Precision healthcare taps into your genome: Future of Health P3
Precision healthcare taps into your genome: Future of Health P3
We're entering a future where medications will be customized to your DNA and your future health will be predicted at birth. Welcome to the future of precision medicine.
In the last chapter of our Future of Health series, we explored the threats humanity currently faces in the form of global antibiotic resistance and future pandemics, as well as the innovations our pharmaceutical industry is working on to combat them. But the downside of these innovations is in their mass market design—drugs designed to treat the many instead of designed to cure the one.
In light of this, we’ll discuss the sea change happening in the health industry by way of three major innovations—starting with genomics. This is a field meant to replace disease killing machetes with microscopic scalpels. It’s also a field that will one day see the average person gain access to safer, more powerful drugs, as well as health advice customized to their unique genetics.
But before we wade into the deep waters, just what is genomics anyway?
Genome in you
The genome is the sum total of your DNA. It's your software. And it's found in (almost) every cell in your body. Just over three billion letters (base pairs) make up this software’s code, and when read, it spells out everything that makes you, you. This includes your eye color, height, natural athletic and intelligence potential, even your likely lifespan.
Yet, as fundamental as all this knowledge is, it’s only recently that we’ve been able to access it. This represents the first major innovation we’re going to talk about: The cost of sequencing genomes (reading your DNA) has dropped from $100 million in 2001 (when the first human genome was sequenced) to less than $1,000 in 2015, with many forecasts predicting it will drop further to pennies by 2020.
Genome sequencing applications
There’s more to genome sequencing than being able to understand your genetic ancestry or how well you can hold your alcohol. As genome sequencing becomes cheap enough, a whole range of medical treatment options become available. This includes:
Faster testing of your genes to identify mutations, better diagnose rare genetic diseases, and develop custom vaccines and treatments (an example of this technique saved a newborn in 2014);
New forms of gene therapies that can help heal physical impairments (discussed in the next chapter of this series);
Comparing your genome to millions of other genomes to better understand (data mine) what each gene in the human genome does;
Predicting your susceptibility and predispositions to illnesses like cancer to prevent those conditions years or decades before you would otherwise experience them, largely by way of safer, more potent drugs, vaccines, and health advice customized to your unique genetics.
That last point was a mouthful, but it’s also the biggie. It spells the rise of predictive and precision medicine. These are two quantum leaps in how we approach healthcare that will revolutionize the quality of your health, just as the discovery of penicillin revolutionized the health of your parents and grandparents.
But before we dig deeper into these two approaches, it’s important we discuss the second major innovation we hinted at earlier: the tech that’s making these medical innovations possible.
A CRISPR look at genes
By far, the most important innovation in the genomics field has been the new gene-splicing technique called CRISPR/Cas9.
First discovered in 1987, the Cas genes inside our DNA (CRISPR-associated genes) are believed to have evolved as our primordial defense system. These genes can identify and target specific, foreign genetic material that may be harmful and cut them out of our cells. In 2012, scientists devised a method (CRISPR/Cas9) to reverse engineer this mechanism, allowing geneticists to target, then splice/edit specific DNA sequences.
However, what's truly game-changing about CRISPR/Cas9 (let's just call it CRISPR going forward) is that it allows us to remove existing or add new gene sequences to our DNA in a way that's faster, cheaper, easier, and more accurate than all the methods used earlier.
This tool has become one of the key building blocks for the predictive and precision healthcare trends currently in the pipeline. It’s also versatile. Not only is it being used to create a cure for HIV, it’s also a tool now being used in agriculture to produce genetically modified plants and animals, plays a key role in the fast-growing field of synthetic biology, and might even be used to start editing the genomes of human embryos to create designer babies, Gattaca-style.
Between dirt cheap gene sequencing and CRISPR tech, we’re now seeing DNA reading and editing tools being applied to solve a wide range of healthcare challenges. But neither innovation will bring about the promise of predictive and precision medicine without the addition of a third groundbreaking innovation.
Quantum computing decrypts the genome
Earlier, we mentioned the enormous and rapid drop in the costs involved with genome sequencing. From $100 million in 2001 to $1,000 in 2015, that’s a 1,000 percent drop in cost, roughly a 5X drop in cost per year. In comparison, the cost of computing is dropping by 2X per year thanks to Moore’s Law. That difference is the problem.
Gene sequencing is dropping in cost faster than the computer industry can keep up, as seen by the graph below (from Business Insider):
This discrepancy is leading to a mountain of genetic data being collected, but without an equal mountain of computing power to analyze that big data. An example of how this can pose a problem is in the developing genomics sub-field focusing on the microbiome.
Inside all of us lies a complex ecosystem of more than 1,000 diverse types of bacteria (including viruses, fungi, and other microorganisms) that collectively represent over three million genes, dwarfing the human genome with its 23,000 genes. These bacteria make up about one to three pounds of your body weight and can be found throughout your body, particularly in your gut.
What makes this bacterial ecosystem important is that hundreds of studies are tying your microbiome health to your overall health. In fact, abnormalities in your microbiome have been linked to complications with digestion, asthma, arthritis, obesity, food allergies, even neurological disorders like depression and autism.
The latest research indicates that prolonged exposure to antibiotics (especially at an early age) can permanently damage the healthy functioning of your microbiome by killing off key, healthy gut bacteria that keep the bad bacteria in check. This damage could potentially contribute to the abovementioned illnesses.
That’s why scientists need to sequence the microbiome’s three million genes, understand exactly how each gene affects the body, then use CRISPR tools to create customized bacteria that can return a patient's microbiome to a healthy state—possibly healing other diseases in the process.
(Think of it as eating one of those hipster, probiotic yogurts that claim to restore your gut health, but in this case actually does.)
And here is where we come back to the bottleneck. Scientists now have the technology needed to sequence these genes and edit them, but without the computing horsepower to process these gene sequences, we’ll never understand what they do and how to edit them.
Luckily for the field, a new breakthrough in computing power is about to enter the mainstream by the mid-2020s: quantum computers. Mentioned in our Future of Computers series, and described briefly (and well) in the video below, a working quantum computer could one-day process complex genomic data in seconds, compared to years using today’s top supercomputers.
This next level processing power (combined with the modest amount of artificial intelligence now available) is the missing leg needed to prop up predictive and precision medicine into the mainstream.
The promise of precision healthcare
Precision healthcare (formerly called personalized healthcare) is a discipline that aims to replace today’s “one size fits all” approach with effective medical advice and treatment that’s tailored to a patient’s genetic, environmental, and lifestyle factors.
Once mainstreamed by the late 2020s, you could one day visit a clinic or hospital, tell the doctor your symptoms, give up a drop of blood (maybe even a stool sample), then after a half hour of waiting, the doctor would come back with a full analysis of your genome, microbiome, and blood analysis. Using this data, the doctor would diagnose the exact disease (cause) of your symptoms, explain what about your body's genetics made you susceptible to this disease, and then give you a computer-generated prescription for a drug that's custom designed to cure your disease in a manner that compliments your body's unique immune system.
Overall, through a full sequencing of your genome, coupled with an analysis of how your genes dictate your health, your doctor will one day prescribe safer, more powerful medicines and vaccines, at more accurate dosages for your unique physiology. This level of customization has even spawned a new field of study—pharmacogenomics—that’s concerned with ways to compensate for genetic differences in patients which cause varied responses to a single drug.
Curing you before you get sick
During that same hypothetical visit to your future doctor, and using the same analysis of your genome, microbiome, and blood work, it would also be possible for the doctor to go above-and-beyond by recommending custom designed vaccinations and lifestyle suggestions with the goal of preventing you from one day experiencing certain diseases, cancers, and neurological disorders that your genetics predisposes you to.
This analysis can even be done at birth, thereby empowering your pediatrician to take a more proactive role in your health that could pay dividends well into your adulthood. And in the long run, it may very well come to pass that future generations may experience a largely disease-free life. Meanwhile, in the near term, predicting illnesses and preventing potential deaths could help save up to $20 billion annually in healthcare costs (US system).
The innovations and trends described in this chapter detail a transition away from our current system of “sick care” to a more holistic framework of “health maintenance.” This is a framework that emphasizes eliminating diseases and preventing them from occurring altogether.
And yet, this isn’t the end of our Future of Health series. Sure, predictive and precision medicine may help you when you get sick, but what happens when you get injured? More on that in our next chapter.
Future of health series
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