Familial Cancer

, Volume 12, Issue 3, pp 497–502 | Cite as

Cancer family history triage: a key step in the decision to offer screening and genetic testing

Original Article

Abstract

The Macmillan Cancer Family History Service in Teesside has provided genetic risk assessment for individuals with a personal or family history of cancer since 2004. We sought to examine the effect of risk assessment on patient management, with particular emphasis on referral for clinical screening and selection of families for tertiary genetics assessment. The degree of concordance between the initial risk assignment (using diagnoses reported by the family) and final risk assignment (using confirmed diagnoses) was no greater than 72.3 % in 1,363 breast cancer families; a similar effect was seen in 764 colorectal cancer families (77.3 %). Clinically important risk reassignment occurred at the three key stages in the risk assessment pathway. Overall, genetic risk was reassigned in almost 30 % of colorectal families and 20 % of breast cancer families, resulting in a change in screening recommendation and/or referral for tertiary genetic assessment. Careful, detailed family history assessment, with confirmation of reported diagnoses where it may affect risk assignment, is an important process for the point of view of patient management and resource allocation.

Keywords

Family history Triage Risk assessment Service development 

Notes

Acknowledgments

The authors wish to acknowledge Macmillan Cancer Support for their financial and educational input during the pilot phase of this service development; and the clinical and administrative support provided by Angela Russell, Jackie Patton and Kay Hutchinson.

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Johnson N, Lancaster T, Fuller A et al (1995) The prevalence of a family history of cancer in general practice. Fam Pract 12:287–289PubMedCrossRefGoogle Scholar
  2. 2.
    National Institute for Health and Clinical Exellence Clinical Guideline CG41. Familial breast cancer: the classification and care of women at risk of familial breast cancer in primary, secondary and tertiary care. October 2006Google Scholar
  3. 3.
    National Institute for Health and Clinical Exellence Cancer service guidance Improving outcomes in colorectal cancers: Manual update. June 2004Google Scholar
  4. 4.
    Douglas FS, O’Dair LC, Robinson M, Evans DGR, Lynch SA (1999) The accuracy of diagnoses as reported in families with cancer: a retrospective study. J Med Genet 36:309–312PubMedGoogle Scholar
  5. 5.
    Mitchell RJ, Brewster D, Campbell H, Porteous MEM, Wyllie AH, Bird CC, Dunlop M (2004) Accuracy of reporting of family history of colorectal cancer. Gut 53:291–295PubMedCrossRefGoogle Scholar
  6. 6.
    Navarro C, Chirlaque MD, Tormo MJ, Pérez-Flores D, Rodríguez-Barranco M, Sánchez-Villegas A, Agudo A, Pera G, Amiano P, Dorronsoro M, Larrañaga N, Quirós JR, Ardanaz E, Barricarte E, Martínez C, Sánchez MJ, Berenguer M, González CA (2006) Validity of self reported diagnoses of cancer in a major Spanish prospective cohort study. J Epidemiol Community Health 60:593–599PubMedCrossRefGoogle Scholar
  7. 7.
    Qureshi N, Wilson B, Santaguida P, Carroll J, Allanson J, Culebro CR, Brouwers M, Raina P et al (2007) Collection and use of cancer family history in primary care. Evid Rep Technol Assess 159:1–84Google Scholar
  8. 8.
    Brennan P, Claber O, Shaw T (2007) The Teesside Cancer Family History Service: change management and innovation at cancer network level. Fam Cancer 6:181–187PubMedCrossRefGoogle Scholar
  9. 9.
    Department of Health. The NHS Cancer plan: a plan for investment, a plan for reform. September 2000Google Scholar
  10. 10.
    Department of Health. Cancer reform strategy. December 2007Google Scholar
  11. 11.
    Mulsow J, Lee J, Dempsey C, Rothwell J, Geraghty JG (2009) Establishing a family risk assessment clinic for breast cancer. Breast J 15(suppl 1):33–38CrossRefGoogle Scholar
  12. 12.
    Kelly KM, Shedlosky-Shoemaker R, Porter K, DeSimone P, Andrykowski MA (2007) Cancer family history reporting: impact of method and psychosocial factors. J Genet Couns 16:373–382PubMedCrossRefGoogle Scholar
  13. 13.
    Qureshi N, Carroll JC, Wilson B, Santaguida P, Allanson J, Brouwers M, Raina P (2009) The current state of cancer family history collection tools in primary care: a systematic review. Genet Med 11:495–506PubMedCrossRefGoogle Scholar
  14. 14.
    Armel SR, McCuaig J, Finch A, Demsky R, Panzarella T, Murphy J, Rosen B (2009) The effectiveness of family history questionnaires in cancer genetic counselling. J Genet Couns 18:366–378PubMedCrossRefGoogle Scholar
  15. 15.
    Roth FL, Camey SA, Caleffi M, Schuler-Faccini L, Pamero EI, Bochi C, Moreira SM, Kalakun L, Giugliani R, Ashton-Prolla P (2009) Consistency of self-reported first-degree family history of cancer in a population study. Fam Cancer 8:195–202PubMedCrossRefGoogle Scholar
  16. 16.
    Armel SR, Hitchman K, Millar K, Zahavich L, Demsky R, Murphy J, Rosen B (2011) The use of family history questionnaires: an examination of genetic risk estimates and genetic testing eligibility in the non-responder population. J Genet Couns 20:355–364PubMedCrossRefGoogle Scholar
  17. 17.
    Geer KP, Ropka ME, Cohn WF, Jones SM, Miesfeldt S (2001) Factors influencing patients’ decisions to decline cancer genetic counseling services. J Genet Couns 10:25–40PubMedCrossRefGoogle Scholar
  18. 18.
    Schlich-Bakker KJ, ten Kroode HF, Warlam-Rodenhuis CC, van den Bout J, Ausems MG (2007) Barriers to participating in genetic counseling and BRCA testing during primary treatment for breast cancer. Genet Med 9:766–777PubMedCrossRefGoogle Scholar
  19. 19.
    Cappelli M, Verma S, Korneluk Y, Hunter A, Tomiak E, Allanson J, DeGrasse C, Corsini L, Humphreys L (2005) Psychological and genetic counseling implications for adolescent daughters of mothers with breast cancer. Clin Genet 67:481–491PubMedCrossRefGoogle Scholar
  20. 20.
    Weitzel JN, Weitzel JN, Lagos VI, Cullinane CA, Gambol PJ, Culver JO, Blazer KR, Palomares MR, Lowstuter KJ, MacDonald DJ (2007) Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA 297:2587–2595PubMedCrossRefGoogle Scholar
  21. 21.
    Hopper JL, Jenkins MA, Dowty JG, Dite GS, Apicella C, Keogh L, Win AK, Young JP, Buchanan D, Walsh MD, Rosty C, Baglietto L, Severi G, Phillips KA, Wong EM, Dobrovic A, Waring P, Winship I, Ramus SJ, Giles GG, Southey MC (2012) Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers. Pathology 44:89–98PubMedCrossRefGoogle Scholar
  22. 22.
    Ziogas A, Horick NK, Kinney AY, Lowery JT, Domchek SM, Isaacs C, Griffin CA, Moorman PG, Edwards KL, Hill DA, Berg JS, Tomlinson GE, Anton-Culver H, Strong LC, Kasten CH, Finkelstein DM, Plon SE (2011) Clinically relevant changes in family history of cancer over time. JAMA 306:172–178PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  1. 1.Northern Genetics Service, Teesside Genetics UnitJames Cook University HospitalMiddlesbroughUK
  2. 2.Macmillan Cancer Family History ServiceJames Cook University HospitalMiddlesbroughUK

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