Today, we wait for a disease to occur, then act. The future is predictive, preventive & personalized.

“Tonight, I’m launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes — and to give all of us access to the personalized information we need to keep ourselves and our families healthier.” President Barack Obama

Those are the words of the U.S. President as he spoke to the American public with his 2015 State of the Union address, talking about the “personalized information we need to keep ourselves and our families healthier.

Our current diagnostic and treatment methods are quite often supremely inefficient. There is a big inherent problem with searching for a diagnosis one gene at a time. Doctors have to first come up with multiple possible diagnoses, aka the differential diagnosis, and then order one or more individual genetic tests… and then wait. They wait to see if their hunch was right. If the tests come back negative, they’ve (we’ve) spent thousands of dollars and still can’t pinpoint the problem. Eliminating possibilities one by one, rather than pinpointing rogue genes from the start, was supremely inefficient. With whole genome sequencing, we can examine the entire genome for thousands of genes all at once… Fortunately, across the world, more and more, this is starting to happen.

Imagine visiting your physician regarding an ailment and having treatment options offered to you based upon your genetic code. Or filling a prescription that was offered to you based upon your DNA. Undergoing cancer treatment and receiving a chemotherapy cocktail carefully tailored to data derived from the tumor itself. That is the power of personalized medicine.

Next-generation Medicine

Over a decade ago, the world’s largest ever science project was completed — the Human Genome Project. It was a massive undertaking and cost nearly $3 billion dollars, and many saw this as the beginning of a new era of personalized medicine.

We started at $3 billion and now we here.

So what happened after the project was completed? Doctors and scientists certainly were not immediately equipped to predict your medical future.

Initially, there were two problems with genome sequencing:

(i) The first was that it took this past decade to figure out how to get the cost of sequencing a human genome down to the tipping point that will lead to widespread adoption. Finally, in January 2014, over 13 years after the human genome was sequenced, we arrived at the long-awaited $1000 genome.

(ii) The second problem was what to do with all the information once we had it. Genome sequencing provides a massive amount of information, and this information needs to be interpreted in a useful way. After the completion of the Human Genome project in 2003, the US National Human Genome Research Institute explained the dilemma:

“Having the essentially complete sequence of the human genome is similar to having all the pages of a manual needed to make the human body. The challenge to researchers and scientists now is to determine how to read the contents of all these pages and then understand how the parts work together and to discover the genetic basis for health and the pathology of human disease.”

Simply put, we knew where all the different parts went, but we still had to examine them to find out what they did and how they did it. It’s also not as simple as “this gene causes this thing to happen”, because multiple genes can, together, produce entirely different effect than each of them has on their own.

Even now, however, our healthcare system often doesn’t feel very personalized. The challenges of our healthcare system still drag on, with the physician being the CEO of your health, often dishing out one-size-fits-all treatments. Thankfully, a dramatic shift is happening in the medical world.

Even now, however, our healthcare system often doesn’t feel very personalized. The challenges of our healthcare system still dragged on, where everything was doctor-centric, with the physician being the CEO of your health, and dishing out one-size-fits-all treatments. Thankfully, a dramatic shift is happening in the medical world.

The healthcare tides are changing.

Personalized medicine is on the front lines now. Finally, we are moving towards a data-driven, individualized, patient-centric system, where the patient is in the driver’s seat, and his/her genetic makeup is used to guide diagnoses and treatment.

There have been major advances in the years since the Human Genome project was completed, but there is also still a long way to go.

  • Cancer has moved from a single disease to hundreds of specific disease
    Medicine has moved from targeting symptoms to targeting causes
  • Healthcare as a whole is moving from defining disease by organ systems to defining them by mutations and networks
  • Genome sequencing is moving into hospitals and clinics, and data science is transforming healthcare.

Precision Medicine: The use of genomic information to identify disease origins, develop targeted therapies, and improve outcomes.

Alan Guttmacher, Director, US National Institute of Child Health and Human Development , said last year:

“One can imagine a day when every newborn will have their genome sequenced at birth, and it would become a part of the electronic health record that could be used throughout the rest of the child’s life both to think about better prevention but also to be more alert to early clinical manifestations of a disease.”

So what? Practically speaking, what will having your genome sequenced mean for you?

1. Precision diagnostics. As doctors, we can’t always tell what exactly is wrong with you. Right now, it’s thought that upwards of 20% of medical advice is incorrect. A lot of diseases present with very similar symptoms and can be difficult to tell apart. In the future, you’ll be diagnosed more quickly, more accurately. This has tremendous benefits for individuals with rare, undiagnosed diseases, including babies in the NICU with an unknown condition that may be genetic.

2. Tailored therapeutics. Your treatment can be customized to suit your genetic profile. Drugs work very differently in some people, and the individual’s genome is the best source of information about treatment response and tolerability. Tailored therapeutics is becoming increasingly common, especially in oncology, but we’re seeing it in many other areas as well. In fact, over half of all cancer drugs last year had a specific molecular target. Using genomic information to guide treatment can save lives.

3. Genetic risk assessment. Looking at your genome, you and your doctor will be able to see what you’re at risk for (you only need your genome sequenced once). Having your genome sequenced will not only improve your medical care, but it may help you make certain adjustments to your life to ensure continued health. Preventative medicine. There are many disease-related genes that have not yet been identified, but as these genes are discovered, your genome data can be searched to determine whether you are at risk or not. In the not-too-distant future you may even receive messages from your physician to tell you this.

The information in your genome can turn any doctor into a specialist in YOU. What are you at risk for? What symptoms should we all be looking for? Instead of waiting for a disease to occur and then reacting, we could be proactive. Genome sequencing has the potential to create a healthcare system that is predictive, preventive, and personalized.

Your car has a pretty sophisticated dashboard, why don’t you?

Sensors, trackers, devices.. Digital health is going mainstream. We can do on our cell phone now what we could only dream of years ago. Look how fast we’ve gone from room-sized computers to powerful smartphones. Of the 7 billion people on the planet, over 6 billion of them have cell phones. And the vast majority keep that phone within 3 feet of them 24/7.

Digital health + Proactive patients = Progress

A few trends that taking shape:

  • Decision making is shifting from doctors and patients to machine intelligence. For example, look at AliveCor, the smartphone case that records ECGs. This flood of data from sensors, apps, and microdrops of blood can be very powerful.
  • Prices are becoming more and more transparent. Patients in some instances are even getting rewarded for being healthy.
  • Data sharing. You’re an organ donor, but why aren’t you a genome donor? Information is more valuable when shared. Let’s free the data and move from genetic scarcity to genetic abundance. Silos hinder progress.

And this is all just the tip of the iceberg… a tiny peek at what lies ahead as the potential of personalized, precision medicine. Instead of settling for the current, broken system of assembly-line medicine, your future healthcare should be predicated upon you and your healthcare providers having access to incredibly specific genetic data — your individual genetic blueprint.

Precision Medicine

A forward-looking journey through the use of genomic information to identify disease origins, develop targeted therapies, and improve outcomes.

    Reid J. Robison MD MBA

    Written by

    Eating Disorders Physician, Body Positivity Activist. Medical Director at Center for Change. Co-founded Anolinx, Tute Genomics, Polizzi Free Clinic.

    Precision Medicine

    A forward-looking journey through the use of genomic information to identify disease origins, develop targeted therapies, and improve outcomes.

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