Personalized Medicine: No Longer Ahead of Its Time?

Overcoming hurdles, the personalized approach to care might finally pay off

Gary Boas, News Editor, [email protected]

Personalized medicine – which takes advantage of molecular imaging, among other technologies, to determine the best course of treatment for individual patients – is an idea whose time has come. Here, we look at some of the obstacles companies have faced in trying to develop personalized medicine for clinical use and at recent developments that could lead to its widespread deployment.

On average, drugs today work in only half of the people who take them, according to a report by the Personalized Medicine Coalition. For some patient populations – Alzheimer’s and cancer patients, in particular – the number is considerably lower. As a result, treatment costs can soar as doctors move from one drug to the next hoping to find the therapy that works, often having to address complications and adverse reactions to those that do not. And while the patient’s medical bills continue to pile up, the psychological toll – of submitting to endless rounds of tests, of not getting better despite all of this – can be substantial.

Personalized medicine can help reduce the economic and psychological costs of receiving care by essentially tailoring the treatment to the patient. Based on the patient’s genetic profile, doctors can choose the most effective drug or treatment protocol, contributing to improved outcomes while also minimizing the possibility of side effects. At the same time, personalized medicine can contribute to preventive care planning by identifying a patient’s predisposition to a disease.

The implementation of personalized medicine requires a confluence of several sectors (represented by wedges in the diagram). Concentric circles and range represent stages of implementation for each sector, from public or stakeholder recognition of the value of personalized medicine, the establishment of supporting policies and laws, the launch and execution of smaller-scale pilot programs and projects to the final stage of full implementation and widespread use. Full implementation of personalized medicine can be achieved only when all sectors converge toward the center. Courtesy of the Personalized Medicine Coalition; originally printed in the report The Case for Personalized Medicine.

For all its promise, however, it has yet to see widespread clinical use.

Edward Abrahams is president of the Personalized Medicine Coalition, which was established in 2004 to educate the public, policymakers, government officials and private sector health care leaders about the benefits of personalized medicine. With nearly 200 members today, the coalition serves to provide a better understanding of the opportunities and challenges in personalized medicine. In a recent e-mail, Abrahams identified the three most significant hurdles that personalized medicine encounters: regulation, reimbursement and education.

Health care companies looking to bring new drugs and companion diagnostic tests to the market face considerable regulatory hurdles. In particular, the FDA should establish clear, consistent regulations for co-developed and companion drugs and diagnostics, Abrahams said. Otherwise, “personalized medicine will not develop as fast as it might.”

Even with FDA approval, therapies can be hampered by their inability to be reimbursed. Medicare and Medicaid often set reimbursement policies for other public and private payers. Sometimes they require extraordinarily high levels of evidence – often beyond the financial ability of small diagnostic companies – to justify their investment.

Finally, Abrahams said, “an FDA-approved treatment covered by insurance is not useful to patients unless their health care provider knows about it. Educating those in clinical practice about available personalized therapies is critical to widespread adoption of personalized medicine and, therefore, to increasing efficacy and reducing adverse events.”

(Also, pharmaceuticals have resisted embracing personalized medicine because they stand to gain more from selling less-targeted drugs designed for broader patient populations – the so-called “blockbuster” drugs. Targeted drugs not only would bring in less revenue, but also would likely involve less efficient marketing campaigns. But even the pharmaceuticals are beginning to acknowledge the potential benefits of drugs that serve smaller populations more effectively.)

All of this had led to a certain reticence on the part of investors, an uncertainty as to whether personalized medicine and the companies working to bring the associated technology to market can really deliver on the promise. But with advances in the field, new players and a new business model, these attitudes are beginning to change.

The declining cost of sequencing individual human genomes has facilitated further research and development (R&D) efforts, leading to new discoveries and a number of tools with which to develop new targeted therapeutics; for example, the companion diagnostic tests that companies have begun to develop alongside drugs early in the R&D process. At the same time, Abrahams said, “more medical centers across the country have been successful in using personalized treatments to benefit patients with a wider range of ailments, improving patient outcomes and, we’d like to believe, lowering costs.”

The emergence of pharmacy benefit managers such as Medco Health Solutions Inc. and CVS Caremark is further aiding the business case of personalized medicine. These companies provide personalized medicine services to employers, who will save money with improved health outcomes among their workers and reduced prescription costs. Also, they anticipate that the genetic testing they perform will lead to greater numbers of particular generic drugs, resulting in greater profits.

DNA sequencing is performed on Single Molecule Real Time (SMRT) Cells, each of which contains thousands of zero-mode waveguides. The cells enable single-molecule, real-time observation of individual fluorophores against a dense background of labeled nucleotides while maintaining a high signal-to-noise ratio. Courtesy of Pacific Biosciences.

Mohr Davidow Ventures of Menlo Park, Calif., is among those companies that believe personalized medicine’s time has come. “Personalized medicine is happening,” Bill Ericson, managing partner at Mohr Davidow, told The Boston Globe in July. “The thesis is sound. It takes years to develop these products.” The early-stage venture capital firm is funding a number of entrepreneurs and cross-disciplinary research teams working in this area, including Pacific Biosciences, also of Menlo Park.

In July, Pacific Biosciences, which has developed a disruptive technology platform for the real-time detection of biological events at single-molecule resolution, announced that it had completed a Series F round of financing in the amount of $109 million. To date, the company has raised $370 million in capital to support development of its Single Molecule Real Time (SMRT) DNA sequencing technology.

Pacific Biosciences of Menlo Park, Calif., is developing DNA sequencing technology that could enable more precise diagnostics and thus contribute to personalized medicine applications. Shown is a schematic of the underlying technology of the Pac Bio DNA sequencing platform. ZMW = zero-mode waveguide. Courtesy of Pacific Biosciences.

The financing round includes a previously announced $50 million strategic investment by Gen-Probe Inc. of San Diego. Besides this, Pacific Biosciences will work with Gen-Probe to develop integrated clinical diagnostics systems, taking advantage of the SMRT platform and Gen-Probe’s expertise in diagnostics.

“We see a significant opportunity for our SMRT platform in the molecular diagnostics market and are taking a proactive and strategic approach by collaborating with Gen-Probe, a proven leader in developing fully automated instrument systems for nucleic acid testing,” said Hugh Martin, chairman and chief executive officer of Pacific Biosciences. “We believe Gen-Probe’s expertise in instrument systems engineering and sample preparation, combined with their capabilities in clinical and regulatory affairs, will help us maximize the potential of our sequencing technology to benefit human health.”