Table 2.
Example of application of new criteria to screening for genetic susceptibility to colorectal cancer
Crossroads 99 criteria | Testing for susceptibility to colorectal cancer | Met by new criteria |
---|---|---|
Knowledge of population and disease | ||
Burden of target disease should be important | Colorectal cancer is third commonest malignancy in United Kingdom, incidence is increasing | Yes |
Ability to identify target population or population at risk | Amsterdam criteria are generally accepted; further research on accuracy of criteria is required; no large series of patients fulfilling Amsterdam criteria has mutation detection rate >70% | Partially |
Considerable level of risk or latent or preclinical phase | Lifetime risk of colorectal cancer in those with two first degree relatives is 1 in 6; in those with autosomal dominant pedigree it is 1 in 2 (population risk is 1 in 50) | Yes |
Natural course (from susceptibility to precursor, early disease, and advanced disease) should be adequately understood | Natural course from premalignant adenomatous polyps to malignant polyps is understood; whether progression is different in those with different mutations needs to be more clearly established | Partially |
Feasibility of screening procedures | ||
Suitable test or examination | Known mutations can be screened for, familial testing protocols are required; acceptability in population is being assessed | Partially |
Entire screening procedure acceptable to population | Acceptability of familial assessment and mutation testing in general population is not yet established | No |
Screening should be continuing process and encompass all elements of screening procedures | Complete range of services required for screening (education, counselling, support) not in place | No |
Interventions and follow up | ||
Interventions that have physical, psychological, and social net benefit available | Surveillance and treatment available but balance of physical, psychological, and social benefits not established; interventions such as chemoprevention are being evaluated | No |
Facilities for adequate surveillance, prevention, treatment, education, counselling, and social support available | Level of services required and infrastructure not in place | No |
Consensus on accepted management for those with positive test results | Emerging consensus on management of mutation carriers | Partially |
System issues | ||
Costs should be balanced in economic, psychological, social, and medical terms and with healthcare expenditure as whole | Cost effectiveness in economic, psychological, social, and medical terms not established | No |
Appropriate screening services accessible to entire population without adverse consequences for non-participants | Familial assessment and testing available only in specialised centres | No |
Appropriate confidentiality procedures and antidiscrimination provisions for participants and non-participants | Appropriate procedures and provisions not yet completely studied or established | No |