Mara Aspinall and Brook Byers

On-target treatment

Personalized medicine calls for new diagnostic tools — and rules

By Mara Aspinall and Brook Byers
April 18, 2011

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A REVOLUTION in medical care is underway, a new era in personalized treatment that offers hope against some of our deadliest foes. For several years now, scientists and physicians have been developing and deploying targeted therapies that zero in on the unique molecular abnormalities that drive many diseases. But the great promise of these exciting drugs won’t be realized unless regulators and public and private insurers change the way they think about (and, in the case of the insurers, pay for) the diagnosis of disease.

Targeted treatments have been shown to be powerful and effective against HIV, certain types of breast cancer, many forms of blood cancers, and more. They are complex and costly weapons (as much as $80,000 for 18 weeks of treatment), based on our ever-expanding knowledge of human genetics. Targeted therapies fight cancer, for example, by interfering with the specific molecular processes that feed the growth of a patient’s unique cancer cells. In some cases, patients who had exhausted all their traditional treatment options literally came back from the brink of death after receiving a therapy that targeted their specific underlying abnormalities.

And that’s the catch. Targeted therapies work and are cost-effective when given to the right patients, the ones who carry the molecular flaws that the treatments were designed to address. For example, Erbitux, a targeted drug called a monoclonal antibody, is highly effective for the 65 percent of colon cancer patients with a normal copy of the gene KRAS. When targeted therapies are given to people who don’t carry those particular genes, however, diseases go uncured, patients suffer adverse side effects, the window of opportunity to treat them is lost forever and money is wasted.

So, the key to improving patient outcomes and adding value to stressed health care systems is identifying which patients stand to benefit from which available targeted therapies. And that’s done using sophisticated testing methods known collectively as molecular diagnostics. If you haven’t heard the term before, well, perhaps you should write it down. Because molecular diagnostics are going to play an increasingly important role in all of our lives. If, as we and many others believe, the future of medicine is personalized medicine, then that future will be largely defined by the way we regulate and pay for molecular diagnostics.

And the value of molecular diagnostics is not limited to their role in targeted therapy. These high-tech tests also help doctors figure out which patients will and won’t respond to a variety of frequently prescribed drugs, including warfarin, which is used to prevent blood clots. (On average, FDA-approved drugs work for only 50 percent of the patients who take them.) And molecular diagnostics can be used to treat patients based on their susceptibility to certain diseases before any symptoms develop.

To reap the many benefits of this emerging field, however, a number of regulatory and reimbursement policies must be changed. For one thing, both payers and physicians need and deserve to have confidence that the advanced diagnostic methods being used are reliable and accurate. As it stands today, diagnostics are regulated by a variety of state and federal agencies, but there are, as yet, no clear policies in place for the approval of new molecular diagnostics.

The Food and Drug Administration’s Device Center, with its mechanical and electrical engineering tradition, has claimed authority to regulate diagnostic tests as “medical devices.’’ The increasingly complex nature of molecular diagnostics, however, requires new expertise and a new regulatory focus. To fill this essential need, we propose the creation of a dedicated FDA Center for Advanced Diagnostics Evaluation and Research staffed with molecular diagnostics experts from all the relevant fields, including genetics, bioengineering, and biostatistics.

As for the payers, they need to accept the accumulating scientific evidence about the effectiveness of targeted therapies and encourage the use of these diagnostic tools. As personalized medicine evolves, this investment will be more than repaid by improved patient outcomes and the reduction in unnecessary treatment.

Medical progress never comes cheap. How could it, when it’s measured in lives saved and suffering abated? There is a real risk that if molecular diagnostics are not used to select the right patients, many breakthrough treatments will prove just too expensive to adopt. As a society that values life, a society built on innovation, we can’t afford not to pay for the further development and wider use of molecular diagnostics.

Mara Aspinall is chief executive officer of On-Q-ity, a personalized medicine company specializing in diagnostics. Brook Byers, of Kleiner, Perkins, Caufield & Byers, is a venture capital investor specializing in life sciences.