Thyroid Cancer Polygenic Risk Score Improves Classification of Thyroid Nodules as Benign or Malignant

Pozdeyev, N; Dighe, M; Barrio, M; Raeburn, C; Smith, H; Fisher, M; Chavan, S; Rafaels, N; Shortt, JA; Lin, M; Leu, MG; Clark, T; Marshall, C; Haugen, BR; Subramanian, D; Crooks, K; Gignoux, C; Cohen, T

doi:10.1210/clinem/dgad530

Thyroid disease

Thyroid Cancer Polygenic Risk Score Improves Classification of Thyroid Nodules as Benign or Malignant

J Clin Endocrinol MetabPublished 8 Sep 2023Diagnostic accuracy study

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Authors' conclusion

Augmenting ultrasound-based risk assessment with PRS improves diagnostic accuracy.

Study context

Population: Thyroid nodules (621 for classifier training); Polygenic risk score (PRS) evaluated in Colorado Center for Personalized Medicine Biobank participants621 thyroid nodules
Participants: 73,346 participants

Comparison: Deep learning ultrasound classifier combined with thyroid cancer PRS and genetic ancestry vs deep learning classifier alone
Outcome: Benign vs malignant thyroid nodule classification (AUROC)

Methodological detailsdeep learning classifier, polygenic risk score, biobank-based

Deep learning classifier
Polygenic risk score
Biobank-based

Performance

As reported in the abstract

Test or model	AUROC	Sensitivity	Specificity	PPV	NPV
Deep learning + PRS	0.89	0.95 (95% CI 0.88-0.99)	0.63 (0.55-0.70)	0.47 (0.41-0.58)	0.97 (0.92-0.99)
Deep learning	0.83	— not stated in the abstract	— not stated in the abstract	— not stated in the abstract	— not stated in the abstract

AUROC

Deep learning + PRS0.89

Deep learning0.83

Sensitivity

Deep learning + PRS0.95 (95% CI 0.88-0.99)

Deep learning—

Specificity

Deep learning + PRS0.63 (0.55-0.70)

Deep learning—

PPV

Deep learning + PRS0.47 (0.41-0.58)

Deep learning—

NPV

Deep learning + PRS0.97 (0.92-0.99)

Deep learning—

— not stated in the abstract

Deep learning + PRS vs Deep learning: DeLong, P value = .007 — AUROC increased from 0.83 to 0.89

Further findings

Outcome	Deep learning + PRS	Deep learning
AUROC, European ancestry-stratified analysis
AUROC	0.87	0.83

Thyroid cancer structural disease recurrence by PRS

Elevated PRS associated with greater risk of structural disease recurrence (ordinal logistic regression): P = 0.002

Original publication

Thyroid Cancer Polygenic Risk Score Improves Classification of Thyroid Nodules as Benign or Malignant. J Clin Endocrinol Metab. Published 8 September 2023. doi:10.1210/clinem/dgad530

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