Precision medicine vs. personalized medicine

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Healthcare providers have been practicing some form of precision medicine for decades. Any family medicine physician would say their approach is highly personalized. Beyond the physical exam, doctors typically consider family history, lifestyle and environmental changes before prescribing a medication or treatment plan. 

The term personalized medicinefirst came into use in the late 1990s, referring to the goal of developing uniquely tailored medications for each individual. The scientific and health community’s newfound fascination with personalized medicine paralleled the rise of genomics. When the Human Genome Project was completed in 2000, it was thought that genetic markers would be able to  clearly distinguish between patients who responded to medicine and those who did not.


In 2011, the National Research Council published “Toward Precision Medicine,” a report summarizing the need to pair genomics information with insights on lifestyle and environment to better understand, treat and prevent disease. The report cautioned that the word personalized could be misinterpreted to imply that medicine was being developed uniquely for an individual. Within a few years, the term precision medicine gained significant traction in the scientific community.


Outside the research community and scientific literature, precision medicine made its mainstream debut when former President Barack Obama launched the All of Usresearchinitiative in 2016. The National Institutes of Health allocated $130 million towards a public initiative to build a national, large-scale research cohort of one million or more people living in the United States. According to the website, “All of Us will serve as a national research resource to inform thousands of studies, covering a wide variety of health conditions.” This study promised to bring in data on each individual’s lifestyle as well as environmental and biological makeup to better understand how each factor can influence health and disease.

 “The  All of Us Research Program is an opportunity for individuals from all walks of life to be represented in research and pioneer the next era of medicine. The time is now to transform how we conduct research—with participants as partners—to shed new light on how to stay healthy and manage disease in more personalized ways. This is what we can accomplish through  All of Us.”

            —Francis S. Collins, M.D., Ph.D., director, National Institutes of Health

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While All of Us is still one of the largest population studies underway today, globally scientists and health professionals are gathering tremendous amounts of data to characterize specific subsets of patients.

For example, health systems are collecting samples from localized patient populations to compare the data with other subsets of the larger population. The idea is to stratify a population into increasingly narrow sub-populations that share a common profile, depending on genetic, environmental and lifestyle factors. Ultimately, those profiles would correlate with precise treatments.


In the end, initiatives such as All of Us are making health more personalized and precise. Health will be personalized in that physicians will continue to consider all information available about their patients. It will be precise because providers will increasingly look to information from molecular data to determine specific genetic mutations and identify appropriate interventions at a molecular level. A more accurate description of this approach may be precision health.

In the words of Stephanie Devaney, deputy director of the All of Us research program: “What really matters is that people understand why we need research and what efforts like All of Us aim to do. The terms we use matter less than the outcomes that result from our national focus on this area of science.”

Applications of Precision medicine


Precision medicine has been adopted across a range of fields (see table below), most notably in cancer research and inherited diseases, for both diagnosis and treatment using next-generation sequencing (NGS) technology. Precision medicine also holds promise to improve the overall health of populations and bring down the total cost of care through the application of pharmacogenomics, which uses patient data to inform effective, safe medication plans for patients. It may be decades before the scientific community is able to collect and leverage the explosion of information available to us.  We are creating a fertile ground for discovery, and we are in the early stages of translating that research into improved outcomes for patients.

Precision medicine ecosystem

A convergence of technological advancements and rising demand from healthcare providers is accelerating investment in precision medicine.

The healthcare community approaches precision medicine with a shared goal:

  1. Develop more effective medicines that will improve patient outcomes
  2. Lower costs associated with trial-and-error or ineffective treatments

         For these goals to become a reality, however, key stakeholders must work together to overcome fundamental challenges.

  • Government and payers: Much of precision medicine is being driven by governments and the health insurance industry, including the Centers for Medicaid and Medicare and private payers. These groups are hyper-focused on using precision medicine to drive down the costs of healthcare. To do so, they first need to provide the policy and regulatory structure to facilitate the move from translational research into the clinic. For example, one key area for ongoing research is in accumulating data to justify health outcomes and establish a proven path to reimbursement.
  • Research institutions: Academic researchers are working hand-in-hand with providers in hospital settings to bring precision medicine out of the lab and into the clinic. Researchers are focused on foundational discovery, including the study of disease mechanisms, and early stage development of diagnosis and treatment strategies.  They also educate scientists and medical professionals, and study the ethical, legal and business of healthcare.
  • Clinical providers: Providers in health systems hope to implement precision medicine at scale to help them deliver value-based care and improve population health. Before recommending genetic testing and targeted treatments, physicians must understand the clinical and economic value.  This ensures costs to patients are reasonable and will provide actionable results. In addition, providers face the significant hurdle of interpreting and implementing data at the point-of-care. For clinicians to make decisions guided by patients’ genetic information, that data must be available within in their existing workflow, and that means within electronic health records.
  • Pharmaceutical and biotech companies: As pharmaceutical companies face increasing pressure to demonstrate the return on their R&D, they’re shifting to precision-based research. This includes finding the right patients for clinical trial enrollment and co-developing diagnostics and therapeutics. With drug pricing under fire, the industry is also adapting to a trend in value-based payment models that tie reimbursement to outcomes in an effort to reduce costs. Unlike flat, one-time payments, pay-for-performance deals reward pharmaceutical and biotech companies with payments on a yearly basis as long as their therapies continue to show effectiveness.
  • Diagnostic labs and services: For clinicians, accuracy, consistency and data interoperability, are primary concerns. Standardized technology is needed to connect results within and across a network of labs and help the ecosystem keep up with the rapidly expanding field. Diagnostic labs and services provide specialization and reliability of results. Privacy is also a concern for laboratories managing patient data, including genetic information that can be used to potentially identify patients.

Widespread adoption

Groundbreaking advances in precision medicine promise to change how we approach diseases such as cancer, but the availability of new diagnostics and treatments doesn’t guarantee access to all patients.

To make precision medicine more accessible, healthcare leaders are collaborating with the FDA to create a regulatory framework that allows clinically valid tests to be adopted rapidly in clinical settings.

But the biggest challenge standing in the way of widespread adoption is the need to establish clinical utility and forge proven pathways to reimbursement.

Precision medicine treatments can come with a higher price tag than traditional therapies and, when one calculates the cost of each individual test, the companion diagnostics approved to match patients with precision therapies are often more expensive than conventional screening. Looking through the lens of value-based care, however, precision medicine has the potential to lower costs overall by reducing the need for additional testing and enabling physicians to prescribe more effective therapies as a first course of treatment. By replacing a trial-and-error based approach with a targeted approach that has been proven to improve patient outcomes, providers are making the economic case for precision medicine.

Increased access to precision medicine will also require more widespread participation in clinical trials to accelerate the availability of new targeted therapies. Large-scale studies are not feasible with traditional, one-sample, one-biomarker testing.

Further, as the industry moves toward developing drugs in smaller, even individualized batches –  drug manufacturing is becoming more complex. To make the process more affordable and accessible to more people, biotech and pharmaceutical companies are starting to collaborate and share resources, expanding the total infrastructure working to speed up drug development.

Lastly, clinicians will need specialized training to increase their comfort level working with new precision medicine tests. Most cancer patients in the United States are treated in community hospitals that typically don’t have the advanced genomic sequencing capabilities of larger medical research centers. Companies such as Origin26 are working to make precision medicine more accessible by developing new technologies that are easier to use and, ideally, more cost-effective, outside of major medical centers.

Precision medicine beyond genomics

As precision medicine advances, researchers are realizing that genetic sequencing alone does not complete an individual’s molecular profile. In the past, a researcher would look at one component in the body at a time to determine how it is contributing to a disease. Today, new technologies and analytical capabilities such as mass spectrometry are enabling researchers to analyze additional information such as protein levels and RNA expression to inform earlier, more specific disease diagnosis. This emerging field of “multi-omics” research includes:

  • Proteomics: Used to understand the functions of individual proteins and how changes in protein abundance affect complex biological systems.
  • Metabolomics: Looks at the complete set of small molecule metabolites in an organism.
  • Transcriptomics: Examines the complete set of RNA transcripts produced by the genome using high-throughput methods such as microarray analysis.
  • Lipidomics: Studies the pathways and networks of cellular lipids in biological systems.

The rise of multi-omics, combined with a wealth of data coming out of new precision medicine tests, creates a growing data analysis challenge across the industry. Clinicians need help interpreting the mountain of data that’s now available and making it actionable at the point of care. While an abundance of data creates new dimensions for researchers to consider, it also makes possible the discovery of new biomarkers that can propel precision medicine from the lab to the clinic.

The scientific introduction

Origin26 LaScience Introduction Trillions cells 200px

37+ trillion cells

There are approximately over 37 trillion cells in the human body. The body relies on cell communication to replicate into healthy cells working in harmony to perform all of the basic functions necessary for human survival.

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The building blocks of life

Cells are the building blocks of all living things and provide structure to the body, nutrients from food, convert nutrients into energy, and perform specialized functions. The hereditary material is found in the cells. Cells can also make copies of themselves.

Origin26 LaScience Introduction atoms 200px

100 trillion atoms in 1 cell

When cells are viewed granularly, we find that each of the trillions of cells in the human body is made up of 100 trillion atoms. This means that there are over 37 trillion cells multiplied by 100 trillion atoms in the human body.

Origin26 LaScience Introduction Hair atoms 200px

Hair contains atoms

Hair is known to carry a unique atomic signature for every human being. For this reason, it can be used as a method of identifying a person's cellular health by understanding how atoms work.


  • DNA is covered with proteins called histones. DNA wraps around the histones the way sewing thread wraps around a spool. By wrapping DNA more or less tightly, histones control which genes are active (being read to build proteins) and which genes are not.

  • When a cell gets ready to divide, additional histones attach to DNA, coiling it even tighter.

  • To learn more about how histones can help regulate access to DNA, visit The Epigenome at a Glance.