The era of personal DNA testing is here




Imagine that you're a pig farmer. You live on a small farm in the Philippines. Your animals are your family's sole source of income — as long as they're healthy. You know that any day, one of your pigs can catch the flu, the swine flu. Living in tight quarters, one pig coughing and sneezing may soon lead to the next pig coughing and sneezing, until an outbreak of swine flu has taken over your farm. If it's a bad enough virus, the health of your herd may be gone in the blink of an eye. If you called in a veterinarian, he or she would visit your farm and take samples from your pigs' noses and mouths. But then they would have to drive back into the city to test those samples in their central lab. Two weeks later, you'd hear back the results. Two weeks may be just enough time for infection to spread and take away your way of life.

But it doesn't have to be that way. Today, farmers can take those samples themselves. They can jump right into the pen and swab their pigs' noses and mouths with a little filter paper, place that little filter paper in a tiny tube, and mix it with some chemicals that will extract genetic material from their pigs' noses and mouths. And without leaving their farms, they take a drop of that genetic material and put it into a little analyzer smaller than a shoebox, program it to detect DNA or RNA from the swine flu virus,and within one hour get back the results, visualize the results. This reality is possible because today we're living in the era of personal DNA technology. Every one of us can actually test DNA ourselves.

DNA is the fundamental molecule the carries genetic instructions that help build the living world. Humans have DNA. Pigs have DNA. Even bacteria and some viruses have DNA too. The genetic instructions encoded in DNA inform how our bodies develop, grow, function. And in many cases, that same information can trigger disease. Your genetic information is strung into a long and twisted molecule, the DNA double helix, that has over three billion letters, beginning to end. But the lines that carry meaningful information are usually very short — a few dozen to several thousand letters long. So when we're looking to answer a question based on DNA, we actually don't need to read all those three billion letters, typically. That would be like getting hungry at night and having to flip through the whole phone book from cover to cover, pausing at every line, just to find the nearest pizza joint.

Luckily, three decades ago, humans started to invent tools that can find any specific line of genetic information. These DNA machines are wonderful. They can find any line in DNA. But once they find it, that DNA is still tiny, and surrounded by so much other DNA, that what these machines then do is copy the target gene, and one copy piles on top of another, millions and millions and millions of copies, until that gene stands out against the rest; until we can visualize it, interpret it, read it, understand it, until we can answer: Does my pig have the flu? Or other questions buried in our own DNA: Am I at risk of cancer? Am I of Irish descent? Is that child my son?

This ability to make copies of DNA, as simple as it sounds, has transformed our world. Scientists use it every day to detect and address disease, to create innovative medicines, to modify foods, to assess whether our food is safe to eat or whether it's contaminated with deadly bacteria. Even judges use the output of these machines in court to decide whether someone is innocent or guilty based on DNA evidence. The inventor of this DNA-copying technique was awarded the Nobel Prize in Chemistry in 1993. But for 30 years, the power of genetic analysis has been confined to the ivory tower, or bigwig PhD scientist work. Well, several companies around the world are working on making this same technology accessible to everyday people like the pig farmer, like you.

I cofounded one of these companies. Three years ago, together with a fellow biologist and friend of mine,Zeke Alvarez Saavedra, we decided to make personal DNA machines that anyone could use. Our goal was to bring DNA science to more people in new places. We started working in our basements. We had a simple question: What could the world look like if everyone could analyze DNA? We were curious, as curious as you would have been if I had shown you this picture in 1980.

You would have thought, "Wow! I can now call my Aunt Glenda from the car and wish her a happy birthday. I can call anyone, anytime. This is the future!" Little did you know, you would tap on that phone to make dinner reservations for you and Aunt Glenda to celebrate together. With another tap, you'd be ordering her gift. And yet one more tap, and you'd be "liking" Auntie Glenda on Facebook. And all of this, while sitting on the toilet.

It is notoriously hard to predict where new technology might take us. And the same is true for personal DNA technology today.

For example, I could never have imagined that a truffle farmer, of all people, would use personal DNA machines. Dr. Paul Thomas grows truffles for a living. We see him pictured here, holding the first UK-cultivated truffle in his hands, on one of his farms. Truffles are this delicacy that stems from a fungus growing on the roots of living trees. And it's a rare fungus. Some species may fetch 3,000, 7,000, or more dollars per kilogram. I learned from Paul that the stakes for a truffle farmer can be really high. When he sources new truffles to grow on his farms, he's exposed to the threat of knockoffs — truffles that look and feel like the real thing, but they're of lower quality. But even to a trained eye like Paul's, even when looked at under a microscope, these truffles can pass for authentic. So in order to grow the highest quality truffles, the ones that chefs all over the world will fight over, Paul has to use DNA analysis. Isn't that mind-blowing? I bet you will never look at that black truffle risotto again without thinking of its genes.

But personal DNA machines can also save human lives. Professor Ian Goodfellow is a virologist at the University of Cambridge. Last year he traveled to Sierra Leone. When the Ebola outbreak broke out in Western Africa, he quickly realized that doctors there lacked the basic tools to detect and combat disease. Results could take up to a week to come back — that's way too long for the patients and the families who are suffering. Ian decided to move his lab into Makeni, Sierra Leone. Here we see Ian Goodfellow moving over 10 tons of equipment into a pop-up tent that he would equip to detect and diagnose the virus and sequence it within 24 hours. But here's a surprise: the same equipment that Ian could use at his lab in the UK to sequence and diagnose Ebola, just wouldn't work under these conditions. We're talking 35 Celsius heat and over 90 percent humidity here. But instead, Ian could use personal DNA machines small enough to be placed in front of the air-conditioning unit to keep sequencing the virus and keep saving lives.

This may seem like an extreme place for DNA analysis, but let's move on to an even more extreme environment: outer space. Let's talk about DNA analysis in space. When astronauts live aboard the International Space Station, they're orbiting the planet 250 miles high. They're traveling at 17,000 miles per hour. Picture that — you're seeing 15 sunsets and sunrises every day. You're also living in microgravity, floating. And under these conditions, our bodies can do funky things. One of these things is that our immune systems get suppressed, making astronauts more prone to infection.

A 16-year-old girl, a high school student from New York, Anna-Sophia Boguraev, wondered whether changes to the DNA of astronauts could be related to this immune suppression, and through a science competition called "Genes In Space," Anna-Sophia designed an experiment to test this hypothesis using a personal DNA machine aboard the International Space Station. Here we see Anna-Sophia on April 8, 2016, in Cape Canaveral, watching her experiment launch to the International Space Station. That cloud of smoke is the rocket that brought Anna-Sophia's experiment to the International Space Station, where, three days later, astronaut Tim Peake carried out her experiment — in microgravity. Personal DNA machines are now aboard the International Space Station, where they can help monitor living conditionsand protect the lives of astronauts.

A 16-year-old designing a DNA experiment to protect the lives of astronauts may seem like a rarity, the mark of a child genius. Well, to me, it signals something bigger: that DNA technology is finally within the reach of every one of you.

A few years ago, a college student armed with a personal computer could code an app, an app that is now a social network with more than one billion users. Could we be moving into a world of one personal DNA machine in every home?

I know families who are already living in this reality. The Daniels family, for example, set up a DNA lab in the basement of their suburban Chicago home. This is not a family made of PhD scientists. This is a family like any other. They just like to spend time together doing fun, creative things. By day, Brian is an executive at a private equity firm. At night and on weekends, he experiments with DNA alongside his kids, ages seven and nine, as a way to explore the living world. Last time I called them, they were checking out homegrown produce from the backyard garden. They were testing tomatoes that they had picked, taking the flesh of their skin, putting it in a test tube, mixing it with chemicals to extract DNA and then using their home DNA copier to test those tomatoes for genetically engineered traits.

For the Daniels family, the personal DNA machine is like the chemistry set for the 21st century. Most of us may not yet be diagnosing genetic conditions in our kitchen sinks or doing at-home paternity testing.

But we've definitely reached a point in history where every one of you could actually get hands-on with DNA in your kitchen. You could copy, paste and analyze DNA and extract meaningful information from it.And it's at times like this that profound transformation is bound to happen; moments when a transformative, powerful technology that was before limited to a select few in the ivory tower, finally becomes within the reach of every one of us, from farmers to schoolchildren. Think about the moment when phones stopped being plugged into the wall by cords, or when computers left the mainframe and entered your home or your office.

The ripples of the personal DNA revolution may be hard to predict, but one thing is certain: revolutions don't go backwards, and DNA technology is already spreading faster than our imagination.

So if you're curious, get up close and personal with DNA — today. It is in our DNA to be curious.

 

 

English Russian
Swine flu Свиной грипп
Cough Кашлять
Sneez Чихать
Outbreak Эпидемия
Samples Образцы
Swab Собрать мазок
Filter paper Фильтровальная бумага
Chemicals Химикаты
Extract genetic material Собрать генетические материалы
DNA ДНК
RNA РНК
Visualize Визуализировать, представить в виде
Genetic instructions Генетический код
Encode Кодировать
DNA double helix Двойная спираль
Address disease Выявить болезнь
Genetic analysis Генетический анализ
Personal DNA machines Персональная машина для тестирования ДНК
Carried out an experiment Проводить эксперимент
Spread Распространять(ся)

 



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