The state of precision medicine in 2016

Jennifer Girka, Healthcare Strategist, Healthcare & Life Sciences, Dell

When President Obama announced the $215 million Precision Medicine Initiative in his 2015 State of the Union address, he brought into American living rooms a conversation that has been taking place in labs for at least 20 years. Health scientists have long posited that if we could understand the genetic, environmental and lifestyle precursors for diseases, we could treat them much more effectively and perhaps even prevent many of them.

Over the course of the last two decades, we’ve made exponential strides in our understanding of the human genome. At the same time, our ability to store and analyze massive amounts of data has improved significantly and continues to evolve at a rapid pace. There’s no doubt precision medicine is an idea whose time has come. Of course, for many, it’s not soon enough. On average, any given prescription drug on the market tends to work for only half the patients for which it is prescribed. Meanwhile, diseases like cancer, Alzheimer’s, cystic fibrosis, heart disease, diabetes, depression and many others affect patients and families around the world.

As with any journey, it’s important in our quest for precision medicine to keep track of where we came from, where we are right now and how to get to our destination. With that in mind, let’s take a look at the state of precision medicine today.

Checking the vitals of precision medicine

The National Human Genome Institute accomplished its goal of sequencing the first human genome in 2003. Things have moved quickly since then. According to the National Institutes of Health (NIH), researchers have discovered more than 1,800 disease genes, and there are now more than 2,000 genetic tests available and more than 350 biotech products currently in clinical trials.

These trials are working toward identifying markers and developing precision treatments for a number of diseases:

  • Cancer – $70 million of the Precision Medicine Initiative’s funding is being applied to cancer research through the National Cancer Institute to help them scale up efforts to identify genomic markers in cancer and help speed the development of more effective and accurate treatments. There are a number of other organizations working toward the same goal. Thanks to new advances in technology and high-speed computing power, the Neuroblastoma and Medulloblastoma Translational Research Consortium (NMTRC) can now do RNA sequencing analysis for children with this disease in about an hour, instead of the typical seven days — precious time that can make treatment more successful. Some institutions are even able to analyze tumors for the most effective treatment course while the patient is in the room.
  • Heart disease – Recently, Geisinger Health announced that it has recruited 100,000 people for its genomic study, with the expectation of recruiting an additional 150,000. This is one of the largest electronic-health-record-linked studies in the United States. Its focus is on 27 conditions including familial hypercholesterolemia, which is one of the most common secondary findings in a healthy genome. Even a single defective copy of this gene can make a person more susceptible to high cholesterol, which can, of course, ultimately lead to cardiovascular disease.
  • Cystic fibrosis – This is an area where we’re seeing precision medicine take great strides. Doctors are now able to target cystic fibrosis patients’ exact gene mutation and treat it with very specific drugs, like ivacaftor and lumacaftor.
  • Alzheimer’s – Alzheimer’s disease is becoming increasingly common as our population ages. And while doctors have a good understanding of the causes of the disease, treatment has remained elusive. Researchers are utilizing genetic and genomic approaches in order to flag the disease in its earliest stages before plaque begins to form on the brain. Researchers are also considering the impacts of lifestyle along with the genetic and genomic approaches. More research is needed, but precision medicine offers exciting opportunities for treatment.

Of course, there are many other studies and applications of precision medicine taking place across the country. The Precision Medicine Initiative earmarked $130 million for the NIH to develop a voluntary national research cohort of a million or more volunteers who accurately reflect the U.S. population and will openly, securely share their health data. This will give researchers a powerful information resource to help answer important health questions and extend precision medicine capabilities into common diseases such as diabetes, obesity, heart disease, Alzheimer’s and mental illnesses, including depression, bipolar disorder, and schizophrenia. The NIH data will be gathered from disparate health records, wearables, genetic analyses and smart phones, with a target completion date of 2019.

The state of technology

This massive undertaking would simply not be possible without the technology to support it. Forget “big data” — precision medicine requires the storage and real-time analysis of colossal data. Remember the first genome that was sequenced back in 2003? It took close to 10 years and hundreds of millions of dollars to complete. As of 2014, sequencing a genome cost around $1,000 and could be done in hours. Today, consumer versions of genomic sequencing are available for $100 or less, although they aren’t approved by the FDA for quality or accuracy. With the ever-decreasing cost and increasing health value of the test, some say approximately 1 billion people will have their genomes sequenced by the year 2025.

Most organizations are storing this data on-site but are having to constantly expand their file storage. This IT scalability challenge has led many to adopt a “cloud-first” strategy, although moving this volume of data to the cloud has its challenges. Understanding that genomics will be a $22 billion industry by 2020, many large cloud providers have offered hosting services for genomics providers, sometime even hosting datasets for free. The cloud offers several benefits for genomics providers, including cross collaboration, better privacy controls and speed of analysis. But of course, cloud storage of sensitive, HIPAA-regulated information opens up another range of concerns of which cloud providers, genomics organizations, researchers and patients all have to be cognizant.

The new era of precision medicine

As the NIH Precision Medicine Initiative Cohort Program website says:

“Many factors have converged to make now the right time to begin a program of this scale and scope — Americans are engaging in improving their health and participating in health research more than ever before, electronic health records have been widely adopted, genomic analysis costs have dropped significantly, data science has become increasingly sophisticated, and health technologies have become mobile.”

It’s an exciting time for health scientists, health providers and patients alike as we move into a new era of medicine. In the near future, health providers will be able to help patients overcome health challenges that today are life altering or life ending. The answers to some of healthcare’s greatest mysteries will be delivered in real-time to our mobile phones. Parents will be able to plan treatments for their children before they’ve even been born, and every person will know how to limit risk factors based on their own personal encoding. And in that future, it will just be medicine as usual.

Dell, National Human Genome Institute, NIH Precision Medicine Initiative Cohort Program, Precision Medicine


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