Literature DB >> 20303416

Underdiagnosis of Lynch syndrome involves more than family history criteria.

Hardeep Singh1, Rachel Schiesser, Gobind Anand, Peter A Richardson, Hashem B El-Serag.   

Abstract

BACKGROUND & AIMS: Physicians' cancer-related family history assessment for Lynch syndrome is often inadequate. Furthermore, the extent to which clinicians recognize non-family history-related clues for Lynch syndrome is unclear. We reviewed an integrated electronic health record (EHR) to determine diagnostic evaluation for Lynch syndrome in patients diagnosed with colorectal cancer (CRC).
METHODS: We conducted a retrospective cohort study of consecutive patients with CRC, newly diagnosed at a tertiary care Veterans Affairs facility, between 1999 and 2007. A detailed review of the EHR was conducted to evaluate the presence of family history-related and non-family history-related criteria of the Bethesda guidelines. Patient outcomes (identification in clinical practice and referral for genetic testing) were also determined.
RESULTS: We identified a total of 499 patients (mean age, 65.4 years; 98.6% male; 51.1% non-Hispanic white). At least 1 of the Bethesda criteria was met for 57 patients (11.4%), none was met for 198 (39.7%), and there was uncertainty for 244 (48.9%) because of inadequate family history documentation and/or the patient was unsure about their family history. Forty-nine patients met criteria unrelated to family history. Only 4 of 57 patients (7%) who met the Bethesda guidelines had documentation of counseling. Among 244 patients with uncertainty, a suspicion for Lynch syndrome was documented in the EHR of 6 patients (2.5%); 3 received counseling.
CONCLUSIONS: Lynch syndrome is under-recognized, even when patients have clear criteria unrelated to family history. Multifaceted strategies focused on reducing providers' cognitive errors and harnessing EHR capabilities to improve recognition of Lynch syndrome are needed. Copyright 2010 AGA Institute. Published by Elsevier Inc. All rights reserved.

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Year:  2010        PMID: 20303416      PMCID: PMC2879470          DOI: 10.1016/j.cgh.2010.03.010

Source DB:  PubMed          Journal:  Clin Gastroenterol Hepatol        ISSN: 1542-3565            Impact factor:   11.382


  26 in total

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Authors:  Amit X Garg; Neill K J Adhikari; Heather McDonald; M Patricia Rosas-Arellano; P J Devereaux; Joseph Beyene; Justina Sam; R Brian Haynes
Journal:  JAMA       Date:  2005-03-09       Impact factor: 56.272

2.  Population-based molecular detection of hereditary nonpolyposis colorectal cancer.

Authors:  R Salovaara; A Loukola; P Kristo; H Kääriäinen; H Ahtola; M Eskelinen; N Härkönen; R Julkunen; E Kangas; S Ojala; J Tulikoura; E Valkamo; H Järvinen; J P Mecklin; L A Aaltonen; A de la Chapelle
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3.  A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines.

Authors:  M A Rodriguez-Bigas; C R Boland; S R Hamilton; D E Henson; J R Jass; P M Khan; H Lynch; M Perucho; T Smyrk; L Sobin; S Srivastava
Journal:  J Natl Cancer Inst       Date:  1997-12-03       Impact factor: 13.506

4.  Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versus population-based registry.

Authors:  Jonathan P Terdiman; Theodore R Levin; Brian A Allen; James R Gum; Andrea Fishbach; Peggy G Conrad; Glenn A Miller; Vivian Weinberg; Ronald Bachman; Joann Bergoffen; Ann Stembridge; Neil W Toribara; Marvin H Sleisenger; Young S Kim
Journal:  Gastroenterology       Date:  2002-04       Impact factor: 22.682

5.  Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing.

Authors:  J P Terdiman; J R Gum; P G Conrad; G A Miller; V Weinberg; S C Crawley; T R Levin; C Reeves; A Schmitt; M Hepburn; M H Sleisenger; Y S Kim
Journal:  Gastroenterology       Date:  2001-01       Impact factor: 22.682

6.  Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1.

Authors:  S Syngal; E A Fox; C Eng; R D Kolodner; J E Garber
Journal:  J Med Genet       Date:  2000-09       Impact factor: 6.318

7.  New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

Authors:  H F Vasen; P Watson; J P Mecklin; H T Lynch
Journal:  Gastroenterology       Date:  1999-06       Impact factor: 22.682

8.  Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Authors:  Heather Hampel; Wendy L Frankel; Edward Martin; Mark Arnold; Karamjit Khanduja; Philip Kuebler; Hidewaki Nakagawa; Kaisa Sotamaa; Thomas W Prior; Judith Westman; Jenny Panescu; Dan Fix; Janet Lockman; Ilene Comeras; Albert de la Chapelle
Journal:  N Engl J Med       Date:  2005-05-05       Impact factor: 91.245

9.  Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients.

Authors:  Shilpa Grover; Elena M Stoffel; Laoti Bussone; Elizabeth Tschoegl; Sapna Syngal
Journal:  Clin Gastroenterol Hepatol       Date:  2004-09       Impact factor: 11.382

10.  Are electronic health records ready for genomic medicine?

Authors:  Maren T Scheuner; Han de Vries; Benjamin Kim; Robin C Meili; Sarah H Olmstead; Stephanie Teleki
Journal:  Genet Med       Date:  2009-07       Impact factor: 8.822

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  25 in total

1.  What's the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals.

Authors:  Tracy A Bensend; Patricia McCarthy Veach; Kristin B Niendorf
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2.  Cost-effectiveness and diagnostic effectiveness analyses of multiple algorithms for the diagnosis of Lynch syndrome.

Authors:  Milena Gould-Suarez; Hashem B El-Serag; Benjamin Musher; Luis Miguel Franco; Guoqing J Chen
Journal:  Dig Dis Sci       Date:  2014-06-24       Impact factor: 3.199

3.  Barriers to and motivations for physician referral of patients to cancer genetics clinics.

Authors:  Carrie F Prochniak; Lisa J Martin; Erin M Miller; Sara C Knapke
Journal:  J Genet Couns       Date:  2011-08-13       Impact factor: 2.537

4.  Value of Genetic Testing for Hereditary Colorectal Cancer in a Probability-Based US Online Sample.

Authors:  Sara J Knight; Ateesha F Mohamed; Deborah A Marshall; Uri Ladabaum; Kathryn A Phillips; Judith M E Walsh
Journal:  Med Decis Making       Date:  2015-01-14       Impact factor: 2.583

5.  Modern day screening for Lynch syndrome in endometrial cancer: the KEM experience.

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6.  Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion.

Authors:  Henry T Lynch; Douglas L Riegert-Johnson; Carrie Snyder; Jane F Lynch; Jill Hagenkord; C Richard Boland; Jennifer Rhees; Stephen N Thibodeau; Lisa A Boardman; Janine Davies; Roland P Kuiper; Nicoline Hoogerbrugge; Marjolijn J L Ligtenberg
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7.  UK colorectal cancer patients are inadequately assessed for Lynch syndrome.

Authors:  Maria Adelson; Samuel Pannick; James E East; Peter Risby; Peter Dawson; Kevin J Monahan
Journal:  Frontline Gastroenterol       Date:  2013-08-06

8.  Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population.

Authors:  Tuan A Dinh; Benjamin I Rosner; James C Atwood; C Richard Boland; Sapna Syngal; Hans F A Vasen; Stephen B Gruber; Randall W Burt
Journal:  Cancer Prev Res (Phila)       Date:  2010-11-18

Review 9.  Lynch syndrome: the patients' perspective.

Authors:  Jurgen Seppen; Linda Bruzzone
Journal:  Fam Cancer       Date:  2013-06       Impact factor: 2.375

Review 10.  Incorporating Colorectal Cancer Genetic Risk Assessment into Gastroenterology Practice.

Authors:  Benjamin Stern; Thomas McGarrity; Maria Baker
Journal:  Curr Treat Options Gastroenterol       Date:  2019-12
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