Show Them What You’re Made Of:Personal Genomes Services

Tom Terranova takes a look at the innovative and affordable personal genome services being offered by 23andMe.

If you could chart your ancestry all the way back to the first humans in Africa and learn about your odds of developing over 80 different medical conditions, would you want to? Anne Wojcicki and Linda Avey, cofounders of 23andMe, are banking that you’ll say yes. 23andMe, one of several new start-ups that are now providing personal genome services, offers its clients a chance to gain hundreds of insights into their genetic traits and predispositions.

After placing an order online and receiving your sample collection kit in the mail, you simply provide a saliva sample and send it back to 23andMe. LabCorp (the lab contracted by 23andMe to perform the scan) then begins a high-density genome scan using a standard research 550 chip from Illumina Sequencing.

Although the lion’s share of the three billion-letter code that makes up our DNA is common among all humans, there are approximately 10 million places in our genome where we may differ. These single-letter variations are called single nucleotide polymorphisms, or SNPs, and it’s these SNPs that form the basis of the genotyping provided by 23andMe. After your DNA is extracted from the saliva sample, it is duplicated and then chopped up before being washed over the surface of the Illumina bead chip inside a Genome analyzer. The BeadChip is a glass slide that contains millions of tiny beads, each equipped with a tiny probe. The probes are bits of DNA complimentary to the SNPs being studied. Your DNA attaches itself to any of the probes that represent SNPs you possess. Once complete, the triggered probes are made to glow. At this point, the results are ready to be fed into a computer and analyzed against our current understanding of the human genome. Illumina’s chip looks at a staggering 550,000 SNPs scattered across the 23 pairs of chromosomes that constitute the human genome. On top of that, 23andMe adds their own custom content consisting of about 50,000 SNPs.

What exactly can you learn about yourself from a genome scan? At the moment, you can learn about your genetic predisposition to more than 80 diseases, health-related conditions and traits including various forms of cancer, diabetes, resistance to HIV, rheumatoid arthritis, good memory, IQ, obesity, heroin addicition, and schizophrenia — just to name a few. You can also learn more about your ancestry and your relationships to other family members. This is just the beginning, however. Besides providing genome scans to the general public, they ultimately plan to amass a significant database of DNA samples (from those who opt in) that can be studied in order to reveal more about the human genome. If you want to, you can share your genetic profile online with other clients (or just your family) using the social networking tools provided by 23andMe. In addition, 23andMe stays constantly abreast of the latest studies about new genome research and adds new traits to their database as they are validated by the scientific community. If you read that a new gene has been identified, you can probably log in at 23andMe to check for it in your own profile.

Much of the reaction to these new services has been one of hesitancy. Many people see their genetic information as a kind of Pandora’s Box that they dare not open. In reality, our DNA does not dictate our destiny. It is just one important factor that plays a part in determining our futures. Knowing your potential weaknesses is actually like having the ultimate cheat sheet, allowing you to modify your lifestyle and habits in ways that can help to mitigate any potential problems. Another common fear people have is that their insurance companies will obtain their DNA information and deny them coverage. 23andMe is committed to data security — and until testing can be done almost instantly and costs only a few dollars, we probably won’t need to worry about our insurance companies spying on our genes. Additionally, the Genetic Information Nondiscrimination Act, or GINA, protects us from just such a scenario. It was passed into law by the president on May 21, 2008 and prevents health and insurance companies from looking at our predictive genetic information before enrollment, requiring or even requesting a genetic test, restricting enrollment based on genetic information, or changing premiums based on genetic information. It also prevents employers from discriminating based on genetic information, asking for or requiring genetic tests, or disclosing any genetic information they may already possess (except under specially controlled circumstances.) Thankfully, it looks as though the world envisioned in the film Gattaca will never become a reality anytime soon.

The amount of information generated by 23andMe’s genotyping service is immense. Once it’s made available online, clients have access to a full suite of tools that can help them to learn more about themselves. At $999 (and seldom covered by insurance) a genome scan is not cheap, but the information you obtain could be priceless. You can also opt to participate in surveys from 23andMe, putting you at the forefront of genetic research and allowing you to play a part in future discoveries.

There are a number of companies now offering different kinds of DNA analysis services online, but many of them provide only very limited scans for ancestry or paternity. One of the major complaints from users of these services has been that many companies don’t present the data to them in a meaningful fashion. In contrast, the custom BeadChip used by 23andMe allows them to provide you with information that you can’t get anywhere else — and their services have been designed from the ground up to make your genetic information easy to understand and useful.

23andMe is advised by a group of renowned experts in the field and has also received funding from prominent technology and health science companies such as Genentech and Google. And speaking of Google — if you like their company motto of “Do no evil”, you’ll be happy to know that Google cofounder Sergy Brin just happens to be the lucky husband of 23andMe cofounder Anne Wojcicki.

If you’re not quite ready to take the plunge with a detailed analysis, you can always get your feet wet with some DNA art from DNA 11. After you send in a saliva sample, they will make a custom portrait from a snippet of your genome that highlights such traits as your ability to metabolize alcohol. The portraits come in various sizes and color schemes and can also be customized. Like most things in this relatively new field of consumer genetics, DNA art doesn’t come cheap. But then, when has cutting edge style ever come without a cost? And besides, it’s a chance to finally show your friends what you’re made of — literally.

For a complete list of the information that can currently be learned from your DNA, visit the 23andMe website. The site also provides a series of short online tutorials about genetics and additional information about their services.