Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain

Esteban, I.; Vilaró, Marta; Adrover, Encarna; Angulo, Aracely; Carrasco, Estela; Gadea, Neus; Sánchez, Ariadna; Ocaña, Teresa; Llort, Gemma; Jover, Rodrigo; Cubiella, Joaquín; Servitja, Sònia; Herraiz, Maite; Cid, Lucía; Martínez, Susana; Oruezábal-Moreno, M.J.; Garau, Isabel; Khorrami, Sam; Herreros–de–Tejada, Alberto; Morales, R. Ramirez; Cano, Juana María; Serrano, Raquel; López-Ceballos, M.H.; González-Santiago, Santiago; Juan-Fita, María José; Alonso-Cerezo, Concepción; Casas, Ana; Graña, Begoña; Teulé, Àlex; Alba, Emilio; Antón, A.; Guillén‐Ponce, Carmen; Sanchez-Heras, A. B.; Alés‐Martínez, José E.; Brunet, Joan; Balaguer, Francesc; Balmañà, Judith

doi:10.1002/pon.4686

Cited by 32 publications

(73 citation statements)

References 34 publications

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“…Approximately 16 percent of the participants chose to learn less than all the information available (for example, some chose not to learn the results for genes unrelated to breast or ovarian cancer); these preferences were not related to demographic or self‐reported psychological factors. A similar study of multigene panel testing in Spain also found varying information preferences among participants pursuing testing, with 84 percent preferring to learn VUS results and 92 percent desiring to learn results for moderate‐penetrance genes . Thus, although most individuals appear to prefer to receive all available genetic‐risk information, some hold distinct preferences for receiving only specific types of information.…”

Section: Current Findings Regarding Psychosocial Effects Of Multigenementioning

confidence: 88%

Psychosocial Effects of Multigene Panel Testing in the Context of Cancer Genomics

Hamilton¹

2019

Hastings Center Report

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In recent years, with both the development of next‐generation sequencing approaches and the Supreme Court decision invalidating gene patents, declining costs have contributed to the emergence of a new model of hereditary cancer genetic testing. Multigene panel testing (or multiplex testing) involves using next‐generation sequencing technology to determine the sequence of multiple cancer‐susceptibility genes. In addition to high‐penetrance cancer‐susceptibility genes, multigene panels frequently include genes that are less robustly associated with cancer predisposition. Scientific understanding about associations between many specific moderate‐penetrance gene variants and cancer risks is incomplete. The emergence of multigene panel tests has created unique challenges that may have meaningful psychosocial implications. Contrasted with the serial testing process, wherein patients consider the personal and clinical implications of each evaluated gene, with multigene panel testing, patients provide broad consent to whichever genes are included in a particular panel and then, after the test, receive in‐depth genetic counseling to clarify the distinct implications of their specific results. Consequently, patients undergoing multigene panel testing may have a less nuanced understanding of the test and its implications, and they may have fewer opportunities to self‐select against the receipt of particular types of genetic‐risk information. Evidence is conflicting regarding the emotional effects of this testing.

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Section: Current Findings Regarding Psychosocial Effects Of Multigenementioning

confidence: 88%

Psychosocial Effects of Multigene Panel Testing in the Context of Cancer Genomics

Hamilton¹

2019

Hastings Center Report

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“…From our perspective, phenotype‐driven panels with opportunistic testing of BRCA1/2 and MMR genes is a conservative but efficient approach for offering cancer gene susceptibility diagnosis compared to expanded panels. The main reasons to pursue this are related to the uncertainty in cancer risk estimates and/or cancer risk spectrum for some of the genes, which has shown to translate in uncertainty in patients in our setting . In a diagnostic and rapid‐turnover setting, diagnostic laboratories may need to focus on testing the most clinically useful genes.…”

Section: Discussionmentioning

confidence: 99%

“…This adds a piece of complexity to genetic counseling and makes interpretation of results more difficult and time‐consuming for laboratories . All the above factors may increase uncertainty and distress in patients who undergo panel testing …”

Section: Introductionmentioning

confidence: 99%

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

Feliubadaló

López‐Fernández

Pineda

et al. 2019

Intl Journal of Cancer

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Multigene panels provide a powerful tool for analyzing several genes simultaneously. We evaluated the frequency of pathogenic variants (PV) in customized predefined panels according to clinical suspicion by phenotype and compared it to the yield obtained in the analysis of our clinical research gene panel. We also investigated mutational yield of opportunistic testing of BRCA1/2 and mismatch repair (MMR) genes in all patients. A total of 1,205 unrelated probands with clinical suspicion of hereditary cancer were screened for germline mutations using panel testing. Overall, 1,048 females and 157 males were analyzed, mean age at cancer diagnosis was 48; 883 had hereditary breast/ovarian cancer‐suspicion, 205 hereditary nonpolyposis colorectal cancer (HNPCC)‐suspicion, 73 adenomatous‐polyposis‐suspicion and 44 with other/multiple clinical criteria. At least one PV was found in 150 probands (12%) analyzed by our customized phenotype‐driven panel. Tumoral MMR deficiency predicted for the presence of germline MMR gene mutations in patients with HNPCC‐suspicion (46/136 vs. 0/56 in patients with and without MMR deficiency, respectively). Opportunistic testing additionally identified five MSH6, one BRCA1 and one BRCA2 carriers (0.6%). The analysis of the extended 24‐gene panel provided 25 additional PVs (2%), including in 4 out of 51 individuals harboring MMR‐proficient colorectal tumors (2 CHEK2 and 2 ATM). Phenotype‐based panels provide a notable rate of PVs with clinical actionability. Opportunistic testing of MMR and BRCA genes leads to a significant straightforward identification of MSH6, BRCA1 and BRCA2 mutation carriers, and endorses the model of opportunistic testing of genes with clinical utility within a standard genetic counseling framework.

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“…Moreover, links between avoidance and, concerns about hereditary predisposition or worries about personal cancer emerged in women who received a VUS result. The disclosure of an ambiguous test result with a lack of actionability may be difficult to understand, maintain uncertainty and distress and require further counselling to interpret the significance of this result in the context of personal or familial cancer history …”

Section: Discussionmentioning

confidence: 99%

How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis

et al. 2019

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Background Increasingly complex genetics counseling requires guidance to facilitate counselees' psychosocial adjustment. We explored networks of inter‐relationships among coping strategies and specific psychosocial difficulties in women tested for hereditary breast or ovarian cancer. Methods Of 752 counselees consecutively approached, 646 (86%) completed questionnaires addressing coping strategies (Brief‐COPE) and psychosocial difficulties (PAHC) after the initial genetic consultation (T1), and 460 (61%) of them again after the test result (T2). We applied network analysis comparing partial correlations among these questionnaire scales, according to the type of genetic test ‐ single gene‐targeted or multigene panel, test result and, before and after testing. Results Overall, 98 (21.3%), 259 (56.3%), 59 (12.8%) and 44 (9.6%) women received a pathogenic variant, uninformative negative (panel testing), variant of uncertain significance (VUS) or true negative (targeted testing) result, respectively. In most networks, connections were strongest between avoidance and general negative emotions. Cognitive restructuring was inter‐related to lower psychosocial difficulties. Avoidance and familial/social relationship difficulties were strongly related in women receiving a pathogenic variant. Stronger inter‐relationships were also noticed between avoidance and worries about personal cancer and concerns about hereditary predisposition in women receiving a VUS result. Differences in the prominence of inter‐relationships were observed by type of testing and assessment time. Conclusions Network analysis may be fruitful to highlight prominent inter‐relationships among coping strategies and psychosocial difficulties, in women tested for HBOC susceptibility, offering guidance for counseling.

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Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain

Abstract: Our results suggest that patients can psychologically cope with cancer panel testing, but distress and uncertainty observed in carriers of moderate penetrance cancer variants in this cohort warrant further research.

Cited by 32 publications

References 34 publications

Psychosocial Effects of Multigene Panel Testing in the Context of Cancer Genomics

Psychosocial Effects of Multigene Panel Testing in the Context of Cancer Genomics

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis

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