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

Abstract

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. 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. Findings suggest that 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 that 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. 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.