Abstract
Chris Anderson, Editor in Chief
Recent research published from the MedSeq Project, which is examining the effects on health costs and health outcomes, has shown encouraging results that suggests providing these tests to both healthy people and to cardiology patients may not increase downstream costs and healthcare utilization—at least in the six-month window data was available for these cohorts.
But let’s not kid ourselves into thinking that the broad use of whole-genome, or whole-exome sequencing for all patients is right around the corner. There simply is no indication that healthcare systems, or individual doctors and other health providers are ready or equipped to make meaningful use of these data to guide health and wellness decisions.
There are a number of hurdles standing in the way of this broad application of genomic medicine.
First is the issue of data integration with electronic medical records. It’s no secret EMR vendors’ systems are not good at data integration. HL7 efforts to encourage adoption of the FHIR data standard may help solve this problem to an extent, but then there is an additional problem: EMRs were primarily designed to help with insurance coding, not as a comprehensive picture of a patient’s health. Both need significant work to accommodate genomic data.
Second, most health systems, hospitals and care providers are not up to speed on what might be actionable information in a patient’s genome, or even whether a variant that indicates an elevated risk of a specific disease is worth addressing. The folks at the National Association of Genetic Counselors will say this is an appropriate role for their members, and they’d be right, but there just aren’t enough genetic counselors in this country to handle such broad use of genomics in healthcare.
And finally, there is the question of who will pay for the testing. The Med-Seq Project cited sequencing costs of $5,000 per genome. Granted, the cost of whole-genome sequencing has decreased since the time of the tests in this pilot study. But despite a broad belief this would be a one-time cost that could pay dividends for a lifetime, no payers in this country, public or private, are showing any willingness to take on this cost without more proof of value.
Which is exactly why projects like MedSeq, or the work at health systems like Sanford in North Dakota and Geisinger in Pennsylvania, or the 100,000 Genomes Project in the U.K.—which has a stated goal of applying genomics within the NHS—are so vital. MedSeq measured downstream costs for six months and have consented many in the study to be followed for five years. Now, BabySeq will begin tracking and measuring the value of providing sequencing from the very beginning of life. It’s data from these sources that will help advance genomics as normal and routine in healthcare.
The time is coming. It’s just not time yet.