Clinical OMICS

MAY-JUN 2018

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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12 Clinical OMICs May/June 2018 www.clinicalomics.com W hen it comes to the notion of providing whole-genome sequencing to healthy individuals, there are not one, but two elephants in the room: the cost of the sequencing and analysis itself; and whether people, newly armed with specific information about themselves and their own set of specific genetic variants, might increase downstream spending in the health system. Mitigation of the first hurdle, the cost of sequencing, should take care of itself over time, as sequencing continues its precipitous, Moore's Law–shattering, drop in price. And now, new research published by the MedSeq Project suggest that worries about significant increases in downstream costs may not be warranted. The research, "Short- term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial," published in Genetics in Medicine earlier this year tracked the costs associated with healthcare utilization of two 100-patient cohorts. The first was of 100 cardiology patients with car- diomyopathy diagnoses and the second was 100 healthy primary care patients. Each was randomized to receive a family-history report alone or a whole-genome sequencing (WGS) report. Examining the initial six months of healthcare utilization data, the researchers found "the short-term costs were driven primarily by the costs of sequencing, interpreta- tion, and disclosure, and we did not find evidence that WGS increased downstream healthcare costs." Lead author of the study, Kurt Christensen, Ph.D., an instructor of medicine at Brigham and Women's Hospital in Boston, said MedSeq is the first randomized clin- ical trial that is seeking to provide data on the clinical utility and value provided by WGS in a general healthcare setting, as opposed to disease-specific applications such Cost Conscious MedSeq Project Provides Snapshot to Suggest Genomic Sequencing does not Increase Downstream Healthcare Costs Chris Anderson Editor in Chief "One of the things that was interesting is our physicians were also study participants." —Kurt Christensen MedSeq KEXINO / Getty Images

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