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Patient-centric Genomics

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Market Creation of Personalized Whole
Genome Sequencing
Solution to developing patient-centric Healthcare
Hee Gun Eom

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The Problem and Opportunity
Introduction: Genome Sequencing Cost
One of the prerequisite when talking about genomics and s...

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consumers. Genome sequencing does not offer economical value yet, because there is not a
defined market for personalized m...

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Patient-centric Genomics

  1. 1. Market Creation of Personalized Whole Genome Sequencing Solution to developing patient-centric Healthcare Hee Gun Eom
  2. 2. The Problem and Opportunity Introduction: Genome Sequencing Cost One of the prerequisite when talking about genomics and source of excitement in our contemporary is summarized by figure 1. Since the completion of the Human Genome Project in 2003, which cost approximately 3 billion dollars, the cost of sequencing the human genome has been plummeting. This has allowed abundance in genomic data and any modern biological research lab, access to sequencing; not only of the human genome, but every living organism. This development has often been compared to Moore’s Law* a driving force that keeps the information technology industry innovating and highly productive. As indicated in figure 1 since January 2008, genetic sequencing has been out-pacing Moore’s Law by a large margin. Most recently an offshoot of the Personal Genome Project, the brainchild of George Church, Veritas Genetics has started to offer the $999 genome, a price point that will allow faster consumer** adoption of human genomics. (Nanalyze, 2016) The cost of sequencing is speculated to keep dropping and allow more individuals to get their genome sequenced. The cost of genome sequencing is no longer the rate-limiting step. However, diffusion of genome sequencing to healthcare has been slow and disappointing. Once promised as the catalyst to create a more innovative healthcare industry, genomics has been stuck in laboratories, providing little economic benefit to average Figure 1 Costper Genome in function of time and compared to rate of Moore’s Law. Courtesy of (NGRI, 2016)
  3. 3. consumers. Genome sequencing does not offer economical value yet, because there is not a defined market for personalized medicine or a value network that can deliver the care the consumers need. This paper will outline the current landscape of healthcare and personal genomics to speculate its potentiality. Using innovation theories, this paper will aim to provide a clear strategy in creating a new market of patient-centric whole genome sequencing; a new paradigm that has the potential to disrupt current healthcare industry and improve health and wellness of patients. *Observationmade byGordonMoore,co-founderof Intel,thatthe numberof transistorspersquare inchon integratedcircuitshaddoubledeveryyearsince the integratedcircuitwasinvented **Consumersandpatientswill be usedinterchangeablytoexpressthatnature of patient-centric healthcare where,patientsbecomeactive consumersintheirownhealth&wellness. Personalized, Preventative, Precision, and Participatory What is the goal of commercializing genomic data? As of now genetic sequencing has yielded significant scientific insight and has propelled biological research to a quantitative discipline. However, it has yet to produce economical value in reducing healthcare cost, drug development, personalize care; economic benefits that effects the general consumer population. In our contemporary, immense advances in basic scientific knowledge in biology and new biomedical technology are being gained and developed, however the healthcare industry has been unable to translate these technologies to innovative solutions that benefits the patients. The value that genetic data can offer society is best summarized by Leroy Hood’s P4 medicine model. P4 standing for: predictive, preventive, personalized, and participatory. With patient’s entire genomes sequenced, it will provide crucial insights into optimizing wellness, and allow us to detect many diseases before symptoms appear allowing predictive capability to medicine. Instead of medicine focusing on disease as it does today, the focus will be on wellness and the patient taking active preventive measures from getting ill. Every individual is differentiated by his or her genomic deposition and micro and macro environment that demands a personalized approach in maintaining health and curing diseases. Genomics can provide a stratified model according to genetic make-up of the individual and allow
  4. 4. treatments to be individually optimized. Finally, patient-driven networks will drive this revolution in medicine, as patients become active participant in their well-being. (Hood) Table 1 isprovidedcourtesyof (Hood,2013) Adoption of P4 medicine will shift medicine from reactive medicine to patient-centric healthcare. In our contemporary healthcare services are only used after a patient falls ill. There is little emphasize in preventative medicine, and the healthcare industry plays little role in keeping people healthy. In the current system, there is more economic incentive for patients to fall ill, because he/she consumes more products and services. However, in the new paradigm, disease-centric model will be replaced by wellness maintenance system, in which economic incentive drives consumers to be healthy and healthcare industry sell product and service that complements this model. Different elements from table 1 will be continually referenced to gain a complete understanding of this new paradigm. Complementary to P4 medicine, the NIH (National Institutes of Health) uses, Precision medicine defined as: a groundbreaking approach to disease prevention and treatment based on people’s individual differences in environment, genes and lifestyle. (NIH, 2016) This definition
  5. 5. overlaps with the P4 medicine model proposed by Hood. Precision medicine will be better utilized in this paper to describe a rule-based medicine proposed by Clayton Christensen. Intuitive to Precision Medicine (Rules-based medicine) The human body has a very limited vocabulary from which it can draw when it needs to declare the presence of disease. When we cannot properly diagnose the underlying disease or the context in which the patient may or may not be able to respond to treatment, effective care generally could only be provided through intuition and experience of highly trained (and expensive) doctors. (Christensen, Grossman, & Hwang, 2009) The intuitive nature and unpredictability of diseases have historically kept patients, consumers with no prior medical knowledge, to rely on expert doctors to make consumer decision on their health and wellness. Effectively, patients receive the care, but play little role in preventing or participating in their health. This has promoted reactive medicine, treating the patient only after they get sick, and little emphasize, in proactive wellness maintenance. Medical information and records were never diffused to the patients, in argument of patient protection, creating an asymmetry of information leading to where patients have no market influence. However, investment in basic research have developed technologies and scientific basis that enable precision care. Biotechnology advances in diagnosis and better understanding of disease’s molecular pathways; more diseases are moving from the realm of intuitive medicine to precision medicine. Provision of care for diseases that can be precisely diagnosed, whose causes are understood, consequently can be treated with rules-based therapies that are predictably effective. The end goal of rules-based therapies is the conversion of complex, intuitive process into simple, rules-based medicine allowing handoff of the work from expensive highly trained experts to less costly technicians. (Christensen, Grossman, & Hwang, 2009) Rules-based medicine is vital in reducing healthcare cost and making healthcare more accessible. When a product and service is predictable and the value of the product/service can be easily evaluated, it creates a more competitive market driving the cost down and value up. Accessibility is increased as nature of healthcare delivery is not only limited by doctors or traditional healthcare providers, it can come from various sources. Contemporary healthcare
  6. 6. system has been allergic to innovation, because of the dogma that healthcare must come from safe and reliable sources. However, as it will be explained later in whole genome innovation, the need to harness disruptive innovation strategy is vital in creating a healthcare system that is affordable and accessible. Of course intuitive and precision medicine are not binary states; there is a broad domain in the middle that we term empirical medicine. Practice of empirical medicine occurs when a field has progressed into an era of “pattern recognition”. (Christensen, Grossman, & Hwang, 2009) Disease states are shown in spectrum from intuitive to precision medicine, with varying levels of predictability. Figure 2 shows the spectrum of common diseases. The x-axisrepresentsthe mechanismof the disease,whetheritisthe molecularpathwaysunderlying the disease ordiagnosticcapabilitytoidentifythe disease thisdefinesunderstandingandidentifyingthe problem.The y-axisrepresentsthe treatmentefficacywhichcancome from drugs,therapeutics,or lifestyle changes.(Graphcourtesyof TheInnovator’sPrescription a DisruptiveSolution forHealthcareby Clayton M.Christensen)
  7. 7. There is no magic technology that will allow all these diseases to move from intuitive to rules- based medicine. Research will have to be conducted disease by disease, to slowly move up the spectrum, where diagnosis and treatment can be routinized. (Christensen, Grossman, & Hwang, 2009) However, genomics can serve as a technological enabler to fasten the pace of research to bringing disease states to intuition to precision. When large patient population have their genomes sequence, it allows stratification of patients, that allow drug development to move from, population-based blockbuster drug model to personalized, disease-specificdrug development process. Clinical studies, one of the costliest portion of drug development can change to a stratified model, in which drugs and therapeutics are developed to specific genomic-based, patient population. Furthermore, chronic disease such as: heart disease, stroke, type 2 diabetes, and obesity can be managed through personalized preventative measure. Empowering the patient with their genomic data, and providing a point of care that prevents, or manages the chronic illness; will be a major step toward alleviating these diseases. However, for this to become a reality, it is important to shift the paradigm of medicine from, paternalistic care where patients received care, playing no participatory role in their health; to where patients are active participants in health and wellness of their own body. Asymmetry of Information Healthcare is a non-consumer market. On a consumer level, the customer or patient that gets the end benefit of the product or service are non-consumers, in that they do not drive the market or have an active purchasing power. In reality, there are three customers, each making independent decisions for selection, purchasing, and utilization of most healthcare products. One customer is the decision-maker who decides which product should be used (doctors), another customer makes an independent decision whether or not to pay for the product (payer), and a totally different customer uses the product (patient). (Shimasaki, 2014) This segmentation of the consumers naturally has developed as medicine is an intuitive science; needed professionals (doctors) to make expert decision and diagnosis for the patient’s safety and benefit.
  8. 8. The disconnect between what consumers can learn and how they can use what they learn, results in this inability for them to truly be the drivers in their own healthcare decisions. Information asymmetry, defined as a gap in knowledge between consumers and professionals regarding price and quality, is one of the major factors that makes healthcare delivery inefficient. (D'Cruz & Kini, 2007) Healthcare is characterized by extremely high level of uncertainty and the consumers’ uncertainty about the consequences of purchasing healthcare services. Patients as consumer have an inherent inability to fully understand the effectiveness of medical treatments. Under these conditions of uncertainty, correct information becomes a valuable commodity. (Arrow, 1963) The need to develop a coherent platform in which provides consumers with actionable, coherent personalized healthcare data is vital in making an effective healthcare industry. As intuitive medicine moves up the spectrum to precision medicine, the uncertainty that drove information asymmetry will be less elusive and patients will be able to assess the effectiveness and value of the care they receive. The information asymmetry gap is closing in, disease by disease, however healthcare will never be truly personalized until the patients have access to their healthcare data, and become active consumers in assessing the quality and value of care. Electronic health record is a prime example of how information is being generated, but are balkanized, and does not benefit the patient. In the United States, health data live in a plethora of places, from electronic health record (EHR) systems, insurance claims databases, siloes of personal health apps, research and clinical trial databases imagining files and lots of paper; resemblance of an overarching organization or standardization of medical data are lacking. Disorganization and balkanization contribute to poor outcomes and death. The US Department of Health and Human Services, estimates 20% of preventable medical errors are due to lack of immediate access to health information. Of the estimated 400,000 preventable medical errors leading to death in the United States annually, we can project 80,000 people die every year because of the lack of needed access to medical information. (Topol & Kish, 2015) In the decentralized and fragmented nature of the health care delivery systemor “non-system”, patients see multiple providers in different settings, none of whom has access to complete
  9. 9. information, it becomes easier for things to go wrong. (Kohn, Corrigan, & Donaldson, 1999) The only solution is a patient-centric model, where patients own their data and healthcare providers utilize this information to deliver effective care. Patient ownership of their healthcare data is the first step in making a personalized point of care. It promotes patients to be actively engaged in their healthcare and preventative measures. Technical Limitation (Needs to be more technical) Genetic sequencing and the science of genome is a knowledge base innovation, where scientific knowledge is the enabling product of economical productivity. Reduced cost in sequencing enables reading of the genome, however the sequence in itself does not provide economic benefit. Only when the sequenced genome is annotated, analyzed, and is translated to actionable clinical decision is when the genome is finally of productive use. However, the human genome is not as simple as it seems. When the human genome project was completed in 2001, it was discovered that over 98 per cent of the DNA in a human cell is junk. (Carey, 2015) The conventional knowledge is that DNA is transcribed to RNA and translated to proteins, which have functional biological activity that enables cellular activity. However only 2 per cent of the DNA codes for functional proteins; this seems like an excess waste of 98 per cent of the genome. In the last few years, it has been recognized, a major role of junk DNA is to regulate gene expression. (Carey, 2015) (More research ENCODE) Can we make genetic research more rule-based? Only using genomic data to precisely diagnose complex disease is not the end goal. It is actually impossible. Diabetes, have polygenetic markers that make it complex to diagnosis through genetic sequence, but relatively simple through blood test. The role of genetic testing is not to replace traditional diagnostic methods, but to complement it. The patient’s genome combined with electronic health records, family history, diagnostic tests, and any patient generated data can add to creating a clear picture of a personalized map of a patient’s health status. More importantly in should be the technology that shifts the paradigm from reactive medicine to a proactive patient-centric health care by making it accessible to non-consumers.
  10. 10. HAPMAP Project GWAS: how population level genomics can move medicine to an empirical to rule-based (GWAS is promising, but using the wrong technology, using SNP because of cost effectiveness and accessibility; whole human genome GWAS will be the next step) After whole genome sequence has been performed the patient’s genome can be stored for future evaluation. As new medical questions arise the genomic data can be reanalyzed. (Chrystoja & Diamandis, 2014) The human genome is a static dataset in which, in changes little over the course of the patients life. Genomes can be re-sequence to improve accuracy of the genome sequence. However, the genome, once sequenced will continually add value to the patient as more genes are discovered to further our understanding of our health. There are efforts to commercialize SNP and whole exome sequencing, however it is my belief that whole genome sequencing will drop in price rapidly and will far out-pace the cost, data ratio making it the standard in personalized medicine. Because everyone has a risk for developing at least one disease and whole genome sequencing can expand the accuracy of family history, whole genome sequencing is economical in preventative care. Every genome sequenced offers value, as it provides a reference for an individual’s family, as well as for the general population. In our opinion, as medical genomic information becomes better integrate, the combined dataset will be an even greater value to the patient, their family and society. (Jacob, Abrams, & Bick, 2013) The promise of patient-centric whole genome sequencing is immense. It has the potential to create a new paradigm in how healthcare is delivered and practiced. No matter the limitation, promotion of personalized systemwill dramatically reduce healthcare cost, increase patient safety, and health. However, the importance in a patient-centric healthcare is the accessibility and ownership of data. The enabling technology that will allow patients, conventionally non-consumers, to be active participations in their well-being. Innovative approaches in adapting whole genome sequencing is required to make genome sequencing available for all consumer population in cost effective way.
  11. 11. Market Creation Nature of Innovation To ask the right questions we need to first understand the nature of innovation. More specifically knowledge based innovation where scientific knowledge is the underlying driver to innovation. Knowledge-based innovation requires careful analysis of all the necessary factors, whether knowledge itself, or social, economic, or perceptual factors. The analysis must identify what factors are not yet available so that the entrepreneur can decide whether these missing factors can be produced. (Drucker, 1985) Genetic sequencing has been plummeting in cost and the cost of sequencing will soon reach a point where it will be available for any patient and consumer. However, sequencing the genome is only the first step, the genome must be contextualized and specific genes must be identified that can provide accurate diagnostics of the patient’s health. As of now, our knowledge of the human genome is sparse, limiting widespread adoption of human genome in clinical settings. The dilemma is that even through patients get their genome sequenced, doctors are limited in what they can do with this information, because there is only a small amount of biomarkers that are clinical actionable. Furthermore, doctors have traditional diagnostic tools, such as blood test, that are proven to work and less expensive. However, the irony is that more genomes must be sequenced to contextualize and gain a better understanding of the genome. Similar to the GWAS (Genomic Wide association study) approach, the quality and quantity of genetic information is vital to creating a population wide study that can produce novel knowledge about out genome. Job-to-be Done In the frenzy of new technology and attempt to market it, people involved in developing these innovative products lose sight of the end goal. Majority of the consumers are not buying the new technology. They are buying it because it gets a job done. Introduced by Clayton Christensen, the Job-to-be Done framework simplifies consumer behavior. Jobs arise in consumers lives that they need to be done, they hire products or services to do these jobs, the
  12. 12. job and not the customer or the product, should be the fundamental unit of marketing analysis. (Christensen) The job-to-be done is a flexible unit of marketing analysis as the same product can do multiple jobs or might appeal to multiple customer segments. We will continually go back to this frame of thinking to re-analyze the market and elucidate what job genomics can do for consumers. Disruptive Innovation A disruptive innovation is not a breakthrough improvement. Instead of sustaining the traditional trajectory of improvement in the original plane of competition, the disruptor brings to market a product or service that is actually not as good as those that the leading companies have been selling in their market. However, though they don't perform as well as the original products or services, disruptive innovations are simpler and more affordable. This allows them to take root in a simple, undemanding application, targeting customers who were previously non-consumers because they had lacked the money or skill to buy and use the products sold in the original plane of competition. (Christensen)
  13. 13. Figure X summarized disruptive innovation in planes of time, performance and non-consumers. Applying this idea to whole genome sequencing, we begin to envision how to create a patient- centric healthcare market. The sustaining innovation spectrum, is the traditional healthcare system in which it has been moving up the pace of performance over time. Sustaining innovation has created products and services that are nothing short of miracles, MRI machine, …., and it has far crossed the performance improvement that customers can utilize. An important caveat to this domain, is that the customers, are doctors or healthcare providers. The patient receives the care, but the active consumer with purchasing power are the doctors and healthcare providers. Moving up the z-axis the non-consumers are the patients or general consumers that play little role in the current healthcare industry. Now the question is, what form of disruptive innovation, a product that is simpler and more affordable, will allow healthcare to move up the non-consumer axis to target the general consumers. To understand this, we need to introduce another concept: crossing the chasm and the technology adoption lifecycle. Value Network A key contributor to this costliness, however, is that the primary business models being used to care for these patients— physicians' practices and hospitals— were primarily set up to deal with acute diseases. They make money when people are sick, not by keeping them well. There are more than 9,000 billing codes for individual procedures and units of care. But there is not a single billing code for patient adherence or improvement, or for helping patients stay well. (Christensen, Grossman, & Hwang, 2009)
  14. 14. Crossing the Genome Chasm The Chasmwas introduced by Geoffrey Moore in his book “Crossing the Chasm: Marketing and Selling High-Tech Products to Mainstream Customers” to explain the technology adoption lifecycle and the chasmthat divides the early adopters from the early majority. Although originally developed with the information technology industry in mind, this model is highly applicable in all areas of high technology, and the human genome in this instant. However, because healthcare is not a traditional consumer market we need to redefine the market segments to define the customer at each market and the willingness to adopt new technology. Innovators are defined by technology enthusiasts that are first in line to get the newest technology, even if the product is expensive and lack functionality. However, at this market segment, the product is still un-tested and at the early stage of adoption. It provides little value to the individual with their genome sequenced. These individuals with their genome sequenced is not in it for the value it provides, but the excitement and opportunity that the technology can buy. These are the few consumers that buy for the sake of buying the technology. In genetic sequencing the innovator can be described as individuals that have already had their genomes sequenced as part of a research effort led by government or universities.
  15. 15. Early Adopters are visionaries that see the potentiality of the technology as a business goal and see how it can radical change how the industry operates. This can include anyone from innovative doctors that what to try out new technologies, or entrepreneurs that believe genome sequencing have the potential to redefine healthcare. It can be said that in our contemporary, human genome sequencing is about to cross onto the early adopter market segment. There are a few start-up companies that aim to commercialized whole genome sequencing. However, these products /services still only appeal to early adopters. Whole genomics sequencing has potential but provides little value to appeal to the early majority market segment. It is how these companies cross the chasmto provide a product/service that appeals to the early majority consumer market is vital to success of commercializing whole human genomics. Contemporary early adopter companies run the risk of, not being able to cross the chasm, unable to cross to the early majority market where most of the consumers lie. The chasm is the dividing line between the early start-up period to creation of mainstream markets. This is where most high-technology fortunes are made or lost. (Moore, 1991) The companies that are successfully able to cross the chasmand grab the mainstream market customers, set the de facto standard and have the ability to define the market. Two main strategies in crossing the chasm defined in Moore’s book is: find niche market with intractable problem and commit to provide the whole product. Finding a niche market is important as it defines it customer, and commits the company in developing a whole product that satisfies the consumers need. A whole product, is defined as spectrum of products that meet all the customers need, and gets the job-done. For example, a personal computer is a single product, but without software, mouse, keyboard, and peripherals, the personal computer has little value to the customer. Only when the PC is provided to the customer with the whole product (software, mouse, keyboard…) does it have value to consumers. In context of genomics, companies need to start thinking about the which niche market to target. Genomics has the potential to disrupt many industries: healthcare, hospital, wellness, agriculture, and food. However, by targeting a niche market it provides focused product development that has the ability to win over early majority
  16. 16. consumers. After winning over a market segment this provide opportunity, to disrupt other markets. In context of human genomics, the early market will be segmented, at first, by healthcare industry and wellness industry. There will be niche markets that will sell whole genome sequencing to doctors as customers who will use it to diagnose their patients. Genome sequencing has already been used in clinical settings for personalized cancer diagnosis. However, one of the limitation of genome sequencing through this market is that it does not inherently create a new value network. It still will advocate disease-centric model, and genomic information will likely not be patient-owned. Another niche market will come from the wellness industry where consumers will get their genome sequenced through DTC (Direct to Consumer) whole genome sequencing services. This market provides the best opportunity for patients to own their own genetic information. Companies that are able to provide whole products based on niche market demand, have the potentiality to confer with the P4 medicine model. The late majority market will be captured when whole human genomics become the standard for all health and wellness product and services. It will permeate through all aspects of healthcare and wellness industry. Also it has the potentiality to disrupt the agriculture, food, pharmaceutical industry as how we eat, and the drugs will change dramatically. The laggards are the very end of the technology adoption lifecycle, and are closer to technology luddites. They will only adopt new technology as it become the basis of modern life. Market Creation ***Having doctor approval genome sequencing significantly reduces the number of innovator and early majority that are willing to experiment. Argument for DTC genetic testing The only way whole genome sequencing can be patient centric is to apply the theory of disruptive technology and move up market until it is a predictable, whole-product that doctors will be willing to use. Companies need to target the innovators and early adopter market segment, that are willing to test out new technology and is not in immediate need of whole products. The market will have to start from preventative medicine, where instead of medicine focusing on disease, focus will be on wellness. (Hood) It needs to garner the health and
  17. 17. wellness industry where active consumers are buying healthy products and services to enhance their health. This customer base can be called the “health innovators”. They are willing to try different diet and exercise regiment, and heavily invest it health and wellness. Their job to be done is to maintain or improve their healthy lifestyle. Companies that offer a whole product using genomics and scientific method in giving personalized information to maintain their customers’ health and wellness will win this market segment. Centered around driving the health and wellness outcomes that are critical for long-term economic sustainability. And positive catalysts abound, including advances in science, the evolution and availability of genomic, health, and lifestyle data, and the abundance of technology solutions coming to the market every day to help us monitor, measure, and adjust our habits to improve our health and the outcomes of treatment. (Elton & O'Riordan, 2016) Adoption of this market segment lays the groundwork for sustaining innovation in whole human genome sequencing. Sustaining innovation will come in forms of GWAS and added knowledge as more disease move from intuitive to precision medicine. The best companies will create an innovative business model where consumer genomes added to the wealth of genomic database can be used by researchers to discover new knowledge and clinical insights into intuitive diseases. The more contextualized the human genome becomes, the technology will have the ability to move up market to the early majority. Especially in an information based value proposition, wealth of data generated and active customers are more important than revenue at the inception of the market. Revenue streams will follow after the user base has been established. In the digitization of healthcare, it is useful to look at information technology business models. Facebook, Google Scale of Disruption PC disrupted several industries Genomics should aim to do the same Preventative medicine is traditionally harder to see outcome because its results were indirect ***Only the innovators are buying the technology, they are buying a dream
  18. 18. When developing a market that is patient-centric, companies should not aim for the higher tier, risk adverse market segment. The chronically ill, doctors, hospitals, or what we call the healthcare industry. Applying technology such as the whole human genome sequencing, with little actionable clinical data, and unpredictability; these established market will not be willing to adopt a new technology. For this market they have a better and more conventional alternative (blood test). Going back to the job-to-be done frame of thinking, their job is not to try and test new technology, their job is to diagnose patients accurately and treat them with no error and as cost effectively as possible. Only when whole human genome sequencing has proven to be an accurate source of diagnostic information, will it be adopted in the healthcare industry. This creates an opportunity for whole genome sequencing to be first marketed at the lower end of the market, the health and wellness industry. Conventionally the wellness industry and healthcare industry has been largely independent. The wellness industry, relatively unregulated and lacking real medical backing; but characterized by highly consumer oriented and competitive because of general consumer access to these product and services. The healthcare industry on the other hand is defined by non-consumerism and the gatekeepers of the product and services where professionals that had adequate knowledge to use it. However, in the 4P medicine paradigm, these two industry will converge to deliver a whole-product health system. The lower-end of the market will be defined by preventative measures to keep patient from getting sick, utilizing wellness products personalized through their genomic and health data. The higher-end of the spectrum will be delivery of precision care where, when the consumer gets sick, he/she will receive care that is personalized to their genomic deposition. Application vs. Platform Creating a paradigm where “everyone” participate in scientific research For actual chasm crossing application have a huge advantage, because disruptive innovations are more likely to be championed by end users than by the technology professionals that operate the current infrastructure. Application are what an end user sees. (Moore, 1991) Technology professionals are the doctors, researchers and healthcare professionals that utilize genomics to treat patients. The platform is the wealth of personalized
  19. 19. human genomics data that will be generated, along with analytical tools to contextualize the genome. Using the wealth of genomics data as a platform, companies need to find their niche market in developing an application that benefits the consumer in a personalized, preventative, participatory, and precision manner. There is no doubt in the coming years, there will be many applications suited for consumers, based on their genomic profile. But before this can happen, it is essential that a patient-centric platform is developed, where patients become consumers, rather than the passive role they have been playing in the past. The platform as its basis, several applications will be personally made to specific patient population. Application can range from: drugs, medical devices, medical service, wellness products and services, the list is infinite. Developing a platform to disrupt healthcare is no easy task. We need to look at healthcare, not as: hospitals, doctors, insurers, but ask the question what does the consumer want? What is each patient and consumer’s job-to-be done? In the traditional reactive medicine model, patients will be segmented according to their diseases and age. However, in the new preventative medicine model, it is about wellness and empowering patients to take control of their health. In a broader view, all human beings are different, we all have different genomic profiles, metabolism, health condition, the list goes on. However, all humans have to: eat, exercise to maintain health, and most importantly, their job-to-be done is to have a lifestyle where health is not a deterrent to each individual’s pursuit of life’s purpose. Build a platform using whole genome sequencing that promotes preventative medicine, it will create an application that empowers consumers to play a participatory role in their healthcare. Genomic will serve as a starting point. Adding on to this will be application that are patient specific and disease specific. This market entry aligns with disruptive innovation theory mentioned earlier. It gives non-consumers the power to participate in their own wellness and healthcare. It will not be as sophisticated as what the hospitals and doctors have to offer, it shouldn’t be. However as patient generated data increases and more disease states move from empirical to precision medicine, this platform will move up market in form of sustaining innovation to eventually disrupt the latter half of the healthcare industry. In the future, sustaining innovations will
  20. 20. combine: electronic health records, family history, proteomics, metabolomics, microbiome, and biosensors to create a complete picture of a patient’s health status. Additional Topics  EHR and Genome example translation and diffusion topatient is faster  Regulation and Innovation  Reimbursement  Role of Doctor in the NEW healthcare paradigm o They will move up the supply chain, curing more intuitive disease that are harder, finding new ways to treat patients Conclusion The personalization of medicine is beyond the interest of profits and revenue. Innovation in P4 medicine, commercialization of human genome and quantification of healthcare is vital in making medicine an abundant resource rather than a resource intensive industry that it is today. We borrow clues from the technology industry. Mainframe computers were limited to research labs. Personal computers democratized computing power to the offices and personal users. Now smartphone has democratized computing power to the world. Smartphones has the highest adoption rate globally and you can see consumers with it whether you are in US, Vietnam, Kenya, or Egypt. This continual innovation in information technology allowed democratization of information. Once limited to a select few, now information is abundant, and a child in Tanzania with a smartphone and Internet has access to the world’s information and has the ability to educate oneself. Biotechnology seems to be following a similar trend. Once a multi-billion-dollar project, the human genome, has been making its way down market where today most academic labs have access to sequencing technology. Soon we will be entering a time where human genome sequencing will be making its way to clinical settings and soon to the general consumers. When genetic sequencing becomes so cheap it can be implemented anywhere; any country will have access to sequencing technology. (Oxford Nanopore) With cloud computing; only access to the
  21. 21. internet is required to conduct data intensive genomic data analysis. The result is, advance genomic diagnostics is democratized without the need of expensive healthcare infrastructure. Emerging diagnostic devices and other Omics technology will follow suit to complete the P4 medicine. This is beyond the aspiration of the short-term future, rather a long-term vision. A long-term vision where healthcare is abundant. Healthcare and wellness of one’s health is a basic need of life to have a productive life. Everyone deserves adequate healthcare that will enable them to pursuit their life’s passion and become a productive member of society. However, the current healthcare systemis resource intensive and is not a system that can be emulated by many countries. The United-States, Japan, European countries are blessed with economic resources to build multi-million dollar hospitals with doctors and nurses that are highly trained. However, to export such model to countries with less economic resource is impossible. Furthermore, training healthcare professionals do not happen overnight, it takes decades of education and the infrastructure to do so. The only solution is to apply emerging technology to reduce the resource that healthcare needs to deliver care. Genomics is the first step in creating a healthcare system that can be adopted world-wide. Human beings may different in culture, language, race, appearance, but we all share a common code, the human genome. Genomics provides a platform where healthcare can be digitized. We live in a world where information is abundant and free, when healthcare becomes an information technology, through sustaining innovation, we have the opportunity to make healthcare an abundant resource.
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