Creating a cost-effective Pharmacogenomics (PGx) testing program that balances the demand for personalized medicine and budget constraints is crucial. Laboratories must navigate high testing costs while maintaining quality and efficiency.
Dr. Vicky Pratt, PGx expert and world renowned thought leader, proposes five key considerations in this article to reduce PGx testing costs and establish a sustainable and economically viable PGx testing program. With these measures in place, cost-effective PGx testing is achievable. During her time leading and working with PGx laboratories, Dr. Pratt has identified the most common challenges that can drive testing costs two to three times higher than what was originally expected. By implementing the following practical strategies, laboratories can significantly reduce costs without compromising the accuracy and breadth of genetic information obtained.
A PGx panel should include known variants of actionable genes as recommended by leading societies and governing bodies. Different technologies can have very different costs depending on the number of variants in the panel. Does your current technology offer high multiplexing capabilities that result in a reasonable upfront price? How about the flexibility to easily add new variants to the panel when the supporting evidence and subsequent guidelines and recommendations are updated? Consider your options to help reduce the overall cost per sample.
Assay drop-out is a challenge for many PGx technologies. Failing assays result in incomplete genetic information that cannot be reported. To meet turnaround time (TAT) obligations, labs often run 2 replicates for every sample to ensure complete results on the first pass. Running multiple replicates effectively doubles the reagent cost per sample. If your current workflow requires multiple replicates per sample to account for testing failures, consider going in a different direction.
Paying for unused reagents is a quick way to increase costs. Remember that the vendor's cost per test assumes 100% reagent utilization. Most pre-filled cartridges and similar consumables can only be used once. If there aren't enough samples to fill the cartridge, the remaining reagent is wasted. This can be especially challenging in an environment with unpredictable run volumes. Fewer samples and higher-than-expected costs are a challenging combination to overcome. Does your lab wait until there is sufficient volume to batch samples? If you process a smaller number of samples, how much will you pay for unused reagents? Consider technologies that minimize waste when sample volumes don't match the optimal batch size.
Many PGx programs need genotyping and copy number variation (CNV) information to make their recommendations. Unfortunately, this often means using multiple platforms, which increases cost and impacts lab efficiency. Even if a single platform can perform both genotyping and CNV, it may still require separate workflows. Consolidating genotyping and copy number variation to a single process, run, and instrument can save precious time and money.
To get an accurate copy number call, some methods require 3-4 replicates per sample for every assay that is used. Given the importance of detecting CYP2D6 hybrid alleles, labs are testing 3 or more assays per sample to obtain broader gene coverage. That can mean running 12 replicates for every sample for copy number results alone. Consider choosing a technology that can accurately provide copy number data with one assay using a single replicate.
Explore the MassARRAY® System for PGx Testing
Agena’s PGx testing solutions deliver best-in-class accuracy and flexible panel content while minimizing testing costs. 基因分型和拷贝数检测的同时进行使实验室能够实施单一、全面的PGx测试工作流程。