Genotypic testing in clinically defined HHT: would Osler approve or turn in his grave?
Modern diagnostic possibilities pose a number of challenges. When is a precise genetic diagnosis justifiable in today's climate of cost-cutting? We would like to pose that question to Sir William Osler. Sir William was a keen observer, a master 'translator' of science into clinical medicine. Would he have required or supported genetic testing? We treated a patient whose case reminded us of Sir  William's belief that clinical exactness was the ultimate aim, regardless of cost.
Nephrology Department and Experimental and Clinical Research Center, Faculty of Charite and Max-Delbrück Center for Molecular Medicine, Berlin, Germany. kettritz@charite.de
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D000368:Aged; D003362:Cost-Benefit Analysis; D005260:Female; D005820:Genetic Testing / Q000191:economics / Q000379:methods*; D006801:Humans; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000191:economics / Q000235:genetics*