Afirma Genomic Sequencing Classifier
Genomic + AI
thyroid
RNA-sequencing and AI classification of indeterminate thyroid nodules to reduce unnecessary surgery.
Regulatory
| Regulatory status | LDT |
| LDT | Yes |
| NY CLEP | cleared |
| CLIA-certified lab | Yes |
Laboratory-developed test (LDT) offered under CLIA. Not reviewed or cleared by the FDA. Validation is the responsibility of the offering CLIA-certified laboratory.
Validation summary
| Study design | Prospective |
| Cohort size | 183 patients; 191 samples — Prospective, multicenter, blinded cohort: 183 patients with cytologically indeterminate (Bethesda III/IV) thyroid nodules across 49 academic and community centers; 191 FNA samples had adequate residual RNA for analysis; ground truth = blinded expert histopathology. |
| Number of validation sites | 49 |
| Site geography | Multi-center (US) |
| Comparator | Gold-standard test |
| Primary endpoint | Sensitivity / specificity |
| Primary result | Sensitivity 91% (95% CI 79–98%); Specificity 68% (95% CI 60–76%); NPV 96% (95% CI 90–99%) at a 24% cancer prevalence in the Bethesda III/IV cohort; PPV 47% (95% CI 36–58%). |
| External validation | Yes — Prospective multicenter cohort recruited independently of Afirma GSC training data; blinded histopathology adjudication. · Performance validated against blinded expert histopathology. |
| Peer-reviewed | Yes |
| FDA decision summary | — |
Key publications
- Performance of a Genomic Sequencing Classifier for the Preoperative Diagnosis of Cytologically Indeterminate Thyroid Nodules pivotalJAMA Surgery · 2018
Limitations noted
Patel 2018 cohort is small (N=191); cancer prevalence (24%) is higher than some real-world indeterminate-nodule populations, which affects NPV. Test is intended as a rule-out (high NPV) — PPV is moderate; benign Afirma calls should still be followed by ultrasound surveillance per ATA guidelines. Afirma GSC is LDT — no FDA analytical review.
Deployment
| Available | Yes |
Sources
- https://www.veracyte.com/afirma · company · 2026-04-20
How to cite this entry
Elbakri A. OncologyAI Registry: Afirma Genomic Sequencing Classifier. Available at: https://oncologyairegistry.org/tools/veracyte-afirma-gsc.html. Accessed [date].