“A genetics website encouraging people to send in swabs of their saliva began operating lately in a closely watched Silicon Valley venture with links to the search firm Google…”
Los Angeles — 23andMe — named after the 23 pairs of chromosomes in the human body, is a Google-funded online company selling a $999 DNA test, launched on Monday, offering Web users an opportunity to take a saliva-based DNA test to learn more about their genes and family heritage, as well as participate in genetic research.
The exploration of the human genome has long been relegated to elite scientists in research laboratories. But that is about to change. An infant industry is capitalizing on the plunging cost of genetic testing technology to offer any individual unprecedented – and unmediated – entree to their personal DNA.
It claims to offer the first “personal genome service” for $999 (£488) a customer. Using hi-tech analysis software, the company says it can read up to half a million points in an individual’s genome. The service is intended to help people understand their inherited traits and to allow them to compare themselves with friends and family.
“Over the past several years, significant advances have been made in the field of genetics,” said 23andMe co-founder Linda Avey, in a statement. “The mission of 23andMe is to take the genetic revolution to a new level by offering a secure, web-based service where individuals can explore, share, and better understand their own genetic information.”
Anne Wojcicki, one of the co-founders, said: “We believe this information provides intriguing insights into an individual’s genetics, with the goal of expanding the collective knowledge base by enabling active participation in research.”
For as little as $999 and a saliva sample, customers will be able to learn what is known so far about how the billions of bits in their biological code shape who they are.
“Three companies have already announced plans to market such services, one on Friday.”
Decode Genetics, which is based in Iceland, on Friday launched “deCODEme,” which will assess a person’s genome for disease risk, bodily traits like hair and eye color, and ancestral origins. Subscribers have to send in a scraping of cells from inside the cheek and a check for $985.
Although personal DNA testing has been available for several years, it has focused on a few genes. DeCode, in contrast, tests more than 1m genetic variants. But the Icelandic company, which has a strong record of discovering disease-causing genes, will not have the field of large-scale genetic testing to itself.
“People who buy the service will have the opportunity to look at their genome and compare it to the genomes of those who in the past have been shown to be at particular risk of certain diseases,” said Kari Stefansson, chief executive of DeCode Genetics.
“It will also give people an opportunity to put their genome in context of what we know about the genetics of population history,” he added. “So people will be able to figure out where their ancestors came from.”
“Compare your genetic blueprint to your friends and family,” the site invites.
For $999, 23andMe will send individuals a saliva kit with a bar-coded tube for a saliva sample. Customers mail the samples a lab on contract with 23andMe; the lab extracts the DNA, which is then exposed to a microchip-like genetic analysis tool made by Illumina. Although the analysis does not produce a complete point-by-point representation of an individual’s unique genetic map, the analysis does call out more than half a million points on the customer’s genome, including a proprietary set defined by 23andMe.
Once the analysis is complete, users will be able to securely log in to 23andMe’s site and explore their profile and ancestry using unique Web-based tools. Users can compare themselves to friends and family members and research what their genetic makeup may mean for them.
Down the line, when the company’s database is much larger, users will have the option to take part in scientific studies that could help researchers determine such things as who is in danger of having a life-threatening drug reaction or who may be more likely to benefit from a specific cancer treatment.
DeCODE Genetics and 23andMe will offer referrals. Although what they can tell you is limited right now, all three companies are hoping that people will be drawn by the prospect of instant updates on what is expected to be a flood of new findings.
A third company that plans to market personal DNA information, “Navigenics,” of Redwood Shores, Calif., is expected to focus on disease genes and intends to provide a phone consultation with a genetic counselor along with the results. Its service would cost $2,500 and would initially provide data on 20 health conditions.
Unlike the present genetic testing and genetic genealogy companies, which look at a few specific genes, the three new services will sample the whole human genome.
Critics have voiced concern, fearing that it would overemphasize the role of genes in common diseases. “Bad diet, smoking, poverty and pollution are all factors that are probably much more important,” GeneWatch UK director Helen Wallace told bbc.com.
“So there is a real danger that people taking these tests will be misled about their health.” Dr Wallace explained, “We are not so concerned about people having information. “We are concerned about them having misinformation.”
Craig Venter, the DNA sequencing pioneer who has analyzed his whole genome in great detail, said he had found little useful information about his own health.
But Stefansson said the company felt it had a duty to make the service available to people who wanted to use it. “We have participated in communicating those results through scientific papers and the (media). So we feel that we have a certain obligation to help the public to put it into context.”
Many people may welcome the rich new trove of data about their hereditary makeup and ancestry. But genetic counselors are concerned that some people may find the information hard to handle, given that much of the current genetic knowledge is related to the risk of developing common and often untreatable diseases.
The new services will use devices known as SNP chips, which offer a cheap substitute for decoding the 3 billion units of the human genome, a task that would probably cost $1 million or so per person at present.
The chips are programmed to determine the DNA unit at sites along the genome that are known to vary from person to person. The chips thus capture the major points of difference in an individual’s DNA while ignoring the many sites at which all people have the same DNA units.
Services like 23andMe raise a host of privacy concerns — if an individual’s genetic profile were, say, to indicate a predisposition towards certain medical conditions, employers, insurance companies, or other organizations might treat an individual differently based on that information.
23andMe says it collects phenotypic information (about diseases, traits, and medical conditions) only if customers agree to participate in 23andM3-authorized research studies.
While the project’s end goal is to tackle dreaded diseases — it is in early stages on projects with Autism Speaks and the Parkinson’s Institute — Avey said one of the company’s primary aims is make the complex subject more appealing by giving individuals the lowdown on their own genes.
It has an “odds calculator” to predict which ailments are more likely to strike customers, although it stresses that this is “neither a medical diagnostic nor a substitute for medical advice.”
Wojcicki is married to Sergey Brin, Google’s billionaire co-founder. Her firm, which was founded last year, received $3.9m of investment from Google — a transaction vetted and approved by the search firm’s independent directors.