Evaluation of a decision aid for families considering p53 genetic counseling and testing

• Authors: Susan K. Peterson, University of Texas; Rebecca Pentz, Emory University; Amie M. Blanco, University of California San Francisco; Patricia A. Ward, Baylor College of Medicine; Betty G. Watts, University of Texas; Salma K. Marani, University of Texas; Leslie James, University of Texas; Louise C. Strong, University of Texas
• Journal Title: Genetics in Medicine
• Volume: Volume 8, Number 4
• Publisher: Springer Nature [academic journals on nature.com]: Hybrid Journals - choice of CC licence | 2006-04-01, Pages 226-233
• Type of Work: Article | Post-print: After Peer Review
• Publisher DOI: http://doi.org/10.1097/01.gim.0000214632.52958.01
• Subjects: Biology, Genetics
• Keywords: Science & Technology; Life Sciences & Biomedicine; Genetics & Heredity; p53; decision aid; genetic counseling; genetic testing; psychosocial; BREAST-CANCER SUSCEPTIBILITY; LI-FRAUMENI-SYNDROME; SOFT-TISSUE-SARCOMA; FUTURE-DIRECTIONS; COMPUTER-PROGRAM; CONTROLLED-TRIAL; MUTATIONS; RISK; KNOWLEDGE; VALIDATION

Abstract

Purpose: Li-Fraumeni syndrome (LFS) is associated with p53germline mutations, and carriers are at increased risk for multiple primary cancers. We evaluated outcomes following the administration of a video-based decision aid (DA) prior to clinical p53 genetic counseling and testing among persons who had previously participated in cancer genetics research. Methods: Fifty-seven individuals at risk for a known p53 mutation completed baseline and post-DA measures of psychological outcomes, plus knowledge and attitudes regarding p53 genetic testing. Counseling and testing uptake also was recorded. Results: At baseline, multivariate analysis showed that greater testing intention was associated with lower decisional conflict (P < 0.01). Compared with baseline data, multivariate analyses of post-DA outcomes showed that knowledge about LFS and genetic testing increased and decisional conflict related to testing decreased (P < 0.001). Mean cancer worries scores decreased among all participants (P < 0.001), and mean depression scores decreased for males (P < 0.05). Thirty-nine (68%) completed pre-test genetic counseling and 23 (40%) subsequently gave a blood sample for clinical genetic testing. Conclusion: This intervention was useful as an initial outreach and educational method for families considering p53 genetic testing, and may improve knowledge about LFS as well as psychological outcomes.