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Determining Ethnic Disparities Inherent to Tier 3 Vs. Tier 4 Carrier Screening.

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¹Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, Rutgers Robert Wood Johnson, New Brunswick, New Jersey, USA.

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|June 22, 2026

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Tier 4 carrier screening panels identify more carriers across diverse ethnic groups than traditional Tier 3 panels. Universal Tier 4 screening is recommended for better carrier ascertainment and lower number needed to screen (NNS) in all populations.

Area of Science:

Genetics
Population Health
Medical Diagnostics

Background:

Carrier screening panels traditionally use frequency thresholds based on European populations.
This approach may lead to ethnic disparities in carrier status ascertainment.
Underrepresented ethnic groups may be missed by current screening methods.

Purpose of the Study:

Evaluate ethnic disparities in carrier status ascertainment between Tier 3 and Tier 4 screening panels.
Assess the utility of Tier 4-only screening in ethnically diverse cohorts.
Determine the prevalence and number needed to screen (NNS) for Tier 4 variants across different regions.

Main Methods:

Retrospective chart review of 2000 adults undergoing carrier screening.
Ethnicity mapping to UN Geoscheme regions for analysis.

Related Experiment Videos

Calculation of prevalence and NNS for Tier 4-only variants by geographic region and ancestral subgroup.

Main Results:

65.7% of patients carried at least one Tier 4-only variant, with high prevalence across most ancestral subgroups.
NNS for Tier 4-only carriers ranged from 1.0 to 2.2, most efficient in Africa, Southeast Asia, and Eastern Europe.
Carrier couples were identified with NNS from 7.3 to 58.1 across regions.

Conclusions:

Tier 3 panels inadequately identify carriers in underrepresented ethnic groups.
Tier 4 panels offer superior carrier ascertainment in diverse populations with lower NNS.
Universal Tier 4 carrier screening is supported by these findings.