Getting personal

Pharma and biotech firms doing the real work of developing personalised medicines face not only challenges in the lab but must also grapple with a raft of public policy and regulatory issues. Crucial to establishing dialogue with these stakeholders is a communications strategy that resonates with payers and meets patient needs. For PR professionals and other communicators, treatments based on genetic information offer an opportunity to educate the public about the future of healthcare.

To put it simply, personalized medicine – genetic testing of individuals to make a diagnosis, determine and tailor an effective treatment, or identify susceptibility to a heritable condition – is the future of medicine. In fact, it has been the future of medicine for at least a decade, since the day in June 2000 when President Clinton announced that the Human Genome Project had achieved its initial goal of completing a “working draft” of the human genome. That milestone was followed by another in 2003, when the scientists working on the project declared that they had successfully sequenced the three billion DNA letters in the human genome.

What they had done, in a sense, was identify the pieces of an enormous, unimaginably complicated jigsaw puzzle. What researchers have been trying to do ever since is to fit those pieces together in ways that can help them diagnose, treat and even cure cancer, heart disease and other conditions.

So far, more than 1,500 disease-related genes have been identified, including genes for breast cancer and colorectal cancer, as well as genes linked to autism, macular degeneration and Type 2 diabetes. But thanks to the daunting complexity of the disease process – many genetic pathways, it turns out, are tangled up with each other and influenced by external factors such as lifestyle – the medical revolution that many believed was just around the corner has been slow in arriving.

Transformation and challenge
There have been breakthroughs. The treatment of HIV, for example, has been transformed by a battery of molecular tests that enable doctors, on a case-by-case basis, to attack the rapidly mutating virus with just the right combination of drugs. As a result, a diagnosis that was once the equivalent of a death sentence has become, in effect, a chronic, manageable condition.

Increasingly, that molecular diagnostic model is also taking hold in cancer wards, where the push is on to identify which specific patients are the best candidates for so-called “targeted” therapies, which fight cancer by interfering with the molecular processes that feed the growth of cancer cells. Oncologists have long known that only a certain percentage of patients realize a benefit from these drugs; if they can figure out the exact genetic mutations those patients have in common and develop an effective screening test for them, they can make more efficient and effective use of the costly and powerful drugs. A better understanding of which drugs work and which don’t for certain patients will also aid in the search for new therapies.

The enormity of the challenge in developing new treatments based on genetic information is illustrated by the work on Duchenne’s Muscular Dystrophy, one of the first disorders to be linked to a specific gene. Over the last 20 years, researchers have identified more than 25 different mutations that can cause the fatal disease and they are learning how to tailor treatment based on which of these many mutations a patient carries. Breast cancer has also been broken down into three different diseases, each with a different prognosis and treatment protocol, based largely on what proteins the tumor is over-expressing. Eventually, experts say, all cancers will be diagnosed not simply by location in the body, but by their molecular profiles.

Modest clinical progress, however, has not dampened public interest in genetic testing. The routine genetic screening of newborns for dozens of genetic disorders has contributed to public awareness and acceptance. And so too have shows like Faces of America, which used genetics to trace the family roots of well-known people like Stephen Colbert and Meryl Streep. Indeed, new research out of Johns Hopkins found that a majority of Americans want to know their genetic risk for disease, regardless of how large or small that risk might be. Eighty percent of those surveyed are in favor of a national study of how genes, the environment and lifestyle interact; 60 percent said they would allow their DNA to be used for the research.

This enthusiasm for personalized medicine is shared, understandably, by leaders in the field. Writing for Newsweek.com last December, George Church, professor of genetics at Harvard Medical School, made “the case for having your genes sequenced”. In a piece called The Genome Generation, Church predicted that the cost for sequencing an individual’s entire genome, currently about $5,000, will eventually reach $100 or lower. (It cost $3bn to sequence the first human genome.)

Church went on to sketch out the potential benefits to society of what he called “personal genomics”. These included progress against infectious diseases like TB in the developing world as low-cost genomics facilitate the monitoring of disease-causing microbes and the emergence of drug-resistant strains. Church also cited the potential risks to privacy and the need for careful regulation to prevent discrimination based on an individual’s genome. He also posed an awesome challenge. “Our genomes are a vast future resource,” he wrote. “How we handle them will define us as a species.”

The cart before the horse?
Perhaps not surprisingly, the commercial marketing of genetic testing has seemingly outpaced the clinical applications of personalized medicine. A number of companies offering direct-to-consumer genomics have sprung up over the last few years. For fees that range from hundreds to thousands of dollars, depending on the type and extent of testing done, they can tell customers whether, for example, they carry any genes that have been linked to certain cancers or other diseases. Of course, the problem is, there’s not really much that a healthy individual can actually to with such information, except scare themselves. Most “disease-related” genes are not sufficiently predictive to be acted on. In most cases, it’s more useful to know your family history of a disease than to know that you carry one of the genes that has been linked to it.

And there are other concerns when it comes to the marketing of genetic information. The FDA recently sent letters to five personal genomics companies stating that the companies’ tests qualify as medical devices and require clearance by the agency because they are “intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment or prevention of disease.” What got the FDA’s attention, apparently, were what it said were changes in the companies’ claims over the years from vague come-ons about the importance of knowing your genetic “profile” to more specific suggestions that the test results could be used to make decisions about, for example, which drugs to use.

Future potential
For the pharma and biotech companies doing the real work, the ever-quickening evolution of personalized medicine brings with it not just technical challenges in the lab, but a raft of public policy and regulatory issues that need to be addressed and effectively managed if the field is going to realize its full potential.

And for PR professionals and other communicators, personalized medicine offers an opportunity to educate the public about a challenging, dynamic field, and usher in an exciting new era in healthcare. Ten years on from that first big announcement, the future continues to beckon.

The Author
Helene Ellison, chair, Worldwide Healthcare Practice, Burson-Marsteller