Distress in unaffected individuals who decline, delay or remain ineligible for genetic testing for hereditary diseases: a systematic review

Abstract

Objective: Reviews on the psychosocial aspects of genetic testing for hereditary diseases typically focus on outcomes for carriers and non-carriers of genetic mutations. However, the majority of unaffected individuals from high-risk families do not undergo predictive testing. The aim of this review was to examine studies on psychosocial distress in unaffected individuals who delay, decline or remain ineligible for predictive genetic testing.Method: Systematic searches of Medline, CINAHL, PsychINFO, PubMed and handsearching of related articles published between 1990 and 2012 identified 23 articles reporting 17 different studies that were reviewed and subjected to quality assessment.Results: Findings suggest definitions of delaying and declining are not always straightforward and few studies have investigated psychological distress among individuals who remain ineligible for testing. Findings related to distress in delayers and decliners have been mixed, but there is evidence to suggest cancer-related distress is lower in those who decline genetic counselling and testing, compared with testers, and that those who remain ineligible for testing experience more anxiety than tested individuals. Psychological, personality and family history vulnerability factors were identified for decliners and individuals who are ineligible for testing. Conclusions:The small number of studies and methodological limitations preclude definitive conclusions. Nevertheless, subgroups of those who remain untested appear to be at increased risk for psychological morbidity. As the majority of unaffected individuals do not undergo genetic testing, further research is needed to better understand the psychological impact of being denied the option of testing, declining and delaying testing. IntroductionDespite early concerns over the potential for adverse psychological responses to genetic testing for disease risk [1], no systematic negative long-term psychological outcomes have been demonstrated [2,3]. This may be attributable to the success of genetic counselling in facilitating adaptation to receiving genetic results as well as the benefits of reducing uncertainty regarding risk and providing information to guide screening, prevention or treatment decisions [4,5]. However, little is known about the impact of not receiving genetic test results in the presence of a family history of disease.

Women’s concerns about the emotional impact of awareness of heritable breast cancer risk and its implications for their children

“…Anxiety and depression surrounding genetic counseling have long been tied to poorer emotional ) and behavioral (Heiniger et al 2013;Rini et al 2009;Schwartz et al 2012) outcomes among those seeking BRCA1/2 testing. Whether this finding reflects women's accurate understanding of their tendency to experience negative affect and/or reflects biased forecasting as noted above is unclear.…”

“…For instance, the emotional state of mothers who have received genetic test results-and the experience of anxious and/or depressive symptomatology in particular-are associated with both psychological ) and behavioral (Heiniger et al 2013;Rini et al 2009;Schwartz et al 2012) outcomes following genetic testing. Beyond current symptoms, stable traitlike factors, such as one's "need for cognition," may also result in biased predictions of a future emotional state following genetic testing.…”

Psychiatric implications of cancer genetic testing

“…41 It has been reported that some unaffected individuals from high-risk cancer families who seek cancer genetic testing but are ineligible for it still have high anxiety. [42][43][44] Approximately 33% of individuals who are eligible for cancer genetic testing may choose not to be tested (decliners) or may plan to be tested at a later date (delayers). 45,46 Studies have explored the characteristics of individuals from high-risk breast and ovarian cancer families who decline testing and observed that approximately half (51%) withdrew after the first session, with 36.3% of the decliners stating they were "afraid of the psychological effects of genetic testing."…”

Outcomes of genetic evaluation for hereditary cancer syndromes in unaffected individuals

“…While data exist on the likelihood of identifying mutations in probands affected with cancer and subsequent testing of at risk family members [8,17], no literature was identified that reports on follow up and outcomes among consultands without cancer when they are the first family member to present for cancer genetic risk evaluation. Cruger [16] report on a strategy of testing multiple unaffected family members when the affected family member is not available, in order to increase the likelihood of finding an informative result, however note that this strategy is limited to scenarios where multiple relatives are available for testing and the family history has a very high degree of suspicion.…”

“…While successful in some families in identifying a BRCA1/2 mutation, this strategy is limited in benefit to smaller families and requires cooperation from multiple relatives [16]. The outcomes of delaying GT in a healthy consultand to test affected relatives have not been well documented and may have psychological implications [17]. While the benefit of initiating GT in an affected family member can increase the likelihood of informative results, we hypothesize that this strategy results in missed opportunities to identify families with inherited cancer predisposition and to provide appropriate cancer surveillance recommendations.…”