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

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.