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Changes on the Horizon as Personalized Medicine Moves into Clinical Practice

By Tony Fong

NEW YORK (GenomeWeb News) – Prepare for drastic changes in the healthcare delivery system. That was the message at the Burrill Personalized Medicine Meeting held this week in Burlingame, Calif.

The two-day conference covered a wide swath of topics from the effects of healthcare reform legislation that is just coming into effect, to the Myriad BRCA gene patent case, to the global state of personalized medicine. Threading through the different sessions was the notion that healthcare and the delivery of it will look very different in the coming future, hastened by the further realization of personalized medicine and the use of 'omics in the clinical setting.

According to Steven Burrill, CEO of Burrill and Co., a life sciences merchant bank which organized the conference, to date about 1,800 genetic tests are already on the market and every week between five and 10 new genetic tests are introduced. The continuing advent of such tests and the introduction of molecular diagnostics into the healthcare system, he and others said, will profoundly change how medicine is practiced.

Currently, physicians are poorly trained to interpret and explain to patients 'omics data, and a new paradigm will have to be established to incorporate deeper genetics education into the medical school curriculum, they said, which could possibly include the creation of a new specialty, "the molecular physician," to practice genomics-based medicine.

According to one panel, the Washington healthcare reform package, which began being implemented last week, will almost certainly result in new innovations and technologies, including new molecular-based tests.

David Lawrence, the former chairman and CEO of the Kaiser Foundation Health Plan and Hospitals, said that the reform provides insurance to 32 million Americans who otherwise would not have health insurance. The system as currently configured cannot handle this additional burden, he said, and eventually will spur technology development as a way to handle the additional strain on the healthcare system. Such technology, he said, would provide better diagnostic capabilities and management of disease.

"This health reform will accelerate a disruptive innovation that was already well under way," Lawrence said.

In fact, Burrill in his opening remarks to the conference, said that as recently as three to five years ago, the consensus view was that no one would be willing to pay thousands of dollars for a companion diagnostic. No one would pay that much even for a therapeutic.

But, he added, that is changing. Ninety percent of drugs work on only half of all individuals, he said, and that fact has lowered the value of therapeutics and raised the value of tools that will allow clinicians to determine who would benefit the most from a treatment, Burrill said.

Richard Barker, director general of the Association of the British Pharmaceutical Industry, added that reform is not just happening in the US. Healthcare crises — a gap between what a nation can afford and how much healthcare costs – are happening in developing nations such as China and India, as well, further pushing up the demand for new technologies and innovations.

But obstacles to widespread adoption are significant even if such technologies are created and proven to be effective, Lawrence said, citing statistics indicating that it takes between 12 and 17 years before new technology is used routinely by 80 to 90 percent of healthcare providers.

Differing levels of care and access to healthcare also hinders technology adoption, said Tim Harris, Chief Technology Officer for SAIC-Frederick. For example, while cancer hospitals may provide the most up-to-date treatment options for cancer patients, the majority of Americans with cancer go to community health centers, where access to the latest instruments and modes of care are not always available, he said.

Unless strategies are implemented to address this, technology uptake will suffer, he said.

Barker added that the current regulatory and payment systems are detrimental to the adoption of new technologies. The US has no "coherent" regulation of therapeutics-diagnostics combinations, he said, and the ability of the population to change health plans every year discourages the plans to support or adopt new technologies because they cannot know what kind of return on investment they will get if they don't know which beneficiaries will remain with the plan.

Not Ready for Prime Time

Even though new technologies are being developed, are they ready for clinical use? In some cases, no, speakers at the conference said. In the 'omics space, next-generation sequencing has garnered the most attention, but the technology has a long way to go before it can be applied in any meaningful way, they said.

Atul Butte, a biomedical informatics and pediatrics researcher at Stanford University who was involved in the sequencing and analysis of Stephen Quake's genome, said that the project, from inception to completion took about two-and-a-half years and a team of more than 20 people to carry out.

Stephen Little, vice president of personalized medicine for Qiagen, also said that while next-gen sequencing is an important technology for the research community, the company does not see it as a tool with much use, at least for now, as a diagnostics tool.

While the technology has quickly evolved to the point where a whole genome can now be read in a day, genetics research and genomics-based tests have three primary barriers to overcome, Butte said. One is that not enough genetic variants have been uncovered by genome-wide association studies. Today, only about 6 percent of heritable risks are known.

Second, the exact benefits of such tests remains unclear in many instances. This is true, other speakers said, in light of the questions surrounding the pharmacogenomic benefits of many tests on the market.

Lastly, the field is still grappling with how to run clinical trials for personalized medicine, Butte and others said.

According to Amy McGuire, associate director for research in the Center for Medical Ethics and Health Policy at the Baylor College of Medicine, designing studies that can show the benefits of a sequencing-based diagnostic will be "very, very difficult," especially in studies with large patient numbers.

Whatever the challenges, opportunities exist for companies trying to get a foothold in the personalized medicine market, many at the conference said.

Dietrich Stephan, founder, president, and CEO of the Ignite Institute and co-founder of consumer genetic testing firm Navigenics, said that he believes that personal-genome based medicine is "absolutely … the trajectory that medicine is on." Health savings accounts are starting to pay for such tests, and he said he believes that the Centers for Medicare and Medicaid Services will get into the act because of the cost-saving potential.

In the meantime, though, genetic tests that have been marketed to the public are being scrutinized by the US Food and Drug Administration and Congress. On that front, McGuire said that she believes that FDA will regulate the tests but not so stringently that it will stop innovation. While questions remain about the agency's approach toward pre-market approval for the tests, she added that FDA has not indicated that they want to take them off the market.

Joanna Mountain, senior director of research at consumer genetics testing firm 23andMe, added that after meetings with the FDA since the summer, she is both "positive" and "optimistic" about the approach the agency will take on genetic tests.

Finally, Burrill said that one area that molecular diagnostics and the tools used to develop such tests can seek to exploit is in the area of nutracaceuticals, where consumers have both a high interest and a willingness to pay for such products. The worldwide prescription drug market totals about $840 billion, half of which is in nutraceuticals, or wellness drugs that are paid for out-of-pocket.

"People think all prescription drugs should be covered" by insurance, but consumers appear to have no qualms about paying directly from their wallets for wellness drugs, Burrill said.

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