Prenatal Expanded Carrier Screening Could Identify Many More Serious Defects Interview with:

Gabriel Lazarin MS Vice President,Counsyl Medical Science Liaisons

Gabriel Lazarin

Gabriel Lazarin MS
Vice President,Counsyl
Medical Science Liaisons What is the background for this study? What are the main findings?

Response: The study finds there is a significant opportunity to identify more pregnancies affected by serious conditions, across all ethnicities, through the clinical use of expanded carrier screening (ECS). We found that compared to current prenatal genetic testing guidelines, expanded carrier screening for 94 genetically inherited conditions better addresses the risk of having a pregnancy affected with a serious condition.

Certain physicians have been offering ECS since 2010. However, in order for it to come into routine use, a group of major medical organizations last year stated a need for further data regarding the frequency of previously unscreened genetic variants. This study uses real test results from approximately 350,000 people to provide that data. What should readers take away from your report?

Response: As a result of these findings, we believe a re-evaluation of current carrier screening guidelines is warranted. For context, about 1 in 700 pregnancies are affected with Down syndrome, a condition that is routinely screened for. Comparatively, the total risk of a pregnancy being affected with a serious disorder detected by our ECS panel is 1 in 550. This presents a significant opportunity to increase the efficacy of prenatal genetic screening. What recommendations do you have for future research as a result of this study?

Response: We’re quite proud of this work – we’ve made public the frequency data for thousands of variants in 15 major ethnic groups. Ideally, the data will inform other researchers and the medical community for years to come. We hope this will spark a discourse on the current guidelines and we welcome the opportunity to partner with clinicians to develop the evidence in other areas of needed research. Ultimately, organizations like ACOG and ACMG determine the level of evidence needed to suggest sweeping changes, but we believe this is an important step forward. Is there anything else you would like to add?

Response: We’re pleased to have contributed findings from this extensive and diverse dataset to help move the conversation forward on the role of expanded carrier screening in prenatal testing. We look forward to supporting the medical societies as they explore how this data could impact carrier screening guidelines. Thank you for your contribution to the community.


Haque IS, Lazarin GA, Kang H, Evans EA, Goldberg JD, Wapner RJ. Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. JAMA. 2016;316(7):734-742. doi:10.1001/jama.2016.11139.

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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