Clinical Actionability in Genomic Medicine

April 1, 2015
Clinical Actionability in Genomic Medicine
It will be absolutely essential for doctors to explain to their patients why some types of genomic information might be clinically actionable while other kinds are inconsequential. [© Science Photo/Fotolia]

Jeffrey S. Buguliskis, Ph.D.

It seems every week that a new publication extols the benefits of next-generation sequencing (NGS), often from sequencing the genome of a medically relevant organism in record time or identifying the polymorphisms that may lead to drug resistance in cancer. One could make an educated guess that NGS is poised to tackle almost any clinical issue facing precision medicine. But what about the glut of genomic data that is unavoidably generated from patient samples with each sequencing event? Is there relevant data from those samples that is clinically actionable, disparate from the initial clinical presentation? These are some of the current questions that physicians and clinical researchers will have to face as they foray into the personal genomics era.

With the ever increasing availability of direct-to-consumer genetic testing, coupled with the accelerated fall in costs for whole-genome and exome sequencing (WGS and WES), the opportunity for individuals to analyze their own genomic data and take greater control of their healthcare decisions will be abundant. Patients will want to know what genomic biomarkers are and how they are relevant to everyday health or their current medical condition.

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