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Updated: May 21, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genotypic testing in clinically defined HHT: would Osler approve or turn in his grave?
R Kettritz1, C Hinrichs, C E Althoff
1Nephrology Department and Experimental and Clinical Research Center, Faculty of Charite and Max-Delbrück Center for Molecular Medicine, Berlin, Germany. kettritz@charite.de
Summary
Genetic testing offers precise diagnoses but faces cost challenges. Sir William Osler
Area of Science:
- Medical Diagnostics
- Genetics
- Clinical Medicine
Background:
- Modern diagnostics present challenges, particularly regarding the justification of precise genetic diagnoses amidst cost-cutting measures.
- The historical perspective of Sir William Osler, a renowned clinician and translator of science, is invoked to explore this issue.
Observation:
- A patient case study is presented that mirrors Sir William Osler's emphasis on clinical exactness.
- This case prompts reflection on whether Osler would have advocated for or required genetic testing.
Findings:
- The core question is the justification of genetic testing in contemporary healthcare, balancing diagnostic precision with economic constraints.
- The patient's condition served as a catalyst for re-evaluating the value of genetic information in clinical decision-making, irrespective of cost.
Implications:
- This discussion encourages a re-evaluation of diagnostic priorities, emphasizing clinical utility over economic considerations.
- It highlights the enduring relevance of Oslerian principles in modern medical practice, particularly concerning the pursuit of definitive diagnoses.
- The findings suggest that the pursuit of clinical exactness, potentially through genetic testing, remains a critical aim in patient care.
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