhD compatibility between the pregnant patient and fetus through RhD copy-number measurement.
Eliminating Need for Paternal Testing
A key innovation of the FirstGene screen is its ability to directly identify fetal genotypes using cell-free DNA from the pregnant person, eliminating the need for paternal reproductive partner testing. This addresses a significant gap in current practice, 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.
"The FirstGene screen technology enables prenatal screening without the need to test the male partner," said Melissa Gonzales, President, Myriad Women's Health. "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."
Strong Analytical Performance
The FirstGene screen has undergone rigorous testing and validation, achieving more than 98.6% sensitivity and 99.6% specificity across variants in both the fetus and the pregnant person. Analytical validation results have 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."
CONNECTOR Study Launch
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 while simultaneously delivering reports to patients and generating clinical validity and clinical utility evidence.
"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."
Expanding Prenatal Testing Portfolio
The FirstGene screen joins Myriad's existing prenatal testing portfolio, which includes the Prequel Prenatal Screen with AMPLIFY Technology for chromosomal conditions as early as eight weeks, the Foresight Carrier Screen for couples, and the SneakPeek Gender Test for fetal sex determination as early as six weeks with greater than 99% accuracy.
The company has also developed the "Know More Sooner" website to provide information about the benefits of prenatal genetic testing, dispel common myths, and offer guidance on screening locations and high-risk result management, featuring real-life patient stories to illustrate how prenatal screening can help parents-to-be manage their pregnancies.
