The FDA’s recent de novo authorization of the first and only whole exome sequencing platform has the potential to accelerate the integration of genomics into clinical care.
The field of genomics has seen significant research advancements over the nearly two decades since the first human genome was sequenced. Translating those advancements into progress in the clinic, however, has not been as rapid. While there are numerous reasons for this, including overly narrow medical guidelines1 and limited reimbursement, the “one sample, one test” approach that is so common across the diagnostics industry has played a role as well. Most biological datasets are dynamic and need to be re-evaluated on a regular basis so the “one sample, one test” model makes sense for many areas of diagnostics – lipid panels, CBCs, HbA1c, to name a few.
Germline genetics (the DNA you are born with), however, does not fit this mold. As the only biological dataset that does not change over time, it enables a different, more efficient model where a robust, high quality genomic dataset can be generated once in a patient’s lifetime and used multiple times over the course of clinical care. Helix refers to this as a Sequence Once, Query Often™ model. Over time, this dataset can be used to assess a patient’s risk for certain diseases, understand what conditions a parent might pass down to future children, or to determine what medications work best for an individual.