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Diagnostics could be one of the smartest places for a startup to be right now in healthcare

Diagnostics could soon become a whole lot better, and people are investing in it. Heavily.

California-based RNA sequencing company, Cofactor Genomics, is a good example of why it might be the right decision for a company to steer away from big pharma and maybe focus more on consumer diagnostics. Theranos is another company taking full advantage of this angle now.

In a Wired profile, both were featured to highlight how these types of companies are booming right now. Theranos, worth $9 billion, for example, is trying to battle major names in diagnostics like Quest Diagnostics and Laboratory Corporation of America by making blood testing a lot more convenient.

Theranos has convinced its funders that convenience is the future of diagnostics, raising $400 million from the likes of Larry Ellison and Don Lucas Sr. But there are other less traditional—and potentially more effective—ways to diagnose disease.

When it comes to diagnostics, DNA isn’t always a good indicator of disease. RNA is much more telling, which is why Cofactor, which recently got a $1.5 million grant from the National Institues of Health, has honed in on this end.

“When most people think about genetic diagnostics testing, they think about DNA,” Cofactor CEO Jarret Glasscock, who previously worked as a computational biologist on the Human Genome Project, told Wired. But DNA only gives estimates of risk. “If you get a DNA test, the doctor will be able to tell you that instead of a 7 percent chance of cancer, you have a 14 percent chance,” he said. “Also, you have 12 percent chance of male pattern baldness, and you’re 4 percent Neanderthal—and you’re like, ‘No shit, Sherlock! But what’s happening with my tumor?’”

There needs to be a balance between looking at protein in the blood and DNA in order to make diagnostics more accurate. “This idea of RNA diagnostics sits right in the middle,” said Glasscock. And what’s called circular RNA is the real kicker.

“We see RNA as the future of personalized medicine,” said Dave Messina computational biologist and Cofactor chief operations officer, “and it will be a multi-billion dollar market.”

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A Deep-dive Into Specialty Pharma

A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.

There’s a lot of promise in the world of diagnostics, not just in the form of profits for companies like Cofactor and Theranos, but a major shift in how people can address their health. It’s just going to take some time.

For now, Cofactor’s goal is to roll its RNA tests out much like traditional blood diagnostics: You go to your doctor, a phlebotomist draws your blood, she mails the blood to Cofactor, they email the results to your doc, she calls you to say, yay! No cancer!

Messina says eventually they’d like to transition to patient-directed tests (and possibly even saliva testing, which other RNA experts confirmed is both very possible and very awesome), akin to Theranos’ model. But like everything in the federally regulated biotech world, this is going to take years.

And money.

Photo: Flickr user rosemary