Knome and Personalized Medicine

On February 2nd, the New York Times ran an article featuring an up-and-coming company, Knome. Knome provides a combined hardware-software platform for interpreting human genetic information. Soooooo... what do they provide? What does this mean for personalized medicine in the 21st century?

Reading DNA

For a moment, hark back to the basics of molecular biology (discussed in a series of posts under "Biotech Roots"). The basic idea is that DNA provides the information to make proteins. Proteins do most of the work in a cell. Your body is made of cells. If the DNA makes the wrong proteins, then your body might not work correctly. The challenge in bioinformatics (the field that deals with biological information) and in medicine is to understand which genes combine to make which proteins, what proteins are supposed to be working in each type of cell (skin, lung, liver ... each tissue type has different kinds of cells), what genetic differences are harmless, and which genetic differences are harmful. These are just a few of the questions, and believe me, they are really hard questions to answer. Imagine being given a powerful new machine with an owner's manual that was 67 million pages long! Not only that, but it isn't printed on a normal media like paper or a PDF (it needs to be sequenced, which I'll get to in a sec.) and once you do manage to read it, it's in a weird language. Then, when you can interpret individual words in the language, the grammar is strange. Then, when you've figured out the grammar, the way the book is organized doesn't make much sense.  You get the idea.

But, scientists have already sequenced the human genome and they're getting better at reading the grammar every day. The better we can read the grammar, then the more opportunities we have to "fix" someone with a broken genetic code.

Knome

So what does Knome offer? They provide a powerful computer with powerful programs on it that can interpret the grammar of the genetic code. Nothing they offer is necessarily new ... it's just a complete package. For example, there already exist powerful computers that are big enough and fast enough to deal with a ton of genetic data. Also, software and information already exist to interpret the genetic information. In fact, many versions of these things already exist. But, all of the existing versions of these things (hardware and software) are made by independent companies, have a steep learning curve in order to use them, and (this is the biggie that Knome stresses): existing software generally exists as a website. In other words, a person's private genetic information is transmitted over the internet for any old hacker to steal.

So, the biggest things that Knome offers are 1) a complete package of computer and software with a more shallow learning curve and 2) Privacy. Both of these things are a great addition to the practical side of things (it certainly takes a step closer to making genetic interpretation practical for your local doctor's office), but don't necessarily advance the science or the medicine.

Is Knome the Future of Personalized Medicine?

Probably not. They don't offer any special interpretation of genetic information that doesn't already exist. The challenges to personalized medicine are still the expense of sequencing and a lack of knowledge about what that sequence means. The cost of sequencing keeps shrinking. In fact, it seems to get cheaper by the day. A neat company called 23andMe already provides clients with interpretation of their genetic information based on a quick genetic screen. As fpr improving interpretation, all that can be done about it is to keep studying and applying what we know as we learn it.

Probably not Knome and the 21st and a Half Century!