Comparison of two donor-derived cell-free DNA tests and a blood gene-expression profile test in heart transplantation

Clin Transplant. 2023 Jun;37(6):e14984. doi: 10.1111/ctr.14984. Epub 2023 Apr 10.

Abstract

Background: Donor-derived cell-free DNA (dd-cfDNA) testing is an emerging screening modality for noninvasive detection of acute rejection (AR). This study compared the testing accuracy for AR of two commercially available dd-cfDNA and gene-expression profiling (GEP) testing in heart transplant (HTx) recipients.

Methods: This is a retrospective, observational study of HTx only patients who underwent standard and expanded single nucleotide polymorphism (SNP) dd-cfDNA between October 2020 to January 2022. Comparison with GEP was also performed. Assays were compared for correlation, accurate classification, and prediction for AR.

Results: A total of 428 samples from 112 unique HTx patients were used for the study. A positive standard SNP correlated with the expanded SNP assay (p < .001). Both standard and expanded SNP tests showed low sensitivity (39%, p = 1.0) but high specificity (82% and 84%, p = 1.0) for AR. GEP did not improve sensitivity and showed worse specificity (p < .001) compared to standard dd-cfDNA.

Conclusion: We found no significant difference between standard and expanded SNP assays in detecting AR. We show improved specificity without change in sensitivity using dd-cfDNA in place of GEP testing. Prospective controlled studies to address how to best implement dd-cfDNA testing into clinical practice are needed.

Keywords: acute cellular rejection; acute rejection; antibody mediated rejection; biomarker; cell-free DNA; dd-cfDNA; endomyocardial biopsy; gene expression profiling; heart transplant.

Publication types

  • Observational Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Biomarkers
  • Cell-Free Nucleic Acids* / genetics
  • Graft Rejection / etiology
  • Graft Rejection / genetics
  • Heart Transplantation*
  • Humans
  • Prospective Studies
  • Tissue Donors

Substances

  • Biomarkers
  • Cell-Free Nucleic Acids