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Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome
Journal article   Open access   Peer reviewed

Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome

Donald W Hadley, Dina Eliezer, Yonit Addissie, Andrea Goergen, Sato Ashida and Laura Koehly
Scientific reports, Vol.10(1), pp.15959-15959
09/29/2020
DOI: 10.1038/s41598-020-72938-z
PMCID: PMC7525436
PMID: 32994442
url
https://doi.org/10.1038/s41598-020-72938-zView
Published (Version of record) Open Access

Abstract

Cascade genetic testing provides a method to appropriately focus colonoscopy use in families with Lynch syndrome (LS). However, research suggests that up to two-thirds at risk to inherit LS don't participate. Within the United States, no studies have assessed colonoscopy use within this elusive and high-risk subset. We set forth to (1) document colonoscopy use within those not undergoing genetic testing (NGT) and (2) identify factors associated with completing colonoscopy. Data came from a cross sectional survey of families with molecularly confirmed LS. One hundred seventy-six (176) adults participated; 47 of unknown variant status and 129 with variant status known (59 carriers/70 non-carriers). Despite a high level of awareness of LS (85%) and identical recommendations for colonoscopy, NGT reported significantly lower use of colonoscopy than carriers (47% vs. 73%; p = 0.003). Our results show that perceived risk to develop colon cancer (AOR = 1.99, p < 0.05) and physician recommendations (AOR = 7.64, p < 0.01) are significant predictors of colonoscopy use across all family members controlling for carrier status. Given these findings, health care providers, should assess patients' perceived risk to develop cancer, assist them in adjusting risk perceptions and discuss recommendations for colonoscopy with all members in families with LS.Trial Registration Clinical Trials.gov Identifier: NCT00004210.
Adult Colonic Neoplasms - genetics Colonoscopy - trends Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis Colorectal Neoplasms, Hereditary Nonpolyposis - genetics Cross-Sectional Studies Family Female Genetic Predisposition to Disease - genetics Genetic Testing - trends Health Knowledge, Attitudes, Practice Heterozygote Humans Male Middle Aged Mutation - genetics Risk Factors United States

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