Some experts have questioned whether genome and exome sequencing is ready for broad application-or more precisely, whether the medical community is well enough versed in genetics to recognize the strengths and weaknesses of the testing.
The authors note that, ready or not, the technology is here, and physicians are ordering genome and exome sequencing for their patients and use will only increase.
To help physicians make the most of genome and exome sequencing, the authors offer numerous insights into how clinicians should order tests, interpret the results, and communicate the results to patients.
Even in these cases, exome sequencing may still be useful because it can end an expensive and potentially invasive and stressful diagnostic odyssey.
DON’T Ignore the Limitations of the Sequencing Technologies: Whole-genome sequencing, whole-exome sequencing-they sound comprehensive, don’t they? But so-called whole-genome sequencing doesn’t cover 100% of the genome, any more than whole-exome sequencing covers 100% of the exome.
Physicians should carry out an extensive literature search before ordering exome sequencing.
The authors acknowledged that sequencing has been hailed as an important tool in the implementation of predictive and individualized medicine, and that there is intense research interest in the clinical benefits and risks of sequencing for screening healthy persons.