To understand precision medicine, let’s consider the following example. Imagine for a moment that we live in an imaginary country where an unexpected external threat forces the King to mobilize the entire civilian population of fighting age. In the rush to outfit the soldiers, there is only time to accept an average size and develop a single uniform for everyone. Obviously, except for a small, fortunate group for whom the uniform would fit perfectly, most people would find it “acceptable,” while for many others it would be either too large or too small—and for some, it could even pose a real danger by restricting mobility.
That is what a medication is: something that works very, very well for a large group and is acceptable for many others. But for a significant percentage, it is only partially effective; for some, it causes serious problems when combined with other drugs or foods; and it can even be dangerous for certain individuals (iatrogenesis) or, at the very least, completely ineffective. What if we could group potential patients into cohorts based on predefined criteria? That would be ideal, as it would allow us to decide how to treat them differently—and far more “specifically.” In essence, this is the hypothesis behind so-called precision medicine (PM), or genomic medicine.
Defining precision medicine
We should not confuse it with personalized medicine, which some interpret as the ability to create “a different pill for each person.” On the other hand, the U.S. National Institutes of Health (NIH) defines PM as “an innovative approach that takes into account individual differences in genes, environment, and lifestyle.” In my opinion—and this is where the frequent confusion arises—this definition is closer to what is known as “person-centered” health care, in the sense that such a holistic approach seeks to overcome the inherited biologistic reductionism.
In this latter case, we are therefore talking about a bio-psycho-social approach, in which the determinants of overall health as a whole (see Marc Lalonde) shape individual variability and culminate in the new value-based care model—where the outcomes that “truly matter” are those defined by the final recipient. These are none other than health and well-being, quality of life, and personal autonomy, and ultimately “perceived health,” insofar as all of these contribute to one’s life purpose (ikigai).
A related concept at the collective level is One Health. This refers to “the collaborative efforts of multiple disciplines (medical professionals, veterinarians, researchers, etc.) working locally, nationally, and globally to achieve optimal health for people, animals, and our environment.”
DNA, artificial intelligence, and the future of humanity
Taken together, these disciplines—rooted in fields such as biotechnology and bioinformatics and intersecting with epidemiology and public health—have been greatly strengthened in recent years by machine learning and other forms of artificial intelligence. Building on genomic sequencing, they are expanding their capabilities toward unprecedented scenarios. The availability of massive amounts of data generated daily—from academic institutions and research environments, as well as from healthcare settings and population-level sources, including data reported by wearable devices (wearables) and the Internet of Things—marks the beginning of a true epiphany for the future of humanity, for better or worse.
Combined with other techniques, such as real-time imaging of a drug’s effects or the 3D printing of “personalized poly-pills” in a single tablet, these advances will help minimize shortcomings such as today’s lack of treatment adherence. Taken further, these technologies are beginning to demonstrate their ability to predict outcomes of late-stage clinical trials and to be applied rapidly to individual cases on a global scale. Collectively, the expected benefits of precision medicine are described by The Jackson Laboratory as follows:
- Shifting the focus of medicine from reaction to prevention.
- Predicting disease susceptibility.
- Improving disease detection.
- Preventing disease progression.
- Personalizing disease prevention strategies.
- Prescribing more effective medications.
- Avoiding the prescription of drugs with predictable side effects.
- Reducing the time, cost, and failure rate of pharmaceutical clinical trials.
- Eliminating inefficiencies and errors in trials that inflate healthcare costs and undermine patient care.
Democratizing access to digital health and molecular studies
Regarding the relationship between genomic medicine and digital health, it is worth highlighting the synergies that can arise from their mutual reinforcement, through the convergence of life sciences and information and communication technologies. The adoption of business models based on marketplaces now makes it possible to send home-collected samples to centralized laboratories and to combine results early on with intelligent predictions—opening up previously unimagined frameworks for action.
We are moving toward the democratization of access to high-level technologies from the comfort of one’s home. This is the case with companies such as Italy-based Dante Labs, which offers whole-genome sequencing, or the UK-based Atlas Biomed, focused on the microbiome. It is also the case for advanced systems such as those developed by Made of Genes, which integrate genetic information from a DNA test with a traditional blood test to conduct personalized health studies—an integrated approach to improving people’s health, as mentioned at the outset.
DNA testing and large-scale genetic results
In 2015, President Barack Obama launched an initiative aimed at extending the achievements of genomics toward better prevention and therapy by creating a population cohort expected to reach one million participants. Its mission was to “enable a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward the development of individualized treatments.”
This initiative soon became known as All of Us, whose mission is to help build “one of the most diverse health databases in history.” Researchers will be able to use the data collected to understand how our biology, lifestyle, healthy habits, and environment affect health, ultimately helping to discover new ways to prevent and treat disease through the sequencing of one million genomes. Forbes magazine also highlighted, in relation to this project, how digital technology can increase diversity, equity, and inclusion in medical research.
Toward a convergence of precision medicine and personalized health
Overall, we are moving toward a convergence of precision medicine, personalized health, value-based healthcare, and the broader framework of technological and knowledge convergence represented by the One Health movement. It is at this point of convergence that what we have termed value-driven digital health emerges. This will be the foundational pillar on which we will one day achieve truly ubiquitous health—the moment when we finally shed any technological labels and return to simply talking about health.
