Publicaciones científicas

Psychological impact of multi-gene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain

02-mar-2018 | Revista: Psychooncology

Esteban I (1,2), Vilaró M (3), Adrover E (4), Angulo N (5), Carrasco E (1), Gadea N (6), Sánchez A (7), Ocaña T (7), Llort G (8), Jover R (9), Cubiella J (10), Servitja S (11), Herráiz M (12), Cid L (13), Martínez S (14), Oruezábal-Moreno MJ (15), Garau I (16), Khorrami S (17), Herreros de Tejada A (18), Morales R (19), Cano JM (20), Serrano R (21), López-Ceballos MH (22), González-Santiago S (22), Juan-Fita MJ (23), Alonso-Cerezo C (24), Casas A (25), Graña-Suarez B (26), Teulé A (27), Alba E (28), Antón A (29), Guillén-Ponce C (30), Sánchez-Heras AB (31), Alés-Martínez JE (32), Brunet J 33, Balaguer F (7), Balmaña J (1,2,6).


Patients' psychological reactions to multi-gene cancer panel testing might differ compared with the single-gene testing reactions due to the complexity and uncertainty associated with the different possible results. Understanding patients' preferences and psychological impact of multi-gene panel testing is important to adapt the genetic counselling model.


One hundred and eighty-seven unrelated patients with clinical suspicion of hereditary cancer undergoing a 25-gene panel test completed questionnaires after pre-test genetic counseling and at one week, three months and twelve months after results to elicit their preferences regarding results disclosure and to measure their cancer worry and testing-specific distress and uncertainty.


A pathogenic variant was identified in 38 patients (34 high penetrance and 4 moderate penetrance variants) and 54 patients had at least one VUS. Overall, cancer panel testing was not associated with an increase in cancer worry after results disclosure (p value=0.87). Twelve months after results, carriers of a moderate penetrance variant had higher distress and uncertainty scores compared to carriers of high penetrance variants. Cancer worry prior to genetic testing predicted genetic testing specific distress after results, especially at long-term (p value<0.001). The majority of patients reported the wish to know all genetic results.


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 warrants further research.

CITA DEL ARTÍCULO  Psychooncology. 2018 Jun;27(6):1530-1537. doi: 10.1002/pon.4686. Epub 2018 Mar 26