The Future of Precision Medicine and How We Can Address Today's Challenges
Part I: Where Are We and Where Can We Go?
Put simply, precision medicine is an approach to medicine that aims to tailor medical treatment to the individual characteristics of the patient being treated. Precision medicine uses information about the person’s genetics, environment, and lifestyle to diagnose, treat, and prevent disease.
This is not a new concept. Sir William Osler spoke of the importance of knowing what sort of patient has disease rather than simply knowing what disease a patient has in the late 1800s (Naithani et al., 2021). Going even further back to ~1550 BC, the first evidence about medicine adapted to individual’s health appeared in the Odyssey written by Homer: “Telemachus, the son of Odysseus, visits Menelaus and Helen in search of news about his father, who has still not returned home after the Trojan War. Reminiscence of the absent Odysseus leads to tears and at this moment Helen puts a drug (φα∙ρμακoν) into the crater of wine, which eases grief or anger and makes one forget one's woes. This drug came from Egypt: Homer says” (Visvikis-Siest et al., 2020).
What has changed over time is the information physicians and other practitioners have available to them and their ability to act on that information.
The understanding of how genetics and genomics contribute to disease has led to precision medicine approaches to rare disease and cancer. Monogenic diseases—where a single mutation or alteration gives rise to disease—like cystic fibrosis, Duchenne muscular dystrophy, Huntington’s disease, and sickle cell disease can be accurately diagnosed and existing or emerging therapies allow for their treatment. Tumours can be genetically sequenced to identify specific mutations, rearrangements, or alterations in the DNA that drive the growth of the cancer. Certain genetic changes serve as biomarkers that can predict how well a cancer will respond to particular treatments (e.g., presence of mutations in BRCA1 or BRCA2 in breast cancers to indicate the likely benefit of PARP inhibitors).
The growth of precision medicine is dictated by the interaction of three factors. Information being available, accessibility of that information, and an ability to act.
Information available: Research will generate quality data about how genetics/genomics, environmental factors, and lifestyle contribute to disease.
Accessibility of information: Knowledge derived from research about how genetics/genomics, environment, and lifestyle contribute to disease needs to be made available to practicing physicians and practitioners in a manner that is useful to them so that they can incorporate it into their clinical decision making.
Ability to act: Are there tools available that allow practitioners to act on the information they have available to them? Does the information lead to better screening, more accurate diagnosis, better treatments, precise prevention plans?
Evidence is developing about the role of genetics/genomics in complex chronic diseases like psychiatric illnesses, cardiovascular disease, and diabetes. The role of environmental and lifestyle factors also continues to evolve. Healthcare system administrators are working to make increasing amounts of complex information available to practitioners in a manner that eases decision making and doesn’t make it more burdensome. And industry is developing new therapies that enable practitioners to act on the available information to treat and prevent disease. How, when, and where all these factors coalesce will determine where precision medicine goes next.
Part II: A Solution to Healthcare’s Pressing Challenges
Our healthcare system is under pressure. Workforce shortages, increased costs of delivering healthcare, growing prevalence of chronic disease, a pandemic, outdated infrastructures, inadequate resource allocation, and the demands of a growing and aging population have all strained our healthcare capacities.
Precision medicine, by enabling better screening, diagnosis, prevention, and treatment of disease has the potential to address current healthcare challenges by improving patient outcomes and increasing healthcare system efficiency. Improved screening means better resource allocation; earlier diagnosis means earlier treatment and less healthcare utilization; more precise treatments lead to better outcomes; and prevention means a greater number of people may avoid or delay needing healthcare altogether.
A critical question remains: how do we harness the potential of precision medicine and deploy it in a way that helps rather than exacerbates current healthcare challenges? The answer is allowing precision medicine and genomics-based care to dissipate beyond its current boundaries in specialized and tertiary care where there are numerous barriers to access. We need to allow genomics-based medicine into areas such as primary care.
Primary care is an attractive candidate because it is associated with the equitable distribution of health and is optimally situated to coordinate patient care. But primary care physicians need support. There is a tremendous risk of precision and genomics-based medicine falling flat if it is another add on for an already overburdened healthcare provider.
Incorporating team-based care models, where genetic counselors are integral members, provides the support family physicians need to deliver genomic and precision medicine effectively. This collaborative approach can significantly contribute to realizing the full potential of precision medicine, transforming patient care, and addressing the myriad challenges our healthcare system faces.