lunes, 24 de septiembre de 2012

Improving mutation notification when new genetic i... [Genet Med. 2012] - PubMed - NCBI

Improving mutation notification when new genetic i... [Genet Med. 2012] - PubMed - NCBI

Genet Med. 2012 Sep 13. doi: 10.1038/gim.2012.115. [Epub ahead of print]

Improving mutation notification when new genetic information is identified in research: a trial of two strategies in familial breast cancer.


1] School of Women's and Children's Health, University of New South Wales, Sydney, Australia [2] Centre for Children's Cancer and Blood Disorders, Sydney Children's Hospital, Randwick, Australia.


Purpose:The Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab) is a large-scale research study that notifies participants when new, personally relevant, information is discovered. In 2009, the (kConFab) instituted an intensive notification process to ensure at-risk individuals were effectively notified. This study (i) evaluated the impact of intensive notification on genetic testing uptake; (ii) identified those most likely to undergo testing postnotification; and (iii) identified those most likely to acknowledge that they had been notified.Methods:Clinical/demographic data were retrieved from the (kConFab) database. Logistic regression analyses were conducted to identify potential predictors of testing uptake and notification acknowledgment using IBM SPSS.Results:A total of 155 of 1,812 individuals underwent testing after standard notification (8.6%). In comparison, 23/291 individuals (7.9%) notified using the "intensive" approach underwent testing (χ(2) = 0.14; P = 0.71). After controlling for notification process, females and participants with a previous cancer were most likely to have undergone testing (P < 0.006). Older individuals (50+ years) were most likely to acknowledge they had been notified (P = 0.038).Conclusion:Increasing the intensity of participant follow-up did not increase genetic testing uptake. The challenge to effectively notify participants, and increase the proportion whose risk is managed clinically, remains, particularly for males and individuals unaffected by cancer.Genet Med advance online publication 13 September 2012Genetics in Medicine (2012); doi:10.1038/gim.2012.115.
[PubMed - as supplied by publisher]

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