Journal of Genetic Counseling

, Volume 22, Issue 1, pp 125–137 | Cite as

A Mobile Colonoscopic Unit for Lynch Syndrome: Trends in Surveillance Uptake and Patient Experiences of Screening in a Developing Country

  • Zandrè BruwerEmail author
  • Merle Futter
  • Raj Ramesar
Original Research


The Genetic and Endoscopic Surveillance Clinic is an annual outreach service offering accessible colonoscopic surveillance to known families with Lynch syndrome living in remote areas of the Western and Northern Cape Province of South Africa. Unfortunately attendance at this outreach clinic has been declining over several years and fewer than a quarter of participants, attending for surveillance, have been adherent with all their recommended screening appointments. Concerns exist for non-adherent individuals as screening can prevent colorectal cancer by removing the precancerous lesion or enabling the treatment of a malignancy at an early stage. This study explored the experience of surveillance from both the non-adherers’ and adherers’ perspectives and identified unique factors affecting attendance at the outreach clinic. Rates of compliance are calculated for 191 mutation-positive cases of Lynch syndrome, using strict attendance criteria, and compared to figures obtained from self-reported attendance. Non-compliance was under-reported and compliance was exaggerated when basing data on self-reported adherence to recommendations. Specific characteristics of the outreach clinic affecting compliance are identified and recommendations are made to facilitate improvements to the service. These improvements can result in increased compliance with screening regimens and ultimately reduce cancer-related mortality.


Genetic counselling Lynch syndrome Surveillance Experience Qualitative research Developing country 



We are grateful to all the participants who took part in this research, especially for their willingness to share their experiences and for their openness in relaying their, often distressing, stories. We would also like to thank Ursula Algar for her insight and immense help with contacting the participants selected to participate in this study. This study was generously funded by the South African Medical Research Council and in part by the Struwig-Germeshuysen Kankernavorsingstrust.


  1. Aarnio, M., Mecklin, J. P., Aaltonen, L. A., Nystrom-Lahti, M., & Jarvinen, H. J. (1995). Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. International Journal of Cancer, 64(6), 430–433.CrossRefGoogle Scholar
  2. Aarnio, M., Sankila, R., Pukkala, E., Salovaara, R., Aaltonen, L. A., de la Chapelle, A., et al. (1999). Cancer risk in mutation carriers of DNA-mismatch-repair genes. International Journal of Cancer, 81(2), 214–218.CrossRefGoogle Scholar
  3. Abdel-Rahman, W. M., Mecklin, J. P., & Peltomaki, P. (2006). The genetics of HNPCC: application to diagnosis and screening. Critical Reviews in Oncology/Hematology, 58(3), 208–220.CrossRefGoogle Scholar
  4. Anderson, D. W., Goldberg, P. A., Algar, U., Felix, R., & Ramesar, R. S. (2007). Mobile colonoscopic surveillance provides quality care for hereditary nonpolyposis colorectal carcinoma families in South Africa. Colorectal Disease, 9(6), 509–514.CrossRefGoogle Scholar
  5. Annie Yu, H. J., Lin, K. M., Ota, D. M., & Lynch, H. T. (2003). Hereditary nonpolyposis colorectal cancer: preventive management. Cancer Treatment Reviews, 29(6), 461–470.CrossRefGoogle Scholar
  6. Barrow, E., Robinson, L., Alduaij, W., Shenton, A., Clancy, T., Lalloo, F., et al. (2009). Cumulative lifetime incidence of extracolonic cancers in lynch syndrome: a report of 121 families with proven mutations. Clinical Genetics, 75(2), 141–149.CrossRefGoogle Scholar
  7. Bleiker, E. M., Menko, F. H., Taal, B. G., Kluijt, I., Wever, L. D., Gerritsma, M. A., et al. (2005). Screening behavior of individuals at high risk for colorectal cancer. Gastroenterology, 128(2), 280–287.CrossRefGoogle Scholar
  8. Colaizzi, P. (1978). Psychological research as the phenomenologist views it. In R. Valle & M. King (Eds.), Existential-phenomenological alternatives for psychology (pp. 6–17). New York: Oxford University Press.Google Scholar
  9. Daly, J., Kellehear, A., & Gliksman, M. (1997). The public health researcher: a methodological guide. New York: Oxford University Press.Google Scholar
  10. de Jong, A. E., Nagengast, F. M., Kleibeuker, J. H., van de Meeberg, P. C., van Wijk, H. J., Cats, A., et al. (2006). What is the appropriate screening protocol in lynch syndrome? Familial Cancer, 5(4), 373–378.CrossRefGoogle Scholar
  11. Doak, C. C., Doak, L. G., Friedell, G. H., & Meade, C. D. (1998). Improving comprehension for cancer patients with low literacy skills: strategies for clinicians. A Cancer Journal for Clinicians, 48(3), 151–162.CrossRefGoogle Scholar
  12. Dunlop, M. G., Farrington, S. M., Carothers, A. D., Wyllie, A. H., Sharp, L., Burn, J., et al. (1997). Cancer risk associated with germline DNA mismatch repair gene mutations. Human Molecular Genetics, 6(1), 105–110.CrossRefGoogle Scholar
  13. Glanz, K., Grove, J., Lerman, C., Gotay, C., & Le Marchand, L. (1999). Correlates of intentions to obtain genetic counseling and colorectal cancer gene testing among at-risk relatives from three ethnic groups. Cancer Epidemiology, Biomarkers & Prevention, 8(4 Pt 2), 329–336.Google Scholar
  14. Goldberg, P. A., Madden, M. V., Harocopos, C., Felix, R., Westbrook, C., & Ramesar, R. S. (1998). In a resource-poor country, mutation identification has the potential to reduce the cost of family management for hereditary nonpolyposis colorectal cancer. Diseases of the Colon and Rectum, 41(10), 1250–1253.CrossRefGoogle Scholar
  15. Goldblatt, J., Madden, M. V., Boshoff, P. J., Wallis, C., & Price, S. K. (1990). Hereditary non-polyposis colorectal cancer in a Namaqualand kindred. South African Medical Journal, 77(1), 42–44.PubMedGoogle Scholar
  16. Hadley, D. W., Jenkins, J. F., Dimond, E., de Carvalho, M., Kirsch, I., & Palmer, C. G. S. (2004). Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer. Journal of Clinical Oncology, 22(1), 39–44.CrossRefGoogle Scholar
  17. Halbert, C. H., Lynch, H., Lynch, J., Main, D., Kucharski, S., Rustgi, A. K., et al. (2004). Colon cancer screening practices following genetic testing for hereditary nonpolyposis colon cancer (HNPCC) mutations. Archives of Internal Medicine, 164(17), 1881–1887.CrossRefGoogle Scholar
  18. Harris, M. A., & Byles, J. E. (1997). A survey of screening compliance among first degree relatives of people with colon cancer in New South Wales. Journal of Medical Screening, 4(1), 29–34.CrossRefGoogle Scholar
  19. Hendriks, Y. M., Wagner, A., Morreau, H., Menko, F., Stormorken, A., Quehenberger, F., et al. (2004). Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology, 127(1), 17–25.CrossRefGoogle Scholar
  20. Holloway, I. (1997). Basic concepts for qualitative research. Oxford: Blackwell Science.Google Scholar
  21. Holloway, I. (2005). Qualitative research in health care. New York: University Press McGraw Hill.Google Scholar
  22. Houlston, R. S., Murday, V., Harocopos, C., Williams, C. B., & Slack, J. (1990). Screening and genetic counselling for relatives of patients with colorectal cancer in a family cancer clinic. British Medical Journal, 301(6748), 366–368.CrossRefGoogle Scholar
  23. Järvinen, H. J., Aarnio, M., Mustonen, H., Aktan-Collan, K., Aaltonen, L. A., Peltomaki, P., et al. (2000). Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology, 118(5), 829–834.CrossRefGoogle Scholar
  24. Järvinen, H. J., Mecklin, J. P., & Sistonen, P. (1995). Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology, 108(5), 1405–1411.CrossRefGoogle Scholar
  25. Jass, J. R., & Stewart, S. M. (1992). Evolution of hereditary non-polyposis colorectal cancer. Gut, 33(6), 783–786.CrossRefGoogle Scholar
  26. Jones, L. S., Nicholson, R. W., & Evans, D. A. (2001). Experience with a one-stop colorectal clinic. Journal of the Royal College of Surgeons of Edinburgh, 46(2), 96–97.PubMedGoogle Scholar
  27. Kasparian, N. A., Wakefield, C. E., & Meiser, B. (2007). Assessment of psychosocial outcomes in genetic counseling research: an overview of available measurement scales. Journal of Genetic Counseling, 16(6), 693–712.CrossRefGoogle Scholar
  28. Kinney, A. Y., Choi, Y. A., DeVellis, B., Kobetz, E., Millikan, R. C., & Sandler, R. S. (2000). Interest in genetic testing among first-degree relatives of colorectal cancer patients. American Journal of Preventive Medicine, 18(3), 249–252.CrossRefGoogle Scholar
  29. Kruger, B. J. (2005). Hereditary nonpolyposis colorectal cancer: factors contributing to adherence and non-adherence to surveillance for mutation carriers in rural areas of the northern and western cape. Master’s thesis. University of Cape Town, South Africa.Google Scholar
  30. Liljegren, A., Lindgren, G., Brandberg, Y., Rotstein, S., Nilsson, B., Hatschek, T., et al. (2004). Individuals with an increased risk of colorectal cancer: perceived benefits and psychological aspects of surveillance by means of regular colonoscopies. Journal of Clinical Oncology, 22(9), 1736–1742.CrossRefGoogle Scholar
  31. Lin, K. M., Shashidharan, M., Thorson, A. G., Ternent, C. A., Blatchford, G. J., Christensen, M. A., et al. (1998). Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer. Journal of Gastrointestinal Surgery, 2(1), 67–71.CrossRefGoogle Scholar
  32. Lindblom, A., Tannergard, P., Werelius, B., & Nordenskjold, M. (1993). Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nature Genetics, 5(3), 279–282.CrossRefGoogle Scholar
  33. Lynch, H. T., Smyrk, T. C., Watson, P., Lanspa, S. J., Lynch, J. F., Lynch, P. M., et al. (1993a). Genetics, natural history, tumorspectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review. Gastroenterology, 104(5), 1535–1549.CrossRefGoogle Scholar
  34. Lynch, H. T., Smyrk, T. C., Lanspa, S. J., Jenkins, J. X., Cavalieri, J., & Lynch, J. F. (1993b). Cancer control problems in the lynchsyndromes. Diseases of the Colon and Rectum, 36(3), 254–260.CrossRefGoogle Scholar
  35. Lynch, H. T., Smyrk, T., & Lynch, J. F. (1998). Molecular genetics and clinical-pathology features of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome): historical journey from pedigree anecdote to molecular genetic confirmation. Oncology, 55(2), 103–108.CrossRefGoogle Scholar
  36. Mack, L. A., Cook, L. S., Temple, W. J., Carlson, L. E., Hilsden, R. J., & Paolucci, E. O. (2009). Colorectal cancer screening among first-degree relatives of colorectal cancer patients: benefits and barriers. Annals of Surgical Oncology, 16(8), 2092–2100.CrossRefGoogle Scholar
  37. McCann, S., Macauley, D., Barnett, Y., Bunting, B., Bradley, A., Jeffers, L., et al. (2009). Family communication, genetic testing and colonoscopy screening in hereditary non-polyposis colon cancer: a qualitative study. Psycho-Oncology, 18(11), 1208–1215.CrossRefGoogle Scholar
  38. Mecklin, J. P. (1987). Frequency of hereditary colorectal carcinoma. Gastroenterology, 93(5), 1021–1025.CrossRefGoogle Scholar
  39. Minichiello, V., Aroni, R., Timewell, E., & Alexander, L. (1990). In depth-interviewing: researching people. Melbourne: Longman Cheshire.Google Scholar
  40. Myers, R. E., Trock, B. J., Lerman, C., Wolf, T., Ross, E., & Engstrom, P. F. (1990). Adherence to colorectal cancer screening in an HMO population. Preventive Medicine, 19(5), 502–514.CrossRefGoogle Scholar
  41. Northam, A. (2010). Colorectal cancer: a neuropsychological approach to non-adherence screening guidelines of individuals with Lynch syndrome in the Western Cape. Master’s thesis. University of Cape Town, South Africa.Google Scholar
  42. Park, Y. J., Shin, K. H., & Park, J. G. (2000). Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in korea. Clinical Cancer Research, 6(8), 2994–2998.PubMedGoogle Scholar
  43. Patton, M. Q. (2002). Qualitative research and evaluation methods (3rd ed.). London: Sage.Google Scholar
  44. Peltomaki, P., Aaltonen, L. A., Sistonen, P., Pylkkanen, L., Mecklin, J. P., Jarvinen, H., et al. (1993). Genetic mapping of a locus predisposing to human colorectal cancer. Science, 260(5109), 810–812.CrossRefGoogle Scholar
  45. Plaschke, J., Engel, C., Kruger, S., Holinski-Feder, E., Pagenstecher, C., Mangold, E., et al. (2004). Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German hereditary nonpolyposis colorectal cancer consortium. Journal of Clinical Oncology, 22(22), 4486–4494.CrossRefGoogle Scholar
  46. Pylvänäinen, K., Kairaluoma, M., & Mecklin, J. P. (2006). Compliance and satisfaction with long-term surveillance in Finnish HNPCC families. Familial Cancer, 5(2), 175–178.CrossRefGoogle Scholar
  47. Ramesar, R. S., Madden, M. V., Felix, R., Harocopos, C. J., Westbrook, C. A., Jones, G., et al. (2000). Molecular genetics improves the management of hereditary non-polyposis colorectal cancer. South African Medical Journal, 90(7), 709–714.PubMedGoogle Scholar
  48. Richardson, J. L., Danley, K., Mondrus, G. T., Deapen, D., & Mack, T. (1995). Adherence to screening examinations for colorectal cancer after diagnosis in a first-degree relative. Preventive Medicine, 24(2), 166–170.CrossRefGoogle Scholar
  49. Rodriguez-Bigas, M. A., Boland, C. R., Hamilton, S. R., Henson, D. E., Jass, J. R., Khan, P. M., et al. (1997). A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. Journal of the National Cancer Institute, 89(23), 1758–1762.CrossRefGoogle Scholar
  50. Sarantakos, S. (1993). Social research. Melbourne: Macmillan Press Ltd.Google Scholar
  51. Savanhu, T. K. (2005). Haplotyping and estimating the age of the founder mutation identifying familial colorectal cancer. Bachelor of Science thesis. University of Cape Town: South Africa.Google Scholar
  52. Stanley, A. J., Gaff, C. L., Aittomaki, A. K., Fabre, L. C., Macrae, F. A., & St John, J. (2000). Value of predictive genetic testing in management of hereditary non-polyposis colorectal cancer (HNPCC). The Medical Journal of Australia, 172(7), 313–316.PubMedGoogle Scholar
  53. Stephenson, B. M., Murday, V. A., Finan, P. J., Quirke, P., Dixon, M. F., & Bishop, D. T. (1993). Feasibility of family based screening for colorectal neoplasia: experience in one general surgical practice. Gut, 34(1), 96–100.CrossRefGoogle Scholar
  54. Stoffel, E. M., Garber, J. E., Grover, S., Russo, L., Johnson, J., & Syngal, S. (2003). Cancer surveillance is often inadequate in people at high risk for colorectal cancer [Electronic version]. Journal of Medical Genetics, 40(5), e54 [Retrieved October 2011 from PubMed Online database].CrossRefGoogle Scholar
  55. Stoffel, E. M., Mercado, R. C., Kohlmann, W., Ford, B., Grover, S., Conrad, P., et al. (2010). Prevalence and predictors of appropriate colorectal cancer surveillance in lynch syndrome. The American Journal of Gastroenterology, 105(8), 1851–1860.CrossRefGoogle Scholar
  56. Stupart, D. A., Goldberg, P. A., Algar, U., & Ramesar, R. (2009). Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation. Colorectal Disease, 11(2), 126–130.CrossRefGoogle Scholar
  57. Sun, W. Y., Basch, C. E., Wolf, R. L., & Li, X. J. (2004). Factors associated with colorectal cancer screening among chinese-americans. Preventive Medicine, 39(2), 323–329.CrossRefGoogle Scholar
  58. Vasen, H., & Morreau, H. (2002). Familial and hereditary colorectal cancer with emphasis on the hereditary non-polyposis colorectal cancer syndrome. Current Diagnostic Pathology, 8(4), 241–248.CrossRefGoogle Scholar
  59. Vasen, H. F., Watson, P., Mecklin, J. P., & Lynch, H. T. (1999). New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology, 116(6), 1453–1456.CrossRefGoogle Scholar
  60. Vernon, S. W., Gritz, E. R., Peterson, S. K., Amos, C. I., Perz, C. A., Baile, W. F., et al. (1997). Correlates of psychologic distress in colorectal cancer patients undergoing genetic testing for hereditary colon cancer. Health Psychology, 16(1), 73–86.CrossRefGoogle Scholar
  61. Voskuil, D. W., Vasen, H. F., Kampman, E., & van’t Veer, P. (1997). Colorectal cancer risk in HNPCC families: development during lifetime and in successive generations. National collaborative group on HNPCC. International Journal of Cancer, 72(2), 205–209.CrossRefGoogle Scholar
  62. Wagner, A., van Kessel, I., Kriege, M. G., Tops, C. M., Wijnen, J. T., Vasen, H. F., et al. (2005). Long term follow-up of HNPCC gene mutation carriers: compliance with screening and satisfaction with counseling and screening procedures. Familial Cancer, 4(4), 295–300.CrossRefGoogle Scholar
  63. Watson, P., Lin, K. M., Rodriguez-Bigas, M. A., Smyrk, T., Lemon, S., Shashidharan, M., et al. (1998). Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members. Cancer, 83(2), 259–266.CrossRefGoogle Scholar
  64. Watson, P., & Lynch, H. T. (2001). Cancer risk in mismatch repair gene mutation carriers. Familial Cancer, 1(1), 57–60.CrossRefGoogle Scholar
  65. Weitzman, E. R., Zapka, J., Estabrook, B., & Goins, K. V. (2001). Risk and reluctance: understanding impediments to colorectal cancer screening. Preventive Medicine, 32(6), 502–513.CrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  1. 1.MRC/UCT Human Genetics Research Unit, Division of Human Genetics, Institute for Infectious Diseases and Molecular MedicineUniversity of Cape Town and Groote Schuur HospitalCape TownSouth Africa

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