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Updated: Sep 11, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
[Oncogenetics and molecular tumor boards in private practice: Specificities and perspectives]
Daniel Toledano1, Benoist Chibaudel2, Jean-Marc Costa3
1Institut Rafael, 3, boulevard Bineau, Levallois-Perret, France; Groupement de coopération sanitaire Hauts-de-Seine, 3C Concorde, Hauts-de-Seine, France.
Background:
Genetic counseling and molecular tumor boards have become essential components of oncology care pathways. Since 2012, a private-sector oncogenetics program supported by the National Cancer Institute (INCa), has been established within the Hauts-de-Seine health cooperation group, in connection with partner laboratories and a dedicated molecular tumor board.
Methods:
The study includes 10,071 oncogenetic consultations carried out between 2013 and 2024, and 1012 patients who underwent circulating tumor DNA (ctDNA) analysis between 2020 and 2024. Results were discussed in molecular and oncogenetic tumor boards.
Results:
The median delay for a first consultation was 3 weeks, compared to 10 weeks nationally. Mutation detection rates in hereditary breast-ovarian syndromes ranged from 11 to 16%, higher than the national average (8.8%). Among the 1012 ctDNA-tested patients, 411 (40%) presented actionable tumor alterations, including 284 (28%) classified as ESCAT I. Additional constitutional testing was triggered in 112 patients, revealing 27 unsuspected pathogenic variants (2.7%).
Conclusion:
Private-practice oncogenetics and molecular tumor boards can achieve performance comparable to national indicators in terms of delays and mutation detection. The coordination between constitutional and tumor genetics activities enhances both therapeutic decisions and familial risk assessment.
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