The move to personalized medicine

Remarkably, it’s only a little over 10 years ago that the human genome was first sequenced, and perhaps you’ll remember, what a major breakthrough it was. First discussed back in the mid 1980s, the project finally got underway in 1990, with many organisations and universities around the world contributing to make it happen. The resulting information has led to a fundamental understanding of the biological causes of over one hundred of the most common diseases in the world, including most cancers, diabetes and heart disease. This, combined with the digital revolution allowing for human data capture through implantable and wearable devices, and the ever speedier ‘big data’ ICT programmes able to unravel complex data patterns, has led to a super-convergence of technologies that will disrupt the way healthcare is delivered.

According to the Personalized Medicine Coalition (PMC) this new way of working is ‘an evolving field in which physicians use molecular diagnostic tests to determine which medical treatments will work best for patients. By combining the data from those tests with a patient’s medical history and circumstances, health care providers can develop targeted prevention and treatment plans’ . It has already begun to make a difference. If women with breast cancer would receive a genetic test of their tumour prior to their treatment, this would lead to a 34% reduction in chemotherapy use. Or, if a genetic test would be used to properly dose a blood thinner medication, 17.000 heart strokes could be prevented each year. Personalized medicine also has a tremendous societal cost impact; it is estimated that around $604 million in annual healthcare costs could be saved if patients with metastatic colorectal cancer received a genetic test prior to their treatment.

Personalized medicine is a medical model that proposes the customization of healthcare using molecular analysis. It means that medical decisions, practices, and/or products can be tailored to the individual patient. 

At its most basic, personalized medicine is made possible by a targeted therapeutic, usually a drug or biologic agent and a companion diagnostic. The latter is a medical device or a lab-developed test that identifies a biomarker – a measurable substance in an organism like a gene, a protein, or a biological element – that can be associated with a disease state or that can be used as feedback, steering the proper course of treatment for a particular patient.

Personalized medicine however is not only able to deliver better medicine through better diagnosis and treatment, it also allows for early detection of disease at the molecular level, which enhances the chances of early and therefore better treatment. It also saves costs to society by keeping patients out of later, more expensive treatments. Furthermore, the convergence of targeted biological and digital mobile technology allows the individual to be more informed on their health status and also provides the tools to actively manage their lifestyle, behaviour or treatment.


A recent Vlerick Health Management Centre simulation exercise showed what a difference personalized medicine would make to national health policy on breast cancer treatment and how much more cost-effective to society it would be if there was an investment shift from the ‘hospital-based in-patient’ modality to a ‘physician-based out-patient infrastructure’. In the proposed policy, the female population would be stratified much earlier into high/low risk groups (for breast cancer) by applying a combination of personalized electronic health records documenting their individual patient history and genetic testing. Currently, testing is only done later and is non-targeted, (invariably it is applied to all women over 50 years), using hospital-based mammography testing, a clearly less comfortable and apparently less cost-effective diagnostic method . [read the full article]

In truth though, we are only on the verge of the personalized medicine era, and there is still much work to be done. The early ‘easy’ discoveries have been made, such as Genentech’s Herceptin targeting breast cancer patients with a specific genetic mutation – it was, in 1998, the very first drug in this category approved by the FDA or Novartis’ Gleevec (FDA approved in 2001) which targets the treatment of chronic myelogenous leukemia (CML), a rare form of cancer. For patient-specific healthcare to expand beyond cancer, academia and the life sciences industry will need to learn more about complex disease origins. This will require knowledge about the vastly more complex human proteome i.e. the set of proteins expressed by a genome, individual cell, tissue or organism at a certain time. Massive collaboration between previously isolated health system agents will be needed to take on this challenge (just as was done for the human genome). If we are to eventually open the door to a cure to obesity or Alzheimer’s disease, we will need an open innovation consortia among health providers and competitive life sciences companies to analyse common data repositories linking human phenotype and genetic data. Questions about its cost and effectiveness remain however, and while targeted treatments are still very expensive, health payers and regulators will need to be included in the innovation process much earlier for novel technology to be made accessible at a price society is willing to pay.

Smart lens technology involves non-invasive sensors, microchips and other miniaturized electronics embedded within contact lenses. Not only can it restore the eye’s natural autofocus mechanism, it has the potential to help diabetic patients manage their disease by providing a continuous, minimally invasive measurement of the body's glucose levels. [read press release Novartis]

Surgeons have always needed an extra pair of hands in the operating room, and Google glasses may well be one answer. Monitoring data can be constantly updated, and it can also be used to record notes.

The move to personalized medicine

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