by What is Precision Medicine?
Precision medicine, also called personalized medicine, is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person. This approach will allow doctors and researchers to predict more accurately which treatment and prevention strategies for a particular disease will work best for each person. It is in contrast to a “one-size-fits-all” approach, in which disease treatment and prevention strategies are developed for the average person, with less consideration given to the biological differences between individuals.
Although the term “precision medicine” is relatively new, the concept has been evolving over many years as new technologies and new ways of classifying illnesses based on their underlying biology have emerged. For example, it is now understood that many diseases that were previously thought to be single conditions, like cancer and heart disease, are actually multiple complex diseases with diverse underlying genetic origins that can vary from person to person.
A key goal of personalized medicine is to be able to classify individuals into subpopulations that differ in their susceptibility to a particular disease, in the biology and genetic pathogenesis of their disease, or in their response to treatment. This will allow clinicians to better target treatment recommendations and more effectively prevent and manage disease for individual patients. For example, two patients diagnosed with lung cancer may receive different treatments based on whether their cancers were caused by a genetic predisposition to the disease or by smoking. Tailoring treatments to the individual will help determine the most effective therapy, limiting unintended side effects and health care costs overall.
How is Precision Medicine Becoming a Reality?
Implementing a widespread personalized medicine approach will require integrating vast amounts of genetic and other data from individual patients with advances in computing power and analytic tools to securely store, combine and analyze the data. The Precision Medicine Initiative (PMI), a federal investment, has accelerated personalized medicine progress by supporting research on how to build and use these large datasets and launching major research studies to understand how genetic, lifestyle and environmental factors affect health.
One PMI-supported study, called All of Us, aims to gather genetic and health information from one million or more volunteers living in the U.S. to accelerate research and medical breakthroughs. Researchers using this data will seek new ways to prevent and treat disease based on individual differences rather than “one-size-fits-all” approaches. The data resources will also include lifestyle data from things like Fitbits and Apple Watches to better correlate wellness and disease.
In addition, the growth of molecular profiling technologies like whole genome sequencing and gene expression analysis have rapidly advanced our knowledge of the molecular drivers of cancer and our ability to personalize treatment. The growing use of next-generation sequencing in clinical care is enabling more cancers to be sequenced and treated based on their genetic profiles and vulnerabilities. Success has come from targeted therapies for specific mutations that are becoming standard of care for some forms of lung cancer, melanoma, leukemia, and other cancers.
Similarly, the emergence of pharmacogenomics – the study of how an individual’s genetic inheritance affects the body’s response to drugs – is helping doctors better predict which medications will be safe and effective for a given patient based on their genes. This field has led to genetic screening before prescribing certain medications that carry high risks of serious side effects for people with certain gene variants. This “precision prescribing” aims to avoid adverse drug reactions and maximize treatment effectiveness.
Barriers to Widespread Implementation
While personalized medicine holds great promise, several challenges still exist to fully realizing its potential. One barrier is that the underlying genetic causes of most diseases are not yet fully understood. Identifying all the relevant genetic and biological factors will require greatly expanding our knowledge. There are also technical challenges in collecting and analyzing large datasets while protecting patient privacy and data security.
Institutional barriers exist as well, as many healthcare systems and medical practices have yet to fully integrate personalized medicine approaches. Widespread cultural change is needed for clinicians to routinely consider genetic testing and disease profiling to provide personalized care. Reimbursement policies also need to adapt to cover new types of tests, counseling and monitoring required by precision approaches.
Finally, the high costs of DNA sequencing, data storage and analytics remain prohibitive for using these approaches for all diseases and all patients in most healthcare settings. Continued innovation and economies of scale are needed to bring costs down to levels suitable for general clinical use. Overall, precision medicine represents an evolution in how we classify and treat disease – moving from broad disease categories based on symptoms to molecular concepts of disease. While full realization of its promise will take time and significant effort, precision approaches ultimately aim to deliver the right treatment to the right patient at the right time.
Genomic Medicine and the Future of Health Care
As precision medicine permeates more areas of health care, its far-reaching impact will likely transform how research is done, diseases are classified, treatments are developed and health care is delivered in several key ways:
– Genomic information will increasingly be incorporated into electronic health records to better inform diagnosis and treatment decisions at the point of care.
– New clinical trials evaluating genetic factors will provide insights into variable drug responses and disease susceptibilities in different subpopulations.
– Large biobanks with extensive genetic, health and lifestyle data will accelerate both basic research and translational applications like biomarker and drug target discovery.
– New forms of preventive health counseling will emerge based on genetics, enabling individuals to better understand their risks and take actions to prevent diseases before symptoms appear.
– Molecular screening and profiling technologies will become integrated into standard medical care pathways for evaluating disease risks, detecting early onset and guiding treatment selection.
– Targeted therapies developed through personalized medicine approaches may transform how cancers and other complex diseases are managed, focusing on each patient’s unique molecular profile.
– Delivery models will adapt to provide personalized care through coordinated specialist care teams that integrate primary care, genetics expertise, data analysis and molecular profiling services.
While realizing this bold vision of personalized care will require ongoing effort and investments, the transformative potential of precision medicine to revolutionize health and medicine make its further development and widespread adoption critical national priorities over coming decades. By leveraging the rapid genomics revolution, precision approaches ultimately aim to match the right therapeutic strategy with the right patient to maximize outcomes and value from our health care investments.
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1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it
