Published in the Journal of the American Medical Association (JAMA), results highlight significant opportunity to identify more pregnancies affected by serious conditions across ethnicitiesDownload Research Highlights
An analysis of 94 severe and profound conditions2** on the Counsyl Family Prep Screen shows that Expanded Carrier Screening (ECS) uncovers more affected pregnancies than current ACOG and ACMG guidelines3 across ethnicities.
Chief Medical Officer, Counsyl
Comparatively, the total risk of serious disorders identified through ECS is higher than the incidence of routinely screened for conditions such as Down syndrome. 4,5,6
“...even though current guidelines target a number of diseases prevalent in those of European descent, they do not identify risk for other conditions that may be important to diverse populations.” - Haque, et al.
The increased detection of affected pregnancies demonstrates the value of offering ECS to all patients, regardless of ethnicity.
This study, unparalleled in diversity, demonstrates the clinical impact of ECS to identify more pregnancies affected with serious conditions across ethnicities.
The sample size of each of these individual ethnic groups is substantial. Even the sizes of individual populations (e.g., Hispanic) eclipse the total population of other similar genetic testing studies published to date. 1
To minimize bias, individuals with self-reported personal or family history, infertility or other reason of testing were excluded. Analysis was done on the Counsyl Family Prep Screen using targeted genotyping and next-generation sequencing.
The study was designed with a focus on 94 “severe and profound”2 recessive conditions on the Counsyl Family Prep Screen.
Severe conditions: if untreated, may cause intellectual disability or a substantially shortened lifespan2
Profound conditions: may cause both intellectual disability and shortened lifespan2