SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Counsyl, a genetic screening company, announced that Clinical Chemistry has published its research study titled, “Validation of an Expanded Carrier Screen That Optimizes Sensitivity Via Full-Exon and Panel-Wide Copy-Number-Variant Identification.” The study validates that the recently updated Foresight™ Carrier Screen has high accuracy (>99.99%) for identifying genetic mutations that determine a couple’s risk of an affected pregnancy. The study also highlights that Foresight identified 4.5 percent of tested couples (1-in-22) as being at-risk for an affected pregnancy. The enhancements to Foresight discussed in the manuscript increase detection of potentially affected pregnancies by an estimated 50 percent over the previous version. One such improvement is the inclusion of panel-wide deletion and select duplication analysis, which is expected to provide a 10 percent boost in detection of risk for affected pregnancies compared to expanded carrier screening (ECS) offerings that do not screen for deletions and duplications. Further, the study presents a custom assay that provides high at-risk couple detection for 21-hydroxylase-deficient congenital adrenal hyperplasia (21-OH CAH), a common condition often absent from ECS panels due to its technical complexity.
“The data revealed in this latest study shows that by using limited carrier screening or low-sensitivity expanded carrier screens, providers are missing at-risk couples,” said James Goldberg, MD, chief medical officer at Counsyl. “It is clear that by using a high-sensitivity assay, clinicians can provide patients with more clinically relevant and actionable information than in the past when only high-risk patients were screened for the most common disorders.”
Counsyl is the U.S. leader and pioneer of expanded carrier screening (ECS). The company has produced more than 25 peer-reviewed publications over the last 10 years, seeking to advance the science of genetic screening. This latest research adds to the large body of evidence supporting the clinical value of ECS and Foresight.
This latest study builds on earlier research, including:
- A 2016 study published in JAMA, titled “Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening,” which showed that ECS outperforms current screening standards in terms of elucidating carrier risk in a diverse population and across a variety of serious genetic conditions
- A 2017 study from Genetics in Medicine, titled “Systematic Design and Comparison of Expanded Carrier Screening Panels,” which revealed the importance of utilizing full-exon sequencing and screening for diseases with high prevalence and complex molecular genetics when designing ECS panels
The Clinical Chemistry study presents additional evidence of the clinical impact of the Foresight ECS panel. The study found that 1-in-300 pregnancies are expected to be affected by a serious inherited condition screened on the updated Foresight panel. This rate is higher than the 1-in-3,300 pregnancies expected to be affected due to mutations on the traditional 23-mutation cystic fibrosis screen, and it also surpasses the rate of 1-in-550 for a previous version of the Foresight panel, highlighting the importance of maximizing panel sensitivity. Further, the rate of pregnancies affected with serious conditions whose elevated risk is expected to be identified via Foresight also exceeds the incidence of routinely screened disorders like Down syndrome, which occurs in approximately 1-in-800 births.
Learn more about Counsyl’s industry-leading Foresight Carrier Screen.
Counsyl provides actionable information that guides women and their families in making critical and timely health decisions. Counsyl operates a high-complexity clinical laboratory that offers the Foresight™ Carrier Screen, Prelude™ Prenatal Screen and Reliant™ Cancer Screen, as well as supporting services through Counsyl Complete™, a proprietary suite of solutions, designed to seamlessly integrate Counsyl screening into clinic workflows and patients’ lives. Our custom-designed clinical laboratory provides highly reliable results, fast test processing speeds and rapid scalability, all at low capital and operating costs. Since 2007, we’ve worked with tens of thousands of providers to deliver over one million patient results. For more information, visit www.counsyl.com.