Landmark study demonstrates clinical impact of Expanded Carrier Screening

Published in the Journal of the American Medical Association (JAMA), results highlight significant opportunity to identify more pregnancies affected by serious conditions across ethnicities

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N=346,790

The largest, most diverse Expanded Carrier Screening study ever published shows that current guidelines can miss a significant percentage of affected pregnancies

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.

The percentage of affected pregnancies missed by current guidelines includes:

Percentage of affected pregnancies missed by guidelines across ethnicities:

Data from Table 3: Risk Detected by Various Screening Panels
*ACOG guidelines for these ethnic categories include testing for hemoglobinopathies. When DNA-based carrier screening for hemoglobinopathies is routinely performed, there is improved detection of at-risk pregnancies. The percentages of pregnancies affected by a non-hemoglobinopathy condition that would be missed by guidelines-based testing are: African or African-American: 82%, Southeast Asian: 81%, Southern European: 74%.

“Simply put, this is the most compelling argument for Expanded Carrier Screening published to date.”

— James Goldberg, MD, FACOG, FACMG

Co-investigator
Chief Medical Officer, Counsyl

Across ethnicities, ECS detects more pregnancies affected by serious conditions

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

Total risk for severe and profound conditions by ethnicity (inclusive of guidelines)

Data from Table 4: Proportion of Total Recessive Condition Risk Inside and Outside Screening Guidelines
^1 in 550 pregnancies is a weighted average of total risk across ethnicities for all 94 severe and profound disorders based on US census population estimates. Incidence of routinely screened conditions are referenced from other cited publications.4,5,6

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Expanded Carrier Screening closes the gap across ethnicities

“...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.

ECS detects more pregnancies affected by serious conditions across ethnicities that could otherwise be missed by guidelines.

Increased detection of affected pregnancies by ECS by ethnicity

Data from Table 5: Cumulative Risk of Recessive Disease by Screening Panel

The largest, most diverse Expanded Carrier Screening study ever published

This study, unparalleled in diversity, demonstrates the clinical impact of ECS to identify more pregnancies affected with serious conditions across ethnicities.

Study population

Data from Table 2: Type of Carrier Testing Method Used
Based on self-reported ethnicity.
†Other includes four racial/ethnic categories excluded from main analysis with sample sizes < 5,000: French Canadian or Cajun, Finnish, Native American, and Pacific Islander.

Study design and methods

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.

Modeled risk of serious genetic diseases

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

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