You are here

  • Home
  • Online First
  • Electronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes

Article Text

Article menu
Download PDFPDF
Cancer genetics
Original research
Electronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes
  1. Vinit Singh1,
  2. Thomas E Rafter2,
  3. Mohamad Sharbatji3,
  4. Jing Liu4,
  5. Quiana Brown2,
  6. Karina Brierley5,
  7. Claire Healy5,
  8. Rosa M Xicola6,
  9. Nitu M Kashyap7,
  10. Xavier Llor8
  1. 1Department of Medicine, Roswell Park Comprehensive Cancer Center, Buffalo, New York, USA
  2. 2Department of Medicine, Yale New Haven Health, New Haven, Connecticut, USA
  3. 3Department of Medicine, AdventHealth Main Campus, Orlando, Florida, USA
  4. 4Yale New Haven Health, New Haven, Connecticut, USA
  5. 5Yale New Haven Health Smilow Cancer Hospital, New Haven, Connecticut, USA
  6. 6Medicine, Yale University School of Medicine, New Haven, Connecticut, USA
  7. 7Department of Internal Medicine and Biomedical Informatics, Emory University, Atlanta, Georgia, USA
  8. 8Department of Medicine, Yale School of Medicine, New Haven, Connecticut, USA
  1. Correspondence to Dr Xavier Llor; xavier.llor{at}yale.edu

Abstract

Background Despite well-established criteria for genetic testing to rule out hereditary cancer syndromes (HCSs), most pathogenic variant (PV) carriers are not being tested. Thus, mechanisms that allow for better identification and a streamlined process for testing need to be implemented. The main purpose was to develop a self-updating, guideline-driven tool integrated with the electronic health record (EHR) to prospectively identify at-risk individuals and facilitate outreach and diagnosis.

Methods National Comprehensive Cancer Network/American College of Medical Genetics criteria for genetic testing were translated into three distinct rule-based conditional logic statements in the EHR from 218 rules that serially evaluate each aspect of individual criteria, which together roll up into a logic statement of ‘at-risk’. The rules evaluate personal or family history, determine age at onset and categorise family relationships. This tool is applied to a system-wide registry of active patients.

Results Out of 1 325 545 individuals, 59 377 (4.48%) were identified as at-risk and thus constitute the At-Risk Cancer Genetic Syndrome Identification (ARCAGEN-ID) registry. Of those, only 12 377 (20.9%) had previously been evaluated, and 2506 had a PV. ARCAGEN-ID appropriately included 96.2% of cases. ARCAGEN-ID individuals not previously evaluated were more often included based on family history criteria (79.8% vs 49.3%), and less often because of both personal and family history of cancer (13% vs 41%) (p<0.001).

Conclusions This study is the first to use an EHR-based registry for the automatic and prospective identification of individuals eligible for genetic testing based on current criteria for all major HCS. By streamlining the identification process, this approach has the potential to dramatically increase diagnostic rates and improve cancer-related survival.

  • Genetic Carrier Screening
  • Health Care Quality, Access, and Evaluation

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

https://doi.org/10.1136/jmg-2025-110718

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Data availability statement

    All data relevant to the study are included in the article or uploaded as supplementary information.

    View Full Text

    Footnotes

    • NMK and XL are joint senior authors.

    • Contributors Conceptualisation, supervision of the overall project and edition of the final manuscript draft: NMK and XL. Data curation: VS, MS, TER, QB, JL, KB and CH. Formal analysis: VS, RMX, XL. Validation, writing—original draft: VS, MS, NMK and XL. Writing—review and editing: VS, MS, TER, QB, JL, RMX, NMK, KB, CH and XL. All authors critically revised the manuscript for important intellectual content. They take full responsibility for the integrity of the data and the accuracy of the data analysis. XL is the guarantor.

    • Funding This work was supported by internal funds from the Yale Cancer Center (XL) Grant # 2P30CA016359-39 and the C Richard Boland fund (XL) (Grant # not applicable). The study sponsors had no role in the design of the study, in the collection, analysis or interpretation of the data, in the writing of the manuscript or in the decision to submit the manuscript for publication.

    • Competing interests None declared.

    • 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.