by James Goldberg, MD, Counsyl Chief Medical Officer
Back in 2010, The New York Times reported that Counsyl was bringing genetic tests to the masses. We were a small startup of 20 employees with a singular mission — to give people as much knowledge about their genes as possible to inform life’s big moments.
A lot has changed since then. We’ve worked with more than 10,000 healthcare providers and grown to about 500 employees nationwide. Counsyl has now provided genetic testing to more than 700,000 patients — helping countless patients and families along the way make more informed choices about their health. We’re the US leader in expanded carrier screening. And we’re only at the cusp of what’s possible.
Seven years after pioneering the use of expanded carrier screening, we are poised to make genetic testing for inherited conditions part of routine medical care. Just last week, the American Congress of Obstetricians and Gynecologists (ACOG) recommended the use of pan-ethnic carrier screening for a number of inheritable conditions, and pointed out expanded carrier screening specifically as an acceptable strategy for pre-pregnancy and prenatal genetic testing.

When you consider that up until now, guidelines for genetic screening have been limited to ethnicity-specific recommendations for a few select conditions, ACOG’s new guidance is a victory for would-be parents and families everywhere that might have fallen outside guidelines. We’ve long argued that offering genetic tests only to specific ethnic groups leaves many others at a disadvantage. And our landmark study in JAMA found that for some ethnicities, such as East Asian and Middle Eastern, carrier screening guidelines were potentially missing more than 90% of pregnancies affected by serious hereditary conditions.

Most of the conditions we screen for have a significant, even fatal impact on the health of a newborn if passed down from the parents. Someone’s ethnicity or background should not stand in the way of important information that could prevent, or guide the treatment of, serious conditions.
As we work to bring genetic testing to any patient who can benefit, we support ACOG’s decision to recognize expanded carrier screening as an acceptable strategy for carrier screening. We also strongly agree with ACOG that it is optimal for providers to establish a standard approach for discussing carrier screening with and offering testing to patients, ideally before pregnancy, and that partner testing should be offered if a woman is found to be a carrier of one or more recessive conditions. This way, a patient and partner can know their risk of passing down serious conditions and ensure beforehand they have all the resources needed for family planning.

While there’s still much more work to do to make medicine driven by genomic insights mainstream, we’re thrilled that carrier screening is being acknowledged for the medically relevant and useful resource that it is. And through our work testing hundreds and thousands of patients, Counsyl will continue sharing research and resources with the medical community every step of the way to guide the clinical use of preventative genetic testing.