PERSONALIZED MEDICINE- A MODEL

FOR CUSTOMIZATION OF HEALTHCARE

Anindya Bose1*, Somnath Mukherjee2

1 Dr. B. C. Roy College of Pharmacy and Allied Health Sciences, Dr. Meghnad Saha Sarani, Durgapur-713 206, India.

2 Laboratory Automation Services, HCL Technologies Ltd, New Town, Rajarhat, Dist North 24 Parganas, Kolkata - 700 156.

*Corresponding author:

E-mail: anindyabose_in@yahoo.com

Tel: +91 343 2532678;

Fax: +91 343 2532679.

Running title: Personalized medicine model


ABSTRACT

There is an urgent demand for rectification of the “one-size-fits-all” method of treatment using personalized medicine model. Personalized medicine involves the determination of an individual’s unique genetic profile with respect to disease risk and drug response to optimize preventive health care strategies while people are still well or at the earliest stages of disease. Personalized medicine also helps to address the serious adverse drug reactions (ADRs) that not only are very costly but are responsible for thousands of deaths each year. However, the potential benefits of personalized medicine cannot be realized until certain obstacles in its adoption in its adoption are removed. These obstacles include uncertain regulatory requirements, insufficient insurance reimbursement for diagnostic tests linked to pre-emptive care, incomplete legal protections to prevent genetic discrimination, the lack of a comprehensive healthcare information technology system, and the present “one-size-fits-all” medical education system.

Keywords: Personalized medicine, adverse drug reactions (ADRs), patent, single nucleotide polymorphisms (SNPs).


INTRODUCTION

There are different levels of variation among individuals that could account for the varying outcomes of drug therapy, such as patients’ different drug absorption, distribution, metabolism, and excretion (ADME) profiles measurable at organ, tissue, or cellular levels and more fundamental differences at molecular levels. In current drug therapeutics world, it is widely observed that a drug doesn’t work for all the patients all of the time. Drugs do not have the desired outcome in 30%–40% of patients on an average, even the blockbuster drugs are often efficacious in 40%–60% of the patients, and it is not unusual to see chemotherapy working for only 30% of cancer patients1, 2. In addition, drugs can at times cause adverse drug reactions (ADRs), with some more severe than others. Moreover, the traditional clinical diagnosis and management focuses on the individual patient's clinical signs and symptoms, medical and family history, and data from laboratory and imaging evaluation to diagnose and treat illnesses. This is often a reactive approach to treatment, i.e., treatment starts after the signs and symptoms appear.

It is obvious that there is an urgent demand for personalization of healthcare for individual patient to rectify the “one-size-fits-all” method of treatment. Personalized medicine involves the determination of an individual’s unique genetic profile with respect to disease risk and drug response. It also involves classifying patients with the same phenotypic disease profile into smaller subpopulations, as defined by genetic variations associated with disease, drug response or both. In simple terms, it means knowing what works, knowing why it works, knowing who it works for, and applying that knowledge for patients. The assumption underlying this approach is that drug therapy in genetically defined subpopulations can be more efficacious and less toxic than in a broad population. The goals of personalize medicine are to take advantage of a molecular understanding of disease, combined with other individual factors, to optimize preventive health care strategies while people are still well or at the earliest stages of disease. In addition, this knowledge might prevent the negative side effects of the “one-size-fits-all” method of prescribing drugs that most often is used today.

Although, personalized medicine has always been at the heart of the doctor-patient relationship, with doctors considering such factors as family history and lifestyle when recommending treatment. Now there is hope that a more sophisticated version of personalized medicine will emerge from recent findings in genetic and molecular biology and from advances in imaging that are opening the door to new knowledge of the causes of disease and new treatment strategies. This new science of personalized medicine has the potential to eliminate unnecessary treatments, reduce the incidence of adverse reactions to drugs, increase the efficacy of treatments and ultimately, improve health outcomes. This new approach in the science of medicine is embodied with four attributes:

1. It is personalized; it is based on an understanding of how genetic variation drives individual treatment.

2. It is predictive; it is able to identify what conditions a person might contract in the future and how the person will respond to a given treatment, enabling the development of a tailored health strategy.

3. It is preventive; it facilitates a proactive approach to health and medicine, which shifts the focus from illness to wellness.

4. It is participatory; it empowers patients to make informed choices and take responsibility for their own health.

PERSONALIZED MEDICINE MARKET POTENTIAL

Pharmaceutical industry view the prospect of smaller markets and shrinking revenues as the greatest challenge they will face over the next decade, as blockbuster drug patents continue to expire (Figure 1). Hence the big pharmaceutical companies are trying to discover and develop tailored therapies for smaller markets. The concept of tailoring is not new to the industry; for years, companies have segmented customers by type of disease and used biomarkers such as cholesterol levels to guide treatment decisions. However, the development of new therapeutics based on genomics and proteomics will require an entirely new level of tailoring. John Lechleiter, chairman and chief executive officer of Eli Lilly and Company commented in this context that “our business model will accommodate personalized medicine—in fact, it may depend on it.” Lechleiter acknowledges his peers’ concern over replacing the revenues lost from blockbuster drugs, but he sees a viable new revenue model emerging: “Instead of getting a relatively small share of a really large pie—the traditional blockbuster model—a tailored therapy could expect to claim a relatively large share of a more segmented pie.” 3

Personalized medicine market is growing rapidly while still in the early stages, personalized medicine is steadily emerging as the new healthcare paradigm. According to PricewaterhouseCoopers’ estimates, the US core diagnostic and therapeutic segment of the market—comprised primarily of pharmaceutical, medical device and diagnostics companies—is estimated at $24 billion, and is expected to grow by 10% annually, reaching $42 billion by 20154. The personalized medical care portion of the market—including telemedicine, health information technology, and disease management services offered by traditional health and technology companies—is estimated at $4-12 billion and could grow tenfold to over $100 billion by 2015. And the related nutrition and wellness market—including retail, complementary and alternative medicine offered by consumer products, food and beverage, leisure and retail companies—is estimated at $196 billion and projected to grow by 7% annually to over $290 billion by (Figure 2) .

While the market for personalized medicine diagnostics and therapeutics shows great potential, the biggest opportunities exist beyond these core products and services— particularly in less traditional, more consumer-oriented areas. The nutrition and wellness market— including retail health, complementary and alternative medicine, nutraceuticals and organic care, and health clubs and spas—is estimated at $196 billion and projected to grow by 7% annually to $292 billion by 2015. The personalized medical care portion of the market—including telemedicine, electronic medical records, and disease management services—is estimated at $4 billion to $12 billion and could grow tenfold to over $100 billion by 2015. This segment is largely comprised of a range of healthcare players, as well as information technology companies that are starting to enter the space.

Such robust market size and growth potential will continue to attract many new players and require the development of new business models. A wide variety of organizations are entering this space, including consumer products, food and beverage, leisure and retail companies, as well as more traditional health companies that are successful in marketing directly to consumers. There are other products and services related to the field of personalized medicine, such as genetically modified food and stem cell products. The growth of these newly emerging submarkets is difficult to predict.

Figure 1: Value of patent expiries (in USD) between 2001-2015

Figure 2 : Personalized medicine market size in 2009 and 2015

THE SCIENCE OF PERSONALIZED MEDICINE

An individual’s reaction to a particular drug depends, in large part, upon whether the drug’s target cells have the proper receptors for the chemical compound being delivered and on how the individual metabolizes the drug. Ultra rapid metabolism of a drug can cause it to be ineffective and slow or non-metabolism can result in the accumulation of toxic amounts of the drug in the body. Genes control both these factors, the receptor binding sites and the enzymes involved in metabolism. Scientists believe there are 20,000 to 25,000 genes in the human body. About 99.9% of the DNA sequence is identical in all people, according to the National Human Genome Research Institute. But the 0.1 percent difference is critical because it represents the genetic variations that determine a person’s risk for getting a disease, how mild or severe the disease will be and how the individual will respond to treatment.

Single nucleotide polymorphisms (SNPs)

In a human genome sequence of three

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