Pharmacogenomics is ripe for local testing

August 31, 18
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CERYX - Read time: 2 minutes, 10 seconds

What’s happening?

This week Thermo Fisher distributed a white paper on Pharmacogenomics (PGx), and last week GenomeWeb reported on efforts by several groups to standardize PGx, to facilitate adoption.

The white paper proclaims “Pharmacogenetics is the future of health care” and has the potential to improve clinical outcomes as well as provide financial value of the system. On the other side, the GenomeWeb articles cites lack of standardization by different clinical guidelines development bodies as an important barrier for wider adoption.


What do we make of it?

PGx has a huge potential. Thermo Fisher provides strong evidence of the potential of PGx:

  • There are “over 130 medications whose selection, use, and dosing are improved by knowing a patient’s genetic makeup”


  • “An estimated that 6.7% of hospitalized patients will have a major adverse drug event, likely accounting for >100,000 deaths per year”. And that “(…) 34% of all potential major adverse drug interactions were caused by the patient’s genetics rather than drug–drug interactions”


  • “Clinical response rose from 36% to 73% and remission rose from 13% to 35% for severely depressed patients when pharmacogenetics was implemented”

On the other hand, labs offering PGx testing need to grapple with (1) turnaround time, (2) labor and per-sample costs, and (3) implementation issues such as interpretation, content scope, and technology choices.


 Why do we find it interesting?

 For the industry

This is another example of precision medicine slowly but surely impacting patient care. Companion diagnostics are becoming standard practice in oncology indications as regulatory approval requires patient stratification, now payers are starting to tie payment to drug efficacy. The pharma industry should take notice and think strategically about the role of Diagnostics in their business models.

Despite its potential, the uptake of PGx (and other precision medicine applications) collides with technology and implementation issues. For example, in PGx there is a lot of interest in complex NGS applications, but fundamental issues such as turnaround time, costs and clinical utility are still an issue.

At BioCeryx, we believe that as healthcare delivery institutions and pharma realize the potential of PGx, these institutions will be looking to efficient, effective and accurate solutions.

The bigger picture

Despite our passion for technology, technology alone doesn’t deliver clinical value. At BioCeryx we have developed the following framework to think about the essential elements for a test to be broadly adopted. PGx has demonstrated clinical utility and cost effectiveness, and, as evidenced by the Genomeweb article, standardization should facilitate broader adoption. PGx is ripe for a technology that allows for local testing, because as the white paper concludes “the full benefits of pharmacogenetics cannot be realized if testing capabilities exist only in reference laboratories.”