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Original research
Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy
  1. Brandie Heald,
  2. Emma Keel,
  3. Jessica Marquard,
  4. Carol A Burke,
  5. Matthew F Kalady,
  6. James M Church,
  7. David Liska,
  8. Gautam Mankaney,
  9. Karen Hurley,
  10. Charis Eng
  1. Cleveland Clinic, Cleveland, Ohio, USA
  1. Correspondence to Brandie Heald, Cleveland Clinic, Cleveland, OH 44195-5243, USA; leachb{at}


Background Hereditary colorectal cancer (HCRC) syndromes account for 10% of colorectal cancers but remain underdiagnosed. This feasibility project tested the utility of an artificial intelligence-based chatbot deployed to patients scheduled for colonoscopy to identify HCRC risk factors, educate participants about HCRC and obtain consent to genetic testing as an extension of genetic counselling of appropriate subjects. Genetic counsellor (GC) and genetic counselling assistant (GCA) time spent per subject was also measured.

Methods Patients scheduled for colonoscopy at Cleveland Clinic were invited via electronic medical record patient portal or letter prior to colonoscopy with a link to a chatbot administering the Colon Cancer Risk Assessment Tool (CCRAT) to screen for HCRC syndromes. Those with ≥1 positive response to a CCRAT question received chatbot-deployed genetic education and the option to receive genetic testing. An order for a 55-gene pan-cancer panel was placed for those consenting, and the subject had blood drawn on the day of colonoscopy. Results were disclosed by a GC or GCA by telephone. Subject demographics, progression through the chat, responses to CCRAT, personal and family history, genetic test results and communication with the subject were recorded. Descriptive statistics and two-tailed unpaired t-test and Fisher’s exact test were used.

Results 506/4254 (11.9%) initiated and 487 (96.2%) completed the chat with the chatbot. 215 (44.1%) answered ‘yes’ to ≥1 CCRAT question and all completed pretest education. 129/181 (71.3%) subjects who consented completed testing, and 12 (9.3%) were found to have a germline pathogenic variant. Per subject, the GC spent a mean of 14.3 (SD 7.3) and the GCA a mean of 19.2 (SD 9.8) minutes.

Conclusion The use of a chatbot in this setting was a novel and feasible method, with the potential of increasing genetic screening and testing in individuals at risk of HCRC syndromes.

  • genetic counseling
  • genetic testing

Data availability statement

Data are available upon reasonable request. Please contact

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Data availability statement

Data are available upon reasonable request. Please contact

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  • Contributors BH had substantial contribution to concept/design, data acquisition, data analysis, data interpretation, drafting and final approval of the manuscript. EK had substantial contribution to data acquisition, drafting and final approval of the manuscript. JM had substantial contribution to concept/design, data acquisition, drafting of manuscript, and final approval of the manuscript. CAB had substantial contribution to concept/design, data interpretation, drafting and final approval of the manuscript. MFK, JMC, DL, GM, KH and CE had substantial contribution to concept/design, drafting and final approval of the manuscript.

  • Funding The use of the chatbot was provided in kind by Clear Genetics (now Invitae).

  • Map disclaimer The depiction of boundaries on this map does not imply the expression of any opinion whatsoever on the part of BMJ (or any member of its group) concerning the legal status of any country, territory, jurisdiction or area or of its authorities. This map is provided without any warranty of any kind, either express or implied.

  • Competing interests BH is on the advisory board for Invitae; CE is (pro bono) chief medical officer of Family Care Path, Inc, and of Covariance LLC/PlexSeq Diagnostics.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.