Big data helps unlock rare disease's secret, but cost could remain issue

Seth Mnookin has received a lot of attention, and justly so, for his article in this week's New Yorker on rare genetic diseases. The piece is an illustration of effects, some good, some not so good, that digital health might have on healthcare.

The article features a young boy, Bertrand Might, and a mutation in the NGLY1 gene. Discovering that NGLY1 was the faulty gene required gene sequencing plus data analysis comparing Bertrand's genome to others' to discover this was the likely problem.

But the data analysis only generated a hypothesis—it was a possibility, at first, that Bertrand might be the only person in the world with this particular mutation. To confirm it, researchers needed to find more people with similar symptoms.

That's where Bertrand's father stepped in—he used a blog post, which went viral, to uncover people with similar problems. After a sufficient number of people were found, researchers were able to confirm that NGLY1 was the gene causing the problem.

As Mnookin tells it, it's a great story; but it's also a case study for many different digital health possibilities. Start with the technology that enabled the search.

We know that the cost of per genome sequencing is falling rapidly, and boosters think it could reach $1,000 per genome quite soon.

As costs continue to fall, genome sequencing may become more routine, especially if insurance companies begin to reimburse.

That leads to a second trend. “Big data” is among the buzziest of buzz terms, and is basically what came into play here: Researchers were able to use large stores of information to find precisely what went wrong.

The third is how Bertrand's father found other people whose children suffered from that condition. “As recently as a decade ago,” Mnookin writes, “researchers could spend years trying to find a second case of a newly discovered disease.”

While viral blog posts might not be the most common method, we know that digitizing data allows for easier comparison, data-sharing and communication—which means that we should be able to find trends more easily if digital health progresses.

The final trend is more ambiguous. Digital innovators are quick to claim that their technology will support the triple aim—better care, at lower cost, while improving patient experience. There's no question that digital technology hit on two of the three aims here. Bertrand's parents are giving more-effective palliative care to Bertrand, and it's of higher quality than it would otherwise have been.

What it probably isn't is lower cost. Not all effective digital technologies will lower the cost of healthcare. Given our still-present worries about healthcare costs, that means the stewards of the healthcare system must be thoughtful about new technologies, whether they're digital or analog, looking at cost as well as benefit.

Follow Darius Tahir on Twitter: @dariustahir