Send to

Choose Destination
Front Genet. 2018 Dec 10;9:624. doi: 10.3389/fgene.2018.00624. eCollection 2018.

A Systematic Review of the Psychological Implications of Genetic Testing: A Comparative Analysis Among Cardiovascular, Neurodegenerative and Cancer Diseases.

Author information

Department of Oncology and Hematoncology, Interdisciplinary Research Center on Decision Making Processes, University of Milan, Milan, Italy.
Applied Research Division for Cognitive and Psychological Science, IEO Istituto Europeo di Oncologia, Milan, Italy.


Background: Genetic testing is performed for different purposes, such as identifying carriers, predicting a disease onset in presymptomatic individuals or confirming a diagnosis. However, these tests may have notable psychological effects, such as generating anxiety and depression. These effects may depend on people's perception of risk, severity, and controllability of the disease; and the availability of treatments. To date, there are no reports that analyze these factors specifically, and their role in influencing genetic test users' experience. Methods: We performed a systematic review of the psychological implication of undergoing genetic testing for cardiovascular, neurodegenerative and cancer diseases. Articles were searched on PubMed, Google Scholar, and PsychInfo. Results: 47 studies were included, 9 concerning cardiovascular disease, 18 neurodegenerative disorders, and 20 for cancer disease. According to the reviewed studies, people experience no significant increase in distress and anxiety, or adverse impacts on quality of life, except the Huntington disease, which is characterized by depressive symptoms, suicidal ideations, and hopelessness in gene carriers. People tend to consider genetic tests as valid information to take important preventive decisions. Genetic risk for cardiovascular disease is perceived to be manageable; genetic analysis for some neurodegenerative diseases (e.g., Alzheimer) or cancer (breast cancer in particular) is considered useful because the problem could be addressed in advance with preventive behaviors. Conclusions: Genetic tests should be proposed along with proper psychological support and counseling focused on users' genetic health literacy; perception of risk, beliefs about disease controllability, in order to foster fruitful medical decisions.


chronic disease; genetic risk; genetic testing; health psychology; psychological implication; quality of life

Supplemental Content

Full text links

Icon for Frontiers Media SA Icon for PubMed Central
Loading ...
Support Center