Genome Sequencing Doesn't Add Big Follow-Up Costs, Study Says

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Oct. 13 — The integration of whole genome sequencing into clinical practices won't substantially drive up costs of health-care use and follow-up tests, according to research findings released Oct. 9.

The findings should help to “allay the worry that patients whose genomes are sequenced will run out and spend thousands of dollars on follow-up tests and care, which may or may not improve their eventual health outcomes,” co-investigator Jason L. Vassy, who is an instructor in medicine at Brigham and Women's Hospital in Boston, said in a statement.

Specifically, researchers found on average that patients in primary care and heart disease care whose genomes were sequenced incurred a cost of $719 in follow-up tests and care over the following year, including out-of-pocket expenses. The costs of standard treatment and follow-up averaged $430 per patient, which Vassy and his colleagues said wasn't a statistically significant difference.

“[B]ut more importantly, it was far smaller than some may have feared,” Vassy said. The average cost of whole genome sequencing itself runs about $6,923 per patient, which includes the initial test, confirmation and interpretation of results, and time spent conveying them to the patient, according to the research.

Genome sequencing and analysis isn't inexpensive, Dmitry Dukhovny, an assistant professor of pediatrics at Oregon Health & Science University and first author on the study, acknowledged in a statement. “[B]ut by identifying risk factors for health conditions that enable prevention or early treatment, it may offset future costs,” he said. “However, this study cannot yet address genome sequencing’s benefits to cost and health, which will take place over the course of a lifetime.”

The research is based on an analysis of 108 of the 200 patients enrolled in the MedSeq Project, which studies the best ways to integrate genome sequencing into clinical medicine and how this might affect health systems and individuals. Researchers calculated costs using Medicare reimbursement schedules for the care received, and didn't include the laboratory costs of sequencing patients’ genomes and assembling a report of the results.

“This study gets at the definition of cost-effectiveness,” Dukhovny said. “In this case, we will want to assess the total value gained by spending on sequencing, analysis, and counseling patients, which includes future cost savings as well as less tangible improvements to health and quality of life.”

Dukhovny, Vassy and their colleagues presented their findings Oct. 9 at the American Society of Human Genetics annual meeting in Baltimore

To contact the reporter on this story: Jeannie Baumann in Washington at

To contact the editor responsible for this story: Randy Kubetin at

More information on the paper is available at

More information on the MedSeq Project is available at

More information on the American Society of Human Genetics meeting is available at

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