With over 1.7 million new cases diagnosed globally each year, approximately one in eight women will develop breast cancer in their lifetime. However, ushered in by the Fourth Industrial Revolution, the ascent of personalized medicine will render a future diagnosis of breast cancer naïve.
Diseases and cancers in particular will be defined by their unique molecular underpinnings. Our deepened understanding and technological advances will transform the future of global medicine. A patient’s specific molecular background will dictate their treatment; patients and drug discovery companies will unite to bring the right drug to the right patient; and people will be empowered to monitor and to take control of their own health.
Your molecular profile will dictate your treatment
Sir William Osler, often hailed as the “Father of Modern Medicine,” once said: “If it would not be about the variability among individuals, medicine could well be a science not an art.”
Personalized medicine will be science-driven. Today most diseases are still classified by the affected organ or organ system (breast cancer, for example). However, that diagnosis reveals little about the nature of a particular patient’s illness. More helpful would be a diagnosis that captures the phenotype, including genetic, proteomic, and metabolomic biomarkers. These biomarkers will provide detailed cellular information about the aberrations driving a particular patient’s disease and also suggest the most beneficial therapies.
Recent advances in the industry and more sophisticated diagnostic technologies have enabled scientists to mine diverse diseases with great precision. Next generation sequencing (NGS) is already here - and we routinely map whole genomes. In many cancers, more than 50 types of mutations have been uncovered by NGS. We will untangle how many of these mutations cause diseases, and how we can use genetic information to design therapies.
However, beyond sequencing, additional biomarkers are being developed that could have an even greater impact on diagnosing and treating disease. Applied Proteomics Inc (API), co-founded by a computer science engineer and an oncologist, are developing tests to measure hundreds of thousands of different types of proteins from a single drop of blood.
Proteins are dynamic, constantly being turned over in a cell, and their presence or absence can relay information about disease mechanisms. In fact API has uncovered a panel of protein biomarkers to detect colorectal cancer, one of the most deadly yet preventable cancers.
Meanwhile, my own company, Olaris Therapeutics, uses a nuclear magnetic resonance (NMR) platform to uncover previously unknown metabolite biomarkers and molecular targets. In a single experiment, Olaris technology can quantify nearly all human metabolites, providing a true snapshot of all the active (or inactive) pathways in a cell, whether diseased or healthy. Coupled with our machine learning algorithms Olaris has uncovered metabolic fingerprints to stratify “breast cancers” into subtypes, providing new biomarkers for diagnosis and suggesting new therapeutic targets for development of precision therapies.
Biomarkers are also being used to predict response to current therapies such as the OncotypeDx genetic test that predicts chemotherapy benefit and likelihood of recurrence for breast, colon and prostate cancer patients. Biomarkers are fundamentally changing how we diagnose and treat disease.
Your medical future will likely include genetic, proteomic and metabolomic tests for biomarkers in order to properly diagnose and design treatments for your particular disease. However, unless we change the funding landscape these breakthrough biomarkers that could literally save your life may never be uncovered.
Diagnostic tests are estimated to influence 70% of the decisions made by US physicians, yet only 2% of the $2 trillion spent annually on healthcare flows to diagnostic providers. For precision medicine to reach its full potential we need to identify and invest in biomarker discovery. Lack of high returns rates means many investors shy away from diagnostics, stalling further innovation. This is frustrating. Biomarkers are the key for personalized medicine. We need to create new systems that recognize and support the role of diagnostic biomarkers in the future of our health.
Imagine if you or someone you love were diagnosed with breast cancer, wouldn’t you want their physician to have access to diagnostic tests to pick the right treatment for them - as opposed to the wrong one?
Personalized medicine hinges on bringing the right drug to the right patient at the right time. Matching the right drug to the right patient will be a collaboration between pharmaceutical companies developing the drug and patients seeking its access.
The future of personalized medicine will include using your molecular data and your phenotypic response to therapies to determine the patient class most suitable for a particular treatment. For example, in rheumatoid arthritis over 50% of patients do not respond to current drugs. We should identify diagnostic biomarkers to stratify the responders versus the non-responders. This will reduce drug wastage and streamline therapies to the patients likely to benefit.
In addition, new R&D efforts can be established to develop novel targeted therapies for the under-served class of patients. This collaboration has the potential to be a win-win for both phaermaceutical companies and patients. The upside for the patients is clear. Therapies will be tailored to their molecular profiles, leading to more effective treatments and likely fewer side effects.
It will also cut healthcare costs by reducing treatments unlikely to provide any benefit. There is also an advantage to the pharmaceutical companies. While the new drug stratification regimes will cause the market size of some drugs to decrease, for other drugs the biomarker testing will identify new patient populations.
This was the case for gefitinib, which was originally prescribed for non-small-cell-lung-cancer (NSCLC) but has now been shown to be effective against many cancers.
Currently, almost a third of the drugs in clinical development have a companion genomic or proteomic biomarker, a 50% increase over the last two years. This will (or should) increase even further as biomarkers become embedded in the drug development process. Due to the economic and health benefits, patients and pharmaceutical companies should unite to use molecular data from patient populations to bring tailor-made personalized medicines to market.
You will be able to access, monitor, and control your own health choices
Personalized medicine is technology driven and intimately patient-centered. It is the patient’s own molecular data that guides diagnosis and treatment. Just as biomarkers are being used by pharmaceutical companies to develop drugs, in the future, biomarker data should also be used by the individual – who will have access to this data - to remain healthy.
Preventive medicine will be a major aspect of the future of personalized medicine. Patients of the future will be more informed on their health and have access to more of their own health data than ever before.
In fact, monitoring your health in the future could be like a real-world video game. Future biomarkers will be able to more accurately identify increased risk of stroke or cardiovascular disease, the onset of dementia, macular degeneration, diabetes, and many other health related issues.
As biomarker databases expand, consumer products will also grow, allowing individuals to monitor important biomarkers in real-time. Smartphones can already be used to take blood-pressure readings and even do an electrocardiogram. In the not-too-distant future smart phones or other personal devices may be outfitted to measure biomarkers so that individuals can monitor and track how lifestyle choices influence their future health.
This will empower patients to become more involved in their health and medical choices. However, while incredibly exciting and potentially powerful, this will also require investment in health literacy. Consumers will need to develop an understanding of the data and how to translate increased risks for certain diseases into actionable healthy choices.
Today, we mostly wait for our health to fail before we diagnose and treat disease - personalized medicine has the potential to change that. By empowering patients with the ability to access and monitor their own molecular data, patients can take centre stage in controlling their own health.