Constructivist approach in genetic counseling: medical, psychological and familiar implications into patient-centered approach

Aim of the present Doctoral thesis entitled ‘Constructivist approach in genetic counseling: medical, psychosocial and familiar implications into patient-centered approach’ was to investigate the scientific landscape of the role of biopsychosocial approaches in the context of genetic counseling. The thesis is articulated in 2 parts: theoretical and scientific sections. The Theoretical Section exploited the research perspective in the genetic counseling pointing out the focus how to put the discoveries from genetic research to use in healthcare. Aim was to describe the produced potential new ways of predicting risk, of diagnosis, and disease prevention and treatment. Particularly, the genetic counseling process was analyzed in its several aspects: - providing information about test options - assessing psychological well-being - helping patients and families communicate about genetic risk - facilitating adaptation to grief and loss, interpreting results - assisting with decision-making and referrals The application of the biopsychosocial model seems essential in the context of genetic counseling: health as the result of multiple interacting biological, psychological, and social factors, and recognizes that behavior can be explained in terms of multiple contexts or levels of organization that mutually influence each other. Considering the genetic counseling might ask for individual adaptive dynamics, psychological distress seemed to be a matter of debate that was the starting point of experimental investigation of the thesis. The Scientific Section was structured on three studies based on the primary endpoint to contribute to model the psychological and behavioral implications to boost the efficiency of genetic counseling by multidisciplinary approach. Aim of Scientific Section was to highlight the relevance of clinical setting based on a patient-centered approach, tailoring clinical practice on the integration of physical, mental, and social factors to patients’ and relatives’ wellbeing, to enhance healthcare and patient lives. Scope was to investigate the genetic counseling impact in the disclosure toward to health management and Quality of Life of patients. During the PhD program n.3 studies have been conducted as follow: Study 1. BRCA genetic result disclosure for women with breast cancer: influence of +/- predisposition genetic mutation (observational study design) Study 2. Patient perspective in perceived comparative genetic mutation risk: an exploratory review (review study design) Study 3. Perceived cancer risk and genetic counselling: a biopsychological perspective to boost lifestyle medicine (observational study design) General objective of observational studies (n.1 and n.3 of the above list) was to examine a) the psychological impact of disclosure of BRCA genetic result, b) the emotional health of patients and, c) the role of cancer worry in the psychological dimensions of patients undergoing genetic testing.