February 29, 2016

Precision Medicine, Part Three: Cost and Time No Longer Barriers to Sequencing

By Jeff Briggs

Helix to health care image

This is the final installment of a three-part series on What Is Precision Medicine, another of the Center for Individualized Medicine's attempt to explain and introduce precision medicine to an audience that may just be coming to the topic. Part one explored “From Double Helix to Health Care,” and part two looked at "Benefits of Mapping the Human Genome."  Now, the last installment examines the costs and time to bringing precision medicine to the individual, whether he or she is a patient or a consumer.

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Cost and Time No Longer Barriers to Sequencing

The first complete human genome sequencing took 13 years. Now, the sequencing can be done in a few days; the three to five million variants in a person’s genome can be identified.

Time is no longer a barrier to sequencing. But interpreting and understanding the data still remains a bottleneck. At Mayo Clinic’s 2013 Individualizing Medicine Conference, Eric Green, M.D., Ph.D., director of the National Institutes of Health’s National Human Genome Research Institute (NHGRI), called it the “$1,000 genome and the $100,000 analysis.”

Dr. Edison Liu

Dr. Edison Liu

While it may be slightly hyperbolic to still call it the $100,000 analysis, the problem remains. Who and how does someone determine what is clinically relevant? And what is that cost? At the 2015 conference, Edison Liu, M.D. called for the field to develop and train experts who can interpret a patient’s genome test — like medicine did when it trained radiologist to interpret images.

In short, turning data into knowledge and turning knowledge into practice is still evolving. New technologies have created next-generation sequencing, bringing the cost closer to the NHGRI’s goal of $1,000 for whole genome sequencing. Human Longevity CEO, J. Craig Venter announced at the 2015 conference that he was doing whole exome sequencing for $250, or about the “price of a person’s cable TV bill.”

Much of the power of genomics, however, remains wedded to the laboratory and a handful of large institutions, such as Minnesota’s own Mayo Clinic. The issues are complex: the cost and time of research and development, the length of multiple clinical trials, building the infrastructure and managing big data, and the need for standardize electronic medical records (EMRs).

While the costs have dropped precipitously from the $3 billion for sequencing the first human genome, the method of paying those costs remains an obstacle to increased use of precision medicine in daily health care. For many physicians and their patients the issue usually comes down to a more fundamental question: “Will insurance cover it?”

Whether or not an insurance plan covers genetic testing depends on several factors, but the most important are the strength of evidence supporting a test’s analytical and clinical validity, and clinical utility.

Private insurance companies make their own decisions about what to cover and how much to reimburse for a genomic test, but private insurers often follow the decisions of Medicare, as the nation’s largest provider of health insurance. Medicare decisions, made by the Centers for Medicare and Medicaid Services (CMS), has a policy of reimbursing for tests that are reasonable and necessary for diagnosis or treatment of an illness or injury. However, CMS does not typically reimburse for experimental or investigative tests, including genetic predisposition tests, except in the presence of signs and symptoms of disease.

Teresa Kruisselbrink, M.S., CGC

Teresa Kruisselbrink, M.S., CGC

According to Teresa Kruisselbrink, a certified genetic counselor at Mayo Clinic, she can get insurance coverage of a genetic test about 90 percent of the time if it is prescribed by a physician as being “reasonable and necessary,” is properly coded, and has been “demonstrated to provide healthy outcomes.”

Kruisselbrink also added, “Predictive and predisposition testing will NOT be covered.”

"We need our payment policy to keep up with the science," said Amy Miller, Ph.D., executive vice president of the Precision Medicine Coalition, in a recent interview with Stat News. “We have this weird juxtaposition with the White House and the vice president loving personalized medicine, and CMS often does not pay for it.”

But many payers point out that the body of research demonstrating clinical benefit of genomic medicine is relatively small. As a result, many insurance companies do not cover comprehensive gene sequencing for most indications.

"A payer's not interested in paying for research," said Adam Borden, who specializes in reimbursement issues for Avalere Health. "They want to pay for what's reasonable and necessary for that patient."

It remains the classic Catch-22: Health care providers have to prove to CMS and other private payers that a genomic treatment option is reasonable and necessary, but the providers can’t prove it’s useful and necessary because no one will cover the costs.

Still, like the building blocks of genomic medicine, payers are slowly coming onboard. Pennsylvania-based Independence Blue Cross announced that it will cover a complex type of genetic testing for some cancer patients.

How to handle an increasing array of these expensive tests will be an ongoing debate for years to come. New coverage is being added all the time, but the progress is slow. The reimbursement system — both governmental and private payers — is designed to make policy decisions on treatments for large groups of people (chemotherapy for breast cancer patients, for example). Genomics leads to new specialized treatments offering superior results for a smaller pool of patients.

While insurers wrestle with questions of safety and efficacy of new treatments, patients must decide how much they want to cover out-of-pocket for genomic testing.

Coming of Age
Time and costs are no longer barriers to genomic medicine—even if reimbursement still is. We see genomics in direct patient care being brought to the bedside in so many different ways. When genetic information informs a patient of an increased risk for a disease and that person makes lifestyle changes to reduce that risk, genomics has been translated into efficacy. If a gene variation influences how a patient processes a medication and the physician prescribes dosing instructions accordingly, a person’s medical care is now safer and more accurate because of genomics. If an entire family undergoes early colonoscopies because genomic tested revealed an increased familial risk, then chances are lives have been save.

Precision medicine will not simplify care, but it, in addition to many factors such as lifestyle, environmental influences and family history, will let physicians customize a patient’s health care needs. Personal, customized medicine for each patient was, after all, what drove Hippocrates so many millennia ago. And every physician since.

Precision medicine is coming of age.

Tags: Amy Miller, center for individualized medicine, CMS, genomic medicine, individualized medicine, Individualized Medicine Conference 2015, insurance, Medicare, personalized medicine, Precision Medicine, Uncategorized

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