Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

Abstract

Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using self-report questionnaires (including the State-Trait Anxiety Inventory) in 517 adults, administered three times to the prospective cohort (PCo: n = 264) and once to the retrospective cohort (RCo: n = 253). The main motivations for undergoing PGT were “to remove doubt” and “for their children”. The level of anxiety increased between pre-test and result appointments (p <0.0001), returned to baseline after the result (PCo), and was moderately elevated at 4.4 years (RCo). Subjects with a history of depression or with high baseline anxiety were more likely to develop anxiety after PGT result (p = 0.004 and p <0.0001, respectively), whatever it was. Unfavourable changes in professional and/or family life were observed in 12.4% (PCo) and 18.7% (RCo) of subjects. Few regrets about PGT were expressed (0.8% RCo, 2.3% PCo). Medical benefit was not the main motivation, which emphasises the role of pre/post-test counselling. When PGT was performed by expert teams, the negative impact was modest, but careful management is required in specific categories of subjects, whatever the genetic test result.

What do women want to see in a personalized breast cancer risk report? A qualitative study of Asian women of two countries

“…Given the nature of the testing as a diagnostic prediction, a negative psychological impact could occur following the risk assessment testing regardless of the test result. However, the anxiety level could be modest if patients understood what their report said [34] and the testing was performed by expert teams [35]. This emphasizes the importance of providing proactive personalized, pre- and post-test counselling conducted by counsellor who has sufficient understanding in personalized risk assessment for BC.…”

The Evolving Role of Diagnostic Genomics in Kidney Transplantation

“…The process of offering testing for a familial gene variant in an apparently unaffected individual is called predictive genetic testing and aims to clarify their risk of kidney disease, which can be a significant health revelation, and potentially determine their suitability to proceed with kidney donation. Many studies have indicated that predictive testing carries significant anxiety for many people, 57 , 58 , 59 and as such it is important that they undergo proper pretest and post-test counseling.…”

Informed Consent for Genetic and Genomic Research

“…However, research to date generally shows that individuals who are mutation‐positive respond with moderately increased levels of distress in the short term but with declines in distress in the longer term (Lerman & Shields, 2004). That is, the majority of individuals cope successfully with the bad news (Bordet et al., 2020; Codori, Slavney, Rosenblatt, & Brandt, 2004). Those who obtain good news generally show significant declines in distress from pretest time points.…”