Counsyl unveils significant enhancements to expanded carrier screening panel

Jul 25 2017

Counsyl Foresight™ Carrier Screen features unmatched detection of serious inheritable conditions

Counsyl, a DNA testing and genetic counseling company, today unveiled significant enhancements to its flagship expanded carrier screening (ECS) product, Counsyl Foresight Carrier Screen, which uses next-generation sequencing (NGS) technology to assess whether couples are at-risk for passing down serious genetic conditions to their children.

The Foresight Carrier Screen uses advanced technology to provide industry-leading DNA coverage including:

• Novel panel-wide deletion calling
• Deletion and duplication calling for prevalent disorders like cystic fibrosis, resulting in the maximum detection rate available of greater than 99 percent across all ethnicities
• Custom assays for prevalent but technically challenging conditions like 21-hydroxylase-deficient congenital adrenal hyperplasia (21-OH CAH)

Counsyl’s published methodology produces carrier detection rates greater than 99 percent for the vast majority of genes on the panel. As a result, an estimated 1 in 42 couples will be identified as at-risk for having a pregnancy affected by a genetic condition with the new Foresight Carrier Screen.

“The goal of expanded carrier screening is to identify the most at-risk couples for serious, clinically actionable conditions, as it can have a profound impact on family planning - from prepregnancy to pre- and post-natal health decisions,” said James Goldberg, MD, chief medical officer at Counsyl. “We have improved Counsyl Foresight by sequencing and optimizing coverage for the most prevalent conditions - prioritizing clinical significance over the number of genes - but ultimately, it’s the number of patients who have access to this information that matters most to us at Counsyl.”

“Our approach to panel design is unique in that it is oriented around quality rather than quantity,” said Ramji Srinivasan, co-founder and chief executive officer at Counsyl. “We don’t believe in increasing the number of genes on a panel for the sake of touting a higher number. In designing the panel updates, we evaluated more than 650 genes and selected only those that met strict criteria for severity, actionability, prevalence, and sensitivity. The end goal is not more genes; it’s more genes that are associated with serious conditions, that are clinically relevant and actionable, and that are prevalent enough to improve at-risk couple detection rates.”

Counsyl has screened more than 750,000 patients - offering ECS, noninvasive prenatal screening and hereditary cancer screening - and has published industry-leading research in the Journal of the American Medical Association on the value of ECS regardless of race or ethnicity. In March 2017, the American College of Obstetricians and Gynecologists (ACOG) recognized ECS as an acceptable strategy for prepregnancy or prenatal carrier screening.

With this latest innovation, Counsyl continues to pioneer ways to improve the effectiveness of its carrier screening while making it easier for providers to offer and for patients to access testing. In addition to its extensive insurance network that includes most payers, Counsyl provides financial assistance programs, price transparency and billing support, all of which ensure that patients have access to testing. Automated delivery of results combined with on-demand genetic counseling enables providers and patients to understand the meaning of results.