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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Page 14 of 51 May/June 2018 Clinical OMICs 13 as cancer or rare disease diagnoses. "I think the more exciting applications [of WGS] are in these asymptomatic populations where you can really cap- italize on the full capabilities of the genome," Christensen said. "So not just providing information to diagnose a spe- cific disease, but providing information that may prevent disease altogether, and inform not only medical decision making, but personal decision making also." Data from the study showed that cardiology patients who had WGS spent, on average, $8,109 during the six months researchers collected data, which was $1,561 less than the average of the group who had medical history only. That spending may have been skewed by the small number of study participants. "Hospitalizations are expensive, and you are talking about cardiology patients, so one hospital- ized patient could make a big difference," Christensen said. To account for this, the authors also provided total costs excluding hospitalizations which showed slightly higher costs for the WGS group compared with those with family history ($5,392 versus $4,692). Among healthy patients in the study, those who had genome sequencing had slightly higher medical costs of $3,670, on average, compared with $2,989 for the family medical history group. Christensen is encouraged that the early MedSeq data may begin to address the fears of many that having patients and their doctors having WGS data would significantly drive up healthcare costs and utilization. "It is a pilot study, so we haven't drawn conclusive evidence, but it suggests those fears may not be panning out," he noted. Next steps in the program are to follow the study partic- ipants longitudinally and many in the study have already consented to being followed for a total of five years to pro- vide a longer term view on the overall value provided by WGS to these two patient populations. Not Just a Pilot—a Model MedSeq is a pilot project run under the umbrella of the Genomes 2 People (G2P) Research Program at Brigham and Women's that also includes collaborators Partners Health- care and Harvard University. The mission of G2P is to pro- vide research on the integration of genomic research into clinical practice. Other research projects include MilSeq, a program to provide whole-exome sequencing to active members of the U.S. Air Force, and BabySeq, a study to determine the benefits of providing whole-exome sequenc- ing for newborn babies. Principal investigator for the program is Robert Green, M.D., who sees the organization's pilot studies as having broader impact than merely the data they return. "Some- times I describe our projects as a hybrid between clinical trial pilots and demonstration projects," Green said. That's because the project had to take into account not only the normal clinical trial activities of enrolling and consenting patients, but also how the project would interrogate the genome, the level of variant classification, and how to cre- ate a relatively simple report of results that could would be useful to both highly knowledgeable genomics researchers and non-expert clinicians. "There are people spending [all their time] in each of these individual areas," Green said. "Stringing them together to create a coherent process is one of the things I'm most proud of in all of our pilot studies. Not that we neces- sarily got each one right, but we have absolutely made an (continued on next page) The staff of Genomes 2 People at their Boston-area offices.

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