Cancer family history triage: a key step in the decision to offer screening and genetic testing
- 325 Downloads
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.
KeywordsFamily history Triage Risk assessment Service development
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.
- 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.National Institute for Health and Clinical Exellence Cancer service guidance Improving outcomes in colorectal cancers: Manual update. June 2004Google Scholar
- 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.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
- 9.Department of Health. The NHS Cancer plan: a plan for investment, a plan for reform. September 2000Google Scholar
- 10.Department of Health. Cancer reform strategy. December 2007Google Scholar
- 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.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