Report in English with a Dutch summary (KCE reports 45A)

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44 Screening for Colorectal Cancer KCE reports vol.45 using the health insurer perspective. Using U.S. population estimates, 22 million would be eligible for family history assessment, and one million would be eligible for early colonoscopy; 2.834 invasive cancers would be detected, and 29.331 life years would be gained. The initial program cost would be USD $900 million. The discounted cost per life year gained of family history assessment versus no assessment equals USD $58.228. The results were most sensitive to the estimates of life expectancy benefit from earlier screening, the cost of colonoscopy, and the relative risk of colon cancer in those with a family history. The authors concluded that the cost-effectiveness of family history assessment for colorectal cancer approaches that of other widely accepted technologies; yet, the results are sensitive to several assumptions where better data are needed. Because of the relatively high prevalence of family history in the population, careful analysis and empirical data are needed. 3.3.6 Conclusion Individuals with a family history of colorectal cancer are at increased risk of developing colorectal cancer and warant colonoscopic surveillance starting before 50 years of age. This risk is greater (and the targeted screening should start earlier) when associated with early age of onset or multiple affected relatives. 3.4 RISK STRATIFICATION The American Gastroenterological Association (AGA) recommends 55 that clinicians determine an individual patient s risk status for the development of CRC well before the earliest potential initiation of screening (typically around age 20 years, but earlier if there is a family history of FAP). The individual s risk status determines when screening should be initiated and what tests and frequency are appropriate. Risk stratification can be accomplished by asking several questions aimed at uncovering the risk factors for colorectal cancer 28: (1) Has the patient had colorectal cancer or an adenomatous polyp and at what age? (2) Does the patient have an illness (e.g., inflammatory bowel disease) that predisposes him or her to colorectal cancer? (3) Has a family member had colorectal cancer or an adenomatous polyp? If so, how many, was it a firstdegree relative (parent, sibling, or child), and at what age was the cancer or polyp first diagnosed? A positive response to any of these questions should prompt further efforts to identify and define the specific condition associated with increased risk. For patients with a positive family history the New Zealand Guidelines Group (NZGG) proposes a risk stratification in 3 categories 27, taking however 55 years as cut-off age instead of the 60 years used in the US: 1. Category 1: Individuals with a slight increase in risk of CRC due to family history (up to 2-fold compared with the general population): one FDR with CRC diagnosed over the age of 55 years. 2. Category 2: Individuals with a moderate increase in risk of CRC (3-to 6-fold compared with the general population): a. One FDR with CRC diagnosed under the age of 55 years. b. Two FDR on the same side of the family with CRC diagnosed at any age.
KCE reports vol.45 Screening for Colorectal Cancer 45 3. Category 3: Individuals with a potentially high risk of CRC: more than 6-fold compared with the general population or 50% lifetime risk: a. A family history of FAP, HNPCC, or other familial CRC syndromes117, 139. b. One FDR plus two or more FDR or second-degree relatives (SDR), all on the same side of the family, with a diagnosis or CRC at any age. c. Two FDR, or one FDR plus one or more SDR, all on the same side of the family, with a diagnosis of CRC and one such relative (1) was diagnosed with CRC under age of 55 years, (2) developed multiple bowel cancers, or (3) developed an extra-colonic tumor suggestive of HNPCC (i.e., endometrial, ovarian, stomach, small bowel, upper renal tract, pancreas, or brain). d. At least one FDR or SDR diagnosed with CRC in association with multiple bowel polyps. e. A personal history or one FDR with CRC diagnosed under the age of 50, particularly where colorectal tumor immunohistochemistry has revealed loss of protein expression for one of the mismatch repair genes (hMLH1 or hMSH2). Although family history is used extensively to estimate the risk of colorectal cancer, there is considerable potential for recall bias and inaccuracy 153-155. One study 156 has quantified the inaccuracy of interview in identifying people at risk of colorectal cancer due to a family history. Colorectal cancer was substantially underreported and so family history information should be interpreted with caution. On the other hand, information on individual and family CRC risk must be communicated very cautiously. Little investigation on psychological impact of such information has been done so far and further investigations are needed to develop and adjust risk information provided to the individual in order to avoid misunderstanding, especially as this information is going to be revealed to family members. Counselling support should be offered to those individuals who experience psychological distress 134. The risks of genetically mediated colorectal cancer are variable and depend on the specific germ line mutations. Some mutations are associated with a 100% lifetime risk of developing cancer, while others are associated with only a mild increase in risk. Although there are overlapping clinical features in many of these syndromes, they can be distinguished by the age at cancer diagnosis, inheritance pattern, number and distribution of polyps, specific histological features of the cancers, and the presence of distinctive extra-colonic features (e.g. the Amsterdam & Bethesda criteria 118, 109, 157-160, 58, 47). The introduction and refinement of genetic testing 161-164, 129, 165, 47, 166 has provided a new and invaluable tool for the diagnosis and assessment of cancer risk for suspected cases of hereditary colon cancer. 3.5 PREVALENCE OF A FAMILY HISTORY OF COLORECTAL CANCER IN THE GENERAL POPULATION Robust estimates of the prevalence of a family history of colorectal cancer in the general population are essential to inform planning of provision for
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KCE reports 1. Effectiviteit en kos
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