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Published on: September 4, 2019
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A guidelines-consistent carrier screening panel that supports equity across diverse populations
Katherine Johansen Taber1, Rotem Ben-Shachar2, Raul Torres2
1Department of Medical Affairs, Myriad Women's Health, Inc, South San Francisco, CA.
Summary
This study identified guidelines-consistent carrier screening panels using a data-driven approach based on American College of Obstetricians and Gynecologists (ACOG) and American College of Medical Genetics and Genomics (ACMG) criteria. Two panels, with 37 and 74 conditions, were found to meet these important standards.
Area of Science:
- Genetics
- Medical Genetics
- Obstetrics and Gynecology
Background:
- Carrier screening panel design requires clear criteria for meaningful results.
- The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) provide guidelines for panel design.
Purpose of the Study:
- To interpret ACOG and ACMG carrier screening panel design criteria using a data-driven approach.
- To identify guidelines-consistent carrier screening panels.
Main Methods:
- Utilized carrier frequencies from over 460,000 individuals across 11 racial/ethnic groups.
- Interpreted criteria based on published data and evaluated 176 conditions.
- Set stringency thresholds according to ACOG/ACMG suggestions or existing recommendations.
Main Results:
- Forty conditions had a carrier frequency of ≥1 in 100, and 75 had a frequency of ≥1 in 200.
- 175 conditions had well-defined phenotypes, and 165 had early onset and met severity criteria.
- 37 conditions met conservative thresholds (≥1 in 100 carrier frequency), and 74 met permissive thresholds (≥1 in 200 carrier frequency), forming guidelines-consistent panels.
Conclusions:
- Evidence-based analysis of criteria led to the identification of guidelines-consistent carrier screening panels.
- Two distinct panels, comprising 37 and 74 conditions, were identified as meeting established guidelines for quality and consistency.
