NEW YORK (GenomeWeb) – The cost of a somatic targeted next-generation sequencing panel is an average €607 ($754), according to a new study.
Researchers in France set out to gauge whether next-generation sequencing tests can be affordable in a clinical setting. INSERM's Patricia Marino and her colleagues traced how much 15 French genetic laboratories spent on each step of the testing process, for both somatic and germline panel testing. As they reported this week in the European Journal of Human Genetics, the researchers found that consumables are generally the main driver of testing costs.
"This work is a first step to provide an input for future cost-effectiveness analyses," Marino and her colleagues wrote.
For their study, the researchers observed the French labs between March 2014 and November 2015 and calculated the productions costs for the overall testing process, from the pre-analytical phase, to sequencing, technical, and biological validation. At each step, they identified the resources used, such as personnel, consumables, and equipment. They determined the cost of each resource, whether by the real unit purchase prices of the consumables or by the hours worked by personnel. They also included in their analysis other, nonspecific costs, such as time needed to train personnel, overhead costs, and more.
Using all this, Marino and her colleagues estimated that the total cost of testing ran between €376 and €968 per patient for somatic testing, while germline testing ranged between €322 and €727. Consumables such as reagents largely drove the cost of sequencing tests, according to their analysis. For somatic testing, consumables represented 48 percent of the cost, while they represented 41 percent of the cost of germline genetic testing.
The enrichment step of the testing process is the most expensive, owing to its reliance on consumables, followed by sequencing itself, which also uses a number of consumables, the researchers found.
If the cost of consumables were to drop by 25 percent, the researchers estimated that the cost of a somatic next-generation sequencing test would go down by about 15 percent and the cost of germline testing would go down by about 13 percent.
Overhead costs and other expenses not directly related to sequencing — such as research and development — account for about 30 percent of the cost for both test types. Labor drove 14 percent and 18 percent of the cost for somatic and germline testing, respectively.
A 25 percent decline in wages for lab workers would only decrease the average cost of testing by 7 percent for somatic and 5 percent for germline testing, the researchers noted. However, they added, labor costs are expected to rise significantly as more time is spent on analyzing and interpreting results, while consumable and equipment costs may drop due to the economies of scale and competition.
Marino and her colleagues noted that their analysis was limited to hotspot mutations for somatic panels and validated genes for germline panels, and added that the addition of additional targets would likely increase the cost.
"Beyond cost assessment considerations, the diffusion of these new sequencing technologies will raise questions about their efficiency when compared to more targeted approaches, and their added value in a context of routine diagnosis," they added.