Dmitry Dukhovny investigates whether genome sequencing increases health care spending in adults

Dmitry Dukhovny, M.D., M.P.H., associate professor of pediatrics and neonatologist at the OHSU School of Medicine

Patients who receive sequencing results are unlikely to incur increased medical costs beyond the initial expense of sequencing process 

As genome sequencing, the process of determining health-relevant genetic information, becomes more common in the clinical setting, so does fear about its potential to motivate follow-up testing and ongoing screening that could drastically increase health care spending without added benefits.

The study results published on March 22, 2018, in the journal Genetics in Medicine.

Little is known about the downstream costs of returning genetic information to patients. Researchers at OHSU and Brigham and Women’s Hospital in Boston, Massachusetts have completed the first cost analysis conducted alongside a randomized controlled trial. The team found that downstream costs did not significantly differ between patients who had received whole genome sequencing and those that did not.

Using medical and survey data collected from BWH’s MedSeq Project, which includes 100 healthy primary care patients and 100 patients diagnosed with cardiomyopathy, the research team analyzed the immediate costs of genome sequencing, as well as downstream medical spending six months after the return of genetic results. There were no significant differences in downstream healthcare costs during a six-month period between those sequenced and their non-sequenced counterparts in both cardiology and primary care arms.

The findings offer a promising outlook for short-term health and financial impacts of whole genome sequencing on patients. They also suggest the potential for providers looking to integrate the practice within clinical care settings. 

The economics’ study’s co-senior investigator Dmitry Dukhovny, M.D., M.P.H., associate professor of pediatrics and neonatologist at the OHSU School of Medicine, sees the trial as a beginning.

Because whole-genome sequencing does have an initial price tag of approximately $5,000 per patient, additional work is needed to extend the analysis timeline and better understand the impact and benefits of sequencing in the long-term. The promise of such technology is that a fiscal investment in the beginning would be offset by the benefits gained and potentially even result in cost savings.

Read more about the research from Brigham and Women’s Hospital.

This study was supported by NIH grants U01-HG006500, K01-HG009173, KL2-TR001100, and R01-HG007063, and Career Development Award IK2-CX001262 from the VA Clinical Sciences Research and Development Service. This work was conducted with support from Harvard Catalyst | The Harvard Clinical and Translational Science Center (National Center for Research Resources and National Center for Advancing Translational Sciences, NIH grant UL1-TR001102) and financial contributions from Harvard University and its affiliated academic health care centers.

— Tracy Brawley