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Utility and efficacy of TGFBI mutational analysis for disease detection

Evaluation of: Yoo SY, Kim D-O, Park TJ et al. Detection of the most common corneal dystrophies caused by BIGH3 gene point mutations using a multispot gold-capped nanoparticle array chip. Anal. Chem. 82(4), 1349–1357 (2009). Current knowledge of the genetic variation associated with TGFBI-associated corneal dystrophies has highlighted the possibility of de novo mutations, and also recurrence after refractive surgery in apparently asymptomatic individuals. This means that genetic testing for the most common variants is considered desirable, particularly in the refractive clinical setting. To be a useful clinical adjunct, however, genetic testing must be time and cost effective. Yoo and coworkers propose a nanoparticle microarray for rapid detection of TGFBI mutations. The advantages and limitations of these nanoparticle microarrays need to be compared with current methods of mutation detection. Clinicians should include genetic testing in the clinical work-up, and must consider the ethical principles of making a genetic diagnosis, as well as the marked variance in clinical presentation in this group of dystrophies.