In January of 2015, following years of rapid and exciting development in the field of genomics, the US government launched the Precision Medicine Initiative, a first-of-its-kind, $215M plan to explore new avenues to approach health and disease. As stated by President Barack Obama, this ambitious research plan was designed to “bring us closer to curing diseases like cancer and diabetes, and to give all of us access to the personalized information we need to keep ourselves and our families healthier”. Succinctly, precision medicine is a clinical approach that considers the patient’s genetic makeup, environment, and lifestyle choices to offer tailored therapeutic interventions. In theory, this approach would help identify which patients are most likely to benefit from a given treatment while saving time and minimizing the economic burden and possible side effects.
Four years since the launch of Precision Medicine Initiative in the US, akin plans have proliferated worldwide, including the China Precision Medicine Initiative, the Swiss Personalized Health Network, and the World’s Economic Forum’s Precision Medicine Program. In the last quarter of 2019, numerous efforts on this front have materialized in the form of substantial research grants and global, multidisciplinary collaborations. The US National Institutes of Health (NIH) recently awarded a $3.7M grant to Washington University School of Medicine to support the Clinical Interpretations of Variants in Cancer (CIViC) database- an open resource designed to identify how specific mutations in cancer patients predict their response to targeted therapy. The NIH also awarded this month a $22M grant, in collaboration with a private philanthropic organization, to support precision medicine research for idiopathic pulmonary fibrosis. Regarding collaborations, The John Hopkins School of Medicine has recently announced a large-scale partnership with the Bloomberg Philanthropies and the New York Stem Cell Foundation Research Institute to boost precision medicine and stem cell research. Also, in the US, The Shriners Hospitals for Children is partnering with the company Genome Medical to provide better genetic sequencing and precision medicine services. In Asia, MEDx Translational Medicine and Lucence are pursuing a collaboration to support drug development and personalized strategies to fight cancer.
Despite global economic efforts, some doubts about the translational value of precision medicine still loom large. On the one hand, the use of genomic technologies is a reality with multiple applications in the current healthcare landscape. Genetic screening can be used to determine whether an unborn child is at risk for developing a genetic disorder, to predict how the patient’s genetic background will affect their response to a drug (a field of study known as pharmacogenomics), or to precisely diagnose certain forms of cancer. These strategies allow for early interventions aimed to avoid or curve the consequences of a medical condition or therapy. On the other hand, there are inherent limitations of genetic testing for clinical purposes. For instance, prevalent and devastating diseases such as diabetes or atherosclerosis result from complex interactions between multiple genetic and environmental factors. Thus, even if the available genetic tests for a given condition were 100% sensitive and specific, their value for predicting such multifactorial disorders may not always be high. This is even more problematic when the targeted genetic condition is not highly penetrable (i.e., the number of individuals that exhibit a specific genotype do not show the associated clinical trait).
Leaving aside these and other caveats, precision medicine can only be a reality if a supportive ecosystem and culture sustain it. In this ecosystem, patients, health care providers, payers, and researchers need to establish a symbiotic relationship to guarantee that there are resources to collect and analyze valuable data, that patients receive the most suitable treatment, and that this treatment is affordable. A supportive culture should reward study participants and patients for sharing private data (including genetic information) while protecting their privacy by promoting strict data security policies. It should also encourage inclusivity by offering equal research opportunities and access to treatment to individuals with disabilities and those who belong to racial and ethnic minorities.
The development of accurate biological tools is critical to improving our understanding of individual differences in both the prevention of medical conditions and in response to available treatments. Current health policies, funding opportunities, and scientific efforts around the world highlight the notion that the “one-size-fits-all” approach to health and disease is slowly being replaced by a more holistic, targeted understanding of individual needs. With proper economic support and scientific development, precision medicine holds a bright and exciting future. However, these efforts will only be fruitful if the right ecosystem and culture are in place.