Gene Testing Raises Short-term Costs, But Can Pay Off Later

Neil Osterweil

October 15, 2015

BALTIMORE — Incorporating genetic testing into routine medical care might increase the short-term costs of healthcare, but the upfront costs will be offset by future savings from better, more targeted medical care, results from a randomized study suggest.

Identifying disease early and helping physicians prevent disease in the future could lead to a substantial cost saving, said investigator Kurt Christensen, MPH, PhD, from the division of genetics at Brigham & Women's Hospital and Harvard Medical School in Boston.

But if sequencing identifies diseases that people weren't going to develop anyway, "a cascade of follow-up testing that causes healthcare expenditures could explode," he warned here at the American Society of Human Genetics conference.

The investigators evaluated the cost of sequencing in clinical care as part of the MedSeq Project, a study of methods for integrating genetic testing into clinical care. To date, 200 patients have been enrolled in the project: 100 healthy adults being treated in the primary care setting and 100 adults with complex cardiomyopathy treated in the cardiology setting.

All patients received a family history review, with or without genome sequencing, analysis, and reporting.

Of the 200 patients enrolled, 103 were included in the current analysis. Fifty patients were randomized to sequencing, 66% from a primary care setting and 34% from a cardiology setting, and 53 were randomized to no sequencing, 62% from a primary care setting and 38% from a cardiology setting.

The Price Tag

The mean cost of sequencing and analysis was $5794, which included initial testing, confirmation, interpretation, and reporting of the results to the patient.

On average, patients in the sequencing group spent more time discussing their history with clinicians than those in the no-sequencing group (31 vs 16 minutes; P < .001).

The mean total cost of care — which included obtaining consent, sequencing, and analysis; use of a genome resource center; disclosure sessions; and postdisclosure follow-up care — was higher in the sequencing group than in the no-sequencing group ($9504 vs $2275; P < .001).

Aside from the cost of testing, there were no significant differences in healthcare utilization costs during the 6 months of follow-up between the sequencing and no-sequencing groups. However, there was a signal that sequencing might add slightly to the cost of follow-up in patients treated in the cardiology setting.

The rapid decline in the cost of genomic sequencing and the equally rapid increase in the library of identified genetic sequences and variants are likely to bring the cost of sequencing down substantially in the near future, Dr Christensen told Medscape Medical News.

The tricky part is going to be figuring out whether people take the actions that we hope they will.

In future analyses, the investigators plan to look at the effects of sequencing on healthcare costs beyond 6 months by incorporating out-of-system costs, cost-effectiveness, and quality-of-life measures.

"I think you would expect short-term costs to be higher, because you hope people would take some type of clinical action in response to test results. That's why we're doing this in the first place," said David Veenstra, PhD, from the University of Washington School of Pharmacy in Seattle, who was not involved in the study.

"The tricky part is going to be figuring out whether people take the actions that we hope they will," he told Medscape Medical News. And "for people who don't have positive findings, we hope they won't modify their behaviors when it's not really indicated."

The randomized design of the study adds confidence to the significance of results, but Dr Veenstra pointed out that it is essentially a pilot study, and that larger studies will be needed to get a handle on the true costs of integrating sequencing into healthcare.

The MedSeq project is funded by the National Institutes of Health. Dr Christensen has disclosed no relevant financial relationships. Dr Veenstra's institution is a member of the MedSeq consortium, but he was not involved in the study.

American Society of Human Genetics (ASHG) 2015: Abstract 257. Presented October 9, 2015.


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