Toward Best Practice in Using Molecular Diagnosis to Guide Medical Management, Are We There Yet?

Xuezhong Liu, Anne Chun-Hui Tsai


Molecular genetics testing has made several huge breakthroughs in the past two decades and many molecular technologies have been applied to our daily medical progress. However, the clinical utility has not reach a consensus by the medical and genetic peers as well as third party payers. The predictive value and clinical applications are variable from one condition to the other. Numerous questions remain including technology deficits, data interpretation and unpredicted phenotypes in complex disorders. In this commentary, the authors reviewed the historical perspective of genetic testing and summarized the current technical deficit, clinical dilemma and suggested a few critical threshold to overcome before the implementation of useful genetic information in standard health care can become a reality. 


clinical genetics, effective molecular genetic testing, predictive power, panel analysis, exome, next generation re-sequencing, clinical application

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