By Monica Heger
SAN DIEGO, Calif. — Whole-genome sequencing will be a key tool in preventive medicine within five years, according to MD Revolution, a company founded with the aim of using genomic data to help doctors and patients guide medical treatment and lifestyle choices.
While sequencing is quickly gaining ground to help diagnose and personalize treatment for rare diseases and cancer, there are few examples of it being used as a general tool to help guide health decisions, largely because the technology is still expensive and interpretation is difficult.
However, Samir Damani, an MD Revolution co-founder, told Clinical Sequencing News that now is the time to start building the infrastructure for clinical whole-genome sequencing, and argued that there is already enough information available about disease risk variants to make it worthwhile.
"Where clinical sequencing is going to have the biggest impact on medicine, today and in the future, is going to be in prevention," he said. "Others are focused on idiopathic disease and cancer, but I think the largest use of clinical sequencing is going to be the use of customized preventive medicine reports."
Damani, a cardiologist, launched MD Revolution in February because he saw a "huge void in [doctors'] ability to convey to patients where they are with their health, where they need to be, and how they're going to get there."
San Diego-based MD Revolution is working with bioinformatics firm Cypher Genomics to develop a report for the clinical interpretation of whole-genome sequence data, and plans to work with a sequencing provider to offer whole-genome sequencing in a clinical laboratory. Damani said that while he has been talking primarily with Illumina because the company has a CLIA-certified laboratory, he is open to any sequencing technology.
Damani said he has so far identified around 10 to 15 patients who are interested in whole-genome sequencing once prices drop from the $25,000 to $30,000 that MD Revolution would charge today. He predicts that cost would drop to between $12,000 and $15,000 within a year, and to between $6,000 and $7,500 in two years.
The company plans to deliver genomic interpretation to patients under a subscription model so that as new information is uncovered about specific variants, the report can be updated with those annotations. The report will not be linked to a patient's electronic medical records, which will help protect privacy, Damani said. In addition, the report will not include information on variants associated with diseases for which the patient can not take any preventive or therapeutic action — such as Alzheimer's or Huntington's disease — unless they are requested.
Currently, MD Revolution offers genotyping services from Pathway Genomics, including a range of reports that screen for variants related to nutrigenomics, drug response, and disease risk. The company couples those genetic reports with metabolic and fitness testing in order to tailor nutrition and fitness plans specifically for patients. The service also provides patients with mobile health devices that collect data on blood pressure, heart rate, blood glucose, and other factors over time. Services currently range between $2,000 and $10,000 depending on the comprehensiveness of the genetic report.
The services are currently not reimbursed by insurance companies, but Damani predicts that all of them, including whole-genome sequencing, eventually will be if he is able to show that his strategy can effectively lower overall health care costs for patients. Currently, he said, wellness efforts from doctors amount to little more than encouragement to eat better and exercise, so it is difficult to make the case for reimbursement. But, he thinks that if he can amass data and evidence that his strategy is cost-effective, payor will reimburse.
As an example of the value of preventive medicine, he noted that reducing cardiovascular risk factors
can reduce mortality by nearly 60 percent, which is much better than benefits seen from Lipitor, which only reduces heart attacks by about 20 percent. Patients who know that they are at risk for such diseases are more likely to make positive lifestyle changes, he said
However, while Damani foresees sequencing as one tool that can empower patients to make these lifestyle changes, he stressed that it will be necessary to deploy it not as an "end-all, be-all," but rather in such a way that the genomic information is used in conjunction with traditional medicine and tools to help patients eat right and exercise.
Damani also thinks that it will be necessary for physicians to have significant involvement in how sequencing reports are created — another hole in the transition of sequencing to the clinic that he thinks MD Revolution can fill.
"Doctors need to have another physician build the [genomic] report for them," and not a bioinformatics firm, he said. "Not only that, they have to show them how it's going to be used."
MD Revolution is working with Cypher Genomics on creating its patient reports to ensure that they are "built in a manner that physicians will use them," said Damani. Additionally, he said that he plans to educate physicians on the use of the reports and to develop affiliate practices that use the same model as MD Revolution.
While the company's model is similar in some ways to direct-to-consumer genotyping firms like 23andMe, Damani said these companies fall short when it comes to interpreting complex risk information for patients. Online disease risk reports from these firms are automated and "can be interpreted in a number of ways," he said.
Instead, he thinks clinical sequencing will have the most benefit on health if it is led by physicians and used like "an arrow in a quiver," along with traditional medicine and mobile health devices.
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