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Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review

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Abstract

Despite increased awareness and availability of genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome for over 20 years, there is still significant underuse of cascade genetic testing among at-risk relatives. This scoping review synthesized evidence regarding psychosocial barriers and facilitators of family communication and/or uptake of cascade genetic testing in relatives from HBOC families. Search terms included ‘hereditary breast and ovarian cancer’ and ‘cascade genetic testing’ for studies published from 2012–2022. Through searching common databases, and manual search of references, 480 studies were identified after excluding duplications. Each article was reviewed by two researchers independently and 20 studies were included in the final analysis. CASP, RoBANS 2.0, RoB 2.0, and MMAT were used to assess the quality of included studies. A convergent data synthesis method was used to integrate evidence from quantitative and narrative data into categories and subcategories. Evidence points to 3 categories and 12 subcategories of psychosocial barriers and facilitators for cascade testing: (1) facilitators (belief in health protection and prevention; family closeness; decisional empowerment; family support, sense of responsibility; self-efficacy; supportive health professionals); (2) bidirectional concepts (information; perception of genetic/cancer consequences; negative emotions and attitude); and (3) barriers (negative reactions from family and negative family dynamics). Healthcare providers need to systematically evaluate these psychosocial factors, strengthen facilitators and alleviate barriers to promote informed decision-making for communication of genetic test results and uptake of genetic testing. Bidirectional factors merit special consideration and tailored approaches, as they can potentially have a positive or negative influence on family communication and uptake of genetic testing.

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Acknowledgements

We acknowledge the K-CASCADE Consortium members:

K-CASCADE Consortium: Joon Jeong (Department of Surgery, Gangnam Severance Hospital, Yonsei University College of Medicine); Mi Sook Jung (College of Nursing, Chungnam National University); Jisun Kim (Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine); Sung-Won Kim (Department of Surgery, Breast Care Center, Dairim St. Mary’s Hospital); Myong Cheol Lim (Division of Tumor Immunology, Center for Gynecologic Cancer, Research Institute and Hospital, National Cancer Center); Eun Ji Nam (Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Institute of Women’s Life Medical Science, Yonsei University College of Medicine); Hyung Seok Park (Department of Surgery, Severance Hospital, Yonsei University College of Medicine); Ji Soo Park (Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center; Division of Medical Oncology, Department of Internal Medicine, Yonsei University College of Medicine); Sanghyun Park (Department of Computer Science, Yonsei University); Jai Min Ryu (Division of Breast Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine).

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Authors and Affiliations

  1. College of Nursing, Yonsei University, Seoul, Korea

    Agani Afaya, Jihye Kim, Minkyoung Kim & Soo Yeon Kim

  2. Department of Nursing, School of Nursing and Midwifery, University of Health and Allied Sciences, Ho, Ghana

    Agani Afaya

  3. Department of Breast Surgery, Breast Care Center, Dairim St. Mary’s Hospital, Seoul, Korea

    Sung-Won Kim

  4. Department of Surgery, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea

    Hyung Seok Park

  5. Division of Tumor Immunology, Center for Gynecologic Cancer, Research Institute and Hospital, National Cancer Center, Goyang, Korea

    Myong Cheol Lim

  6. College of Nursing, Chungnam National University, Daejeon, Korea

    Mi Sook Jung

  7. Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Institute of Women’s Life Medical Science, Yonsei University College of Medicine, Seoul, Korea

    Eun Ji Nam

  8. Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Division of Medical Oncology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea

    Ji Soo Park

  9. Department of Surgery, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea

    Joon Jeong

  10. Division of Breast Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

    Jai Min Ryu

  11. Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

    JiSun Kim

  12. Department of Nursing, Korea National University of Transportation, Jeungpyeong, Korea

    Juhye Jin

  13. Red Cross College of Nursing, Chung-Ang University, Seoul, Korea

    Jeehee Han

  14. Korea Armed Forces Nursing Academy, Daejeon, Korea

    Soo Yeon Kim

  15. College of Nursing, Daegu Catholic University, Daegu, South Korea

    Sun-Young Park

  16. Department of Clinical Research, University of Basel, Basel, Switzerland

    Maria C. Katapodi

  17. College of Nursing, Mo-Im Kim Nursing Research Institute, Yonsei University, Seoul, Korea

    Sue Kim

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the K-CASCADE consortium

Contributions

Conceptualization, AA, SYK and SK; literature search, AA, JHK, MKK, SYK, SYP; validation and analysis, AA, SYK, and SK; writing—original draft preparation, AA, SYK and SK; writing—review and editing, AA, SK and MCK; funding acquisition, SK. All authors have read and agreed to the published version of the manuscript.

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Correspondence to Sue Kim.

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Competing interests

Maria C. Katapodi is guest editor of this special issue of Familial Cancer but was not involved in the peer-review process of the manuscript. Otherwise, the authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

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Ethical review and approval were not necessary for this study, as it was a literature review of published studies.

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The following are available online, Table 1: search strategy, Tables 2a-2d: quality assessment.

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Afaya, A., Kim, SW., Park, H.S. et al. Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review. Familial Cancer (2024). https://doi.org/10.1007/s10689-024-00379-y

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