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Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics

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Abstract

Introduction

This nationwide study assessed the impact of Lynch syndrome-related risk management guidelines on clinicians’ recommendations of risk management strategies to carriers of pathogenic variants in mismatch repair genes and the extent to which carriers took up strategies in concordance with guidelines.

Materials and methods

Clinic files of 464 carriers (with and without colorectal cancer) were audited for carriers who received their genetic testing results in July 2008–July 2009 (i.e. before guideline release), July 2010–July 2011 and July 2012–July 2013 (both after guideline release) at 12 familial cancer clinics (FCCs) to ascertain the extent to which carriers were informed about risk management in accordance with guidelines. All carriers captured by the audit were invited to participate in interviews; 215 were interviewed to assess adherence to recommended risk management guidelines.

Results

The rates of documentation in clinic files increased significantly from pre- to post-guideline for only two out of eight risk management strategies. The strategies with the highest compliance of carriers post-guidelines were: uptake of one or two-yearly colonoscopy (87%), followed by hysterectomy to prevent endometrial cancer (68%), aspirin as risk-reducing medication (67%) and risk-reducing salpingo-oophorectomy (63%). Interrater reliability check for all guidelines showed excellent agreement (k statistics = 0.89).

Conclusion

These results indicate that there is scope to further increase provision of advice at FCCs to ensure that all carriers receive recommendations about evidence-based risk management. A multi-pronged behaviour change and implementation science approach tailored to specific barriers is likely to be needed to achieve optimal clinician behaviours and outcomes for carriers.

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References

  1. Rubenstein J, Enns R, Heidelbaugh J, Barkun A, Committee CG (2015) American Gastroenterological Association Institute guideline on the diagnosis and management of lynch syndrome. Gastroenterology 149:777–782

    Article  Google Scholar 

  2. Monahan K, Bradshaw N, Dolwani S, et al. (Early view) Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut

  3. van Leerdam M, Roos V, van Hooft J et al (2019) Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) guideline. Endoscopy 51:1082–1093

    Article  Google Scholar 

  4. Møller P (2020) The prospective lynch syndrome database reports enable evidence-based personal precision health care. Hered Cancer Clin Pract 18:6

    Article  Google Scholar 

  5. Bonadona V, Bonaiti B, Olschwang S et al (2011) Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in lynch syndrome. JAMA 305(22):2304–2310

    Article  CAS  Google Scholar 

  6. Møller P, Seppälä T, Bernstein I et al (2017) Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut 66:464–472

    Article  Google Scholar 

  7. Snowsill T, Coelho H, Huxley N et al (2017) Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation. Health Technol Assess 21:51

    Article  Google Scholar 

  8. Jarvinen H, Aarnio M, Mustonen H (2000) Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118:829–834

    Article  CAS  Google Scholar 

  9. Burn J, Gerdes A, Macrae F et al (2011) Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 378(9809):2081–2087

    Article  Google Scholar 

  10. Giardiello F, Allen J, Axilbund J et al (2014) Guidelines on genetic evaluation and management of lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol 109(8):1159–1179

    Article  Google Scholar 

  11. Schmeler K, Lynch H, Chen L et al (2006) Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 354:261–269

    Article  CAS  Google Scholar 

  12. Crosbie E, Ryan N, Arends M et al (2019) The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome. Genet Med 21:2390–2400

    Article  Google Scholar 

  13. Cancer Institute of New South Wales www.eviq.org.au. vol 4/12/2019

  14. Hains I, Ward R, Pearson S (2012) Implementing a web-based oncology protocol system in Australia: evaluation of the first 3 years of operation. Int Med J 42:57–64

    Article  CAS  Google Scholar 

  15. Douma K, Bleeker F, Medendorp N, Croes E, Smets E (2019) Information exchange between patients with Lynch syndrome and their genetic and non-genetic health professionals: whose responsibility? J Commun Genet 10:237–247

    Article  Google Scholar 

  16. Francke A, Smit M, de Veer A, Mistiaen P (2008) Factors influencing the implementation of clinical guidelines for health care professionals: a systematic meta-review. BMC Med Inf Decis Mak 8:38

    Article  Google Scholar 

  17. Grimshaw J, Campbell M, Ecclesa M, Steena N (2000) Experimental and quasi-experimental designs for evaluating guideline implementation strategies. Fam Pract 17(Suppl. 1):S11–S18

    Article  Google Scholar 

  18. Cancer Institute New South Wales Risk management for Lynch syndrome. vol 5/7/2019. Sydney

  19. Charles C, Gafni A, Whelan T (1999) Decision-making in the physician-patient encounter: revisiting the shared treatment decision-making model. Soc Sci Med 49(5):651–661

    Article  CAS  Google Scholar 

  20. Wagner A, van Kessel KM et al (2005) Long term follow-up of HNPCC gene mutation carriers: compliance with screening and satisfaction with counseling and screening procedures. Fam Cancer 4(4):295–300

    Article  Google Scholar 

  21. Stoffel E, Mercado R, Kohlmann W, Ford B, Grover S, Conrad P (2010) Prevalence and predictors of appropriate colorectal cancer surveillance in lynch syndrome. Am J Gastroenterol 105(8):1851–1860

    Article  Google Scholar 

  22. Burton-Chase A, Hovick S, Peterson S, Marani S, Vernon W (2013) Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families. Clin Genet 83(3):215–220

    Article  CAS  Google Scholar 

  23. Ponz de Leon M, Benatti P, di Gregorio C et al (2004) Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorecatal cancer. Psycho-Oncol 90:882–887

    CAS  Google Scholar 

  24. Halbert CH, Lynch H, Lynch J et al (2004) Colon cancer screening practices following genetic testing for hereditary nonpolyposis colon cancer (HNPCC) mutations. Arch Intern Med 164(17):1881–1887

    Article  Google Scholar 

  25. Hadley D, Jenkins J, Dimond E, de Carvalho M, Kirsch I, Palmer C (2004) Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer. J Clin Oncol 22(1):39–43

    Article  Google Scholar 

  26. Newton K, Green K, Lalloo F, Evans D, Hill J (2015) Colonoscopy screening compliance and outcomes in patients with Lynch syndrome. Colorectal Dis 17(1):38–46

    Article  CAS  Google Scholar 

  27. Yurgelun MB, Mercado R, Rosenblatt M et al (2012) Impact of genetic testing on endometrial cancer risk-reducing practices in women at risk for Lynch syndrome. Gynecol Oncol 127(3):544–551

    Article  Google Scholar 

  28. Jarvinen H, Renkonen-Sinisalo L, Aktan-Collan K, Peltomaki P, Aaltonen L, Mecklin J (2009) Ten years after mutation testing for lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol 27(28):4793–4797

    Article  Google Scholar 

  29. Hadley D, Jenkins J, Steinberg S et al (2008) Perceptions of cancer risks and predictors of colon and endometrial cancer screening in women undergoing genetic testing for lynch syndrome. J Clin Oncol 26(6):948–954

    Article  Google Scholar 

  30. Collins VR, Meiser B, Halliday JL, Gaff C, St John DJ (2005) Screening and preventive behaviour one year following predictive genetic testing for hereditary non-polyposis colorectal cancer. Cancer 104(2):273–278

    Article  Google Scholar 

  31. Collins VR, Meiser B, Ukoumunne OC, Gaff C, St John DJ, Halliday JL (2007) The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing. Genet Med 9(5):290–297

    Article  Google Scholar 

  32. Auranen A, Joutsiniemi T (2011) A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families. Acta Obstet 90:437–444

    Article  Google Scholar 

  33. Meiser B, Wong T, Peate M, Julian-Reynier C, Kirk J, Mitchell G (2017) Use of tamoxifen as risk-reducing medication in women at increased risk for breast cancer: a systematic review of the literature. Hered Cancer Clin Pract 2017(15):14

    Article  Google Scholar 

  34. Grol R, Grimshaw J (2003) From best evidence to best practice: effective implementation of change in patients' care. Lancet 362(9391):1225–1230

    Article  Google Scholar 

  35. Backman R, Foy R, Michael B, Defres S, Kneen R, Solomon T (2015) The development of an intervention to promote adherence to national guidelines for suspected viral encephalitis. Implement Sci 10:37

    Article  Google Scholar 

  36. Taylor N, Lawton R, Slater B, Foy R (2013) The demonstration of a theory-based approach to the design of localized patient safety interventions. Implement Sci 8(1):123

    Article  Google Scholar 

  37. Wensing M, Oxman A, Baker R et al (2011) Tailored implementation for chronic diseases (TICD): a study protocol. Implement Sci 6:103

    Article  Google Scholar 

  38. Baker R, Camosso-Stefinovic J, Gillies C et al (2010) Tailored interventions to overcome identified barriers to change: effects on professional practice and health care outcomes. Cochrane Database Syst Rev 3:CD005470

    Google Scholar 

  39. Vasen H, Velthuizen M, Kleibeuker J et al (2016) Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry. Fam Cancer 15:429–435

    Article  Google Scholar 

  40. Tiller K, Meiser B, Tucker K, et al. (2003) A randomised trial of a decision aid for women at risk for ovarian cancer. Psycho-Oncol 12(4): S107-S

  41. Wakefield C, Meiser B, Homewood J et al (2008) A randomized trial of a decision aid for individuals considering genetic testing for hereditary non-polyposis colorectal cancer risk. Cancer 113(5):956–965

    Article  Google Scholar 

  42. Kim J, Coyte P, Cotterchio M et al (2016) The impact of receiving predictive genetic information about Lynch syndrome on individual colonoscopy and smoking behaviors. Cancer Epidemiol Biomarkers Prev 25(11):1524–1533

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We are very grateful to the participants in this research. Bettina Meiser is supported by a National Health and Medical Research Council (NHMRC) Senior Research Fellowship Level B (ID 1078523). Michelle Peate is supported by a University of Melbourne MDHS Research Fellowship. This study was funded by a Strategic Research Partnership Grant (SRP 13-02) from the Cancer Council of New South Wales.

ICCon Audit Study Collaborative Group: The additional members of the Inherited Cancer Connect (ICCon) Audit Study Collaborative Group are: Genetic Health Queensland (R. Susman); Genetics Services Western Australia (N. Pachter); Liverpool Hospital (A. Goodwin); Peter MacCallum Cancer Centre (P. James, L. Mascarenhas, C. Morton, S. Shanley, M.A. Young); Peter MacCallum Cancer Centre (P. James, L. Mascarenhas, C. Morton, S. Shanley, M.A. Young); Prince of Wales Hospital (L. Andrews, E.A. Morrow, K. Tucker); Royal Melbourne Hospital (P. James, G. Lindeman, L. Mascarenhas, C. Morton); Royal North Shore Hospital (M. Field); Royal Prince Alfred (A. Goodwin); South Australian Clinical Genetics Services (M. Monnik, N. Poplawski); Austin Hospital (M. Delatycki, T. John); Monash Health (M. Harris) and UNSW Sydney (R. Kerr, B. Vora).

Author information

Author notes

  1. B. Meiser and R. Kaur shared first authorship

Authors and Affiliations

  1. Psychosocial Research Group, Prince of Wales Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, Australia

    B. Meiser, R. Kaur, A. Morrow, M. Peate, W. K. T. Wong & E. McPike

  2. Crown Princess Mary Cancer Centre at Westmead Hospital, Sydney, Australia

    J. Kirk

  3. Centre for Cancer Research, The Westmead Institute for Medical Research, Sydney Medical School, University of Sydney, Sydney, Australia

    J. Kirk

  4. Department of Obstetrics and Oncology, Royal Women’s Hospital, University of Melbourne, Melbourne, Australia

    M. Peate

  5. School of Social Sciences, UNSW Sydney, Sydney, Australia

    W. K. T. Wong

  6. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Australia

    E. Cops, L. Thrupp, A. H. Trainer & G. Mitchell

  7. Royal Melbourne Hospital, Melbourne, Australia

    E. Cops

  8. Genetic Services of Western Australia, King Edward Memorial Hospital, Perth and School of Medicine, University of Western Australia, Perth, Australia

    C. Dowson

  9. Royal Brisbane and Women’s Hospital, Genetic Health Queensland, Herston, QLD, Australia

    R. Austin

  10. Adult Genetics Unit, Royal Adelaide Hospital, Adelaide and School of Medicine, University of Adelaide, Adelaide, Australia

    M. Fine

  11. University of Queensland, Brisbane, Australia

    R. Ward

  12. Faculty of Medicine and Health, University of Sydney, Sydney, Australia

    R. Ward

  13. Department of Medicine, Royal Melbourne Hospital, Melbourne, Australia

    F. Macrae

  14. Department of Colorectal Medicine and Genetics, University of Melbourne, Melbourne, Australia

    F. Macrae

  15. Swinburne University of Technology, Hawthorn, Australia

    J. E. Hiller

  16. School of Public Health, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, Australia

    J. E. Hiller

  17. The Sir Peter MacCallum Department of Medical Oncology, University of Melbourne, Melbourne, Australia

    A. H. Trainer & G. Mitchell

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  1. B. Meiser
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  8. E. Cops
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  17. G. Mitchell
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Consortia

for the ICCon Audit Study Collaborative Group

  • R. Susman
  • , N. Pachter
  • , A. Goodwin
  • , P. James
  • , L. Mascarenhas
  • , C. Morton
  • , S. Shanley
  • , M. A. Young
  • , L. Andrews
  • , E. A. Morrow
  • , K. Tucker
  • , G. Lindeman
  • , M. Field
  • , M. Monnik
  • , N. Poplawski
  • , M. Delatycki
  • , T. John
  • , M. Harris
  • , R. Kerr
  •  & B. Vora

Corresponding author

Correspondence to B. Meiser.

Ethics declarations

Conflict of interest

Bettina Meiser has a remunerated consultant role with the company Astrazeneca with respect to an unrelated project. None of the other authors have conflicts of interest to report.

Ethical approval

The study was approved by the Peter MacCallum Cancer Centre and King Edward Memorial Hospital Human Research Ethics Committees. All interviewees gave their consent for publication of their interview data.

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The members of ICCon Audit Study Collaborative Group are listed in Acknowledgment

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Meiser, B., Kaur, R., Kirk, J. et al. Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics. Familial Cancer 19, 337–346 (2020). https://doi.org/10.1007/s10689-020-00183-4

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