Skip to main content
Erschienen in: Annals of Surgical Oncology 2/2019

01.10.2018 | Colorectal Cancer

Learning by Example: An International Perspective on Reflex-Testing for Lynch Syndrome

verfasst von: Vanessa N. Palter, MD, PhD, Natalie A. Baker, MSc, Aaron Pollett, MD, MSc, Corinne Daly, MSc, Marcia Facey, BSc, Carolyn Rotenberg, MSc, Linda Rabeneck, MD, MPH, Nancy N. Baxter, MD, PhD

Erschienen in: Annals of Surgical Oncology | Ausgabe 2/2019

Einloggen, um Zugang zu erhalten

Abstract

Background

Lynch syndrome (LS), an autosomal dominant cancer syndrome, is the most common cause of hereditary colon cancer. Currently, however, less than 5% of patients with LS have been identified. Reflex-testing programs (in which tumors of patients with colorectal cancer are routinely evaluated for LS) have been proposed for better identification of affected individuals, yet the uptake of these programs within health care systems is limited. This study explored the structure, implementation challenges, and future directions of existing international population-based reflex LS testing programs.

Methods

The study identified existing reflex-testing LS programs through the current literature and through a qualitative sampling approach. Key informants from each program were interviewed. Qualitative data were analyzed using a grounded theory analytic technique approach.

Results

The interviews were completed by 26 informants across seven identified programs. Three key themes were identified: (1) tension between a program imposed on stakeholders (a top-down approach) versus initiation of the program at the stakeholder level (bottom-up approach), (2) identification of pathologists as drivers of program success, and (3) strategies to optimize possible LS patients liaising with genetic counselors. Barriers to successful implementation included lack of stakeholder engagement and concerns regarding cost. Facilitators included strong administration to coordinate patient tracking and flexibility during the implementation process.

Conclusions

Existing reflex-testing LS programs have varying structures, standards, and protocols. Program design can have a direct effect on the uptake of genetic testing. These are important considerations in the large-scale planning of LS reflex-testing programs within health systems.
Anhänge
Nur mit Berechtigung zugänglich
Literatur
1.
Zurück zum Zitat Matloff J, Lucas A, Polydorides AD, Itzkowitz SH. Molecular tumor testing for Lynch syndrome in patients with colorectal cancer. J Natl Compr Canc Netw. 2013;11:1380–5.CrossRefPubMed Matloff J, Lucas A, Polydorides AD, Itzkowitz SH. Molecular tumor testing for Lynch syndrome in patients with colorectal cancer. J Natl Compr Canc Netw. 2013;11:1380–5.CrossRefPubMed
2.
Zurück zum Zitat Mueller J, Gazzoli I, Bandipalliam P, Garber JE, Syngal S, Kolodner RD. Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. Cancer Res. 2009;69:7053–61.CrossRefPubMedPubMedCentral Mueller J, Gazzoli I, Bandipalliam P, Garber JE, Syngal S, Kolodner RD. Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. Cancer Res. 2009;69:7053–61.CrossRefPubMedPubMedCentral
3.
Zurück zum Zitat Watson P, Vasen HFA, Mecklin J-P, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer. 2008;123:444–9.CrossRefPubMedPubMedCentral Watson P, Vasen HFA, Mecklin J-P, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer. 2008;123:444–9.CrossRefPubMedPubMedCentral
4.
Zurück zum Zitat Bonadona V, Bonaïti B, Olschwang S, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011;305:2304–10.CrossRefPubMed Bonadona V, Bonaïti B, Olschwang S, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011;305:2304–10.CrossRefPubMed
5.
Zurück zum Zitat Coates R, Williams M, Melillo S, Gudgeon J. Genetic testing for Lynch syndrome in individuals newly diagnosed with colorectal cancer to reduce morbidity and mortality from colorectal cancer in their relatives. PLoS Curr. 2011;3:RRN1246.CrossRefPubMedPubMedCentral Coates R, Williams M, Melillo S, Gudgeon J. Genetic testing for Lynch syndrome in individuals newly diagnosed with colorectal cancer to reduce morbidity and mortality from colorectal cancer in their relatives. PLoS Curr. 2011;3:RRN1246.CrossRefPubMedPubMedCentral
6.
Zurück zum Zitat Barrow P, Khan M, Lalloo F, Evans DG, Hill J. Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome. Br J Surg. 2013;100:1719–31.CrossRefPubMed Barrow P, Khan M, Lalloo F, Evans DG, Hill J. Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome. Br J Surg. 2013;100:1719–31.CrossRefPubMed
7.
Zurück zum Zitat Schmeler KM, Lynch HT, Chen L-M, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006;354:261–9.CrossRefPubMed Schmeler KM, Lynch HT, Chen L-M, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006;354:261–9.CrossRefPubMed
8.
Zurück zum Zitat McLosky J, Anderson B, Duquette D, Fussman C. Colorectal cancer and genetic testing among Michigan adults. Mich. BRFSS Surveill. Brief. 2012;6(3):1–2. McLosky J, Anderson B, Duquette D, Fussman C. Colorectal cancer and genetic testing among Michigan adults. Mich. BRFSS Surveill. Brief. 2012;6(3):1–2.
9.
Zurück zum Zitat Morrison J, Bronner M, Leach BH, Downs-Kelly E, Goldblum JR, Liu X. Lynch syndrome screening in newly diagnosed colorectal cancer in general pathology practice: from the revised Bethesda guidelines to a universal approach. Scand J Gastroenterol. 2011;46:1340–8.CrossRefPubMed Morrison J, Bronner M, Leach BH, Downs-Kelly E, Goldblum JR, Liu X. Lynch syndrome screening in newly diagnosed colorectal cancer in general pathology practice: from the revised Bethesda guidelines to a universal approach. Scand J Gastroenterol. 2011;46:1340–8.CrossRefPubMed
10.
Zurück zum Zitat Balmaña J, Balaguer F, Cervantes A, Arnold D, ESMO Guidelines Working Group. Familial risk-colorectal cancer: ESMO clinical practice guidelines. Ann Oncol. 2013;24(Suppl 6):73–80.CrossRef Balmaña J, Balaguer F, Cervantes A, Arnold D, ESMO Guidelines Working Group. Familial risk-colorectal cancer: ESMO clinical practice guidelines. Ann Oncol. 2013;24(Suppl 6):73–80.CrossRef
11.
Zurück zum Zitat Provenzale D, Gupta S, Ahnen DJ, et al. Genetic/familial high-risk assessment: colorectal version 1.2016, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw. 2016;14:1010–30.CrossRefPubMed Provenzale D, Gupta S, Ahnen DJ, et al. Genetic/familial high-risk assessment: colorectal version 1.2016, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw. 2016;14:1010–30.CrossRefPubMed
12.
Zurück zum Zitat Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. 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 Practice and Prevention (EGAPP) Working Group. 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
13.
Zurück zum Zitat Rubenstein JH, Enns R, Heidelbaugh J, Barkun A, Clinical Guidelines Committee. American Gastroenterological Association Institute Guideline on the Diagnosis and Management of Lynch Syndrome. Gastroenterology. 2015;149:777–82 (Quiz 16–7).CrossRefPubMed Rubenstein JH, Enns R, Heidelbaugh J, Barkun A, Clinical Guidelines Committee. American Gastroenterological Association Institute Guideline on the Diagnosis and Management of Lynch Syndrome. Gastroenterology. 2015;149:777–82 (Quiz 16–7).CrossRefPubMed
14.
Zurück zum Zitat 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;30:1058–63.CrossRefPubMedPubMedCentral 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;30:1058–63.CrossRefPubMedPubMedCentral
15.
Zurück zum Zitat Vasen HFA, Blanco I, Aktan-Collan K, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013;62:812–23.CrossRefPubMedPubMedCentral Vasen HFA, Blanco I, Aktan-Collan K, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013;62:812–23.CrossRefPubMedPubMedCentral
16.
Zurück zum Zitat Bombard Y, Rozmovits L, Sorvari A, et al. Universal tumor screening for Lynch syndrome: health-care providers’ perspectives. Genet Med. 2016;11:1380. Bombard Y, Rozmovits L, Sorvari A, et al. Universal tumor screening for Lynch syndrome: health-care providers’ perspectives. Genet Med. 2016;11:1380.
17.
Zurück zum Zitat Cohen SA. Current Lynch syndrome tumor screening practices: a survey of genetic counselors. J Genet Couns. 2014;23:38–47.CrossRefPubMed Cohen SA. Current Lynch syndrome tumor screening practices: a survey of genetic counselors. J Genet Couns. 2014;23:38–47.CrossRefPubMed
18.
Zurück zum Zitat Bellcross CA, Bedrosian SR, Daniels E, et al. Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting. Genet Med. 2012;14:152–62.CrossRefPubMed Bellcross CA, Bedrosian SR, Daniels E, et al. Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting. Genet Med. 2012;14:152–62.CrossRefPubMed
19.
Zurück zum Zitat Schneider JL, Davis J, Kauffman TL, et al. Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators. Genet Med. 2016;18:152–61.CrossRefPubMed Schneider JL, Davis J, Kauffman TL, et al. Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators. Genet Med. 2016;18:152–61.CrossRefPubMed
20.
Zurück zum Zitat Hill AL, Sumra KK, Russell MM, et al. A single-institution experience in compliance with universal screening for Lynch syndrome in colorectal cancer. J Gastrointest Surg. 2015;19:543–50.CrossRefPubMed Hill AL, Sumra KK, Russell MM, et al. A single-institution experience in compliance with universal screening for Lynch syndrome in colorectal cancer. J Gastrointest Surg. 2015;19:543–50.CrossRefPubMed
21.
Zurück zum Zitat Cragun D, DeBate RD, Vadaparampil ST, Baldwin J, Hampel H, Pal T. Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through. Genet Med. 2014;16:773–82.CrossRefPubMedPubMedCentral Cragun D, DeBate RD, Vadaparampil ST, Baldwin J, Hampel H, Pal T. Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through. Genet Med. 2014;16:773–82.CrossRefPubMedPubMedCentral
22.
Zurück zum Zitat Patton M. Qualitative evaluation and research methods. 2nd ed. Newbury Park: Sage; 1990. Patton M. Qualitative evaluation and research methods. 2nd ed. Newbury Park: Sage; 1990.
23.
Zurück zum Zitat Palinkas LA, Horwitz SM, Green CA, Wisdom JP, Duan N, Hoagwood K. Purposeful sampling for qualitative data collection and analysis in mixed-method implementation research. Adm Policy Ment Health. 2015;42:533–44.CrossRefPubMedPubMedCentral Palinkas LA, Horwitz SM, Green CA, Wisdom JP, Duan N, Hoagwood K. Purposeful sampling for qualitative data collection and analysis in mixed-method implementation research. Adm Policy Ment Health. 2015;42:533–44.CrossRefPubMedPubMedCentral
24.
Zurück zum Zitat Kuzel AJ. Sampling in qualitative inquiry. In: Crabtree BF, Miller WL, editors. Doing qualitative research. Thousand Oaks, CA: Sage; 1999. Kuzel AJ. Sampling in qualitative inquiry. In: Crabtree BF, Miller WL, editors. Doing qualitative research. Thousand Oaks, CA: Sage; 1999.
25.
Zurück zum Zitat Morse JM, Barrett M, Mayan M, Olson K, Spiers J. Verification strategies for establishing reliability and validity in qualitative research. Int J Qual Methods. 2002;1:13–22.CrossRef Morse JM, Barrett M, Mayan M, Olson K, Spiers J. Verification strategies for establishing reliability and validity in qualitative research. Int J Qual Methods. 2002;1:13–22.CrossRef
26.
Zurück zum Zitat Charmaz K. Qualitiative interviewing and grounded theory analysis. In: Holstein JA, Gubrium JF, editors. Inside interviewing new lenses, new concerns. Thousand Oaks, CA: SAGE Publications; 2001. Charmaz K. Qualitiative interviewing and grounded theory analysis. In: Holstein JA, Gubrium JF, editors. Inside interviewing new lenses, new concerns. Thousand Oaks, CA: SAGE Publications; 2001.
27.
Zurück zum Zitat Corbin J, Strauss A. Basics of qualitative research: techniques and procedures for developing grounded theory. Thousand Oaks, CA: SAGE Publications; 2008.CrossRef Corbin J, Strauss A. Basics of qualitative research: techniques and procedures for developing grounded theory. Thousand Oaks, CA: SAGE Publications; 2008.CrossRef
28.
Zurück zum Zitat Kvale S, Brinkman S. Interviews: learning the craft of qualitative interviewing. 2nd ed. Thousand Oaks, CA: SAGE Publications; 2009. Kvale S, Brinkman S. Interviews: learning the craft of qualitative interviewing. 2nd ed. Thousand Oaks, CA: SAGE Publications; 2009.
29.
Zurück zum Zitat Richards L, Morse JM. Readme first for a user’s guide to qualitative methods. 3rd ed. Thousand Oaks, CA: SAGE Publications; 2012. Richards L, Morse JM. Readme first for a user’s guide to qualitative methods. 3rd ed. Thousand Oaks, CA: SAGE Publications; 2012.
30.
Zurück zum Zitat Ward RL, Hicks S, Hawkins NJ. Population-based molecular screening for Lynch syndrome: implications for personalized medicine. J Clin Oncol. 2013;31:2554–62.CrossRefPubMed Ward RL, Hicks S, Hawkins NJ. Population-based molecular screening for Lynch syndrome: implications for personalized medicine. J Clin Oncol. 2013;31:2554–62.CrossRefPubMed
31.
Zurück zum Zitat Tan YY, Spurdle AB, Obermair A. Knowledge, attitudes, and referral patterns of Lynch syndrome: a survey of clinicians in Australia. J Pers Med. 2014;4:218–44.CrossRefPubMedPubMedCentral Tan YY, Spurdle AB, Obermair A. Knowledge, attitudes, and referral patterns of Lynch syndrome: a survey of clinicians in Australia. J Pers Med. 2014;4:218–44.CrossRefPubMedPubMedCentral
32.
Zurück zum Zitat Heald B, Plesec T, Liu X, et al. Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing Lynch syndrome in a large academic medical center. J Clin Oncol. 2013;31:1336–40.CrossRefPubMedPubMedCentral Heald B, Plesec T, Liu X, et al. Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing Lynch syndrome in a large academic medical center. J Clin Oncol. 2013;31:1336–40.CrossRefPubMedPubMedCentral
33.
Zurück zum Zitat Backes FJ, Mitchell E, Hampel H, et al. Endometrial cancer patients and compliance with genetic counselling: room for improvement. Gynecol Oncol. 2011;123:532–6.CrossRefPubMed Backes FJ, Mitchell E, Hampel H, et al. Endometrial cancer patients and compliance with genetic counselling: room for improvement. Gynecol Oncol. 2011;123:532–6.CrossRefPubMed
34.
Zurück zum Zitat Snowsill T, Huxley N, Hoyle M, et al. A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients. BMC Cancer. 2015;15:313.CrossRefPubMedPubMedCentral Snowsill T, Huxley N, Hoyle M, et al. A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients. BMC Cancer. 2015;15:313.CrossRefPubMedPubMedCentral
35.
Zurück zum Zitat Mvundura M, Grosse SD, Hampel H, Palomaki GE. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med. 2010;12:93–104.CrossRefPubMed Mvundura M, Grosse SD, Hampel H, Palomaki GE. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med. 2010;12:93–104.CrossRefPubMed
36.
Zurück zum Zitat Ladabaum U, Wang G, Terdiman J, et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis. Ann Intern Med. 2011;155:69–79.CrossRefPubMedPubMedCentral Ladabaum U, Wang G, Terdiman J, et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis. Ann Intern Med. 2011;155:69–79.CrossRefPubMedPubMedCentral
Metadaten
Titel
Learning by Example: An International Perspective on Reflex-Testing for Lynch Syndrome
verfasst von
Vanessa N. Palter, MD, PhD
Natalie A. Baker, MSc
Aaron Pollett, MD, MSc
Corinne Daly, MSc
Marcia Facey, BSc
Carolyn Rotenberg, MSc
Linda Rabeneck, MD, MPH
Nancy N. Baxter, MD, PhD
Publikationsdatum
01.10.2018
Verlag
Springer International Publishing
Erschienen in
Annals of Surgical Oncology / Ausgabe 2/2019
Print ISSN: 1068-9265
Elektronische ISSN: 1534-4681
DOI
https://doi.org/10.1245/s10434-018-6809-7

Weitere Artikel der Ausgabe 2/2019

Annals of Surgical Oncology 2/2019 Zur Ausgabe

Wie erfolgreich ist eine Re-Ablation nach Rezidiv?

23.04.2024 Ablationstherapie Nachrichten

Nach der Katheterablation von Vorhofflimmern kommt es bei etwa einem Drittel der Patienten zu Rezidiven, meist binnen eines Jahres. Wie sich spätere Rückfälle auf die Erfolgschancen einer erneuten Ablation auswirken, haben Schweizer Kardiologen erforscht.

Hinter dieser Appendizitis steckte ein Erreger

23.04.2024 Appendizitis Nachrichten

Schmerzen im Unterbauch, aber sonst nicht viel, was auf eine Appendizitis hindeutete: Ein junger Mann hatte Glück, dass trotzdem eine Laparoskopie mit Appendektomie durchgeführt und der Wurmfortsatz histologisch untersucht wurde.

Mehr Schaden als Nutzen durch präoperatives Aussetzen von GLP-1-Agonisten?

23.04.2024 Operationsvorbereitung Nachrichten

Derzeit wird empfohlen, eine Therapie mit GLP-1-Rezeptoragonisten präoperativ zu unterbrechen. Eine neue Studie nährt jedoch Zweifel an der Notwendigkeit der Maßnahme.

Ureterstriktur: Innovative OP-Technik bewährt sich

19.04.2024 EAU 2024 Kongressbericht

Die Ureterstriktur ist eine relativ seltene Komplikation, trotzdem bedarf sie einer differenzierten Versorgung. In komplexen Fällen wird dies durch die roboterassistierte OP-Technik gewährleistet. Erste Resultate ermutigen.

Update Chirurgie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

S3-Leitlinie „Diagnostik und Therapie des Karpaltunnelsyndroms“

Karpaltunnelsyndrom BDC Leitlinien Webinare
CME: 2 Punkte

Das Karpaltunnelsyndrom ist die häufigste Kompressionsneuropathie peripherer Nerven. Obwohl die Anamnese mit dem nächtlichen Einschlafen der Hand (Brachialgia parästhetica nocturna) sehr typisch ist, ist eine klinisch-neurologische Untersuchung und Elektroneurografie in manchen Fällen auch eine Neurosonografie erforderlich. Im Anfangsstadium sind konservative Maßnahmen (Handgelenksschiene, Ergotherapie) empfehlenswert. Bei nicht Ansprechen der konservativen Therapie oder Auftreten von neurologischen Ausfällen ist eine Dekompression des N. medianus am Karpaltunnel indiziert.

Prof. Dr. med. Gregor Antoniadis
Berufsverband der Deutschen Chirurgie e.V.

S2e-Leitlinie „Distale Radiusfraktur“

Radiusfraktur BDC Leitlinien Webinare
CME: 2 Punkte

Das Webinar beschäftigt sich mit Fragen und Antworten zu Diagnostik und Klassifikation sowie Möglichkeiten des Ausschlusses von Zusatzverletzungen. Die Referenten erläutern, welche Frakturen konservativ behandelt werden können und wie. Das Webinar beantwortet die Frage nach aktuellen operativen Therapiekonzepten: Welcher Zugang, welches Osteosynthesematerial? Auf was muss bei der Nachbehandlung der distalen Radiusfraktur geachtet werden?

PD Dr. med. Oliver Pieske
Dr. med. Benjamin Meyknecht
Berufsverband der Deutschen Chirurgie e.V.

S1-Leitlinie „Empfehlungen zur Therapie der akuten Appendizitis bei Erwachsenen“

Appendizitis BDC Leitlinien Webinare
CME: 2 Punkte

Inhalte des Webinars zur S1-Leitlinie „Empfehlungen zur Therapie der akuten Appendizitis bei Erwachsenen“ sind die Darstellung des Projektes und des Erstellungswegs zur S1-Leitlinie, die Erläuterung der klinischen Relevanz der Klassifikation EAES 2015, die wissenschaftliche Begründung der wichtigsten Empfehlungen und die Darstellung stadiengerechter Therapieoptionen.

Dr. med. Mihailo Andric
Berufsverband der Deutschen Chirurgie e.V.