Genome Sequencing Does Not Increase Downstream Health Care Costs

A recent study in Genetics in Medicine found that genome sequencing in healthy patients and cardiology patients did not increase downstream health care costs.

According to the study, overtreatment and over-screening as a result of genome sequencing in everyday clinical practice are gaining momentum as sequencing becomes more readily available to clinicians.  Some fear that sequencing could trigger downstream overutilization of health care testing and services.

“Whole genome sequencing is coming of age, but there's fear that with these advancements will come rocketing health care costs,” Kurt Christensen, MPH, PhD, an instructor of medicine in the Division of Genetics at Brigham Women's Hospital, said in a press release. “Our pilot study is the first to provide insights into the cost of integrating whole genome sequencing into the everyday practice of medicine. Our data provide reassurance that physicians seem to be responding responsibly and that we're not seeing evidence of dramatically increased downstream spending.”

The researchers divided 100 healthy patients and 100 cardiology patients into two study groups: a group that received a review of family history and a group that received a review of family history with a whole genome sequencing analysis and report. They then tracked downstream medical costs for 6 months after the review in order to determine trends in post-review utilization.

Study results showed that there were no significant differences in average downstream costs for either health or cardiology patients. They found that average costs for cardiology patients with whole genome sequencing were $8,492 compared with $10,838 in the control group. Likewise, health primary care patients with genome sequencing had average costs of $3566, compared with $3,175 in the control group.

Additionally, the researchers noted that health-relevant genetic data were gleaned from genome sequencing. Half of cardiology patients identified diagnosis-related variants, while additional disease risks were identified in 8 cardiology patients and 13 primary care patients.

Dr Christensen and colleagues noted that the current high-cost of genome sequencing, $5000 per patient in this study, still makes the screening cost-prohibitive. However; their study emphasizes that as genome sequencing becomes cheaper, utilization should not be hindered by fear of high downstream health costs.

“Though there are limitations to our pilot study, our work provides novel and much-needed data to help decision makers begin to understand the short-term cost implications of integrating whole genome sequencing into clinical care, and provides insight about what data are needed to provide more clarity about the economic implications of this technology,” Dr Christensen concluded.

—David Costill

For articles by First Report Managed Care, click here

To view the First Report Managed Care print issue, click here