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Precision Medicine. It’s a phrase we’re hearing and seeing more and more related to medical treatments. But what does it mean? In very simple terms, it is medicine precisely tailored to each individual. Here we explore the meaning of precision medicine, looking at the important role genomics and Big Data play in curing patients. Learn more about the story your genes tell about you – and how precision medicine may someday save your life, or the life of someone you love.

You’re sitting in your doctor’s office awaiting the diagnosis. You know something is wrong; that’s why you’re there. Nonetheless, you’re hoping for the least-bad outcome as your stomach does a flip and you take a deep breath.

The oncologist enters. She has your biopsy results and other paperwork in hand. She sits down, a serious look on her face.

The prognosis: stage 3-A breast cancer. The nodules they spotted on the mammogram are in fact cancerous and they’ll need to be removed, together with the 2 mm margin of tissue surrounding them. She proceeds in explaining your options: a lumpectomy; full breast removal; or …

For a moment, you hear only the clock ticking on the wall.

This is what you thought. You knew – deep down. But, you still were hoping for something not-so-bad. You bite your bottom lip as the rush of emotion and reality hits you like a wave. Breathe again – pinch. No, this isn’t a dream. This is real.

Preparing solution for gene sequencing

Your oncologist proceeds to explain how things have changed in the field of oncology and being diagnosed with cancer today isn’t like it was 20 years ago. Technology and medicine have advanced. Today we know that what was once thought of as a single disease is really a collection of related diseases defined by changes in DNA and other alterations in molecules that are present in tumor cells.

She explains that through genetic testing and analysis, technicians and doctors can now identify genetic and molecular changes specifically relevant to breast cancer, and use these to recommend a treatment protocol that is most likely to be successful for your unique disease. In fact, the genetic changes in your tumor suggest a particular therapy that has proven highly effective for similar patients. You breathe a sigh of relief and start to plan with your doctor how to move forward and beat the cancer.

While this sounds like the future regarding cancer and other diseases, discussions such as this are becoming increasingly commonplace. As our understanding evolves to reflect how genes and their variants influence disease, genetic analysis is increasingly becoming the key to effective treatments.

Beyond treating disease, we are doing a much better job of identifying genetic factors that are associated with predicting our risk of developing disease. There is a growing catalog of mutations that, if present, increases the likelihood that we will develop a disease like cancer.

An example of the way in which genetic screening can influence health decisions was shared by Angelina Jolie, actress, director, humanitarian and mother, when she wrote in a 2013 NY Times Op Ed:

I carry a ‘faulty’ gene, BRCA1, which sharply increases my risk of developing breast cancer and ovarian cancer. My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer. . . . Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action.

Mapping the Human Genome & Precision Medicine

The initial mapping of the human genome, and new technologies for genetic analysis that developed from the Human Genome Project, were the catalysts that paved the way for precision medicine. And the changes that have occurred have been dramatic. When the first human genome sequence was completed in 2000, it was estimated that sequencing another genome would cost hundreds of millions of dollars. It would require an unimaginable number of people and resources and would take a year or more to complete. The question was whether we could learn something from the sequence of a single individual alone. Aside from a few examples like sickle cell disease or cystic fibrosis, where we understood the genetic cause, there was little that could be said about any genetic variants that might be found. This is an important point—a single genome sequence in isolation doesn’t tell us very much.

To make genetic information meaningful, we need to cross-reference large numbers of sequences derived from individuals about whom we know something related to their health status. We need a large enough collection of data to be able to ask, “When I compare two groups of people who differ in some meaningful, health status, are there reproducible differences in their mutational status?”

“What we hope to be able to do is to match that person's unique genetic background with the most effective therapy.”

Video: Innovation in Medical Science: The Impact of Precision Medicine

Now there are technologies that can sequence a human genome in a day or so for a few thousand dollars. This has fundamentally altered how we think about the role genome sequence information plays in research and the practice of medicine.

We can now collect data on large populations and, if we link the sequence data to health records, we can tease out genetic variants that are relevant for understanding disease. This is most obvious in diseases like cancer, where we find patterns of “somatic” mutations occurring as the tumor develops that transforms normal cells into cancer cells, causing them to grow out of control. And the excitement about how we will use this data is directly tied to the cost of generating the data.

But as the cost of DNA sequence data generation drops to $1000 (or less) for a human genome, the major question is how expensive is it to make sense of the data?

Elaine Mardis, a woman identified by Thomson Reuters as one of the World’s Most Influential Scientific Minds 2014, wrote a highly cited article in 2010 entitled “The $1,000 genome, the $100,000 analysis?” In the article, she argued that although sequencing costs were falling, the ultimate use of sequencing data would be dictated by the cost of analysis, which she projected would remain high. But is that really the case?

Power of Interpretation

Elaine Mardis framed the challenge well and even today we can imagine scenarios where the cost of analyzing genomic data is extremely high. One commonly cited example is “the diagnostic odyssey,” the situation where a child has a rare, inborn disease that is difficult to diagnose. And so to get at the cause of the disease, the child, his parents, siblings, and other relatives are sequenced and then the billions of bases of DNA sequence are painstakingly pored over, often by teams of experts, to search for a likely cause. But examples like this are the exception; they’re not what we’d expect to see if precision medicine is to become commonplace.

Instead, we should think about cancer, which affects 1.6 million new patients in the U.S. each year. While there are some patients with diseases that are resistant to therapy, the important question for most is a simple one: “Given the type and mutational state of your tumor, what approved therapy is most likely to be effective and which are unlikely to work?” In this situation, the sequence data in the context of the patient’s disease is what is important. And the analytical challenge of not finding the mutations is overcome by having an accurate and up-to-date knowledgebase cataloging the associations between mutations and therapies.

If you have cancer, and have had your cancer gene sequenced, that data may provide your oncologist with information about which drugs are likely to be effective treatments and which are not. As precision medicine becomes more commonplace, the challenge for doctors is not only understanding the human body and how it works, but also about understanding genomic data and how to interpret it.

The Backbone of Precision Medicine

The Thomson Reuters Clinical Genomics Toolkit is a genomics-centric database; it’s a resource designed to close the gap between sequence data and its interpretation. The toolkit has been evolving over the last decade and comprises drug information and clinical trial data from around the world. It also includes gene variant disease associations, gene variant drug response associations, and extensive data on drugs, trials, and biomarkers.

Assuring that the “right information” in the “relevant format” is available to a trained physician interpreting genomic data is an essential component of enabling precision medicine. GenoSpace FullView™ is an advanced knowledge management system that allows a molecular pathologist to integrate results from multiple genomic and other diagnostics assays and link relevant mutations with associated therapeutic information, like that available through the Clinical Genomics Toolkit.

The FullView™ system facilitates the use of that information to rapidly assemble and sign out a diagnostic report designed to be accurate and easily interpretable by a treating physician. The goal in creating the system was to provide a framework for production of reports containing information that could help treating physicians make the best, evidence-based decision for their patients. As physicians see the value of such reports in improving outcomes and managing the cost of care, precision medicine in oncology has begun a rapid expansion that is likely to propel it to become the standard of care in cancer treatment in the not-too-distant future.

But oncology is not alone. Precision medicine is also making inroads in other diseases. For example, in cardiovascular disease, we can look at specific mutations and make predictions if a patient will or won’t respond to certain blood thinners. In some neuro-psychiatric diseases, a patient’s genetic background will help dictate which drugs may be effective. And in neo-natal screening, we are seeing growing numbers of mutational tests that can detect inborn errors of metabolism—some of which are treatable if recognized early. The number of diagnostic, prognostic, and theranostic genetic markers will continue to grow over time. What is needed, and the problem that GenoSpace set out to solve, is that of making sure information is delivered to physicians in a form that is useful and usable in treating their patients.

It’s All Connected

Recently there were 10 meaningful predictions made about the World in 2025, and several of them are related to genomics. One was that incidence of dementia will decline significantly in the next decade because of a better understanding of the human genome and genetic mutations, which will lead to the improved detection and prevention of the onset of neurodegenerative diseases such as Alzheimer’s. Another is that cancer treatments will have fewer toxic side effects because of the ability to target the mutant gene and drugs that are much more precise, binding to specific proteins and using antibodies to give exact mechanisms of action.

And yet another prediction is that Type 1 diabetes will become preventable given the versatile human genome engineering platforms being developed and the potential to use this to prevent certain metabolic conditions, like Type 1 diabetes.

All of these predictions point to the increasingly important role genomics may play both in our lives and in the future of healthcare. It’s not a matter of if or when. It is happening now and there is great opportunity to improve how disease is diagnosed, treated, and managed—provided we can deliver meaningful information to patients and their physicians.

The Future Is Now

The future of precision medicine is here. It is rolling out in major academic medical centers and university systems. The challenge is to continuously improve our ability to match patients with the effective, targeted therapies and to expand the repertoire of genetic variants that can be used to inform therapeutic decisions. Thomson Reuters has been a leader in assembling knowledge bases. GenoSpace is a market leader in software systems that provide simple and efficient access to accurate, contextually-relevant information at the point of care. And by democratizing access to information, we are driving the expansion of precision medicine.

For the woman diagnosed with stage 3 breast cancer, genomics offers a beacon of hope. Never before in the history of humankind has her chance of survival been better.

To everyone fighting the fight and battling disease today, I remind you of the promise of genomics and precision medicine. Wherever you may be in your journey, collaborate with your physician to make sure you are aware of the genetic mutations related to your disease, and find out how they are using that information to guide your treatment.