When it comes to the notion of providing whole-genome sequencing to healthy individuals, there are not one, but two elephants in the room: the cost of the sequencing and analysis itself; and whether people, newly armed with specific information about themselves and their own set of specific genetic variants, might increase downstream spending in the health system.
Mitigation of the first hurdle, the cost of sequencing, should take care of itself over time, as sequencing continues its precipitous, Moore’s Law–shattering, drop in price. And now, new research published by the MedSeq Project suggest that worries about significant increases in downstream costs may not be warranted. The research, “Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial,” published in Genetics in Medicine earlier this year tracked the costs associated with healthcare utilization of two 100-patient cohorts. The first was of 100 cardiology patients with cardiomyopathy diagnoses and the second was 100 healthy primary care patients. Each was randomized to receive a family-history report alone or a whole-genome sequencing (WGS) report. Examining the initial six months of healthcare utilization data, the researchers found “the short-term costs were driven primarily by the costs of sequencing, interpretation, and disclosure, and we did not find evidence that WGS increased downstream healthcare costs.”
Lead author of the study, Kurt Christensen, Ph.D., an instructor of medicine at Brigham and Women’s Hospital in Boston, said MedSeq is the first randomized clinical trial that is seeking to provide data on the clinical utility and value provided by WGS in a general healthcare setting, as opposed to disease-specific applications such as cancer or rare disease diagnoses.
“I think the more exciting applications [of WGS] are in these asymptomatic populations where you can really capitalize on the full capabilities of the genome,” Christensen said. “So not just providing information to diagnose a specific disease, but providing information that may prevent disease altogether, and inform not only medical decision making, but personal decision making also.”
Data from the study showed that cardiology patients who had WGS spent, on average, $8,109 during the six months researchers collected data, which was $1,561 less than the average of the group who had medical history only. That spending may have been skewed by the small number of study participants. “Hospitalizations are expensive, and you are talking about cardiology patients, so one hospitalized patient could make a big difference,” Christensen said.
To account for this, the authors also provided total costs excluding hospitalizations which showed slightly higher costs for the WGS group compared with those with family history ($5,392 versus $4,692). Among healthy patients in the study, those who had genome sequencing had slightly higher medical costs of $3,670, on average, compared with $2,989 for the family medical history group.
Christensen is encouraged that the early MedSeq data may begin to address the fears of many that having patients and their doctors having WGS data would significantly drive up healthcare costs and utilization. “It is a pilot study, so we haven’t drawn conclusive evidence, but it suggests those fears may not be panning out,” he noted.
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