Barriers to completion of expanded carrier screening in an inner city population

Tirtza S. Strauss, Emily Schneider, Emily Boniferro, Erika Brockhoff, Anna Johnson, Guillaume Stoffels, Kristina Feldman, Olivia Grubman, David Cole, Farrah Hussain, Graham Ashmead, Zainab Al-ibraheemi, Lois Brustman

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Purpose: The American College of Medical Genetics and Genomics emphasizes a “consistent and equitable approach for offering carrier screening.” At our academic center, publicly insured prenatal patients underwent universal expanded carrier screening (ECS) to promote equitable care. The aim of the study was to evaluate rates, time, and barriers to complete ECS. This was defined as post-test counseling and partner testing after a patient was found heterozygous for a pathogenic variant. Methods: In this descriptive retrospective cohort study from 2018 to 2021, patients were offered ECS, consisting of 283 recessive and X-linked genes. Heterozygotes were contacted by genetic counselors (≤5 attempts) for education and partner testing. Rates of counseling, partner testing, diagnostic procedures, follow-up times, and barriers to completion were assessed. Results: During this time, 643 women underwent ECS. Of these 643 women, 462 were heterozygotes and 326 of 462 had undergone counseling. Two hundred twenty-two of 462 partners obtained testing, with a median of 32 days from patient to partner result. Approximately 21 couples were heterozygous for the same pathogenic variant. One patient pursued diagnostic testing. Conclusion: ECS offers useful information; however, this study highlights significant barriers to completion. There was suboptimal patient follow-up and low partner screening, perhaps from insufficient time to educate and counsel. Future directions include implementing quality measures to ensure optimal completion.

Original languageEnglish
Article number100858
JournalGenetics in Medicine
Issue number7
StatePublished - Jul 2023


  • Carrier screening
  • Expanded carrier screening
  • Partner testing
  • Prenatal genetic screening
  • Reproductive genetics


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