HER2DX is a genomic test for early HER2+ breast cancer clinically available since January 2022 as a Laboratory Developed Test. Based on the expression of 27 genes (nCounter) plus tumor and nodal staging, it predicts the risk of relapse (risk-score), the probability of achieving a pathological complete response (pCR-score), and the individual levels of
Intra- and inter- labs HER2DX scores were compared by testing a set of FFPE samples previously analyzed at DLab. All scores ranged from 0 to 100 and pre-defined cut-offs were used to get HER2DX-groups. Repeatability and reproducibility were evaluated from different tissue sections, RNA, or FFPE blocks. Simulations (n=1·106) were used to calculate diagnostic values (sensitivity, specificity, positive and negative predictive values, and accuracy). Robustness was measured by evaluating the interference of non-tumor tissue and by using different RNA quantities. Differences due to the nCounter instrument, Tagset lot, and Tagset defrost cycles were also evaluated. HER2DX performance using a RNAseq platform (Illumina Exome Panel) was compared to nCounter.
Repeatability analysis within CLab in 10 samples showed a maximal standard error among the 3 scores of 0.94 (scale 0-100). Reproducibility starting from RNA was analyzed in 20 samples, and the probabilities of +/- 5 units difference in the risk-score, pCR-score, and
Analytical validation of HER2DX has proven it to be suitable for its intended purpose.
Reveal Genomics, S.L.
Reveal Genomics, S.L.
M. Marín-Aguilera: Financial Interests, Institutional, Full or part-time Employment, Product Manager: Reveal Genomics, S.L. G. Villacampa: Financial Interests, Personal, Invited Speaker, Invited speaker in a course: MSD; Financial Interests, Personal, Advisory Board: AstraZeneca; Financial Interests, Personal, Invited Speaker, Invited speaker in an internal training: Pierre Fabre, GSK; Financial Interests, Personal, Invited Speaker, Internal discussion about the interpretation of some published results: Pfizer; Financial Interests, Personal, Other, Collaborations with specific projects: Reveal Genomics. F. Brasó-Maristany: Financial Interests, Personal, Invited Speaker: Reveal Genomics. J.A. Puig-Butille: Financial Interests, Personal, Invited Speaker: Thermo Fisher; Financial Interests, Personal, Funding: CareDX. A. Vivancos: Financial Interests, Personal, Advisory Board: Roche, Bristol Meyers Squibb, Guardant Health, Bayer, Incyte; Financial Interests, Personal, Stocks/Shares: Reveal Genomics; Financial Interests, Institutional, Research Grant, Preclinical Research Grant: Bristol Meyers Squibb, Roche, Incyte. J. Matito: Financial Interests, Personal, Full or part-time Employment: Reveal Genomics. C.M. Perou: Financial Interests, Personal, Invited Speaker: GeneCentric Therapeutics; Financial Interests, Personal, Stocks/Shares: GeneCentric Therapeutics, Bioclassifier LLC, Reveal Genomics; Financial Interests, Personal, Royalties, from PAM50 licensing: Bioclassifier LLC; Financial Interests, Personal, Royalties: GeneCentric Therapeutics; Non-Financial Interests, Advisory Role: GeneCentric Therapeutics, Bioclassifier LLC, Reveal Genomics. P. Villagrasa Gonzalez: Financial Interests, Personal and Institutional, Member of the Board of Directors: Reveal Genomics; Financial Interests, Personal and Institutional, Proprietary Information: Reveal Genomics. A. Prat: Financial Interests, Personal, Invited Speaker: Roche; Financial Interests, Personal, Invited Speaker, Lecture fees: Novartis, Daiichi Sankyo; Financial Interests, Personal, Advisory Board, Advisory role/consultancy: Novartis, Pfizer, Oncolytics Biotech, Guardant Health, Peptomyc; Financial Interests, Institutional, Invited Speaker, Clinical trials: Daiichi Sankyo; Financial Interests, Institutional, Other, Contracted research: Boehringer, Medica Scientia inno. Research; Financial Interests, Personal, Advisory Board: AstraZeneca; Financial Interests, Personal, Invited Speaker, Leadership role: Reveal Genomics, SL.; Financial Interests, Personal, Stocks/Shares: Reveal Genomics, Oncolytics Biotech; Financial Interests, Personal, Royalties: Reveal Genomics; Financial Interests, Institutional, Invited Speaker: Roche, AstraZeneca, Novartis; Financial Interests, Personal and Institutional, Invited Speaker: Daiichi Sankyo; Non-Financial Interests, Institutional, Other, Leadership roles: Patronage committee: SOLTI Foundation, Actitud Frente al Cáncer Foundation; Non-Financial Interests, Personal, Other, Asociación Española de Investigación sobre el Cáncer: ASEICA. J. Parker: Financial Interests, Personal, Other, Advisory: Reveal Genomics, Bristol Myers Squibb; Financial Interests, Personal, Full or part-time Employment: LifeEdit Therapeutics; Financial Interests, Personal, Ownership Interest: Reveal Genomics, GeneCentric; Financial Interests, Personal, Royalties: Veracyte. L. Pare Brunet: Financial Interests, Institutional, Full or part-time Employment: Reveal Genomics S.L.; Financial Interests, Institutional, Other, Patent pending: In vitro method for the prognosis of patients suffering from HER2-positive breast cancer - 905333: Reveal Genomics S.L. All other authors have declared no conflicts of interest.