Counsyl Scientists to Present Research on Prevalence of Rare Disease at International Conference on Prenatal Diagnosis and Therapy

Presentation Follows Three International Conference Talks Addressing Incidence of Rare Disease

SAN FRANCISCO--()--Counsyl, a health technology company that offers DNA screening for diseases that can impact women, men and their children, will deliver two presentations and a poster discussion on the prevalence and management of rare disease at the upcoming 19th International Conference on Prenatal Diagnosis and Therapy in Washington, DC from July 12-15.

These presentations follow a series of international talks and posters by Counsyl on the subject, most recently at the 2015 European Human Genetics Conference in Scotland, the Festival of Genomics in Boston and the 14th World Congress in Fetal Medicine in Greece.

In sharing research data more globally, Counsyl is gaining acceptance from international audiences around the true incidence and public health burden of rare disease. “As it turns out, rare is not really that rare,” says Dr. Imran Haque, Counsyl’s Director of Research, who plans to publish the findings and start a conversation around the rationale behind current screening guidelines that he states, “fail to detect many couples at high risk of passing on severe diseases.”

“Ultimately, the goal of screening is to find at-risk couples, and our data shows that expanded carrier screening is simply better at doing that,” says Dr. James Goldberg, Counsyl’s Chief Medical Officer. The title and schedule of the upcoming presentations— all given by Gabriel Lazarin, Counsyl’s Vice President of Clinical Specialists— at the International Conference on Prenatal Diagnosis and Therapy are as follows:

  • Oral Presentation: “Incidence of Profound and Severe Diseases Greatly Exceeds Cystic Fibrosis: Updated Data on Expanded Carrier Screening of 311,688 Individuals” July 13, 2 - 4 pm
  • Oral Presentation: “Accurate Carrier Frequency Estimates for Smith-Lemli-Opitz Syndrome” July 13, 2 - 4 pm
  • Poster Presentation: “Next-Generation Counseling: A Model for Genomic Screening Tests Results Disclosure and Patient Management” July 13, 12:30 pm

Counsyl offers DNA screenings for key times in people’s lives - for those starting a family and for those at risk for inherited cancer. For more information on Counsyl, please visit www.counsyl.com.

About Counsyl

Counsyl is a health technology company that offers DNA screening for diseases that can impact women, men and their children. The Counsyl philosophy is simple: screen for diseases where advanced knowledge makes a difference in health outcomes, whether it’s changing a behavior, pursuing preventative measures, or simply preparing for what lies ahead.

The Counsyl team includes an accomplished group of problem-solvers — top engineers, scientists, and designers — who are taking the lead on building the modern clinical laboratory. Scientific rigor, custom robotics, and software are at the heart of every Counsyl product, resulting in better, faster and more affordable screens that are broadly accessible. Beyond the laboratory, Counsyl offers doctors and patients a technology platform for results delivery in real time, with on-demand access to board-certified genetic counselors.

Counsyl has screened more than 400,000 patients and served more than 6,000 health care professionals in its CLIA-certified, CAP-accredited and NYS CLEP-permitted clinical laboratory. The company has raised a total of $102 million and is privately backed by RSTP, Goldman Sachs Asset Management, Founders Fund, Felicis Ventures, David Drummond, and other high profile investors.

Contacts

Allison+Partners, for Counsyl
Linda Vejnoska, 415-875-3043
counsyl@allisonpr.com

Contacts

Allison+Partners, for Counsyl
Linda Vejnoska, 415-875-3043
counsyl@allisonpr.com