Adding family history of colorectal cancer to the FIT-based screening program in a Dutch screening population sample

Transcription

1 Adding family history of colorectal cancer to the FIT-based screening program in a Dutch screening population sample Victorine H. Roos, Frank G.J. Kallenberg, Manon van der Vlugt, Evelien J.C. Bongers, Cora M. Aalfs, Patrick M.M. Bossuyt, Evelien Dekker

2 No Disclosures

3 Population based CRC screening in NL Early detection and treatment of advanced neoplasia reduces colorectal cancer (CRC) related morbidity and mortality 1-3 In NL: fecal immunochemical test (FIT) for CRC screening (FOB-Gold, cut-off 47µg/g) Invitation: years, biennially Sensitivity FIT is not perfect 4-6 CRC: 75-88% Advanced neoplasia: 28-38% To improve yield of the Dutch CRC screening program: 1. Adjusting cut-off levels for FIT 2. Apply risk stratification by adding other risk factors 1 Brenner Gastro 2014; 2 Doubeni Ann Intern Med 2013; 3 Nishihara NEJM 2013; 4 Chiu CGH 2013; 5 Lee Ann Intern Med 2014; 6 de Wijkerslooth Gastro 2012.

4 Familial risk for CRC False negative FIT more often occurs in individuals with a familial risk of CRC 1-2 Familial risk of CRC: Hereditary CRC syndrome Familial CRC syndrome Indication for colonoscopy surveillance instead of FIT screening Only 12 49% with a familial risk for CRC are referred for preventive measures 3 1 Cha Digestion 2012; 2 Ng Ali Pharm Ther 2013; 3 Dekker Colorect Dis 2013.

5 Aim To evaluate the yield of adding an online, validated, family history questionnaire for CRC to an organized FIT-based CRC screening program: 1) Diagnostic yield of the FIT-based CRC screening program Detection of advanced neoplasia relative to number of invitees, comparing: Strategy A (FIT screening) Strategy B (FIT and/ or family history questionnaire) 2) Yield of the family history questionnaire Identification of patients with a familial risk of CRC

6 Methods Design: prospective CRC population-based screening trial, April-November 2016 Inclusion criteria: 6000 screen naïve men and women Birth years 1941, 1945, 1953, 1955, 1957 Region of Amsterdam, representative for the Dutch CRC screening population +

7 Family History Questionnaire Invitation family history questionnaire was included in the pre-announcement of the FIT Family history questionnaire based on the Dutch guideline: Participant, first- and second degree relatives Type of cancer Age of onset Genetic testing Genetic testing performed Hereditary risk confirmed

8 Results: participation rate Participation rate Participation Family History Questionnaire No Participation Family History Questionnaire Participation FIT No Participation FIT

9 Results: yield screening program 5957 Invitees Strategy A Strategy B Participation rate 4331 (72%) Participation rate 4426 (74%) Positivity rate 234 (5%) Positivity rate 425 (10%) Colonoscopies 200 (86%) Colonoscopies 216 (51%) Advanced neoplasia 116 (58%) Advanced neoplasia 117 (54%) Diagnostic yield 19.5 per 1000 invitees Diagnostic yield 19.6 per 1000 invitees

10 Results: family history questionnaire Telephone check 191 Positive Questionnaire 125 Eligible for referral 65 Referral Clinical Geneticist 50 Underwent Genetic Counseling 29 Received preventive measures 30 Refused referral 1 Not reached 14 Underwent Colonoscopy 2 Underwent Colonoscopy

11 Results: genetic counseling Genetic Testing (and Colonoscopy Results) N=50 Lynch syndrome confirmed 1 (2%) Gene variants of unknown clinical significance 2 (4%) FCC confirmed Newly diagnosed With Serrated Polyposis Syndrome Previously diagnosed 26 (52%) 15 (30%) 1 (2%) 11 (22%) Hereditary CRC syndrome ruled out 31 (62%) Referral of family members for genetic testing 7 (14%) Refused genetic testing 3 (6%) No indication for genetic testing 6 (12%)

12 Conclusion Addition of an online, validated family history questionnaire to the Dutch FIT based screening program led to: 1. No added value for the detection of advanced neoplasia Only 1 case of advanced neoplasia in 16 extra colonoscopies per 5957 invitees 2. Identification of a few patients newly diagnosed familial risk of CRC

13 Discussion Yield of addition of the family history questionnaire was disappointing: 1. Diagnostic yield of the FIT-based CRC screening program Low uptake genetic counseling: 50/125 (40%) Refused referral Received preventive measures 2. Yield of the family history questionnaire Many false positive questionnaire results: 66/191 (35%)

14 The future 1. To improve the yield of the current strategy: Sensitivity questionnaire: simplifying questions regarding family history Referral rate to clinical geneticist: more personal approach Colonoscopy rate: consider risk stratification without intervention of clinical geneticist 2. To improve the yield of the FIT-based CRC screening program in general: Detection of advanced neoplasia: adding other risk factors besides familial risk of CRC

15 Thank you for your attention! Acknowledgements BOMW Sravasa Diemeer Maja Groothuis Erwin Humer Evelien Bongers LBO Else-Mariëtte van Heijningen Rebecca van der Kruijt Mieke Janssen Amsterdam UMC Frank Kallenberg Manon van der Vlugt Cora Aalfs Patrick Bossuyt Evelien Dekker MLDS Contact details: Victorine Roos

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17 Results: positivity rate Positivity rate Positive Family History Questionnaire Negative Family History Questionnaire Positive FIT Negative FIT

18 Results: Indications colonoscopy Indications for colonoscopy N=16 Lynch syndrome 1/1 Gene variants of unknown clinical significance 1/2 FCC confirmed Newly diagnosed With Serrated Polyposis Syndrome 11/15 1/11 Hereditary CRC syndrome ruled out, one time colonoscopy 1/31 Already received preventive measure, no surveillance 2/29

19 Results: detection rate Colonoscopy findings FIT Combined strategy P-value CRC 14/200 (7.0%) 14/216 (6.5%) 0.85 Advanced adenoma 102/200 (51.0%) 103/216 (47.7%) 0.56 Advanced neoplasia 116/200 (58.0%) 117/216 (54.2%) 0.49 Non-advanced lesions Non-advanced adenoma SSL + others 42/200 (21.0%) 18/200 (9.0%) 49/216 (22.7%) 21/216 (9.7%) No lesions 24/200 (12.0%) 29/216 (13.4%) 0.77