A systematic review of perceived risks, psychological and behavioral impacts of genetic testing

Abstract

Genetic testing may enable early disease detection, targeted surveillance, and result in effective prevention strategies. Knowledge of genetic risk may also enable behavioral change. However, the impact of carrier status from the psychological, behavior, and perceived risk perspectives is not well understood. We conducted a systematic review to summarize the available literature on these elements. An extensive literature review was performed to identify studies that measured the perceived risk, psychological, and/or behavioral impacts of genetic testing on individuals. The search was not limited to specific diseases but excluded the impacts of testing for single gene disorders. A total of 35 articles and 30 studies were included. The studies evaluated hereditary nonpolyposis colorectal carcinoma, hereditary breast and ovarian cancer, and Alzheimer disease. For affective outcomes, the majority of the studies reported negative effects on carriers but these were short-lived. For behavioral outcomes, an increase in screening behavior of varying rates was demonstrated in carriers but the change in behaviors was less than expected. With respect to perceived risk, there were generally no differences between carriers and noncarriers by 12 months after genetic testing and over time risk perception decreased. Overall, predispositional genetic testing has no significant impact on psychological outcomes, little effect on behavior, and did not change perceived risk. It seems as though better patient education strategies are required. Our data would suggest better knowledge among carriers would not have significant psychological impacts and therefore, it is worth pursuing improved educational strategies. Genet Med 2008:10(1):19 -32.

The psychological impact of genetic information on children: a systematic review

“…48 There is, however, an important subset of adults who experience significant distress after genetic testing. 7 There may be a similar pattern in children, such that subgroups of children may experience significant distress. This pattern may have been masked by focusing on mean distress scores in the reviewed studies.…”

“…[4][5][6] Research has highlighted both positive and negative implications for those who undergo genetic testing. 7 A key medical benefit of testing for a potentially harmful genetic alteration is that it may identify or eliminate the need for targeted screening. 3,8 Other potential benefits include the opportunity for targeted therapy or risk-reducing interventions, which may improve survival, and provide a sense of empowerment for patients and their families.…”

Prédisposition génétique aux cancers du sein et de l’ovaire

“…Les risques génétiques se déclinent en différentes composantes : la probabilité d'identifier une mutation d'un gène pré-disposant au cancer du sein et/ou de l'ovaire dans une famille ( BRCA1, BRCA2, autres…), la probabilité d'être porteur d'une mutation lorsque celle-ci est présente chez un apparenté, la probabilité de la transmettre à sa descendance. Il existe maintenant un consensus sur le fait que les consultations de génétique associées aux tests généti-ques améliorent significativement les connaissances sur les risques génétiques de maladie [12][13][14][15] . La question de l'influence de ces connaissances sur les cro yances et aussi porteuse de difficultés de compréhension pour les patients dans la mesure où ce résultat est considéré comme étant peu informatif .…”

“…Les premières études prospectives à moyen (3 ans) ou plus long terme (5 ans, cohorte Genepso) réalisées sur l'impact des résultats des tests sur les comportements de santé des femmes indemnes de cancer montrent une augmentation de la surveillance et de la chirur gie prophylactique après la mise en évidence d'une mutation [13,20,21]. Des résultats concordants sont retrouvés pour les femmes ayant déjà développé un cancer du sein et à qui une chirur gie controlatérale avait été proposée au moment de la chirurgie initiale en raison de l'identification antérieure d'une mutation BRCA1/2 [22].…”

Exploring dispositional tendencies to seek online information about direct-to-consumer genetic testing

“…Much of what we know about the association of individual characteristics and responses to genetic testing has been drawn from research on high-risk samples of individuals affected by highly heritable conditions [9,10]. Yet genetic testing is now accessible to a wide array of people for a variety of health conditions.…”