Journal of Genetic Counseling

, Volume 14, Issue 6, pp 453–463

Psychological Adjustment and Knowledge About Hereditary Hemochromatosis in a Clinic-Based Sample: A Prospective Study

  • Bettina Meiser
  • Stewart Dunn
  • Jeannette Dixon
  • Lawrie W. Powell
Original Research

Abstract

This study assessed psychological adjustment and quality of life relative to population-based norms and knowledge about hereditary hemochromatosis in a sample of 101 patients who attended a hemochromatosis clinic. Participants were assessed prior to their clinic visit, and two weeks and 12 months after attendance, using self-administered questionnaires. Mean Mental Health Component Scores from the Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36) (45.3, 95% CI 43.2, 47.4) were as compromised as those found amongst stroke victims (45.9, 95% CI 42.8, 49.0) who had participated in a national health survey. Recall of the genetic testing result was less than optimal, in that only 69.3% of those with genetic testing results knew whether they carried one or two mutations. This study demonstrates that patients would benefit from routine assessment of psychological distress and referral to mental health professionals of those whose levels of distress suggest a need for clinical intervention. Results also show that patients may benefit from strategies aimed at improving recall of genetic testing results.

Key Words

hereditary hemochromatosis psychological adjustment knowledge screening behaviors 

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References

  1. Adams, P. C. (1995). Screening blood donors for hereditary hemochromatosis: Decision analysis model based o a 30-year database. Gastroenterol, 109, 177–188.Google Scholar
  2. Adams, P. C., & Speechley, M. (1996). The effect of arthritis on the quality of life in hereditary hemochromatosis. J Rheumatol, 123, 707–710.Google Scholar
  3. Allen, K., & Williamson, R. (1999). Should we genetically test everyone for haemochromatosis? J Med Ethics, 25, 209–214.PubMedGoogle Scholar
  4. Australian Bureau of Statistics. (1997). National Health Survey: SF-36 Population Norms. ABS Catalogue No. 4399.0: Canberra.Google Scholar
  5. Axworthy, D., Brock, D. J. H., Bobroww, M., & Marteau, T. M. (1996). Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. Lancet, 347, 1443–1446.PubMedGoogle Scholar
  6. Bassett, M., Dunn, C., Battese, K., & Peek, K. (2001). Acceptance of neonatal genetic screening for hereditary hemochromatosis by informed parents. Genet Test, 5, 317–320.CrossRefPubMedGoogle Scholar
  7. Bekker, H., Denniss, G., Modell, M., Bobrow, M., & Marteau, T. (1994). The impact of population based screening for carriers of cystic fibrosis. J Med Genet, 31, 364–368.PubMedCrossRefGoogle Scholar
  8. Beutler, E., Felliti, V., Kaziol, J., Ho, N., & Gelbart, T. (2002). Penetrance of 845GA (C282Y) HFE hereditary hemochromatosis mutation in the USA. Lancet, 359, 211–218.CrossRefPubMedGoogle Scholar
  9. Bomford, A. (2002). Genetics of haemochromatosis. Lancet, 360, 1673–1681.CrossRefPubMedGoogle Scholar
  10. Burke, W., Press, N., & McDonnell, S. M. (1998a). Hemochromatosis: Genetics helps to define a multifactorial disease. Clin Genet, 54, 44–52.Google Scholar
  11. Burke, W., Thomson, E., Khoury, M. J., McDonnell, S. M., Press, N., Adams, P. C., et al. (1998b). Hereditary hemochromatosis: Gene discovery and its implications for population-based screening. JAMA, 280, 172–178.Google Scholar
  12. Cella, D. F., Mahon, S. M., & Donovan, M. I. (1990). Cancer recurrence as a traumatic event. Behav Med, 16, 15–22.PubMedCrossRefGoogle Scholar
  13. Cogswell, M., Burke, W., McDonnell, S., & Franks, A. (1999). Screening for hemochromatosis: A public health perspective. Am J Prev Med.Google Scholar
  14. Collins, V., Meiser, B., Halliday, J., Gaff, C., & St John, J. (Submitted to Cancer on 10/7/2004.). Screening and preventive behaviour one year following predictive genetic testing for hereditary non-polyposis colorectal cancer.Google Scholar
  15. Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., et al. (1996). A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet, 13, 399–408.CrossRefPubMedGoogle Scholar
  16. Gertig, D., Fletcher, A., & Hopper, J. (2002). Public health aspects of genetic screening for hereditary hemochromatosis in Australia. Austr NZ J Pub Health, 26, 518–524.Google Scholar
  17. Hicken, B., Calhoun, D., & Tucker, D. (2003). Genetic testing for haemochromatosis: Attitudes and acceptability among young and older adults. Genet Test, 7, 235–239.CrossRefPubMedGoogle Scholar
  18. Hicken, B. L., Calhoun, D. A., Barton, J. C., & Tucker, D. C. (2004). Attitudes about and psychosocial outcomes of HFE genotyping for hemochromatosis. Genet Test, 8, 90–7.PubMedGoogle Scholar
  19. Hornsby, J., Sappington, J., Mongan, P., Gullen, W., Bono, S., & Altekruse, E. (1985). Risk for Bladder Cancer. JAMA, 253, 1899–1902.CrossRefPubMedGoogle Scholar
  20. Jarvinen, H. J., Aarnio, M., Mustonen, H. et al. (2000). Controlled 15-year trial on screening for colorectal cancer in families with hereditary non-polyposis colorectal cancer. Gastroenterol, 188, 829–834.Google Scholar
  21. Jazwinska, E. C., Cullen, L. M., & Busfield, F.E.A. (1996). Haemochromatosis and HLA-H. Nat Genet, 13, 399–408.Google Scholar
  22. Kerlikowske, K., Grady, D., Barclay, J., Sickles, E. A., Eaton, A., & Ernster, V. (1996). Effect of age, breast density and family history on the sensitivity of first screening mammography. JAMA, 276, 33–38.PubMedGoogle Scholar
  23. Leggett, B. (1996). Iron in an Australian population. J Gastroenterol Hepatol, 11, 1037–1039.PubMedGoogle Scholar
  24. Lerman, C., Hughes, C., Croyle, R., Main, D., Durham, C., Snyder, C., et al. (2000). Prophylactic surgery decisions and surveillance practices one year following BRCA1/2 testing. Prev Med, 31, 75–80.CrossRefPubMedGoogle Scholar
  25. Lipkus, I. M., & Hollands, J. G. (1999). The visual communication of risk. Journal of the National Cancer Institute Monographs, 25, 149–163.PubMedGoogle Scholar
  26. Lobb, E., Butow, P., Meiser, B., Barratt, A., Gaff, C., Young, M., et al. (2004). Communication and information-giving in high-risk breast cancer consultations: Influence on patient outcomes. British Journal of Cancer 2004;90(2):321–327., 90, 321–327.Google Scholar
  27. Lobb, E., Butow, P., Meiser, B., Barratt, A., Tucker, K., Gaff, C., et al. (2002). Tailoring communication in consultations with women from high-risk breast cancer families. Br J Cancer, 87, 502–508.CrossRefPubMedGoogle Scholar
  28. Marteau, T. M., & Bekker, H. (1992). The development of a six-item short-form of the state scale of the Spielberger State-Trait Anxiety Inventory (STAI). Br J Clin Psychol, 31, 301–306.PubMedGoogle Scholar
  29. McCaul, K. D., Branstetter, A. D., O'Donnell, S. M., Jacobson, K., & Quinlan, K. B. (1998). A descriptive study of breast cancer worry. J Behav Med, 21, 565–579.CrossRefPubMedGoogle Scholar
  30. McHorney, C. A., Ware, J. E., Lu, C. F. R., & Sherbourne, C. D. (1994). The MOS 36-item Short-Form Health Survey (SF-36): III. Tests of data quality, scaling assumptions, and reliability across diverse patient groups. Med Care, 32, 40–66.PubMedGoogle Scholar
  31. McHorney, C. A., Ware, J. E., & Raczek, A. E. (1993). The MOS 36-item Short-Form Health Survey (SF-36): II. Psychometric and clinical tests of validity in measuring physical and mental health constructs. Med Care, 31, 247–263.PubMedGoogle Scholar
  32. McLaren, C., Barton, J., Adams, P., Harris, E., Acton, R., Press, N., et al. (2003). Haemochromatosis and Iron Overload Screening (HEIRS) Study design for an evaluation of 100,000 primary care-based adults. Am J Med Sc, 325, 53–62.CrossRefGoogle Scholar
  33. Meiser, B., Butow, P., Price, M., Bennett, B., Berry, G., Tucker, K., et al. (2003). Attitudes to prophylactic strategies in Australian women at increased risk for breast cancer. J Women Health, 12, 769–778.CrossRefGoogle Scholar
  34. Michie, S., French, D., & Marteau, T. (2002). Predictive genetic testing: Mediators and moderators on anxiety. Inter J Behav Med, 9, 309–321.Google Scholar
  35. Nisselle, A., Delatyki, M., Collins, V., Metcalfe, S., Aitken, M., du Sart, D., et al. (2004). Implementation of HaemScreen, a workplace-based genetic screening program for haemochromatosis. Clin Genet, 5, 358–367.Google Scholar
  36. Olynyk, J., Cullen, D., Aquilia, S., Rossi, E., Summerville, L., & Powell, L. (1999). A population-based study of the clinical expression of the hemochromatosis gene. New Engl J Med, 341, 718–724.CrossRefPubMedGoogle Scholar
  37. Powell, L. (2002). Hereditary hemochromatosis and iron overload diseases. J Gastroenterol Hepatol, 17 (Suppl.), 191–195.Google Scholar
  38. Power, T., & Adams, P. (2001). Psychosocial impact of C282Y mutation testing for haemochromatosis. Genet Test, 5, 107–110.CrossRefPubMedGoogle Scholar
  39. Spielberger, C. D. (1983). State-Trait Anxiety Inventory for Adults (Form Y). Mind Garden: Palo Alto.Google Scholar
  40. Thewes, B., Meiser, B., & Hickie, I. (2001). Validation of the Impact of Events Scale in women at increased risk of developing hereditary breast cancer. Psycho-Oncol, 10, 459–468.Google Scholar
  41. Ware, J., & Kosinski, M. (2001). SF-36 Physical and Mental Health Summary Scales: A manual for users of version 1. Quality Metric Inc.: Lincoln, RI.Google Scholar
  42. Ware, J. E., & Sherbourne, C. D. (1992). The MOS 36-item Short-Form Health Survey (SF-36): I. Conceptual Framework and item selection. Med Care, 30, 473–483.PubMedGoogle Scholar

Copyright information

© Springer Science + Business Media, Inc. 2005

Authors and Affiliations

  • Bettina Meiser
    • 1
    • 2
    • 5
  • Stewart Dunn
    • 3
  • Jeannette Dixon
    • 4
  • Lawrie W. Powell
    • 4
  1. 1.Hereditary Cancer Clinic, Department of Medical OncologyPrince of Wales HospitalSydneyAustralia
  2. 2.School of PsychiatryUniversity of NSWSydney
  3. 3.Department of Psychological MedicineRoyal North Shore HospitalSydneyAustralia
  4. 4.Queensland Institute of Medical Research and Royal Brisbane and Women's HospitalBrisbane
  5. 5.Hereditary Cancer ClinicPrince of Wales HospitalSydneyAustralia

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