Improved health perception after genetic counselling for women at high risk of breast and/or ovarian cancer: construction of new questionnaires—an Italian exploratory study

• Published in: Journal of cancer research and clinical oncology 2016-03, Vol.142 (3), p.633-648
• Main Authors: Catania, Chiara, Feroce, Irene, Barile, Monica, Goldhirsch, Aron, De Pas, Tommaso, de Braud, Filippo, Boselli, Sabrina, Adamoli, Laura, Radice, Davide, Rossi, Alessandra, Spitaleri, Gianluca, Noberasco, Cristina, Bonanni, Bernardo
• Format: Article
• Language: English
• Subjects: Anxiety - epidemiology; Breast cancer; Breast Neoplasms - genetics; Breast Neoplasms - psychology; Cancer Research; Counseling; Educational Status; Female; Genetic Counseling - psychology; Health Status; Hematology; Humans; Internal Medicine; Italy; Medicine; Medicine & Public Health; Oncology; Original Article – Cancer Research; Ovarian cancer; Ovarian Neoplasms - genetics; Ovarian Neoplasms - psychology; Perception; Questionnaires; Risk Factors; Studies; Surveys and Questionnaires
• ISSN: 0171-5216; 1432-1335
• DOI: 10.1007/s00432-015-2062-7

Background Subjects referred to genetic counselling for cancer may have heightened perceptions of illness and death, even though they are healthy and this may cause anxiety and reluctance to follow through with consultation. We investigated such perceptions before and after counselling and genetic testing for cancer in a cohort of Italian women. We sought to understand the situation of the women referred by designing questionnaires administered to women at high risk of breast and/or ovarian cancer (those who had had a pathogenic mutation identified in a family member via diagnostic testing). We also assessed women after the diagnosis of breast cancers, but free of disease, to help determine risks in their families. Methods The first questionnaires were administered before initial counselling, and the second were completed within 20 days after the counselling. When a genetic test was proposed, the individual was asked to fill in a third questionnaire; the final questionnaire was administered after the person had received the results of the genetic test. Results We evaluated 204 subjects. Before counselling, 89 % of the subjects were worried about their risk of disease, 52 % felt “different” because of their personal and family history, and 39 % declared that their life choices were influenced by their fear of cancer. After counselling, 82 % of the subjects felt more relived about their pre-existing fears and stated that this process of being seen in a clinic with genetic expertise had clarified the meaning of disease risk for them, and for 50 %, this experience had positively influenced their life choices. Thirty percentage of the subjects had a positive test; all of them felt safer in being cared for by specifically trained staff. Fifty percentage had a less informative test (e.g. “wild-type” gene found); 84 % of them were not worried by the uncertainty, and overall, 96 % considered counselling to be very useful. Conclusion Candidates for genetic counselling frequently had heightened their perception of being ill, which influenced their ability to make life decisions. Genetic counselling often improves this perception, especially in subjects who have negative tests and this knowledge facilitates their life plans. After testing, most women felt satisfied and safer because of being properly followed by professionally trained and sympathetic staff. In conclusion, knowledge of the real individual risk, the presence of a professional team, and the possibility o