Genetic sequencing: Low rate of downstream costs demonstrate it's worth the investment

As genome sequencing enters clinical practice, fears have arisen about its potential to motivate follow-up testing and ongoing screening that could drastically increase healthcare spending. But few studies have quantified the downstream costs of returning genetic information to patients, especially outwardly healthy people.

New research, however, suggests that genetic sequencing is worth the investment because it can yield better outcomes without necessarily driving expenses upward.

[Also: CMS approves Next Generation Sequencing for cancer patients]

The MedSeq Project, led by investigators at Brigham and Women's Hospital, is the first randomized trial to provide whole genome sequencing to both presumably healthy patients as well as those with a known cardiology issue. As part of this pilot study, the project analyzed both the immediate costs of sequencing itself and the downstream spending six months after genetic information was returned to physicians and their patients.

The research team found that downstream costs did not significantly differ between patients who had received whole genome sequencing and those who didn't.

The MedSeq Project included 100 healthy primary care patients and 100 cardiology patients with a diagnosis of cardiomyopathy. Using data from their medical records as well as services reported in patient surveys, the team tracked healthcare costs incurred in the six months after patients received their results. 

Among both primary care and cardiology patients, there was no significant difference in the average downstream costs for patients in the control group versus patients who received whole genome sequencing.

For cardiology patients, the average cost for the control group was $9,670 and $8,109 for the sequencing group. For primary care patients, the average cost for the control group was $2,989 and $3,670 for the sequencing group. For primary care patients, the average cost for the control group was $3,175 and $3,566 for the sequencing group.

Sequencing did identify health-relevant genetic information in a large majority of participants, including diagnosis-related variants in half of sequenced cardiology patients and additional disease risks in eight cardiology patients and 13 primary care patients.

The average cost per patient for sequencing itself was about $5,250 for both cardiology and primary care patients, a total that includes the cost of sequencing, analysis and interpretation of a large number of disease-associated genes and disclosure of the results.

While it's important to understand the short-term and immediate costs of sequencing, the researchers stressed that six months may be too short a period to observe the full impact of sequencing on costs and health benefits. They plan to extend their study to follow patients for five years.

Twitter: @JELagasse
Email the writer: jeff.lagasse@himssmedia.com