Debunking the pretense of precision medicine

By:

Apr 15, 2016

Obama PMI twitter cropped

Last year, President Obama proposed an outline for the Precision Medicine Initiative (PMI), with the intention of empowering patients, researchers, and healthcare providers to work together towards the development of highly effective personalized care. Since then, the initiative has received broad support across key stake holders, from academic and research institutions to healthcare companies and government agencies.

But a small minority of questioning voices have also been present. Among these contrarian views, a recent article in the Scientific American cites a number of paradoxical examples where expensive drugs or procedures, customized for genetic make-up of patients, have performed no better than simpler and standardized methods that are also extremely low cost. The article questions whether the initiative to develop more effective and affordable solutions might lead healthcare to become even more expensive. Is PMI a potentially doomed effort?

The fate of the PMI is certainly too early to tell, but the contradicting issues of precision medicine are rooted in a misunderstanding of what the term actually means. Precision medicine was first defined by Clayton Christensen in The Innovator’s Prescription, as a provision of care for diseases that can be precisely diagnosed, whose causes are understood, and which consequently can be treated with rules-based therapies that are predictively effective. In fact, Christensen clarified in the same book that he was introducing a new term, precision medicine, to distinguish it from personalized medicine, “because most precisely diagnosed diseases are in fact not uniquely personal.”

We see over and over that diseases of which we have precise understanding do not have personalized treatment methods. Instead, we cure these diseases by simple and standardized solutions that are low cost. Bacterial infections are cured by taking antibiotics. Many diseases caused by viruses are prevented via vaccines or treated by drugs targeting the viral mechanisms. Conversely, personalization of treatment often occurs in diseases where we do not have a good understanding of what is causing the disease.

The history of gastric ulcers provides a unique perspective into diseases that used to be treated with personalization and are now treated with precision medicine, thanks to advances in diagnostics of real causes and ability to eradicate them. For more than 100 years, gastric ulcers were thought to be caused by an over-abundance of acid in the stomach leading to the emergence of a huge industry. Billions of dollars were spent on drugs that minimized the production of acid. Millions more were spent advertising diets that lowered stomach acidity. Since acid levels vary from person to person, these solutions required constant adjustment and customization. Unfortunately, controlling acid levels was ineffective for most ulcer patients, because more than 90% of stomach ulcers were in fact being caused by bacteria. Since the discovery of the H. pylori bacteria in early 1980s, most gastric ulcers are now effectively treated using low-cost antibiotics.

Without precise understanding of the cause and progression of a disease, we tend to focus on treating symptoms. Symptoms vary from person to person, and alleviating symptoms does not cure the disease. Because some symptoms are shared by many diseases, chasing symptoms can lead to wrong conclusions regarding the cause. Another problem is that the market innovations that transform acute diseases into chronic ones is much larger than the market for drugs that transform chronic diseases into acute ones. Today, most of the drugs and devices we use to treat diseases allow us to live with the diseases, instead of curing us from them. While these products form multibillion dollar industries, the market for products that actually cure the diseases is much smaller. Symptom-focused care industries can become so big that they’re unable to change, even when the right solution emerges.

Unlike precision medicine, personalized medicine can be extremely time-consuming and costly. Sophisticated genetic analysis of cystic fibrosis patients, for example, has led to a symptom treatment that costs $300,000 per year and is effective for less than 5% of the disease population. It becomes clear that relying on personalization without understanding the root causes will likely lead to expensive solutions that do little to eradicate disease.

A national initiative should not be based on such a costly, myopic approach–especially when a time-tested and proven method of precision medicine already exists. Rather than misuse the term “precision” to advocate on behalf of personalized medicine, the PMI should reflect and encourage the true meaning of precision medicine: a precise standardization of treatment based on understanding the root causes of disease.

Spencer Nam

Spencer researches disruptive innovation in the healthcare industry. He has over 15 years of professional experience working with U.S. and international healthcare enterprises, most recently as an equity research analyst covering medical technology companies.

  • Jean Wright

    I agree that there are some gaps in the understanding of terms, but I think there is an opportunity for “BOTH-AND” in this situation. There are many diseases that have a demonstrated way to either cure the underlying problem, or effectively manage the symptoms. The current day reality is that despite the existence of knowledge of “WHAT WORKS”, the dissemination of that knowledge to those that would benefit from it, is sparse. Adding to that disease based knowledge, is the emerging field of pharmacogenomics. So a drug emerges that is demonstrated to be effective. But it may be effective in some, not all, due to the person’s specific genetics. The day is here when drug-gene testing is available; but again, to some not all. We need the precision to target those that would benefit. Treatment of Hep C is a perfect example. Lastly, many patients with chronic conditions, like COPD, wish to focus on their burden of illness. Perhaps they want to see a daughter get married, or be able to grocery shop without carrying oxygen with them. For them, personalizing the focus of care around the symptoms that impact their outcomes, and their quality of life, is essential. So can we find a place for “BOTH AND” ?

    • Spencer Nam

      Hi Jean, Thanks very much for your perspective. I agree that this discussion is not a zero-sum situation, and there is plenty of room and need for both standardization and personalization efforts to continue. Certainly, we must do everything we can to help those suffering from debilitating symptoms to be relieved of pain and improve quality of life. From a global perspective on diseases, however, we are of the opinion that the core mission of our national programs such as the PMI should be focused on getting to the bottom of the issue, as in what exactly is causing COPD, for example? Currently, if we read literature on causes of COPD, it’s somewhere between cigarette smoking (some say most and others say ~25%), genetic susceptibility (the extent of which is still debated), and other factors. If cigarette smoking can be isolated as a main cause, it will lead to specific preventative actions that could significantly reduce the patient volume and late-stage suffering. Today, no broad effort of such nature is known. Our hope is the term “precision” is primarily used to define precisely identifying the cause, instead of precisely targeting individuals who will positively react to treatment. The former will significantly reduce cost of care over time, but the latter could significantly increase the cost of care. Speaking of HCV treatment, Sovaldi/Harvoni has been a huge win for us in treating HCV, and it might be worth every penny to have that drug. In fact, it was the most prescribed drug in the U.S. in 2015 ($14.3B). But, the next four most prescribed drugs (Humira – $10.6B; Enbrel – $6.6B; Crestor – $6.3B; Lantus SoloStar – $5.8B) were all just treating the symptoms of the underlying diseases. Because these drugs are not curing their respective diseases, it is certain that we will be spending more and more on these and other drugs of similar nature. We are concerned that this is becoming too common in the healthcare industry, and we hope that the new drug and device developments focus on the precise cause instead of precise patient.