Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.

BACKGROUND: Hereditary adenomatous polyposis syndromes, including familial adenomatous polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of colorectal and other cancers. METHODS: A team of 38 experts convened to update the 2008 European recommendations for the clinical management of patients with adenomatous polyposis syndromes. Additionally, other rare monogenic adenomatous polyposis syndromes were reviewed and added. Eighty-nine clinically relevant questions were answered after a systematic review of the existing literature with grading of the evidence according to Grading of Recommendations, Assessment, Development, and Evaluation methodology. Two levels of consensus were identified: consensus threshold (≥67% of voting guideline committee members voting either 'Strongly agree' or 'Agree' during the Delphi rounds) and high threshold (consensus ≥ 80%). RESULTS: One hundred and forty statements reached a high level of consensus concerning the management of hereditary adenomatous polyposis syndromes. CONCLUSION: These updated guidelines provide current, comprehensive, and evidence-based practical recommendations for the management of surveillance and treatment of familial adenomatous polyposis patients, encompassing additionally MUTYH-associated polyposis, gastric adenocarcinoma and proximal polyposis of the stomach and other recently identified polyposis syndromes based on pathogenic variants in other genes than APC or MUTYH. Due to the rarity of these diseases, patients should be managed at specialized centres.

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

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.

The Teesside cancer family history service: change management and innovation at cancer network level.

The Teesside project took the underlying principle of the Kenilworth model--that people with a family history of cancer should be 'triaged' and signposted to appropriate clinical services--and applied it to a whole clinical cancer network in which inequity was the major driver for change. Unlike the Kenilworth model, the Department of Health/Macmillan Cancer Support-funded pilot project in Teesside embedded genetic risk assessment at secondary care level. The project took a 'bottom up' approach that engaged a wide variety of stakeholder groups and identified key challenges that formed the basis of a clear strategic plan. A number of specialist cancer nurses across the network had independently developed risk assessment roles over preceding years: these roles needed to be redefined prior to the creation of a small team of genetic risk assessment practitioners ('GRAPs'). This innovation challenged existing nursing roles on a local and national level. In turn, however, we were able to introduce a simple, single network-wide referral pathway, reducing workload on both primary care and tumour-specific services; to adopt a standardised genetic risk assessment pathway; and to incorporate risk assessment as a key step in the decision to enroll an individual in a clinical screening programme. Collaborative audit proved to be a useful way of engaging stakeholders and holding their attention throughout the three-year project, proving the value of the project in their terms, and embedding the changes we had made. The keys to success in this project were inclusiveness, transparency and clear strategic management.