The New Era of Whole Exome Sequencing


For example, researchers at the meeting reported on a prospective clinical trial to evaluate how NGS technology might guide cancer therapy (A.M.K. Brown et al., ASHG abstract #135). Thus far, they have recruited more than 90 patients with metastatic cancer. The patient’s tumor is analyzed for mutations that would make them eligible for targeted chemotherapy agents. More than 30% were determined by an expert review panel to have a mutation in their tumor that was determined to be "actionable" with regard to therapy. Early treatment responses are promising, but further follow-up and future trials will be needed before this becomes the standard of care.

Whole exome sequencing and NGS are certainly exciting, but challenges remain, including the standardization of validation and quality control, the sharing of data, and the mechanisms by which we return results. Finally, what result should be reported back to the physician and then to the patient remains a debated topic. Should we report everything, or limit reports to a specific subset of genes?

After all, we will "find something" with NGS technology – but as a medical community, we need to determine how this will impact our patients.

Dr. Hulick is a medical geneticist at NorthShore University HealthSystem, Evanston, Ill., and a clinician educator at the University of Chicago Pritzker School of Medicine. He reported having no conflicts of interest.

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