An interesting recent article in Genetic Engineering News describes the challenges of making sense of biomarkers of unknown relevance that surface from whole genome sequencing (WGS). Such biomarkers are becoming common enough that there is even a name for them: the “incidentalome,” (drawing on the “incidentaloma” concept from radiology, and perhaps first coined in a prescient JAMA article from 2006).
The rise of tumor boards at major research hospitals, which are panels of experts who collaborate to interpret cancer patients’ genomic data, attests to the challenges of making sense of incidental biomarker findings.
This interpretation bottleneck was also a major takeaway from the Personalized Medicine World Conference that took place in February of this year. One practitioner of clinical WGS stated that, while the costs of the actual sequencing are coming down, the major costs of clinical genomics lie in the analysis, and those costs are staying the same or even increasing as data volume increases.