These results suggest that development, validation, and implementation of automated prediction scoring systems can be useful to aid providers in identifying patients with rare genetic conditions.
Background: Hereditary angioedema (HAE) is a genetic condition characterized by dysregulation of the contact (kallikrein-bradykinin) pathway leading to recurrent episodes of angioedema. Objective: This project sought to determine if a suspicion index screening tool using electronic health record (EHR) data can identify patients with an increased likelihood of a Hereditary Angioedema (HAE) diagnosis. Methods: A suspicion index screening tool for HAE was created and validated using known cases of HAE from the medical literature as well as positive and negative controls from HAE-focused centers. Using key features of medical and family history, a series of logistic regression models for five known genetic causes of HAE were created. Top variables populated the digital suspicion scoring system and were run against de-identified EHR data. Patients were categorized as increased, possible, or no increased risk of HAE at two diverse sites. Results: Prediction scoring using the strongest 13 variables on the “real world” EHR positive control data identified all but one C1-inhibitor deficiency case and one non-C1-inhibitor deficiency case without false positives. The two missed cases had no documented family history of HAE in their EHR. When the prediction scoring variables were expanded to 25 variables the screening algorithm approached 100% sensitivity/specificity. The 25 variable algorithm run on general population EHR data identified 26 patients as increased risk for HAE at the medical centers. Conclusions: These results suggest that development, validation, and implementation of suspicion index screening tools can be useful to aid providers in identifying patients with rare genetic conditions.
| Publication: | The Journal of Allergy and Clinical Immunology |
| Author(s): | Marissa Shams, MD, Dawn A. Laney, MS, Dave A. Jacob, BS, Jingjing Yang, PhD, Jessica Dronen, MS, Amanda Logue, MD, Ami Rosen, MS, Marc Riedl, MD |
| Affiliation(s): | Emory School of Medicine, Atlanta, Ga, ThinkGenetic Foundation, Sudbury, Mass, ThinkGenetic, Inc, Lafayette, La, Ochsner Lafayette General, Lafayette, La, University of California, San Diego, Calif |
| DOI: | 10.1016/j.jacig.2022.08.009 |
| Link: | https://www.jaci-global.org/article/S2772-8293(22)00092-3/fulltext |
| Citations: | Shams, Marissa & Laney, Dawn & Jacob, Dave & Yang, Jingjing & Dronen, Jessica & Logue, Amanda & Rosen, Ami & Riedl, Marc. (2022). Validation of a Suspicion Index to Identify Patients At-risk for Hereditary Angioedema. Journal of Allergy and Clinical Immunology: Global. 10.1016/j.jacig.2022.08.009. |
