Explainable deep learning for disease activity prediction in chronic inflammatory joint diseases

Abstract

Analysing complex diseases such as chronic inflammatory joint diseases (CIJDs), where many factors influence the disease evolution over time, is a challenging task. CIJDs are rheumatic diseases that cause the immune system to attack healthy organs, mainly the joints. Different environmental, genetic and demographic factors affect disease development and progression. The Swiss Clinical Quality Management in Rheumatic Diseases (SCQM) Foundation maintains a national database of CIJDs documenting the disease management over time for 19’267 patients. We propose the Disease Activity Score Network (DAS-Net), an explainable multi-task learning model trained on patients’ data with different arthritis subtypes, transforming longitudinal patient journeys into comparable representations and predicting multiple disease activity scores. First, we built a modular model composed of feed-forward neural networks, long short-term memory networks and attention layers to process the heterogeneous patient histories and predict future disease activity. Second, we investigated the utility of the model’s computed patient representations (latent embeddings) to identify patients with similar disease progression. Third, we enhanced the explainability of our model by analysing the impact of different patient characteristics on disease progression and contrasted our model outcomes with medical expert knowledge. To this end, we explored multiple feature attribution methods including SHAP, attention attribution and feature weighting using case-based similarity. Our model outperforms non-temporal neural network, tree-based, and naive static baselines in predicting future disease activity scores. To identify similar patients, a k-nearest neighbours regression algorithm applied to the model’s computed latent representations outperforms baseline strategies that use raw input features representation.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

Yes

Author Declarations

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

Not Applicable

The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

N/A

I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals.

Not Applicable

I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).

Not Applicable

I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable.

Not Applicable

Data Availability

Data are owned by a third party, the Swiss Clinical Quality Management in Rheumatic Diseases (SCQM) foundation and may be obtained after approval and permission from SCQM.

https://www.scqm.ch/

留言 (0)

沒有登入
gif