You say genomics and i say genetics

Abstract

Many articles in academic and lay publications have predicted that massively parallel whole genome sequencing (NGS) will quickly replace all molecular testing modalities currently in place. These pundits ignore some of the major obstacles that will be necessary to overcome before NGS becomes a routine part of molecular testing. These include issues of accuracy (sensitivity and speci-ficity), pseudogenes, variants of unknown clinical significance, post-translational modifications, informatics, repeat expansion diseases, gene conversions, cost, through-put, sequence assembly, platform stability, reimbursement, reporting, consenting, and regulatory (USA). Subsequently I will review the current offerings of exome sequencing and more limited gene panels performed by advanced sequencing currently that are offered in US laboratories and reagent manufacturers for heritable conditions and cancer. This presentation will examine each of these issues in detail to provide the attendee with knowledge that will aid him or her in evaluating potential opportunities in this field.