Physicians, insurance companies, Big Data, parents, patients, and hospitals are all standing at an open door, waiting to enter into a room wrought with doubt. Genetic information has already given them the answers to questions about some of life’s most mysterious symptoms and diagnoses, but foretelling how the data will affect the future of medicine while protecting patient information still remains uncertain.

It has been 12 years since the human genome was first sequenced. Since then, the price of mapping out an individual patient’s genetic code has dropped from $2.7 billion to just a little over $1,000. And that price will drop even further, to the point where being sequenced will be as much of a commitment as an electric toothbrush. For the first time, it’s within financial reach of an average patient.

“Because it’s becoming cheaper, and may be only a few hundred dollars in the not-so-far future, it means everyone will be capable of getting their genome sequenced,” said Dr. Michael Snyder, the director of Stanford University’s Center for Genomics and Personalized Medicine. “It won’t be a matter of ‘Can I get my genome sequenced?’ but when you want to get it sequenced and how you want to incorporate that information into your health care.”

Understanding The Iceberg

“I think we’re in an era unlike any other, where the information you can garner about people and give people is way beyond what anyone has ever done before,” Snyder said. “I think genome sequencing quite frankly is the tip of the iceberg. It’s a very, very small part of what’s to come.”

Precision medicine goes beyond just genome sequencing. Doctors will want all of the accessible data for a patient in order to provide the best possible outcome based on their genetics and environmental factors like physical activity levels, which FitBit already conveniently accumulates.

FitBit Tracker Genome sequences in combination with FitBit trackers will allow doctors and researchers to provide the most personalized patient care. Photo courtesy of Flickr, Nicola

A big piece of that will arise with the convergence of genomic information and data collected from mobile devices. The technology used in, for example, FitBits, is on its way to tracking diabetics’ sugar levels and may advance to identify the best time for someone to take their insulin. The analyzed data can then be looped back to their doctor, who will have access to track their levels in real time. Beyond clinical use, it has the potential to empower patients with as much information about their body as their doctor will have.

Because your health isn’t solely based on your genes alone, doctors and researchers will eventually demand more than just genomic information and turn to environmental factors to achieve the full picture. When the day comes that individuals have their dietary behaviors, physical activity levels, and other non-genetic influences, in addition to their genomic sequence logged into their medical records, only then will doctors be able to make the most informed diagnosis and treatment possible.

“[Your health state] is a combination of your DNA — your genome — and also many other inputs as well: the food you eat, the pathogens you may be exposed to, various life stressors, exercise, all contribute to your health state,” Snyder said. “ I would argue that the goal is to try and understand this in probabilistic terms.  I’m a believer of the future, I believe we’ll have our genome sequenced before birth. With your genome, you’ll be able to predict what health outcomes you might have in probabilistic terms and not definitive terms.”

Granting access to as much information as imaginable to administer medical care may sound appealing, but it will not come without the price of complexity. On one side of the coin, accessing genetic information at birth will provide early insight into a child’s future, and on the other side it will reveal prevalence rates and risk factors for conditions that may not be an issue to worry about 50 years down the line. It becomes a matter of weighing the consequences against the possibilities information could accommodate for doctors, such as achieving the grandeur goal of improving accuracy from diagnosis to treatment.

Today, many un-sequenced people are taking drugs that are doing nothing more than causing unnecessary side effects. It’s basically trial-and-error. In the big picture, millions of dollars and years of research are wasted on developing drugs doomed to failure, and prescribing drugs that, though they may have proven effective in trials, end up not working on individual patients. By identifying the most effective drug treatment approach based on a person’s genomic sequence, both the patient and public health care system can avoid needless spending and ultimately save money.

Collecting large quantities of genomic information and using it to diagnose patients will take time, and medical centers across the state are racing to prepare for it. Photo courtesy of Getty Images, Boston Globe

The Cost of Solving a Diagnostic Odyssey

Snyder recalls one of the successful cases the Center for Genomics and Personalized Medicine took on in 2014, when they met a child with mysterious non-specific symptoms, including developmental delay, intellectual disability, and the inability to produce tears. The child’s parents traveled to hundreds of facilities throughout the world searching for answers. The research team at Stanford sequenced the mother, father, and child and began to scour for clues within the tens of thousands of possible mutation drivers within their genomes.

They came up with eight possible causes for the mutation, ranked in order of likelihood. At the bottom of that list was a gene called NGLY1, which helps cells break down and recycle defective proteins. Meanwhile, another research team at Duke University sequenced a child who had similar mystery symptoms. Both children were unable to make tears and more importantly, had a defect in their NGLY1 gene.

Because researchers were able to compare their genome sequences after identifying how their genes and environment interact, they could make a disease match. They’ve since diagnosed 26 children with the NGLY1 gene defect. Had the researchers had access to a common database, Snyder believes the diagnosis would have come earlier.

Each year another 0.4 percent of all live births are born with a serious health defect that doctors can’t figure out. Only a fraction — roughly five percent — of those kids are solved, and even fewer diagnostic odysseys result in a diagnosis that leads to an actual treatment.

However, even if the child is untreatable, the sequencing of these genomes can still be helpful to the medical community — and to patients in the future. For example, though it is a possibility fraught with controversy, it is possible that future parents can turn to in vitro fertilization (IVF) treatments, selecting embryos without the specific mutations now known to cause the mysterious disease in the first place.

Eight percent of U.S. adults — roughly 25 million — have a genetic disorder that unearths itself later in life. After calculating the cost of treatment, it comes out to be $5 million per individual per lifetime, but if a genetic mutation is caught early it could drastically change the outcome of treatment, medical costs, or even prevention of disease altogether.