[Can an online risk assessment tool for identification of hereditary colorectal cancer reach the at-risk population and influence screening compliance?].
OBJECTIVE
Lynch syndrome is a frequent autosomal dominant cancer predisposition leading to an estimated incidence of 3000-4000 new cancer diagnoses of colorectal and endometrial cancer in Germany per year. The underlying hereditary condition is largely underestimated and underrecognized by physicians. The usually young at-risk population, feeling insecure about their personal risk assessment, seeks information online. The aim of this study was to evaluate whether this online risk assessment tool for identification of increased risk for hereditary cancer predisposition reaches the target population and whether it succeeds in positively influencing intensified screening compliance.


METHODS
The underlying algorithm for the test is based on the Bethesda and Amsterdam criteria and recent literature on polyposis syndromes. In the context of interrogating family and personal history, a total of five risk categories were defined. In addition to the cancers as defined in the above mentioned criteria, precursor lesions (polyps) were integrated into the risk estimate. Prior to launching, the algorithm was validated in family pedigrees of 102 mutation carriers with identified MLH-1 or MSH-2 mutations.


RESULTS
During the time interval analysed, which was between October 2008 and April 2011 a total of 656 participants were included. Among these 19.1 % (125/656) belonged to the target population at increased familial or hereditary risk. 72.8 % (91/125) were yet healthy with known cancer-affected relatives. Merely 34.4 % (11/32) of the high-risk population were currently participating in a risk adjusted screening program. After completion of the online test 62.5 % (20/32) felt motivated to reconsider and adjust accordingly with increased surveillance. The test received an overall "good" evaluation (83 %) based on handling, performance and information content.


CONCLUSIONS
This online risk-assessment tool was mainly completed by healthy (not cancer-affected) individuals with an increased risk for familial or hereditary colorectal cancer predisposition. The family pedigrees were comparable to these of known mutation carriers. The at-risk population was positively motivated to intensify screening strategies and the test received an overall positive evaluation.
HELIOS St. Josefs-Hospital, Klinik für Allgemein- und Visceralchirurgie, Bochum-Linden.
K
K
Schürmanns
HELIOS St. Josefs-Hospital, Klinik für Allgemein- und Visceralchirurgie, Bochum-Linden.
M
M
Gelos
HELIOS St. Josefs-Hospital, Klinik für Allgemein- und Visceralchirurgie, Bochum-Linden.
G
G
Felder
Klinik für Visceral-, Thorax- und Gefäßchirurgie; Philipps Universität, Marburg.
R
R
Schneider
HELIOS St. Josefs-Hospital, Klinik für Allgemein- und Visceralchirurgie, Bochum-Linden.
G
G
Möslein
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control*; D000465:Algorithms; D003113:Colonoscopy; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control*; D003936:Diagnosis, Computer-Assisted; D055088:Early Detection of Cancer; D042241:Early Diagnosis; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D005858:Germany; D006801:Humans; D008297:Male; D000070957:MutL Protein Homolog 1; D000070956:MutL Proteins; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010342:Patient Acceptance of Health Care; D010349:Patient Compliance; D010375:Pedigree; D018570:Risk Assessment; D011795:Surveys and Questionnaires
D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C088996:PMS1 protein, human; D000070957:MutL Protein Homolog 1; D000070956:MutL Proteins