Finding people with possible undiagnosed conditions in medical records

Statistical Methods for Addressing Disease Under-diagnosis Using Electronic Health Record Data

['FUNDING_R01'] · UNIVERSITY OF PENNSYLVANIA · NIH-11182567

This project will use electronic health records plus targeted screenings to find people who may have a disease but haven't yet received a diagnosis.

Quick facts

Phase['FUNDING_R01']
Study typeNih_funding
SexAll
SponsorUNIVERSITY OF PENNSYLVANIA (nih funded)
Locations1 site (PHILADELPHIA, UNITED STATES)
Trial IDNIH-11182567 on ClinicalTrials.gov

What this research studies

This work will mine electronic health records to spot patterns shared by diagnosed and potentially under-diagnosed patients. Researchers will add labels from small, targeted screenings and use those to train statistical and machine-learning tools. The team will build software that ranks patients by likelihood of a missed diagnosis and compares diagnosed versus missed groups to identify disparities. They plan to test these methods within participating health systems and make the tools available for other hospitals to use.

Who could benefit from this research

Good fit: Ideal candidates are patients whose medical records are held by participating health systems and who have signs in their EHR suggesting a possible but unconfirmed condition and are willing to undergo targeted screening or share their records.

Not a fit: People who do not receive care within participating systems, lack relevant EHR data, or whose health issues are unrelated to the targeted conditions are unlikely to benefit directly.

Why it matters

Potential benefit: If successful, these methods could help identify people with treatable conditions who were previously missed, reducing disparities in care.

How similar studies have performed: EHR-based algorithms and phenotyping have previously helped find missed cases, but combining small-scale targeted screening with new statistical methods to specifically address under-diagnosis and disparities is a newer approach.

Where this research is happening

PHILADELPHIA, UNITED STATES

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.

View on NIH RePORTER →

Conditions: Disease, Disorder

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.