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  • Psychological impact of genetic testing for hereditary cancer: A systematic review

  • Fereshteh Yazdani,1 Diana Azizi,2,*
    1. Sexual and Reproductive Health Research Center, Mazandaran University of Medical Sciences, Sari, Iran.
    2. Assistant professor, Department of Reproductive Health and Midwifery, Sexual and Reproductive Health Research Center, Mazandaran University of Medical Sciences, Sari, Iran


  • Introduction: Introduction: Genetic testing for hereditary cancer syndromes such as BRCA1/2 and Lynch syndrome, is central to modern cancer prevention and risk management. Alongside clinical benefits, testing and risk disclosure may trigger complex psychological responses. This study assesses systematically the evidence on psychological impact of genetic testing for hereditary cancer.
  • Methods: Methods: In this systematic review, following PRISMA guidelines 2020, we systematically searched PubMed, Scopus, Web of Science, PsycINFO and Google Scholar for studies published between 2000 and 2026. We included randomized controlled trials, cohort, case–control, cross sectional, and qualitative studies examining psychological outcomes in individuals undergoing genetic counseling or testing for hereditary cancer syndromes. Outcomes of interest included anxiety, depression, general distress and cancer specific concerns. Two reviewers (D.A. & F.Y.) independently screened studies, extracted data, and assessed methodological quality. Randomized trials were appraised with the Cochrane Risk of Bias 2 tool, observational studies with the Newcastle–Ottawa Scale, and qualitative studies with the Critical Appraisal Skills Programme checklist. Overall evidence certainty was considered using GRADE principles.
  • Results: Results: A total of 42 studies (n = 8,763 participants) met inclusion criteria. Many studies reported short term increases in anxiety, depression and cancer related distress following genetic testing, particularly among carriers of pathogenic variants and those receiving uncertain results (11 studies). However, general psychological functioning typically returned to baseline within 6–12 months (four studies). Persistent elevation in cancer specific concern was observed among high penetrance mutation carriers, though sustained clinically significant depression was uncommon (six studies). Protective factors included comprehensive pre test counseling, strong social support, higher health literacy, and adaptive coping. Younger age (five studies), pre existing mental health conditions (seven studies), and variants of uncertain significance (four studies) were associated with greater psychological burden. Interventions incorporating structured psychological support or decision aids reduced distress and decisional conflict according to the results of 12 studies. According to the results quality assessment, 29 studies had good quality, 11 studies had fair and two studies had poor quality.
  • Conclusion: Conclusions: Hereditary cancer genetic testing is associated with transient psychological distress but generally does not produce long term adverse mental health outcomes. Nonetheless, identifiable high risk subgroups may benefit from targeted psychosocial support. Integrating systematic psychological assessment and tailored interventions into genetic oncology services is recommended to optimize informed decision making and long term adaptation.
  • Keywords: Keywords: Hereditary cancer, genetic testing, psychological impact, cancer related distress, anxiety

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