P511: Motivators and stress-related predictors of genetic testing in undiagnosed diseases: Insights from patients and parents pre- and post-diagnosis

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Authors: Olfa Messaoud, Rahaf Tarawneh, Melanie O’Leary, Ashana Neale, Eva Martinez, Siwaar Abouhala, Jillian Serrano, Heidi L. Rehm, Anne O’Donnell‐Luria, Monica H. Wojcik
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Abstract

Conclusion:In summary, across 12 HRN sites, GC uptake among patients with positive CDCT1 results was moderate, with about half completing a session.This is consistent with prior genetic counseling uptake rates in a population genomic screening setting.Most individuals who declined GC were already aware of their result or had previously received counseling, suggesting prior awareness and perceived redundancy as key drivers of non-participation.Practical barriers, such as time constraints, played a smaller role.Overall, genetic counseling uptake was moderate and consistent across conditions, with higher participation among females and individuals aged 49-58 years.These findings highlight the need to reduce barriers and support access to GC for all patients, ensuring they understand their results and care options.

Fields of Study & Subjects

Genomics and Rare Diseases BRCA gene mutations in cancer Ethics in Clinical Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104003–104003
Publication date
1 January 2026
Language
EN