Genomic Medicine: Personalized Care for Just Pennies

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The Human Genome Project was one of the greatest scientific endeavors in the history of medicine. The international effort to sequence and map all human genes—collectively known as the human genome—was completed in April 2003. It provided researchers the ability to read nature’s complete genetic blueprint for human beings. The revolution in genomics offers tremendous opportunities to understand how an individual human’s specific genome sequence can influence health and disease. This creates the future possibility that clinicians will be able to practice genomic medicine and personalized care. It also has profound implications for the future of analytics.

Success of the Genome Project

A decade later, some have questioned whether the promise of the project was over-hyped. No doubt, researchers have encountered some unanticipated and complex challenges that must be overcome. However, significant progress has been made and the pace of progress is beginning to accelerate. The cost of sequencing a human genome has fallen from about $100 million in 2001 to approximately $1,000 today. By 2020, the cost is expected to be just pennies. As costs drop, advances in genomic research are accelerating.

Early genomic-based triumphs are happening with rare inherited diseases. These diseases afflict more than 25 million Americans. The plummeting cost of genomic sequencing has allowed scientists to discover the genomic defects for more than 5,000 inherited diseases. Researchers are now working on identifying the genomic cause of the remaining 3,000 to 4,000 rare human genetic diseases.

Using Genomics to Diagnose and Treat Disease

Advances are also appearing in our ability to diagnose and treat diseases. In February 2014, the New England Journal of Medicine (NEJM) published a study demonstrating that analyzing fetal DNA in a pregnant woman’s blood was a more accurate and less invasive way of screening for Down syndrome and other chromosomal disorders than methods such as ultrasound imaging and blood tests. The next month, the NEJM illustrated how human cells can be genetically engineered to make them resistant to the virus that causes AIDS.

The analysis of genomes is guiding treatment for various types of cancer. Experts are finding that cancer is essentially a genomic disease. For decades, cancer has been classified based on the tissue in which it was first detected (ex: breast, colon, lung, brain). Now, various types of cancer are can be categorized by genomic characteristics. Furthermore, treatments can be selected and tailored based on the underlying genetic signature of different mutations. This approach promises to offer patients the most effective treatment while also minimizing the undesirable side effects of treatment associated with chemotherapy and radiation.

Personalized Medicine through Genomics

Genomics is also starting to be used to improve the efficacy of medications and how clinical care is delivered. In the not-too-distant future, physicians will tailor treatment for many diseases based on an individual patient’s genomic profile.

Progress will not be limited to genomic-based diseases. While genes have a powerful influence on our health, they are also impacted by our lifestyle, habits, and environment. There is evidence to suggest that these factors can cause genes to be switched on and off or even altered. This opens the exciting possibility that genomic medicine could impact behaviorally and environmentally based factors that are known to be major determinants of health.

Increasingly in the future, personalized medicine will allow clinicians to tailor disease predictions, treatment, and prevention efforts based on an individual patient’s genetic profile. Physicians will be able to assess a patient’s risk of diseases like cancer and recommend preventive measures. Physicians will also be able to prescribe effective medications with fewer side effects based on the patient’s genomic-driven response to those medications. In short, the personalized medicine revolution promises to yield more effective diagnostic measures and treatments with fewer side effects leading to healthier, longer lives and lower healthcare costs.

The personalized medicine revolution is growing rapidly and proving to be commercially viable. According to a PricewaterhouseCoopers report, it is already generating $286 billion per year in revenues and is growing at 11 percent annually. The economic impact of personalized medicine promises to explode over the next few years.

Sensor Devices Will Aid Personalized-Medicine Trend

Other technological developments will facilitate this trend. The rapid drop in the cost of genomic sequencing to affordable levels will make it possible to collect genomic data on millions of people. In addition, advances in sensor and mobile technologies, including smartphones, will create an opportunity to capture vast amounts of information about our lifestyles and habits. Wearable devices will be able to record physiologic information such as temperature, heart rate, blood pressure, blood oxygenation, heart rhythm, sleep patterns, and weight. By combining these data with a patient’s genomic data, we will have the ability to understand the correlation between a patient’s genome, habits, and environment and disease. This is precisely what is needed to support personalized medicine and support individualized treatments for disease.

The Impact on Healthcare Analytics and Data

With this rapidly evolving progress in genomics, the implications for healthcare analytics are profound. The human body consists of about 20 trillion living cells, each containing about 24,000 genes. The amount of data that has been and will be produced by sequencing, mapping, and analyzing genomes will comfortably propel healthcare into the realm of big data (loosely defined as the analysis of very large datasets).

Genomics will produce huge volumes of data. Each human genome is comprised of over 3 billion base pairs. This amounts to 100,000 gigabytes of data. Sequencing many human genomes would quickly add up to hundreds of petabytes of data (a petabyte is 1015 bytes of digital information), and the data created by analysis of gene interactions multiplies the volumes of data even more. These vast amounts of data—coupled with equally vast amounts of physiologic and environmental data collected by wearable sensors—will position healthcare organizations to effectively deliver personalized care. However, it will also require that they master the art and science of analyzing very large datasets. Healthcare analytics will be propelled into an entirely different realm.

As these trends unfold, one thing is clear. The successful completion of the Human Genome Project was only the starting point. Genomic-based medicine offers tremendous promise and power to revolutionize clinical care, and it will exponentially change healthcare analytics.

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