Authors
Anishka Abeysinghe, Rachel Delahunty, Mary-Anne Young, Linh Nguyen, Paul A James, David Bowtell, Kathryn Alsop, Laura Forrest
Published in
Genetics in medicine : official journal of the American College of Medical Genetics. Pages 102770. Oct 12, 2026. Epub Oct 12, 2026.
Abstract
The Australian TRACEBACK program retrospectively identified women with tubo-ovarian cancer diagnosed between 2000 and 2016 who did not have genetic testing, most of whom were now deceased. Germline panel sequencing of 10 ovarian cancer-related genes was performed on tissue blocks or stored DNA. Probands or next of kin were notified of the sequencing outcome if a pathogenic variant was found. This exploratory study aimed to understand the experiences of probands and next of kin of receiving information from TRACEBACK, often unexpectedly.
Twenty-seven TRACEBACK participants were interviewed, and the qualitative data thematically analysed.
Many participants described 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 their cancer risk management options. The majority valued TRACEBACK for enabling them to clarify their cancer risk through cascade testing, which provided opportunities for cancer prevention measures. Participants suggested germline results should be returned to biologically related relatives to minimise the risk of information not being communicated to at-risk relatives.
The benefits of unexpectedly receiving genetic information from TRACEBACK outweighed any potential harms, but consideration about to whom notification occurs is needed.
PMID:
42861612
Bibliographic data and abstract were imported from PubMed on 12 Oct 2026.
Read full publication at:
Please sign in
to see all details.
Advertisement
Stats
- Recommendations n/a n/a positive of 0 vote(s)
- Views 5
- Comments 0