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Abstract:
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With recent rapid development in molecular and genetic technology, the applications of genetic testing span medical disciplines, including: newborn screening for highly penetrant disorders; diagnostic and carrier testing for inherited disorders; risk prediction testing for complex disorders; and pharmacogenetic testing to guide individual therapeutic management. More recently, Next Generation Sequencing (NGS) of the human genome creates the possibility for scientists to develop tools to transform the precision medicine from an idea to a practice. However, despite extraordinary advances that have been made to date in medical fields, major clinical and analytical challenges of NGS based tests have emerged, ranging from the validation of large numbers of genetic variation in a patient, to managing the huge amount of data that accompany a single sequenced genome. In this talk, I will discuss the statistical issues and explore the regulatory pathways in both the clinical and analytical validation studies for sequencing based- genetic tests.
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