Integrating whole genome sequencing into primary care and heart disease care is unlikely to substantially increase the costs of health care utilization and follow-up tests, according to research presented on Friday, October 9, at the American Society of Human Genetics (ASHG) 2015 Annual Meeting in Baltimore, Maryland. “This finding helps 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,” said Jason L. Vassy, M.D., M.P.H., a primary care physician and co-investigator on the study at Brigham and Women’s Hospital. The cost analysis was conducted as part of the MedSeq Project (http://www.genomes2people.org/the-medseq-project/), a broader study of the best ways to integrate genome sequencing into clinical medicine and how these might impact health systems and individuals. The project has enrolled a total of 200 patients: 100 healthy adults in primary care settings and 100 adults receiving care for complex cardiomyopathy, a type of heart disease. Half of the patients in each group were randomly assigned to receive the standard of care, which included a discussion of family history of disease, and the other half received the standard of care plus whole genome sequencing, a personalized Genome Report, and a discussion of the results. Results from 108 of the 200 patients, 70 in the primary care group and 38 in the cardiology group, were included in the preliminary cost analysis presented at the ASHG annual meeting. On average, patients whose genomes were sequenced incurred a cost of $719 in follow-up tests and care over the following year, including out-of-pocket expenses, while standard treatment and follow-up averaged $430 per patient.
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