As families and societies grow more diverse, ethnicity-based screening becomes more challenging

Clinical guidelines often recommend carrier screening based on a patient’s ethnicity; however, self-reported ethnicity may not accurately reflect a patient’s unique ancestry.1

  • Some patients may provide the group they identify with most while neglecting to list all their ethnic makeup.
  • Other times, incomplete knowledge of family history, such as adoption/immigration of parents/grandparents can impact the accuracy of self-reported ethnicity.
  • Admixed populations benefit from personalized residual risk, as the unique makeup of each individual is taken into account, rather than binning everyone into one homogenous group.

In one published study of 1752 participants, self-reported ethnicity did not match
geographic ancestry in nearly 1 in 5 people2

Molecular ancestry provides more precise risk scores for better patient care​

Sema4’s Elements®Expanded Carrier Screening ECS is validated to incorporate an ancestry-calling component which is used to determine personalized residual risk values. These personalized values provide physicians and their patients with enhanced risk assessment analysis to inform family planning decisions and avoid inaccuracies based on self-reported ethnicity.​

Uses proprietary technology to identify a patient’s molecular ancestry on a genome-wide level for tailored personalized residual risk

Integrates patient-specific genealogical information to help providers precisely understand a patient’s residual risk for passing on inherited disease

Provides patients with personalized residual risk education and the option to view their ancestry report in the Sema4 Patient Portal

It’s important to know that while the patient will have the opportunity to log onto the Sema4 Patient Portal to explore their results, molecular ethnicity will not be included in the patient report. As such, patients with any questions regarding their ethnicity will be instructed to call Sema4’s customer service team and not their provider.

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Validation Summary
Read our Validation Summary on Sema4 Elements® ECS

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1 ​Shraga R, et al. Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening. BMC Genetics. 18(1):99. doi: 10.1186/s12863-017-0570-y.​
2 Hollenback JA, et al. Race, ethnicity and ancestry in unrelated transplant matching for the national marrow donor program: A comparison of multiple forms of self-identification with genetics. PloS ONE. 2015;10(8): e0135960