Innovation in life sciences, genomics and precision medicine

Innovation in life sciences, genomics and precision medicine

One of the keynote addresses at next month’s Health 2.0 Conference in Barcelona will address the topic of personalized health and care in 2020, and how data and technology can be used to transform outcomes for patients and citizens. In this article, we look at the innovations in life sciences, genomics and data analytics that will potentially usher in a new era of precision medicine to overcome the current challenges by generic treatments.

It will look at how better use of technology has the power to transform the quality and costs of health care services, providing patients and citizens with better control over their health and wellbeing, reducing the administrative burden for care professionals, and supporting the development of new medicines and treatments.

The principles of modern medicine, as practiced today, originated in the 19th century. While refinements and advancements make the current operating model almost unrecognizable, the underpinnings remain essentially the same. This is about to change as personalized precision care supersedes the traditional model of healthcare.

The significance of personalized medicine

To fully understand the significance of this change, it is critical to understand the difference between current practice and personalized, precision care. In traditional medicine, as practiced by all licensed physicians today, the goal is to identify pathology and treat it. This principle also applies to most preventive care; as symptomatic treatment for bowel polyps, infection screens, elevated cholesterol, blood pressure and so on –all require signs that the body has strayed into the early stages of disease and must be brought back to ‘health’.

Precision medicine however, seeks to treat problems by proactive action, prevent issues from arising in the first place. At a general level this is not new; recommendations involving diet, and exercise, for example, have been around for many years. Indeed, it is clear that proactive approaches have transformative health consequences at a population level.

Personalized medicine harnesses the potential benefits of prevention directly to the individual offering the opportunity for that individual to have a longer, better quality life and not just a statistical likelihood of such.

Interest engendered by the human genome project has been stimulated by President Obama’s precision medicine initiative and heightened by Vice-president Biden’s cancer “moonshot”.

Genetic testing is available, but making sense of the data is the challenge

Yet, personalized medicine remains little more than an ideal, despite the availability of relatively affordable genomic testing. This is largely a result of our as yet imperfect understanding of the data that we have. Picking out the significant changes, from the millions of variants that the typical human has, is a Herculean task, one that is not immediately obvious to the lay observer who is presented with the promise rather than the actuality.

The promise and reality however, both being situations that the establishment, whether traditional medicine, pharma, insurance or government have not yet fully prepared for in terms of either challenges or opportunities.

However, to be successful, it will be necessary to focus on who the genomic data comes from as interpretation is informed by the person and their phenotype. Thus an Indian with hypertension may require a different interpretation for a given gene change from an elderly Maori or a Finnish infant born into a family of normotensives.

It is this realization that has fostered the latest generation of biotech companies focused on ‘smart data utilization’. As Dr Jonathan Picker, faculty at Harvard Medical School and Chief Scientific Officer of Global Gene Corp, an innovative genomics company co-founded by Harvard clinicians that is acquiring and applying genomics data in Asia, states, “To provide precision care, it is necessary to first understand the person before you can understand their genome”. The company is a provider of high-quality genetic testing services that are predictive and preventive in nature and provide actionable information to physicians even before the symptoms of a disease become evident.

The opportunities from smart data utilization in genomics

While revolutionary in its own right, genomic data offers more than direct personalized precision therapy. Expanding the derived data from individuals to groups allows new explanations for diseases to be discovered and even new diseases themselves. With this new understanding comes new approaches for treatment that are already taking place as genomic targets and treatment methods are uncovered.

It is by these means that much of the “moonshot” will be delivered, allowing cancer to follow infectious diseases as a scourge of the past. Indeed, genomic data will likely be the avenue by which the problem of antibiotic resistance is tackled. Similarly, neurologic, orthopedic and other specialities will all fall under the sway of genomic analysis and treatment, which may be both generalized and ultimately individualized in terms of drug development and implementation. This could be a revolution for the individual, doctors, pharma and ultimately society.

The delivery of precision medicine has already started and it is only a matter of time before it dominates the healthcare industry and changes the way we perceive medicine. As Dr Picker at Global Gene Corp summarizes, “The rate at which this happens, like the computer industry in the 1970s is being driven by a combination of scientific advancements and commercial opportunities that similarly will likely both lead and shape the societal changes.”

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