The latest issue of Science contains an interesting and lengthy article on how Geisinger are trying to integrate genomic screening into routine care in Pennsylvania, USA. Although this is an exciting area of research, and the business model surrounding these innovative approaches to genomic sequencing is quite interesting, I have a number of reservations about the cost-effectiveness of population-wide genomic screening.
Encouragingly, the article author engaged with a number of individuals with expertise in health economics and genomics whilst writing this piece, including David Veenstra at the University of Washington, Glenn Palomaki at Brown University, and me. Unfortunately my contribution was considerably shortened in the final version of the article. I’ve attached my contribution as it appeared in an earlier draft of the article below, and would be very keen to hear the thoughts of others on this topic.
There is still not enough data to determine whether sequencing the genomes or exomes of a low risk population to identify disease-linked variations, as Geisinger is doing, is worth the expense, says health economist James Buchanan of the University of Oxford.
“To determine whether population-wide sequencing is cost-effective, we need to consider two things: how much sequencing increases costs in the healthcare system and whether population health improves sufficiently to offset these cost increases”, says Buchanan. Health economists commonly measure changes in population health using “quality-adjusted life-years” (QALYs), economist lingo for a year of perfect health. The current consensus in the US is that healthcare interventions that add a QALY to a person’s lifespan for less than $100,000 are cost-effective. However, Buchanan identifies three key reasons why it is difficult to say that population-wide sequencing falls under this cost-effectiveness threshold.
“First, the cost-effectiveness of sequencing will vary considerably depending on which disease-linked variations scientists are trying to identify. The cost-effectiveness of sequencing a population to identify individuals with a higher risk of developing cardiovascular disease is very different to the cost-effectiveness of identifying variations linked to cancer or rare diseases. The lack of consensus regarding which disease-linked variations to prioritise makes it difficult to determine whether sequencing is cost-effective overall”.
“Second, we do not know with any certainty what population-wide sequencing costs. There is little actual data on the cost of sequencing a genome or exome in the literature, but the consensus is that this is now in the low thousands of dollars per test. However, the cost of sequencing a genome or exome is a small part of the overall cost of sequencing. The costs associated with analysing the sequencing data – bioinformatics – remain high, and the costs associated with medical follow-up (preventative screening, surgery, high cost drugs tailored to the specific genetic mutation, and in some cases, a lifetime of behavioral and lifestyle changes) can far outweigh the costs of conducting the initial test.”
“Finally, we know very little about the health consequences of population-wide sequencing. We still need to do a lot of work before we can be confident that identifying disease-linked variations has a significant impact on the life expectancy and quality of life of a low-risk population. The collection of long-term data linking sequencing results with patient health records will help to address this issue”.