Abstract 1850P
Background
Cascade testing (CT) for hereditary cancer predisposition syndromes in families of pathogenic variant (PV) carrier enables precisely targeted surveillance and risk-reducing strategies. Genetic test results communication within families is key to enhance CT. The frequency and factors associated with carriers’ disclosure of test results to family members and CT were studied at 2 cancer centers in Mexico.
Methods
Carriers answered a multiple-choice survey ≥6 months after receiving test results and genetic counseling, including education and recommendations on CT. Fisher’s exact test was used to explore associations.
Results
A total of 177 carriers (median age: 43 years [20-77]) were included. Most were female (89%), had public insurance (51%) and did not pay out-of-pocket for their genetic test (87%). Overall, 113 (64%) reported a cancer diagnosis in the past –most commonly breast cancer (82%)– and 65 (37%) stated a relative had been diagnosed with cancer since their last genetic consultation. Of note, 14% of carriers were unaware of having a PV, yet 99% claimed having shared their results with ≥1 of their 1st (54%) or 2nd (7%) degree relatives, or both (39%). Most (88%) encouraged their relatives to get tested and 66% of families initiated CT (≥1 relative). Carriers’ education level, health coverage and personal or family history of cancer were not associated with these CT attitudes. Respondent-perceived benefits of undergoing genetic testing were enhanced personal prevention/health control (73%), informing family members about their cancer risk (67%), and enabling prevention/health control for their relatives (58%). Lastly, carriers stated that receiving a personalized letter (51%) or informative brochure (48%), and a conversation between their relatives and their physician (40%) could facilitate the communication of their test results.
Conclusions
High rates of test results disclosure within families and CT were observed, consistent with carriers’ perception that genetic testing benefited their personal and relatives’ health. Yet, an important percentage were unaware of their carrier status, which might preclude CT initiation among all high-risk individuals. Offering written or verbal aid could improve understanding of carrier status and foster CT.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.