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- W2595495622 abstract "1573 Background: A mismatch repair (MMR) pathogenic mutation in an index patient provides a basis for predictive mutation testing in at-risk members of Lynch syndrome (LS) families. Mutation carriers warrant aggressive surveillance. As importantly, non-carriers can safely follow general population screening guidelines. However, penetration of predictive testing has been disappointing in first-degree relatives (FDR), and has been even more limited in second- and more distant-degree relatives, even though the benefits can be as great as in FDRs. Family Information Services (FISs), involve an in-person session in which expert providers and counselors meet with multiple family members in a convenient geographical location. Education and counseling are intended to lead to testing for the family MMR mutation, followed by appropriate surveillance. Methods: LS families with a known MMR mutation (n=97) were targeted for this study. Selection for FIS was based on family size and convenient geographic location. Twenty-eight were offered an FIS and 69 received standard care (mailed educational material and invitation for testing). Data were collected on testing rates. Results: In at-risk patients that did receive FIS, 20.4% (std dev = 11.4%, 95% CI: 16.0 to 24.8%, range: 3 to 57.5%) were DNA tested, whereas in families that did not receive FIS, 12.9% (std dev = 10.8%, 95% CI: 10.2 to 15.5%, range: 0 to 43.5%) were DNA tested. The difference in proportions tested between the FIS and non-FIS families was statistically significant (p=0.003) and was more pronounced in family members whose relationship to the proband was beyond first-degree (p<0.0001). Of those individuals that attended an FIS, 81.1% were tested. Conclusions: Genetic counseling in the FIS setting facilitates uptake of predictive mutational testing in FDRs and in more distant at-risk relatives. However, the FIS is time-consuming and labor intensive; more efficient means of disseminating LS risk information and the benefits of predictive testing in more distant relatives are needed. A cost-effectiveness analysis as well as a randomized study that controls for participation bias must be done." @default.
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- W2595495622 date "2013-05-20" @default.
- W2595495622 modified "2023-09-23" @default.
- W2595495622 title "The impact of family information services on genetic testing uptake among relatives in Lynch syndrome families." @default.
- W2595495622 doi "https://doi.org/10.1200/jco.2013.31.15_suppl.1573" @default.
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