Clinical Case Reports as a Tool for Advancing Personalized Medicine: Is this real?

Personalized medicine recognizes that diseases manifest and respond to treatment differently in each patient. While large trials provide general evidence, they often miss real-world variability. Case reports, long considered low-level evidence, are vital for documenting rare diseases, atypical presentations, and unique therapeutic responses that inform individualized care. Historically, case reports have led to major discoveries, embracing variability to reveal new mechanisms. In rare diseases, each report can serve as an “N-of-1” study, while in common conditions they help identify unusual patterns, reduce misdiagnosis, and define subgroups needing tailored management. They also record exceptional responders, non-responders, and rare adverse effects, advancing pharmacogenomics. Despite their value, challenges include patient privacy, publication bias, and inconsistent quality, which require robust consent and adherence to CARE guidelines. Future integration into searchable databases and AI analysis could amplify their impact, confirming that case reports remain central to the precision medicine era.

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Publication Details

Journal
Brazilian Journal of Case Reports
Published
2025-08-09
DOI
https://doi.org/10.52600/2763-583x.bjcr.2026.6.1.bjcr108
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
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article

Clinical Case Reports as a Tool for Advancing Personalized Medicine: Is this real?

Howard Lopes Ribeiro
Brazilian Journal of Case Reports
Genomics and Rare Diseases
article

Clinical Case Reports as a Tool for Advancing Personalized Medicine: Is this real?

Howard Lopes Ribeiro
article en

Abstract

Personalized medicine recognizes that diseases manifest and respond to treatment differently in each patient. While large trials provide general evidence, they often miss real-world variability. Case reports, long considered low-level evidence, are vital for documenting rare diseases, atypical presentations, and unique therapeutic responses that inform individualized care. Historically, case reports have led to major discoveries, embracing variability to reveal new mechanisms. In rare diseases, each report can serve as an “N-of-1” study, while in common conditions they help identify unusual patterns, reduce misdiagnosis, and define subgroups needing tailored management. They also record exceptional responders, non-responders, and rare adverse effects, advancing pharmacogenomics. Despite their value, challenges include patient privacy, publication bias, and inconsistent quality, which require robust consent and adherence to CARE guidelines. Future integration into searchable databases and AI analysis could amplify their impact, confirming that case reports remain central to the precision medicine era.

Brazilian Journal of Case ReportsVol. 6(1)
Santa Casa Hospital (BR)
Openalex Percentile: Top 77%
Genomics and Rare Diseases
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