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

• Published in: Scientific reports Vol. 10; no. 1; pp. 15959 - 10
• Main Authors: Hadley, Donald W., Eliezer, Dina, Addissie, Yonit, Goergen, Andrea, Ashida, Sato, Koehly, Laura
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 29.09.2020; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208/2489/1512; 631/208/68; 692/4020/1394; 692/699/1503/1581/1885/1393; 692/700/459/1748; Adult; Clinical trials; Colon cancer; Colonic Neoplasms - genetics; Colonoscopy; Colonoscopy - trends; Colorectal cancer; Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; Cross-Sectional Studies; Family; Female; Genetic disorders; Genetic Predisposition to Disease - genetics; Genetic screening; Genetic Testing - trends; Health care; Health Knowledge, Attitudes, Practice; Heterozygote; Humanities and Social Sciences; Humans; Male; Middle Aged; multidisciplinary; Mutation - genetics; NCT; NCT00004210; Risk Factors; Science; Science (multidisciplinary); United States; United States
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-020-72938-z

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.