Precision Medicine: Made-to-measure personal version

Precision Medicine: Made-to-measure personal version


When a patient approaches a physician seeking treatment, the physician straightaway selects a treatment option or drugs that over time have proven rewarding for an average patient. Per contra, patients are not benefitted as much from the cut-and-try approach of care. It is a call for the healthcare industry to count on more precise and personal care to improve performance and well-being of individuals. Precision medicine is the quick-fix with a multi-dimensional approach to care based on their genomes, behavioral, and environmental variants. Precision medicine came afar in the past decade especially in cancer treatments and drug therapy. The success of Human Genome Project, availability of data (EHR/EMR), backing from the latest technology, and demand from patients widened the research and consequently practice of precision medicine care. The federal government’s announcement of Precision Medicine Initiative plugged in the attention of healthcare personnel and industry to visualize the gravity of widening research, education, and application of precision medicine. The skyrocketing market of precision medicine promises healthcare entrepreneurs and pharma companies to invest in precision medicine and allied healthcare industry. Hopefully, in the future, the word medicine would mean nothing but precision medicine itself.


Human Genome Project; Sequencing; Mapping; Precise Registry; Cancer Knowledge Network; National Research Cohort;

At a glance

  1. Introduction
  2. Why do we need precision medicine?
  3. History of precision medicine
  4. Is it personalized medicine?
  5. Patient care and precision medicine
  6. Is reimbursement possible with precision medicine?
  7. Scope of precision medicine
  8. Precision medicine initiative
  9. Objectives of PMI
  10. Success of precision medicine
  11. Precision medicine market
  12. Summary


The Science Magazine picked up a case as the Breakthrough of the Year, 2013- A new cancer immunotherapy cures 6-year-old Emily Whitehead of leukemia in just 28 days! One of the most talked about example of precision medicine.

Precision medicine is a customized treatment including preventive and curative measures enhancing effectiveness of outcome; it takes into consideration the variation in the genetic makeup, lifestyle, and environment of each individual. Precision medicine may facilitate the clinicians to reach the bottom-line conditions of the patient’s health and disease; thereby allowing the treatments to be targeted to address the specific issues.

In case of Emily Whitehead, the healthcare team at the Children’s Hospital of Philadelphia, re-engineered the T-cells collected from the Emily’s blood to recognize surface protein specific to leukemic cells. These cells were inoculated back to the blood to invade the leukemic cells.

Why do we need precision medicine?

The outcome of treatments administered for different individuals diagnosed with the same condition might not be the same. Some individuals may get cured, whereas the others may not.

Figure 1: Percentage of effectiveness of medications administered to individuals diagnosed with same disease

History of precision medicine

Application of precision medicine can be dated back to the discovery of blood typing, an essential step before blood transfusion. But the real orientation for precision medicine began in 2003 with the scientists being able to sequence and map human reference genome.

The concept of precision medicine revolves around the basic elements and differences in the genomes changing the practice of patient care. Though precision medicine witnessed considerable achievements, the results are not yet evident in day-to-day practice.

                                           Figure 2: Evolution and future of precision medicine

                                                                                   Source: www.elsevier.com

The research in precision medicine is steady with the development of large-scale databases in human resource genomes; cellular assays, proteomics, metabolomics, and mobile health technology; and tools for analyzing data. Further research and tests are encouraged to collect evidence for implementation in clinical practice.


The usage of the term ‘personalized medicine’ was popular among 1990s which was replaced by a more relevant term ‘precision medicine’ after the publication of the report by National Research Council in 2011.

The term precision medicine is used vice versa personalized medicine; a minor contrast can be noticed in the actual meaning. Accordingly, the context of usage and practice of personalized medicine needs clarification.

Patient Care and Precision Medicine

The success of Human Genome Project, April 2003, opened the way for precision medicine and further improved the diagnosis and treatment outcome.

Genes which are the decisive components in health and well-being of an individual are influenced by lifestyle, behavoiural and environmental factors. Therfore, the genetic variation in each individual is assessed by precise registries, gathering information from ICD-10, list of problems, medications,and supplemental criteria. The healthcare IT  will compute and store the data, create a hybrid model with clinical information and make it assessible through EHR for the clinician’s use. For example, an individual at risk of colon cancer due to a genetic mutation can be screened frequently on colonoscopy on preventive basis, also used for prevention of chronic diseases like cancer, hypertension, depression, alzihmers, etc. Affordable models and genome-based treatments identify patients suitable for specific treatment thereby  reducing the wasteful spending on trial and error treatments.  This targeted medication will minimize the side effects improving the quality of care.

Is reimbursement possible with precision medicine?

  • According to the Affordable Care Act, a positive family history for a particular type of cancer directs the insurance company to claim for the testing
  • Testing and treatment of diseases which fall under FDA approved link between genetic mutations and prescription of a particular drug or treatment can be claimed under insurance.
  • Insurance company seeks precision medicine practice for the clients registered in cancer coverage to ensure maximum benefits to the amount claimed.

Scope Of Precision Medicine

1. Medical education

  • Association of American Medical Colleges (AAMC) is committed to progress the medical education and research in the field of precision medicine by emphasizing on genomic education and its clinical application. Medical students are trained in the hands-on course or as a separate specialty regarding structure and function of genomes, tools for analysis, interpretation, and application of treatment strategies.
  • Education institutions play a pivotal role in providing support to the practicing physicians to help sharpen their knowledge and skills in the precision medicine.

2. Hospital research

  • The integration of genomics into medical diagnosis and treatment is driving hospitals to invest in starting up genomic medical units. Mount Sinai, one such hospital has invested $100 million targeted towards cancer and diseases having a questionable diagnosis.
  • It is anticipated that precision medicine techniques will soon blend in other branches of medicine such as neurology, cardiology, endocrinology, infectious disease, allergy, etc.

3. Pharmaceutical companies

  • Pharma companies applying biomarkers to target the approach of drugs on specific genes won the approvals in clinical trials quickly. Tafinlar, a drug developed by GlaxoSmithKline to treat melanoma managed to get FDA’s approval in 2013 because of their targeted BRAF V600E gene action.
  • According to the reports of The Pharmaceutical Research and Manufacturers of America, 900 medicines were developed against cancer raising the market to $36 billion in U.S., 2012. Applying biomarkers to the developing cancer drugs could be profitable to the pharma company’s revenue.

4. Technology firm

  • The reduced point errors in genome sequences from 1 in 100000 to 1 in 1million projects the support of sophisticated tools implemented inaccurate measurement of biological markers such as DNA, RNA, and proteins.
  • Developing wearable devices or smartphones that can track physiologic information such as weight, temperature, BP, heart rate, sleep patterns, etc. can now be integrated with genomic data of the patient to create a precision registry.
  • Novel technologies and devices are implemented by The Centre for Assessment Technology and Continuous Health in measuring the cellular and behavioral phenotypes and also microbiome, genotypes of immune cells, and sensor readings from respiratory cilia.
  • The U.S. Food and Drug Administration adopted the cloud computing model to store and exchange the massive database of precision registry internationally.

5. Data interpretation models

  • Use of two generic drugs targeted to control hypertension and cholesterol levels in diabetic and cardiac patients reduced the chance of occurring heart attacks. The data interpreted by analyzing healthcare questions with the help of a mathematical model has brought down the cost of medications used for complex diseases.

Five logics that indicate U.S. is at juncture of advancement in precision medicine

  • Understanding genomics: Scientists spent $1 billion and eight years on sequencing a genome, but today it can be accomplished in one day for less than $1000.
  • Public participation: Participants are given a picture of the survey, interpretations drawn from the information presented, and are allowed to withdraw if not interested.
  • Easy access to data: Electronic Health Records provide access to medical data of millions of patients who can potentially become a part of the research.
  • Technology for collecting data: Wearable smart devices have helped National Institute of Health to collect up-to-date data about the health of participants.
  • Tools for analyzing: Considering the fact that each human genome has three billion data points, imagine the number of data points to be analyzed for one million participants in Precision Medicine Initiative.

Precision Medicine Initiative

President Obama launched a national project, Precision Medicine Initiative (PMI) in The State of Union Address, on Jan30th, 2015 with $125 million from 2016 budget to switch medical practice to a more precise model.

Figure 3: Segregation of the precision medicine initiative fund of $215 million, allocated to research, progression, and innovation

       Investment         (in millions)                      Institute               Achievements
$130National Institute of HealthNational cohort research with one million participants
$70National Cancer InstituteIdentify genomic causes of cancer and develop effective treatment options for cancer care
$10Food and Drug Administration AgencyCreate database to support the innovation in precision medicine
$5Office of National Coordinator for Health Information TechnologyTo maintain privacy and security when the data is shared in systems

Objectives of PMI

Precision medicine has already captured the attention of both care providers and consumers. For example, the drug Ivacaftor prescribed to treat a genetic variant of cystic fibrosis targets the underlying cause, not the symptomatic relief. The same goes on with opting for routine molecular testing and application of results in choosing the treatment plan.

Nevertheless, not many of us will be aware of such great achievements. The main objective of PMI is to give these success stories an outlook nationwide, and inspire consumers to participate in research and benefit from the outcome.

a. Intervention for cancer

  • Developing techniques to recognize early stages of cancer, more appropriately even before the occurrence of cancer, genetic mutations may be identified in the blood.
  • NCI is assigned the task of researching the genomic drivers of cancer, separate the targets, trial and confirmation of association between genetic mutations and the targets to focus on designing accurate treatment procedures, as a whole ‘Cancer Knowledge Network.’ Minimize the occurrence of residual cancer after surgery, so eliminating the need for chemotherapy.
  • Monitor the treatment progress by screening for predictive immunotherapy markers and switch over therapy.

b. Voluntary national research cohort

  • The director of NIH approved the framework proposed by the working group, an Advisory Committee to Director regarding the design of infrastructure for building a national cohort of one million individuals.
  • The cohort should be a representative of diverse American population including all age groups and health statuses along with diversity in social, ethnicity, ancestors, geography, socioeconomic status.
  • The intention of this research is to obtain a nationwide database that can be applied to improve the health of individuals throughout life at the same time develop efficient treatment options through precision medicine not just focusing on cancer, but expanding it to other chronic and common diseases.

c. Privacy protection

  • The White House will collaborate with HHS and other federal agencies with patient groups, bioethicists, technology experts, and privacy and civil liberty advocates to make sure that privacy and security of data collected for precision medicine are maintained.
  • The federal government is working to sustain the trust of public by maintaining transparency, access, and sharing of data meanwhile meeting the quality and integrity of data.

d. Regulations in research

  • FDA is looking forward to developing accurate and reliable tests in the Next Generation Sequencing Technologies for sequencing large segments of DNA or the entire human genome.

e. Partnership of public and private sectors

  • One of the objectives is to mold a robust partnership between the private sectors to build the infrastructure needed to gather the database of genomics nationwide and public sectors that are already in cohort studies to accumulate the manpower needed to start a cohort of one million volunteers. A teamwork of academic and research experts, medical ethics, and product innovators will entrust a successful PMI.

Success of precision medicine

The pharma companies are successful in making precision medicine drugs. There are drugs that revolutionized the treatment outcome making the lives better for targeted patients.

BioMarin Treats hereditary diseases by replacing mutated proteins
VertexKalydecoThe only drug approved to treat cystic fibrosis caused due to genetic mutations
Roche’sHerceptinTreat tumors with elevated levels of HER2, a protein promoting growth of tumor
Pfizer’sXalkoriTreat lung cancer due to mutations in ALK gene
NovartisGleevacTreat leukemia caused by fusion of two genes during switch over of 9 and 22 chromosomes

A drug on the verge of a failure of approval from FDA can be processed by partnering with a diagnostic tool that exhibits susceptibility of those individuals to the side effects. A pharma to be successful in precision medicine to make investments profitable should:

  • Quantify precision medicine at early stages of research
  • Minimize risk drug and the diagnostic test must be ready for trials at the same time
  • Market the drug globally

The idealistic approach of precision medicine is to produce precision drugs at cheaper rates than available now and accessible to all groups, especially to the vulnerable population.

Precision Medicine Market

An estimate of precision medicine market published based on the BIS research is expected to reach $88 billion by2022 and CAGR of 12.60% during 2015-2022. The global precision market is further subcategorized into biomarkers, companion diagnostics, pharmacogenomics, molecular diagnostics, etc. Furthermore, the Pharma and Biotech market especially cancer-oriented is on a roar to reach $46.38 billion by 2022.

                                                          Figure 4: Cost of sequencing a genome

Source: www.scienceblogs.com

Vertex earns $300,000 per year on Kalydeco, and the same holds good with all pharma companies pricing the precision medicine drugs very high attributed to the small volume of targeted population.

There are numerous diseases in which an underlying cause is not established, attracting the pharma and biotech companies to investigate and develop precision medicine drugs.


Precision medicine has transformed the reactive model of healthcare to a proactive and appropriately predictive model. The success stories and vision of precision medicine on patient care are driving physicians and pharma companies to take up research and develop new and effective treatment and therapeutics. The Precision Medicine Initiative provides not only financial assistance but also gathers public support elevating it to a national level project. The estimate for precision medicine market is estimated to boost up in confluence with an increase in the diagnosis of cases related to genetic mutations. Budding of healthy partnerships with start-ups in pharma companies is remarkable. After the takeover of precision medicine, the most sophisticated treatments available now will also convey the impression of crude and unrealistic approach shortly.


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