Tailored chemotherapy based on tumour gene expression analysis: breast cancer patients' misinterpretations and positive attitudes

Abstract

The aim of this study was to document how breast cancer patients perceive their prognosis and a tailored treatment based on tumour gene expression analysis, and to identify the features of this approach that may impact its clinical application. In-depth interviews were conducted at three French cancer centres with 37 women (35-69 years of age) with node-positive breast cancer undergoing an adjuvant chemotherapy regimen defined on the basis of the genomic signature predicting the outcome after chemotherapy. Several concerns were identified. First, some misconceptions about these methods were identified due to semantic confusions between the terms 'genomic' and 'genetic', which generated anxiety and uncertainty about the future. Second, the 'not done' and 'not interpretable' signatures were misinterpreted by the women and associated with highly negative connotations. However, the use of tumour genomic analysis to adapt the treatment to each patient received most of the patients' approval because it was perceived as an approach facilitating personalised medicine. In conclusion, improving the quality of provider/patient communications should enable patients to play a more active part in the decision making about their treatment. This will ensure that those who agree to have tumour gene analysis have realistic expectations and sound deductions about the final result disclosure process.

Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care

“…In the context of personalized cancer care, much of the extant literature explores gene-expression profiling in the adjuvant and neo-adjuvant breast cancer setting (eg, Oncotype DX, Mammaprint). [17][18][19][20] Findings from this literature point to broad enthusiasm about the potential to 'personalize' care 17,21,22 and reduce uncertainty. 20,23 There is also, however, some evidence of patient confusion regarding the meaning of test results (eg, whether germline or somatic variants are identified).…”

“…20,23 There is also, however, some evidence of patient confusion regarding the meaning of test results (eg, whether germline or somatic variants are identified). 17 In addition, issues of access and equity have started to be raised in the conceptual literature, 24 and there is some empirical evidence of consumer concern about access to relevant tests. 17,21 In addition, emerging literature attends to the identification of genetic risk information using next-generation sequencing technologies and highlights expectations related to research participation and preferences for results, 25 including incidental results.…”

“…17 In addition, issues of access and equity have started to be raised in the conceptual literature, 24 and there is some empirical evidence of consumer concern about access to relevant tests. 17,21 In addition, emerging literature attends to the identification of genetic risk information using next-generation sequencing technologies and highlights expectations related to research participation and preferences for results, 25 including incidental results. Yet, although research exploring patient experiences with testing for inherited health risks is extensive, 26,27 research on the effects of receiving unexpected or uncertain genetic information is less developed.…”

Chimiothérapie ciblée du cancer du sein basée sur une analyse génomique de la tumeur

“…Dans les différentes études, la plupart des femmes interrogées reconnaissaient n'avoir jamais entendu parler de ces techniques auparavant, ou en avaient une compréhension relativement sommaire [19,20]. Dans notre étude, les termes « génomique » ou « expression génique » suscitaient un certain nombre de malentendus et confusions [21]. La majorité des patientes se rappelaient avoir donné leur consentement, avant l'intervention chirurgicale, pour la réalisation d'une analyse de leur tumeur servant à guider le choix du protocole de chimiothérapie adjuvante, mais les mots « génomique » ou « expression génique » avaient une signification très floue, voire aucune signification, pour 17 patientes sur 37 : « Analyse génonémique ?…”

“…Le premier problème est le sens accordé aux analyses qui, pour des raisons techniques, ne sont pas faites ou ne sont pas interprétables, ce qui génère anxiété et incertitude pour l'avenir [21]. Si une signature positive est généralement reçue de façon positive, car signifiant que le pronostic de la maladie est bon, à l'inverse une mauvaise signature, ou une signature négative, est souvent interprétée comme l'indice d'un pronostic péjoratif.…”