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Related Experiment Video

Updated: Sep 18, 2025

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Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.

Eric Lee1, Kaylee Orton1, Edward Kwan1

  • 1Molecular Genetics Department, Virtus Diagnostics, Suite 4, Level 1, 20-30 Blamey St, Revesby, NSW 2212, Australia.

Genes
|June 26, 2025
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Summary

Broader reproductive carrier screening identifies more at-risk couples for genetic conditions than testing only common genes like CFTR, SMN1, and FMR1. Couple-based reporting and variant analysis improve clinical impact assessment.

Keywords:
carrier screeningcystic fibrosisfragile X syndromeinfertilityspinal muscular atrophy

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Area of Science:

  • Reproductive genetics
  • Clinical diagnostics
  • Genomic medicine

Background:

  • Clinical utility of reproductive carrier screening is gene-dependent.
  • Variant reporting and patient population influence screening outcomes.
  • Routine clinical setting evaluation of carrier screening is needed.

Purpose of the Study:

  • Evaluate carrier screening outcomes in reproductive couples.
  • Assess the clinical utility of couple-based screening.
  • Analyze the impact of gene panels and variant reporting.

Main Methods:

  • 1595 couples underwent couple-based carrier screening across 390 genes.
  • Carrier status assessed on a couple basis; reporting focused on at-risk offspring.
  • Conditions classified by severity and variant-specific clinical impact; secondary findings evaluated.

Main Results:

  • 4.2% of couples were at risk for a genetic condition.
  • 1.0% of couples had high-clinical-impact results, with CFTR, SMN1, or FMR1 involved in 44%.
  • 1.7% of individuals had secondary findings with personal utility.

Conclusions:

  • Targeted screening of only CFTR, SMN1, and FMR1 misses over half of at-risk couples.
  • Couple-based reporting and variant analysis enhance prediction of clinical impact.
  • Secondary findings are common, necessitating pre-test counseling.