NOVA - Official Website Cracking Your Genetic Code. CRACKING YOUR GENETIC CODEPBS Airdate: March 2. NARRATOR: This is no ordinary flash drive. From a small company called Knome, it contains a complete digital record of a person's genetic code, all six billion letters of it. NATHANIEL PEARSON (Knome, Inc.): Your D. N. A. is what makes you unique. It governed how you grew in the womb and how you look today.

And, until now, only a few hundred people in the world have had a chance to see their whole genome and try to understand it. NARRATOR: Few could afford the cost: $3.

FRANCIS COLLINS (National Institutes of Health): It's almost amazing to be able to say that each of us will have the chance to have our complete genome sequenced, for less than $1,0. NARRATOR: The result could be a revolution in medicine: using genetic information to diagnose and cure disease. JOE BEERY (Noah and Alexis Beery's Father): If you go back and you look at some of the home movies that we took, and you see Alexis falling down, and you look at her now, you think, it's unimaginable that she was actually that same child. I really do believe that whole- genome sequencing really, really saved Alexis' life. NARRATOR: But it could also lead to wholesale invasions of privacy and an ethical quagmire.

People seem to come in all shapes and sizes. Do any other animals display the same amount of variation in size as humans among healthy adults?

JAY ADELSON (2. 3and. Me Client): There's a lot of fear about, say, insurance companies or other professionals being able to access that data. RUDOLPH TANZI (Massachusetts General Hospital): And then the company geneticist says, "He has an increased risk for cancer, okay?

Just don't interview him; he'll never know." Do you want that? Because that is potential reality. NARRATOR: Thousands of years ago, the Ancient Greeks were given some famous advice: "Know thyself." Today, when those words are a biotech company motto, they present a new kind of challenge. Just how well do you want to know yourself in the age of personal genomics? Up next on NOVA: Cracking Your Genetic Code. A few years from now, you may boot up your tablet to find a life- changing report: a report on your own, personal genetic code, on the thousands of genes that spell out your body's instructions.

Deciphered, your genes will reveal your risks for one disease after another, those you may get yourself and may pass on to your children. How will it feel to have this information? You may find out sooner than you think. GREGORY STOCK (Author, Biophysicist): We're entering an era of unprecedented self- knowledge.

We are really beginning to come to understand the living processes that constitute ourselves, where we can begin to intervene to take control of our own future. FRANCIS COLLINS: Genomics offers us the chance to look, in the most precise way, at what the causes of illness are and how to prevent and treat illnesses with that information. Watch Burn After Reading Online Earnthenecklace. And we have that opportunity, now, in front of us. NARRATOR: This could be your future: a new kind of personalized medicine based on your genetic code, one that predicts risks, so you can stop diseases before they appear, if there's a way of stopping them. RUDI TANZI: But what if you can't? What if you have a gene mutation that says, doesn't matter how you live your life, doesn't matter what drugs you take, you will get this disease and probably before 5. CATHERINE ELTON (Journalist): Not everybody can handle genetic testing.

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And this information affects the way you live the rest of your life, if you are going to get a disease. NARRATOR: But while some sound notes of caution, the science is rushing ahead and is now taking on medical challenges once thought impossible. Consider Andrew Schmitz, a bubbly five- year- old, who has no idea his life hangs in the balance. PAULA SCHMITZ (Mother of Andrew Schmitz): It started with high fevers and joint pains. And then, July he had his first stroke.

And then he had two in October and one in November that required brain surgery. And then, his last one, number five, was a week ago.

NARRATOR: Andrew is at the center of a medical mystery. His parents have consulted dozens of specialists, but so far his symptoms defy diagnosis. He gets steroids to calm his immune system and has been on and off chemotherapy. Nothing seems to work. At Children's Hospital, in Milwaukee, Andrew's pediatrician, Dr. Sheetal Vora, assesses his condition and the toll being taken by the drugs used to treat him.

SHEETAL VORA (Children's Hospital of Wisconsin): It pains you, because I have been there with this family from the beginning, and I have seen the ups and downs and told them the brutal truth, that you use all these medications, but they also can have their side effects. NARRATOR: Desperate for a diagnosis, Dr. Vora has brought in geneticist Howard Jacob. HOWARD JACOB (Medical College of Wisconsin): Right now, we don't know what is the cause of his disease. It's possible that it's environmental, or it's possible that he had some type of an infection. Series 40 Apps Download Here Alessia.

In general, though, somebody else should have it. Why doesn't anybody else have it in the family? What about in the community? So, a more plausible explanation is that it's genetic.

So if it happens to fall within a gene…NARRATOR: If Jacob is right, there's a chance that Andrew's condition could finally be diagnosed, opening up the possibility of a cure. HOWARD JACOB: So we will do everything we can to comb through his genome and see what we can find.

NARRATOR: To fulfill this promise, Jacob will be putting Andrew in a select group, those who have had their genomes, that is, all the genetic material contained within their cells, read out, letter by chemical letter, six billion, in all. To start the process, a nurse draws Andrew's blood. The next day, it arrives at Illumina, one of a handful of companies that reads, or sequences, genomes. In the lab, the blood is processed to extract its genetic material. As proteins and fats are washed away, delicate fibers clump together. This is D. N. A., life's master molecule. Next, the D. N. A.

It is such a complex task that sequencing the first human genome took 1. When the first draft was finished, in 2. ERIC LANDER (Broad Institute of M. I. T. and Harvard): This is all the instructions there are, telling you all the tricks cells use to actually go from being a single cell to a whole grown up individual. All those recipes are written in exactly the same language. NARRATOR: A language whose alphabet consists of four chemicals: each known by its initial: A, T, C and G.

Strings of these chemical letters spell out some 2. Genes code for proteins, molecules that do most of the work in our cells and help build parts of our body, from muscles to hair.

And, in the world of genes and proteins, spelling counts. If D. N. A. is copied incorrectly or damaged, spelling errors, known as variants or mutations, crop up. NATHANIEL PEARSON: Now, when you change the spelling of a gene, sometimes it drastically changes the way that a protein functions, and those are the kinds of changes in the genome that we really look to when we are trying to trace disease, when we are trying figure out what spelling variant in the genome explains, for example, why this child is sick. NARRATOR: And that's what Howard Jacob will search for. Convinced that a misspelled gene underlies Andrew's condition, he will comb through the boy's genome to find it.

But even if he does, it's still a gamble. HOWARD JACOB: The chances are pretty high that we're going to find something that there's nothing we can do about it.