Moving genomics from the bench to the bedside

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. 

Recently, the FDA granted Helix de novo authorization for the Helix^® Laboratory Platform (HLP), a whole exome sequencing platform covering approximately 20,000 genes. It is the first and only authorization of its kind. At the same time, the FDA also cleared the first test powered by the platform: the Helix^® Genetic Health Risk App for late-onset Alzheimer’s Disease. With this landmark authorization of both a platform and its first genetic risk test, a defined regulatory path now exists for the Sequence Once, Query Often model.

With this pathway, organizations are able to develop and clear additional genetic risk tests (such as for cancer, cardiovascular disease, and pharmacogenomics) using data generated from the Helix Laboratory Platform – in most cases, without needing to demonstrate additional analytical validity.

This authorization in combination with the Sequence Once, Query Often model means one sample can support many genetic risk tests. This in turn has the potential to lower costs, make clinical workflows more efficient, and make care more personalized. If a patient has already been sequenced on the platform, subsequent genetic risk tests are on-demand – meaning results are ready in hours or days, not weeks. This will also enable patient data to be portable and able to stay with a patient even if they switch providers or insurance plans.

It’s also future proofed. Because of the breadth of coverage of the platform (appproximately 20,000 genes), as new gene-disease associations are discovered, new tests are able to be cleared on and powered by the platform. One laboratory platform and one assay can take organizations from research through to commercialization – enabling health systems, life sciences companies, and payers to accelerate the advancement of genomic discoveries from bench to bedside.

Learn more at helix.com/FDA.
 

Helix is the leading population genomics company operating at the intersection of clinical care, research, and genomics. Its end-to-end platform enables health systems, life sciences companies, and payers to advance genomic research and accelerate the integration of genomic data into clinical care.