Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?

Fam Cancer. 2023 Apr;22(2):127-133. doi: 10.1007/s10689-022-00316-x. Epub 2022 Oct 8.


Cascade testing for familial cancer syndromes has historically been difficult to execute. As part of a facilitated cascade testing pathway, we evaluated barriers to completion of cascade testing. Our previously published study evaluated a facilitated cascade testing pathway whereby a genetics team facilitated at-risk relative (ARR) cascade testing through telephone genetic counseling and mailed saliva kit testing. This follow-up study evaluated barriers to completion of cascade genetic testing through six-month follow-up telephone interviews. Probands identified 114 ARRs, of whom 97 were successfully contacted by telephone. Among those contacted, 83 (86%) reported interest in genetic testing and 14 (14%) declined. Among those reporting interest in testing, 71% (69/83) completed testing. Follow-up telephone interviews revealed that 14 ARRs did not complete testing despite reporting interest for the following reasons: concern about genetic discrimination, fear of a positive result and belief that the pathogenic variant was not relevant to his/her health. Five ARRs reported that they remained interested in testing and the telephone call prompted completion of testing. Even when facilitated by a medical team with prioritization of relative convenience, significant barriers to cascade testing ARRs for hereditary breast and ovarian cancer syndrome persist due to concern about genetic discrimination, cost, and fear of positive test results.

Keywords: Cascade genetic testing; Hereditary breast and ovarian cancer syndrome; Lynch syndrome; Predictive testing.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / genetics
  • Female
  • Follow-Up Studies
  • Genetic Counseling / methods
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Hereditary Breast and Ovarian Cancer Syndrome* / diagnosis
  • Hereditary Breast and Ovarian Cancer Syndrome* / genetics
  • Humans
  • Male
  • Ovarian Neoplasms* / diagnosis
  • Ovarian Neoplasms* / genetics