Incidental findings of inherited thrombosis and hemostasis disorders in clinical exomes with unrelated indications

Maria D'Apolito; Giovanna D'Andrea; Grazia Pia Palladino; Caterina Ceccarini; Giorgia Cordisco; Angelica Leccese; Iolanda Adipietro; Pietro Stanziale; Maurizio Margaglione; Rosa Santacroce

doi:10.3324/haematol.2026.301396

September 3, 2026HaematologicaOpen Access

Incidental findings of inherited thrombosis and hemostasis disorders in clinical exomes with unrelated indications

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Key Points

To evaluate the occurrence and clinical significance of incidental pathogenic variants in genes related to inherited thrombosis and hemostasis disorders among individuals undergoing exome sequencing for unrelated indications.
Evaluated clinical exome sequencing data from individuals undergoing diagnostic genomic testing for non-hematologic indications.
Identified and annotated secondary variants in established genes implicated in inherited thrombophilia and bleeding diatheses according to standard clinical variant classification guidelines.
Detected incidental pathogenic and likely pathogenic variants in genes associated with inherited disorders of hemostasis and thrombosis in patients without prior hematologic suspicion.
Showed that systematic evaluation of secondary genomic findings identifies silent bleeding or thrombotic liabilities that warrant proactive clinical surveillance and intervention.

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Implication

Genomic analysis reveals incidental inherited thrombosis and hemostasis variants in clinical exomes, highlighting opportunities for proactive management of bleeding and clotting disorders.

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Cite This Study

D'Apolito et al. (2026) studied this question.

synapsesocial.com/papers/6a9bd49d6b95aff0620ec596 https://doi.org/10.3324/haematol.2026.301396

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Incidental findings of inherited thrombosis and hemostasis disorders in clinical exomes with unrelated indications

Key Points

No abstract yet

Implication

Discussion

Cite This Study

Incidental findings of inherited thrombosis and hemostasis disorders in clinical exomes with unrelated indications

Key Points

No abstract yet

Implication

Discussion

Cite This Study

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