Myriad Genetics, Inc., a global leader in personalized medicine, today announced that its Myriad Women’s Health business unit will present results from two important studies at the 2019 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting that highlight the performance of its prenatal tests. The key findings are that the Foresight® Carrier Screen identifies 45 percent more couples at risk for having a child with cystic fibrosis than current guideline-based testing, and that the Prequel™ Prenatal Screen provides reliable results to 99.9 percent of patients spanning the entire spectrum of fetal-fraction levels.
Our studies demonstrate the outstanding clinical performance of our tests in a general population of patients undergoing carrier and prenatal screening. We believe these data will help inform medical guideline updates, support decision making and lead to better outcomes for couples.”
James Goldberg, M.D., Board Certified Maternal Fetal Medicine Specialist, Medical Geneticist and Chief Medical Officer, Myriad Women’s Health
The key data are summarized below. Please visit Myriad Women’s Health at booth #1218 to learn more about our leading portfolio of women’s health products. Follow Myriad on Twitter via @myriadgenetics and @MyrWomensHealth and keep up to date with meeting news and updates by using the hashtag #ACMGMtg19.
Foresight Carrier Screen
Title: Sequencing as a First-Line Methodology for Cystic Fibrosis Carrier Screening
Presenter: Dale Muzzey, Ph.D., Myriad Women’s Health.
Date: Friday, April 5, 2019, 10:30 a.m. to 12:00 p.m.
Location: Poster 880
This study evaluated the performance of sequencing-based cystic fibrosis (CF) screening using the Foresight Carrier Screen compared to genotyping. Three carrier screening strategies were evaluated: 1. Genotyping 23 guideline-recommended genetic variants (CF23); 2. Sequencing all coding bases in the CFTR gene (NGS) using Foresight; and 3. Sequencing plus large copy-number variant identification (NGS+CNV) also using Foresight. The results show that among the 13,080 couples screened, 58 were determined to be couples at risk for a pregnancy affected by CF: 40 were detected by CF23-only screening, 17 additional couples by NGS, and one couple by NGS+CNV. Importantly, these findings demonstrate that using Foresight would increase the detection of at-risk couples by 45 percent relative to current guideline-based testing. Of the couples at risk for CF who were identified, 89 percent said they planned or pursued actions to reduce the risk of having a pregnancy affected by CF, which underscores the clinical utility of the Foresight Carrier Screen to provide actionable information to prospective parents.
“Current medical guidelines for cystic fibrosis recommend carrier screening via targeted genotyping of 23 frequent variants but that approach may miss many couples at risk,” said Goldberg. “Our findings suggest the CF guidelines should be updated to allow for modern NGS and variant interpretation that will enable more effective screening and better detection of at-risk couples.”
Prequel Prenatal Screen
Title: Avoiding Unnecessary Trade-Offs: Clinical Experience for a Noninvasive Prenatal Screen with Both Low Test Failure Rate and High Accuracy
Presenter: Susan Hancock, CGC, Myriad Women’s Health.
Date: Thursday, April 4, 2019, 10:00 a.m. to 11:00 a.m.
Location: Poster 911
This study retrospectively analyzed data from 58,105 women screened with the Prequel Prenatal Screen, which uses a whole genome sequencing approach to noninvasive prenatal screening (NIPS). Importantly, while Prequel measures fetal fraction, samples are not routinely failed due to fetal fraction being below a predetermined threshold. The results demonstrate that Prequel provided a test result for 99.9 percent of patients, meaning that only one in 1,000 received no result. In the cohort, a total of 572 cases tested positive for an aneuploidy or suspected aneuploidy and the clinical sensitivity and specificity levels were comparable to those observed for NIPS offerings with much higher failure rates. Critically, the study shows that performance would not be improved with the use of a fetal-fraction threshold. Rather, applying such a threshold to Prequel would serve only to cause thousands of women to receive a test failure and would unnecessarily delay the identification of a number of affected pregnancies.
“What this data demonstrates is the high accuracy of the Prequel test below a fetal fraction of four percent, meaning more patients receive reliable results the first time,” said Goldberg. “We believe the ability of the Prequel test to perform at any fetal-fraction level is unprecedented and makes it the most effective noninvasive prenatal screening test for aneuploidy available to clinicians today.”