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Using AI to Reduce Racial and Ethnic Disparities in AATD Diagnosis

This scientific poster presents the development and validation of a machine-learning model that identifies likely undiagnosed patients with Alpha-1 Antitrypsin Deficiency (AATD) from large-scale US claims data. The analysis reveals major disparities in diagnosis rates across racial and ethnic groups, especially for Black, Hispanic, and Asian or Pacific Islander populations.

Key findings include:

  • Underdiagnosis of AATD in non-White populations compared to US demographic benchmarks

  • Earlier detection of AATD among flagged patients vs. diagnosed ones (median age difference >10 years)

  • AI model performance with 0.90 precision in predicting likely AATD cases

  • High prevalence of asthma and respiratory comorbidities in likely undiagnosed patients

Clinical Development
Medical  Affairs
Strategic Pharma Impact

Accelerate early identification

Our model flags likely undiagnosed AATD patients up to 10 years earlier than traditional methods. This enables earlier cohort selection and reduces bias in trial populations.

  • Enhance cohort diversity and reduce screening failures
  • Improve recruitment timelines and eligibility accuracy
  • Identify real-world gaps in diagnostic coverage

Support equitable communication

The model reveals gaps in diagnostic access across race and ethnicity, empowering your team with validated, stratified insights to shape impactful narratives.

  • Highlight disparities with real-world AATD data
  • Back education campaigns with clinical evidence
  • Promote access equity across underdiagnosed populations

Bridge market and access gaps

By identifying patients otherwise overlooked, your commercial and strategy teams can build more inclusive and effective campaigns.

  • Unlock hidden segments within diverse populations
  • Drive precision targeting for under-addressed needs
  • Quantify missed opportunities using prediction models
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Why It Matters

Underdiagnosed patients from underrepresented groups not only delay trial timeline they skew scientific assumptions, treatment patterns, and medical strategy.

By identifying these patients earlier, pharma teams can:

  • Enhance cohort diversity for clinical development

  • Strengthen evidence used in medical affairs communication

  • Refine disease understanding for future pipeline opportunities

Improve Clinical Precision with Better Patient Identification

Current diagnostic models often overlook underrepresented patients especially in rare diseases like AATD. This gap skews patient cohorts, delays diagnosis, and risks compromising trial validity.

VOLV helps pharmaceutical teams surface high-risk, likely undiagnosed patients through advanced AI analysis of real-world data.

  • For Clinical Development: Increase cohort diversity and accelerate trial recruitment

  • For Medical Affairs: Improve scientific storytelling with stronger epidemiological insights

  • For Strategic Pharma Leaders: Build smarter pipelines by uncovering overlooked populations

Black and white photo of a man with curly hair and a patterned shirt, smiling slightly while standing outdoors with trees and soft lights in the background.

What the Model Uncovered

  • 16,431 likely undiagnosed AATD patients identified

  • 48% of flagged patients were non-White

  • Median age at flagging: 10 years younger than diagnosed patients

  • Significant underrepresentation of Black, Hispanic, and Asian populations in current diagnosed cohorts

  • Higher asthma prevalence in undiagnosed flagged patients

  • +42% earlier identification compared to traditional approaches

Portrait of an older man with a beard, resting his face on his hand, black and white photo

Better diagnosis starts with better data

Learn how AI-powered patient identification can reveal gaps in current diagnostic pipelines — especially for underdiagnosed populations across racial and ethnic groups.

Why it matters for your team:

  • Uncovers diagnostic disparities that could skew trial populations

  • Improves representation of real-world patients, including underserved groups

  • Informs evidence generation and medical strategy

  • Provides actionable insights for more equitable trial design

Let’s discuss how these findings might align with your strategic priorities — we’ll then share the full poster and potential applications​

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