Counsyl Supports New Guidance from the American College of Obstetricians and Gynecologists on Expanded Carrier Screening for Prenatal Genetic Testing

a DNA testing and genetic counseling service company, welcomes the new
carrier screening guidelines issued by the American College of
Obstetricians and Gynecologists (ACOG), which, among other guidance,
recognizes expanded carrier screening as an acceptable strategy for
prepregnancy and prenatal carrier screening for patients and their

“We believe the inclusion of carrier screening in routine clinical
practice will help all couples, regardless of ethnicity, learn their
risk of passing down serious inheritable conditions to their children
and to proactively manage their health,” said James Goldberg, MD, chief
medical officer of Counsyl. “We are also in alignment with ACOG’s
recommendation that OB/GYN practices develop a consistent, standardized
approach in offering and discussing carrier screening with each patient,
ideally before pregnancy.”

The ACOG Committee Opinion references a study
in the Journal of the American Medical Association (JAMA
) published
in August 2016 by researchers from Counsyl and Dr. Ronald J. Wapner from
Columbia University Medical Center. The JAMA study included 346,790
individuals and found that expanded carrier screening identified more
pregnancies at risk for severe or profound conditions than
guideline-recommended panels, across ethnicities. The authors of the
study noted at the time that carrier screening guidelines primarily
targeted a number of diseases prevalent in those of European descent
(such as cystic fibrosis), but they did not identify risk for other
conditions that may be important to more diverse populations.

“As the pioneer and U.S. market leader in expanded carrier screening,
Counsyl is pleased that ACOG’s guidance accounts for new research that
examines the opportunity to detect more at-risk couples across
ethnicities with expanded carrier screening,” said Ramji Srinivasan,
co-founder and CEO of Counsyl. “We look forward to continuing to support
OB/GYN practices as they begin to offer expanded carrier screening more
routinely in prepregnancy and prenatal patient care.”

About Counsyl

Counsyl is a DNA testing and genetic counseling service. We’re committed
to helping patients understand their DNA and how it can inform important
health decisions. Whether it’s starting a family or evaluating risk for
cancer, Counsyl’s DNA tests provide patients with early awareness about
genetic conditions, so they can live informed and prepare for the
future. Counsyl has screened more than 700,000 patients and served more
than 10,000 healthcare professionals. For more information, visit

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Donelle M. Gregory