December 2014, Vol 3, No 8

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Personalized Medicine’s Progress

Edward Abrahams, PhD

The Last Word

On November 12, 2014, the Personalized Medicine Coalition (PMC) celebrated its 10th anniversary at the 10th Annual Personalized Medicine Conference at the Harvard Medical School. The occasion gave us a chance to review the progress of personalized medicine and to reflect on the continuing challenges facing the field.

Personalized medicine has in fact changed the face of healthcare during these past 10 years. Progress has been steady, if incremental.

Although we have come far, we still have a long way to go before we can declare victory, which could be defined as no longer treating the disease but rather treating the patient, according to what works best for that individual.

The PMC was launched at the end of 2004 by some 20 institutions across healthcare that believed – then and now – that we needed a friendlier environment in the important space between the science and the patient so that we can in fact replace one-size-fits-all trial-and-error medicine, which – then and now – still defines the way most healthcare is practiced.

A little historical context. 2004 is remembered best by the launch of something a group of Harvard undergraduates called “The Facebook.”

But closer to home in the world of personalized medicine, where things don’t move quite so fast as they do in social media, but maybe with equal significance for the future of humanity, the final map of the human genome had just been published.

Also in 2004, with enormous significance for the future of the pharmaceutical industry as well as personalized medicine, Merck withdrew Vioxx from the market because it could not predict which patients taking the painkiller were at risk of severe cardiovascular side effects.

While personalized medicine cannot point to the equivalent of Facebook’s impact on society, it can cite significant advancements during the past decade.

Let me reference 10 facts. First, the coalition I referred to earlier has about 225 members, a number I like to think of as a “surrogate end point” that reflects interest in and commitment to personalized medicine.

Second, the number of prominent examples of available personalized medicine drugs, treatments, and diagnostic products have increased, by our count, from 13 in 2006 to 113 in 2014.

Third, with as yet unknown significance for the future of diagnostics, the cost of sequencing a single human genome has declined from about $100 million in 2004 to around $1000 ten years later.

Fourth, beginning in 2004, new diagnostic companies began producing stand-alone, sophisticated prognostic tests to help guide important medical decisions, thereby saving patients and the health system unnecessary expense and side effects.

Fifth, while it took 26 years before the discovery of the EGFR mutation led to the development of Erbitux in 2003, it only took 4 years until the discovery of the ALK mutation led to the development of Xalkori in 2011, pointing to a new era of drug development in which it may be said, and has been said, that without a test there can be no drug.

Sixth, whereas in the early 1990s, only 5% of the FDA’s new drug approvals were for targeted therapeutics, 20 years later that number is now a quarter of the new approvals. And last year, it was 45%, including “break-through” drugs to treat selected cancers in segmented populations.

Today, 137 FDA-approved drugs have pharmaco­genomic information in their labeling, and 155 pharmacogenomic biomarkers are included on FDA-approved drug labels. It is also estimated that marketed therapeutics with an associated companion diagnostic generate over $19 billion annually.

Seventh, led by the passage of the Genetic Information Nondiscrimination Act, which removed an important roadblock on the path to personalized medicine by assuaging public anxiety that genetic information might be used to deny health insurance or employment opportunities, public policies have been put in place to encourage the growth of personalized medicine. They include the FDA’s guidance on voluntary pharmacogenomics data submission and the development of pharmacogenomics-based clinical dosing guidelines; FDA’s guidance on codeveloped diagnostic-therapeutic products; FDA’s encouragement of adaptive clinical trial designs that incorporate genetics and take trials to patients for the first time; revised Current Procedural Terminology coding and market-based pricing beginning in 2017 to encourage diagnostic development; the launch of the voluntary National Institutes of Health genetic testing registry; and the development and implementation of FDA/Centers for Medicare & Medicaid Services parallel review for molecular diagnostic tests.

We have overcome many challenges in the past 10 years and have made much progress, but suffice it to say, we have far to go.

Let me suggest 3 final points, or facts, if you will, that remain challenges for the field.

Eighth, the uncertain future and continuing contention regarding the regulation of laboratory-developed tests prevents the personalized medicine community from working together and deters investment because the rules of the road remain unclear.

Ninth, while we know wise policy would encourage coverage and payment for products based on their value, payers and manufacturers do not agree on the levels of evidence we need to make those decisions. In this new environment, in which it is understood that healthcare costs must be contained, it is incumbent on all to show that personalized medicine can not only improve outcomes but also save the healthcare system money by providing the right treatment to the right patient at the right time, as the mantra of personalized medicine puts it.

And finally, we have only scratched the surface of educating healthcare providers about the power of personalized medicine, never mind patients. A 2010 American Medical Association/Medco survey of physicians found, for example, that while 98% believed that genetics play an important role in affecting treatment response, only a quarter had any formal training in pharmacogenomics. And only 10% felt that they had sufficient knowledge to incorporate it into their

Regarding patients, PMC found in a poll released earlier this year that 68% of the public had never heard of personalized medicine. And most of the 32% that said that they had heard of it got it wrong.

So, in short, with regard to education and advocacy, we have work cut out for us if we want to build on the progress we have made in the past 10 years.

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