Skip to main content
Top
Published in: Digestive Diseases and Sciences 11/2020

01-11-2020 | Colorectal Cancer | Original Article

Underutilization of Lynch Syndrome Screening at Two Large Veterans Affairs Medical Centers

Authors: Chetan Mittal, Duyen Dang, Elena Stoffel, Stacy Menees, Frank I. Scott, Dennis Ahnen, Swati G. Patel

Published in: Digestive Diseases and Sciences | Issue 11/2020

Login to get access

Abstract

Background

Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, yet is grossly under-recognized. Multiple professional societies recommend screening all CRCs for LS by performing tumor testing. The veterans affairs system has not adopted universal tumor testing as a national performance metric and leaves screening for LS to clinical care at individual sites.

Aims

Describe adherence to LS screening in the VA system.

Methods

Dual-center, retrospective review of all CRCs diagnosed between 2010 and 2016. Rates of tumor testing, personal and family history of cancer were extracted from the medical record. Univariate and multivariate regression analysis was performed to determine predictors of tumor-based screening for LS.

Results

A total of 421 cancers were reviewed. 15.1% of all cancers underwent either MSI and/or IHC for LS screening over the study period. There was improvement in LS screening from 3% of all CRCs in 2010 to 45% of all CRCs in 2016. 34% and 70% of patients did not have documentation of CRC in first- and second-degree relatives, respectively. Of the 73 patients who met one of the Revised Bethesda Criteria or had a PREMM1,2,6 score of ≥ 5, 34% and 56% underwent tumor testing, respectively. Younger age, non-Caucasian race, meeting Bethesda or PREMM1,2,6 criteria and right-sided tumor location were predictors of undergoing tumor testing.

Conclusions

CRC tumor screening for LS is grossly inadequate when left to routine clinical care. Our results lend support to implementation of reflexive universal tumor testing within the VA system.
Appendix
Available only for authorised users
Literature
1.
go back to reference Win AK, Jenkins MA, Dowty JG, et al. Prevalence and penetrance of major genes and polygenes for colorectal cancer. Cancer Epidemiol Biomarkers Prev. 2017;26:404–412.CrossRef Win AK, Jenkins MA, Dowty JG, et al. Prevalence and penetrance of major genes and polygenes for colorectal cancer. Cancer Epidemiol Biomarkers Prev. 2017;26:404–412.CrossRef
2.
go back to reference Lynch HT, Smyrk T, Lynch JF. Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch Syndrome). Int J Cancer. 1996;69:38–43.CrossRef Lynch HT, Smyrk T, Lynch JF. Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch Syndrome). Int J Cancer. 1996;69:38–43.CrossRef
3.
go back to reference Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the U.S. Multi-society task force on colorectal cancer. Gastrointest Endosc. 2014;80:197–220.CrossRef Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the U.S. Multi-society task force on colorectal cancer. Gastrointest Endosc. 2014;80:197–220.CrossRef
4.
go back to reference Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829–834.CrossRef Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829–834.CrossRef
5.
go back to reference Vasen HF, Abdirahman M, Brohet R, et al. One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology. 2010;138:2300–2306.CrossRef Vasen HF, Abdirahman M, Brohet R, et al. One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology. 2010;138:2300–2306.CrossRef
7.
go back to reference Renkonen-Sinisalo L, Butzow R, Leminen A, et al. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer. 2007;120:821–824.CrossRef Renkonen-Sinisalo L, Butzow R, Leminen A, et al. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer. 2007;120:821–824.CrossRef
8.
go back to reference Dove-Edwin I, Boks D, Goff S, et al. The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer. 2002;94:1708–1712.CrossRef Dove-Edwin I, Boks D, Goff S, et al. The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer. 2002;94:1708–1712.CrossRef
10.
go back to reference Hampel H, de la Chapelle A. The search for unaffected individuals with Lynch syndrome: do the ends justify the means? Cancer Prev Res (Phila). 2011;4:1–5.CrossRef Hampel H, de la Chapelle A. The search for unaffected individuals with Lynch syndrome: do the ends justify the means? Cancer Prev Res (Phila). 2011;4:1–5.CrossRef
11.
go back to reference Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261–268.CrossRef Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261–268.CrossRef
12.
go back to reference Umar A, Risinger JI, Hawk ET, et al. Testing guidelines for hereditary non-polyposis colorectal cancer. Nat Rev Cancer. 2004;4:153–158.CrossRef Umar A, Risinger JI, Hawk ET, et al. Testing guidelines for hereditary non-polyposis colorectal cancer. Nat Rev Cancer. 2004;4:153–158.CrossRef
13.
go back to reference Cross DS, Rahm AK, Kauffman TL, et al. Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer. Genet Med. 2013;15:933–940.CrossRef Cross DS, Rahm AK, Kauffman TL, et al. Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer. Genet Med. 2013;15:933–940.CrossRef
14.
go back to reference Karlitz JJ, Hsieh MC, Liu Y, et al. Population-based lynch syndrome screening by microsatellite instability in patients </=50: prevalence, testing determinants, and result availability prior to colon surgery. Am J Gastroenterol. 2015;110:948–955.CrossRef Karlitz JJ, Hsieh MC, Liu Y, et al. Population-based lynch syndrome screening by microsatellite instability in patients </=50: prevalence, testing determinants, and result availability prior to colon surgery. Am J Gastroenterol. 2015;110:948–955.CrossRef
15.
go back to reference Shaikh T, Handorf EA, Meyer JE, et al. Mismatch repair deficiency testing in patients with colorectal cancer and nonadherence to testing guidelines in young adults. JAMA Oncol. 2018;4:e173580.CrossRef Shaikh T, Handorf EA, Meyer JE, et al. Mismatch repair deficiency testing in patients with colorectal cancer and nonadherence to testing guidelines in young adults. JAMA Oncol. 2018;4:e173580.CrossRef
16.
go back to reference Evaluation of Genomic Applications in P, Prevention Working G. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 2009;11:35–41.CrossRef Evaluation of Genomic Applications in P, Prevention Working G. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 2009;11:35–41.CrossRef
17.
go back to reference Sepulveda AR, Hamilton SR, Allegra CJ, et al. Molecular biomarkers for the evaluation of colorectal cancer. Am J Clin Pathol. 2017;147:221–260.CrossRef Sepulveda AR, Hamilton SR, Allegra CJ, et al. Molecular biomarkers for the evaluation of colorectal cancer. Am J Clin Pathol. 2017;147:221–260.CrossRef
18.
go back to reference Beamer LC, Grant ML, Espenschied CR, et al. Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results. J Clin Oncol. 2012;30:1058–1063.CrossRef Beamer LC, Grant ML, Espenschied CR, et al. Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results. J Clin Oncol. 2012;30:1058–1063.CrossRef
19.
go back to reference Scheuner MT, Marshall N, Lanto A, et al. Delivery of clinical genetic consultative services in the Veterans Health Administration. Genet Med. 2014;16:609–619.CrossRef Scheuner MT, Marshall N, Lanto A, et al. Delivery of clinical genetic consultative services in the Veterans Health Administration. Genet Med. 2014;16:609–619.CrossRef
20.
go back to reference Hamilton AB, Oishi S, Yano EM, et al. Factors influencing organizational adoption and implementation of clinical genetic services. Genet Med. 2014;16:238–245.CrossRef Hamilton AB, Oishi S, Yano EM, et al. Factors influencing organizational adoption and implementation of clinical genetic services. Genet Med. 2014;16:238–245.CrossRef
21.
go back to reference Venne V, Meyer LJ. Genetics and the veterans health administration. Genet Med. 2014;16:573–575.CrossRef Venne V, Meyer LJ. Genetics and the veterans health administration. Genet Med. 2014;16:573–575.CrossRef
22.
go back to reference Edge SB, Compton CC. The American Joint Committee on Cancer: the 7th edition of the AJCC cancer staging manual and the future of TNM. Ann Surg Oncol. 2010;17:1471–1474.CrossRef Edge SB, Compton CC. The American Joint Committee on Cancer: the 7th edition of the AJCC cancer staging manual and the future of TNM. Ann Surg Oncol. 2010;17:1471–1474.CrossRef
23.
go back to reference Harris PA, Taylor R, Thielke R, et al. Research electronic data capture (REDCap)–a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42:377–381.CrossRef Harris PA, Taylor R, Thielke R, et al. Research electronic data capture (REDCap)–a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42:377–381.CrossRef
24.
go back to reference USPSTF. Screening for colorectal cancer: US Preventive Services Task Force recommendation statement. Ann Intern Med. 2008;149:627–637.CrossRef USPSTF. Screening for colorectal cancer: US Preventive Services Task Force recommendation statement. Ann Intern Med. 2008;149:627–637.CrossRef
25.
go back to reference Singh H, Schiesser R, Anand G, et al. Underdiagnosis of Lynch syndrome involves more than family history criteria. Clin Gastroenterol Hepatol. 2010;8:523–529.CrossRef Singh H, Schiesser R, Anand G, et al. Underdiagnosis of Lynch syndrome involves more than family history criteria. Clin Gastroenterol Hepatol. 2010;8:523–529.CrossRef
26.
go back to reference van Dijk DA, Oostindier MJ, Kloosterman-Boele WM, et al. Family history is neglected in the work-up of patients with colorectal cancer: a quality assessment using cancer registry data. Fam Cancer. 2007;6:131–134.CrossRef van Dijk DA, Oostindier MJ, Kloosterman-Boele WM, et al. Family history is neglected in the work-up of patients with colorectal cancer: a quality assessment using cancer registry data. Fam Cancer. 2007;6:131–134.CrossRef
27.
go back to reference Schroy PC 3rd, Barrison AF, Ling BS, et al. Family history and colorectal cancer screening: a survey of physician knowledge and practice patterns. Am J Gastroenterol. 2002;97:1031–1036.CrossRef Schroy PC 3rd, Barrison AF, Ling BS, et al. Family history and colorectal cancer screening: a survey of physician knowledge and practice patterns. Am J Gastroenterol. 2002;97:1031–1036.CrossRef
28.
go back to reference Patel SG, Ahnen DJ, Kinney AY, et al. Knowledge and uptake of genetic counseling and colonoscopic screening among individuals at increased risk for Lynch syndrome and their endoscopists from the family health promotion project. Am J Gastroenterol. 2016;111:285–293.CrossRef Patel SG, Ahnen DJ, Kinney AY, et al. Knowledge and uptake of genetic counseling and colonoscopic screening among individuals at increased risk for Lynch syndrome and their endoscopists from the family health promotion project. Am J Gastroenterol. 2016;111:285–293.CrossRef
29.
go back to reference Sperber NR, Andrews SM, Voils CI, et al. Barriers and facilitators to adoption of genomic services for colorectal care within the Veterans Health Administration. J Pers Med. 2016;6:16.CrossRef Sperber NR, Andrews SM, Voils CI, et al. Barriers and facilitators to adoption of genomic services for colorectal care within the Veterans Health Administration. J Pers Med. 2016;6:16.CrossRef
30.
go back to reference Yurgelun MB, Kulke MH, Fuchs CS, et al. Cancer susceptibility gene mutations in individuals with colorectal cancer. J Clin Oncol. 2017;35:1086–1095.CrossRef Yurgelun MB, Kulke MH, Fuchs CS, et al. Cancer susceptibility gene mutations in individuals with colorectal cancer. J Clin Oncol. 2017;35:1086–1095.CrossRef
Metadata
Title
Underutilization of Lynch Syndrome Screening at Two Large Veterans Affairs Medical Centers
Authors
Chetan Mittal
Duyen Dang
Elena Stoffel
Stacy Menees
Frank I. Scott
Dennis Ahnen
Swati G. Patel
Publication date
01-11-2020
Publisher
Springer US
Published in
Digestive Diseases and Sciences / Issue 11/2020
Print ISSN: 0163-2116
Electronic ISSN: 1573-2568
DOI
https://doi.org/10.1007/s10620-020-06340-0

Other articles of this Issue 11/2020

Digestive Diseases and Sciences 11/2020 Go to the issue
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.