SAN FRANCISCO--(BUSINESS WIRE)--Counsyl, a health technology company that offers DNA screening for diseases that can impact women, men and their children, has added positive predictive value (PPV) to its non-invasive pregnancy screen (NIPS) results. Counsyl is the first genetic screening company to take this step. The company’s Informed Pregnancy Screen detects whether a pregnancy is at increased risk for common aneuploidies--chromosomal abnormalities such as Down syndrome, trisomy 18 and trisomy 13. Including PPV helps physicians and patients understand the probability that a positive test result is a true positive and determine if further diagnostic procedures are warranted.
It’s important for screening companies to help patients understand their personal risks and weigh them against the prospect of false alarms. In addition to clear reporting on the Informed Pregnancy Screen, Counsyl offers every patient the chance to speak with a board-certified genetic counselor.
“Non-invasive prenatal screens are extremely useful, but without PPV reporting they can be easily misunderstood,” said Dr. James Goldberg, chief medical officer at Counsyl. “Making PPV available to patients and their physicians enables them to assess the true risk associated with a positive result and make an informed decision on pregnancy management.”
Labs typically report cell-free DNA testing results without PPV, but new recommendations from the American College of Obstetricians and Gynecologists and the Society for Maternal–Fetal Medicine encourage labs to include PPV, citing the “importance of these data in providing accurate and understandable information to patients regarding screening test results.”
Dr. Ronald Wapner, Director of Reproductive Genetics at Columbia University Medical Center supports the shift toward transparency, stating “It’s become increasingly evident that comprehensive laboratory reporting, including PPV, is critical for patients and physicians. This information is invaluable in helping women evaluate their options.” Counsyl calculates PPV and residual risk for trisomy 21, trisomy 18 and trisomy 13 using sensitivity, specificity, maternal age and gestational age.
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.
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.