Background: The Australian TRACEBACK program retrospectively identifies women with tubo-ovarian cancer (most of whom are now deceased) who were not offered clinical genetic testing and performs germline panel sequencing. To date, TRACEBACK has notified 105 next-of-kin (NOK) or probands, about the identification of a pathogenic variant. Given the significant personal and familial implications of the unexpected information being communicated, the TRACEBACK evaluation (TRACEBACK.E) was conceptualised.
Aims: TRACEBACK.E aims to examine the perceived value, and clinical and psychosocial outcomes of TRACEBACK for probands, NOK, and family members.
Methods: TRACEBACK.E uses a sequential, mixed-methods design consisting of an online prospective, longitudinal survey and semi-structured interviews. NOK/probands were invited to TRACEBACK.E after they had been notified of germline information by TRACEBACK. Codebook thematic analysis with inductive coding of qualitative data was used to generate findings.
Results: Twenty-six interviews were performed with many describing their initial shock and distress when they were notified unexpectedly about the germline information. However, these feelings were moderated by a sense of pragmatism as they gained understanding of the cancer risk management options. The majority valued TRACEBACK as it enabled them to clarify their cancer risk through cascade testing, as many described fearing the opportunity for potentially life-saving genetic testing had passed. Further, TRACEBACK provided a definitive explanation for the ovarian cancer diagnosis, enabling exclusion of lifestyle or environmental causes. Participants suggested germline results should be returned to biologically related relatives to minimise the risk of information not being communicated by the NOK to at-risk relatives.
Conclusion: The benefits of unexpectedly receiving genetic information from TRACEBACK outweighed any potential harms, but consideration about to whom notification occurs is needed.