There is a strong interest from members of the community for more research to better pinpoint cancer risk with different mutations. Even for people with BRCA1 and BRCA2 mutations, which have been studied for over 20 years, risk assessment is not as accurate as people wish. This is even more apparent with newly identified mutations such as PALB2 and CHEK2 among others.
Blood relatives of people with BRCA mutations meet national guidelines for testing. Health care providers are limited in their ability to reach out to relatives of patients due to HIPPAA, putting increased pressure on patients who test positive to contact their relatives. Cascade testing – where one member who tests positive for a mutation notifies relatives – is considered an effective way to improve uptake. Currently about 30% of people who meet national guidelines undergo testing for BRCA. This proposal would use our PaGeMe rubric to develop patient generated messaging to help people speak to relatives about genetic testing and navigate them through the testing process.
ABOUT's patient-driven research process, known as "GAP360" takes unanswered medical questions submitted by the community and turns them into well-defined research questions that can be answered through ABOUT research. GAP stands for Generate, Assess, Prioritize, Plan, Perform, and Publish — the steps that are involved in this process.