Genetic testing for cancer, cardiovascular, and neurodegenerative diseases presents a low psychological burden in patients and should be considered for assisting in preventative measures against disease, according to the findings of a systematic review published in Frontiers in Genetics.

Italian researchers performed a systematic review of studies involving the psychological implication of genetic testing for cancer and cardiovascular and neurodegenerative diseases. A total of 47 studies were included in the final analysis. Of these studies, 9 were focused on cardiovascular diseases, 20 on cancer diseases, and 18 on neurodegenerative disorders.

Overall, no participants in the studies reported an increase in anxiety or distress during and after undergoing genetic testing. In addition, there were no reports of adverse effects on quality of life, with the exception of those reported in Huntington disease. The majority of patients across disease states believed genetic testing to be a valid method for creating clinically sound preventative decisions. In cardiovascular disease, the genetic risk is considered manageable, partly due to screenings and available treatments. Genetic testing for Alzheimer disease or cancer is deemed useful, particularly considering that these analyses can identify risk and facilitate prevention initiatives.

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According to the researchers, their study was limited in that the sexes were not balanced across included studies. In addition, the lack of a meta-analysis of the reviewed studies limits the ability to derive statistical significance of the findings.

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“Understand psycho-behavioral reactions could be an important starting point for an effective clinical application of genetic testing and to organize personalized care plans,” the investigators wrote, “which can drive patients to self-determination of a healthy lifestyle and to make appropriate decisions for their health.”


Oliveri S, Ferrari F, Manfrinati A, Pravettoni G. A systematic review of the psychological implications of genetic testing: a comparative analysis among cardiovascular, neurodegenerative and cancer diseases. Front Genet. 2018;9:624.