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Test Your DNA for Diseases — No Doctor Required

Anne Wojcicki plans to sell whole-genome sequencing directly to consumers, no doctors needed

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Spencer Lowell for TIME

Anne Wojcicki, co-founder of 23andMe, based in Mountain View, Calif., is planning to make whole-genome sequencing available directly to the public

When Anne Wojcicki’s son was a baby, she ran a swab across the inside of his cheek, collecting DNA to send to a lab. Last year, when she was pregnant with her daughter, she tested her amniotic cells. The goal in each case: to get a glimpse of her children’s genes and determine whether they contain certain kinks that increase the risk of developing anything from gallstones to multiple sclerosis. “As a parent,” says Wojcicki, “the most responsible thing I can do is get as much information about my children as possible so I can then think through how I can make them as healthy as possible.”

Wojcicki isn’t just any random parent, though. She’s a Yale-educated biologist and the co-founder and CEO of 23andMe, a company in Mountain View, Calif., that sells DNA analysis directly to consumers — no doctor required (See TIME’s inside look into 23andMe’s genetic testing lab here). “Your information is your information,” says Wojcicki, who is married to Google co-founder Sergey Brin. “If you want it, you should be able to have it.”

The second in a five-part series exploring the promise and pitfalls of sequencing children’s genomes

Genetic tests have been around for years, but in 2003 scientists took the field a step further, announcing the first complete mapping of a human genome — an entire genetic code. Sequencing, or “reading,” a person’s genome is one of the newest, most controversial tools in the medical arsenal because of the mother lode of information it contains about future disease risk. Genetic markers for heart disease or cancer may spur consumers toward healthier behavior. But when it comes to conditions such as Alzheimer’s and Parkinson’s that can’t be prevented, many experts are divided on whether knowing is helpful or harmful.

Yet even as physicians and bioethicists wrestle with the implications of revealing dark DNA secrets, entrepreneurs like Wojcicki are planning to make whole-genome sequencing (WGS) available directly to the public. Other companies, like San Diego–based Illumina, are already offering the test to what its CEO, Jay Flatley, calls a “healthy and proactive” demographic.

So far, these tests have been aimed mainly at early adopters: tech-savvy folks who buy the latest smart phones and are comfortable with life on the cutting edge. But as prices keep falling, the audience is likely to expand. Can the average mom or dad handle knowing all about the risks lurking in their kids’ DNA?

“Everyone at this point is flying by the seat of their pants,” says Jim Evans, a medical geneticist at the University of North Carolina at Chapel Hill who is editor-in-chief of Genetics in Medicine. “The technology is outpacing us.”

Parents, of course, are often particularly receptive to the latest promises of medical science. Firms offering private cord-blood banking bombard expectant moms and dads with what-if scenarios that can tempt all but the most hard-bitten parents-to-be to spend thousands of dollars storing frozen cord blood that will most likely never be used.

(MORE: Will My Son Develop Cancer? The Promise (and Pitfalls) of Sequencing Children’s Genomes)

image: 23andMe's custom genotyping array chips are mounted for processing. Each chip probes individual samples for approximately one million genetic variants (or single-nucleotide polymorphisms - SNPs).

23andMe’s custom genotyping array chips are mounted for processing. Each chip probes individual samples for approximately 1 million genetic variants (single-nucleotide polymorphisms, or SNPs). Photograph by Spencer Lowell for TIME

Adding to the confusion: it isn’t easy to interpret sequencing results. Much of our genome remains a mystery, and sifting through the sheer quantity of information generated by sequencing can be overwhelming. Even medical professionals, after years of training, are often unsure what to make of the pages and pages of data that genomic sequencing spits out. Dr. David Margulies, who oversees a Children’s Hospital Boston initiative to make genetic and genomic insights more accessible, says better interpretation is “the last major barrier to widespread clinical use of DNA sequencing.”

In Cambridge, Mass., a company called Knome is working on erasing that barrier. For $2,000 per person, Knome does the data crunching needed to interpret a sequence, figuring out what all those billions of nucleotides, or DNA “letters,” mean. When the company launched five years ago, its clients were mostly universities and pharmaceutical companies. Now it’s going mainstream. “There has been a big shift this year,” says Knome CEO Martin Tolar. “We have been swamped with requests from clinics.”

(SPECIAL: A Look Inside 23andMe’s Genetic Testing Lab)

Knome’s software separates the data into tiers of relevance. Says Tolar: “There will be a report about different levels of importance that says, These variants are actionable, meaning you know what they are and can do something about them, these variants don’t seem relevant, and these are novel variants we haven’t seen before and don’t yet understand.”

Yet even though some companies are making complex genetic data more digestible, direct-to-consumer tests like the ones 23andMe offers have been criticized for their methodology, which some critics regard as genetics-lite. To weigh in on a person’s predisposition for conditions including celiac disease and melanoma, 23andMe looks only at a small fraction of points along someone’s genome. The company is currently seeking FDA approval for this approach. In the past year, other direct-to-consumer DNA companies have closed up shop before undergoing this kind of regulatory scrutiny.

(MORE: Genetic Testing for Kids: A Good Idea?)

image: One of the sample processing rooms in the CLIA-certified laboratory; DNA samples are applied to 23andMe's custom genotyping array and analyzed here.

One of the sample-processing rooms in the CLIA-certified laboratory, where DNA samples are applied to 23andMe’s custom genotyping array and analyzed. Photograph by Spencer Lowell for TIME

Eventually 23andMe intends to start offering WGS, which dives much deeper by analyzing all 3 billion base pairs, or sets of letters, that make up a person’s DNA alphabet. But unlike the dozen or so academic labs and private companies that are already sequencing genomes or exomes (the subset of genes that codes for proteins, which regulate the body’s tissues and organs), 23andMe would not require a physician’s approval for this process. That means that one day, accessing a sophisticated sequencing test could be as easy as buying a pregnancy test at a drugstore.

Many in the industry remain skeptical about cutting out the clinician. GeneDx, a Maryland-based genetic-testing company, charges $5,000 to sequence an individual’s exome. But the company will run its tests only per a doctor’s request. “If you leave out the physician, there could be significant misunderstandings,” says Amar Kamath, GeneDx’s vice president of marketing.

Parents, for example, may not know that genes are far from the last word in determining disease risk; environment plays a significant role too. And they may be unprepared to respond to the news that their children are predisposed to develop serious diseases as adults. It can be an emotional blow — and a lifelong burden — if a mom learns that her baby girl carries a mutation that increases her risk of breast cancer or a dad finds out that his aspiring linebacker is genetically predisposed to developing Alzheimer’s. That’s why Illumina’s Flatley personally vets every clinical case and refuses to sequence kids who aren’t sick. “We don’t do this just for fun,” he says. “We do it on children when we’re trying to save their lives. We don’t believe parents have a legal or ethical right to do this.”

Wojcicki doesn’t share that viewpoint personally or professionally. Since 23andMe launched in 2006, more than 180,000 people have been tested as the price has fallen from $999 for information on 14 traits and health risks to $299 for more than 200. About 3% have been children, and Wojcicki thinks demand for testing kids is on the rise. “I do believe at some point in time everyone will be genotyped at birth,” she says.

(MORE: Scientists Decode an Unborn Baby’s DNA. Is It Cause for Celebration — or Alarm?)

Nor does she disagree about the value of having a doctor weigh in; she says she had the data from her unborn daughter’s testing sent to her pediatrician. “I did actually find it helpful to walk through that with her,” says Wojcicki. But she takes issue with the need for a physician to sanction the tests in the first place.

Though Wojcicki won’t discuss her kids’ results, she recently mused on her company’s blog about her motivation for testing her children. She’s particularly interested in Parkinson’s disease because her husband has a genetic mutation that heightens the risk by up to 80%. Brin’s mother has the disease; his kids stand a 50% chance of inheriting it.

Wojcicki, who is 39, notes that some genetic findings could be used to influence parents’ everyday decisions, all the way down to which sports their kids play. For instance, there’s a gene mutation called APOE-4 that indicates a higher risk of developing Alzheimer’s. In people who test positive for APOE-4, research has associated traumatic brain injuries with a greater likelihood of brain disease.

In other words, if you know your kid has the APOE-4 gene mutation, you just might knock youth football or ice hockey — Wojcicki played on the varsity team at Yale — off the list of extracurriculars. At the least, you’d probably give extra consideration to insisting that your child wear a helmet on the soccer field.

For Wojcicki, this emphasis on genetic testing has nothing to do with overprotective parenting and everything to do with preventive medicine. “The way I can potentially start to prevent certain illnesses is to know what they’re at higher risk for,” Wojcicki recently told TIME. Her grandmother had macular degeneration; when testing revealed that some of Wojcicki’s nieces and nephews are at higher risk of it, she responded by buying them high-quality sunglasses. If her own kids were predisposed to developing diabetes, she’d encourage healthier eating. “I want to do everything I can to potentially enable my children to be disease-free,” she says.

This is the second in a five-part series exploring the promise and pitfalls of sequencing children’s genomes. Read the full series.

MORE: Complete Genetics Coverage


The much more significant issue here is that the FDA has decided (read their letters to 23andMe) that individual consumers can't handle the truth of their health evaluations. That consumers wouldn't be able to assign the proper weight to the health information, and either wouldn't--or would--seek medical attention. This is not a question of the test not working. It is a question of deeply disturbing proportions about how the US government, via the FDA, hasn't decided that individuals are entitled to an educated medical interpretation of their DNA.

It is the FDA looking out for diagnosticians, and blithely denying individuals the RIGHT TO KNOW the information THEIR OWN BODY CONTAINS.

This should be a scandal of Snowden proportions. 

I can hire persons/companies to analyze and opine on my financial portfolio, the feng shui of my office, my gym workout, my astrological outlook (etc., etc.) and I am expected to use my own critical thinking re how to use the analysis, but somehow, I'm incapable of doing the same with my genetic information? 

Those who don't want to know, don't take the test! But make no mistake, this is the FDA protecting doctors who prefer their patients to know as little as possible. We  OWN our bodies and have a natural right to the genetic data they contain. If we desire to have that data interpreted--at our own expense--why is 23andMe now BANNED from providing that information?

Track my mobile calls--I could care less.  But deny me information that I pay for that relates to my body's unique genetic profile? Because I am too delicate a flower to handle it? Or if it is allegedly useless, why can't I waste my money if I choose?

Understand this is the beginning of a epic battle--the right of individuals to their own genetic information. 




I would be FURIOUS if my parents did this to me.  Not every adult would want to know their Parkinson risk; how dare these parents obtain this information on behalf of their child who is too young to consent?  Can you imagine being an independent adult whose parent has such intimate knowledge about them if you didn't want to know it yourself?  Can you imagine how hard it would be to hide that knowledge if you were the parent?  The article also overlooks the greater familial implications.  We inherit genes from our parents- anyone found to have a breask cancer risk (the actual genes contributing to the largest breast cancer risk are NOT currently included in the 23andMe profile, btw) inherited it from mom or dad, who then is confronted the information completely out of the blue.  I have had too many individuals in my clinical genetics practice decide that they do not want that information to think that this is a trivial risk.


One thing Time has failed to mention  is the revolution in genetic testing is mostly associated with identifying single nucleotide polymorphisms (SNPs) in the chromosomes, i.e. variants. People are actually more than 99% identical at every location in their genome.  The genetic tests seen in the crime shows on tv are of a different character.  Those tests are looking at 13 loci (locations) for unique patterns of  single tandem repeats (STRs).   VS.


IrisInTheOzarks May I suggest that the fearful folks take a look at the following: #1 HIPPA 1996 (Fed Protections re genetic information. #2. Genetic Information Nondiscrimination Act of 2008 (GWBush) in re Ins Companies & others. It began with Clinton's Order 13145.As one who has quite a few family members tested thru 23&me, I believe it worth the cost,no matter what the  surprises  (and there have been some).Before criticizing , one should visit the site for the demo-The Medical aspect has been very helpful. The geneaology  information filled in a lot of gaps for the family. No one loves anyone less or is in distress that a child may not have the "super-athlete gene",nor is the one with 2 copies of APOE4 gene, who has joined clinical trials. The teenagers are amping up math/chemistry/biology skills. So, for all the Chicken Littles, take  a deep breath-it's science that is here to stay. 


If you try to get insurance or file a claim on your health of life insurance you will be required to truthfully answer some health questions including any knowledge you have or procedures you have undergone. If the claim is substantial, you will also need to sign a release allowing the insurance to dig up everything they need to deny your claim. You must release all information, medical and otherwise. Check your policies carefully - the information you get may inadvertently disqualify you from coverage because your policy may require you to notify them immediately about any adverse health issues. Any precondition or possible higher risk of a condition in your future may disqualify you from coverage or even get you cancelled if you are currently covered. Looking into your future health is only for the very wealthy who can pay their own way.


All that's required is a lot of money!


As a kid I knew 6 of my great grand parents. I'm pretty sure I know my future.


An amazing idea and tool and is good for the strong willed. Anne is brave taking this on. 23andme must have huge liability insurance premiums haha. As long as this sort of thing stays optional and never becomes mandatory, I think for science this is great. However here comes loving each other for what you've got in your biological makeup rather than what's in your heart. Relationship criteria. Social sites DNA compatibility apps. DNA testing before marriage! Hurray! /Sarcasm. People could give up on those they genuinely love and opportunities based on probability. Could be very cut and dry. Some of the nicest people are those who care for the sick or those with disabilities. It brings the best out in people. You could say those situations define you. My biggest concern is that people may become suicidal knowing their probable future or even that of their child. What would be a disaster is if statistical information changes occur that show less probability of a disease than they originally had tested and people had been severely mentally affected by the previous information. I can imagine many already unstable teenagers being suicidal over knowing their probable fate. Survival of the fittest thinking ties well in with power (Fascism proved that) and takes out needing to care for others. Have to be careful with that one. Lots of ethical questions isn't there :)


Most of my family has their 23andme results.  Come to find out one of my grandsons has a 45% chance of developing diabetes in his life time. Before knowing this he was a little pudgy. Now forewarned and thus forearmed he is eating fewer carbos and exercising more losing some pudginess.  He knows this is for life.  My wife is a carrier of familial Mediterranean fever which was passed to my son and his daughter.  My granddaughter is now aware that if she should have children with another carrier that there is a substantial probability of bringing a child into the world that will suffer during its life - she will not let that happen.   I see nothing wrong with one's genome being publicly accessible.  I have made mine publicly available on line along with my medical records for a few years back.  So what if people know I am low on testosterone, or that I have diabetes?   Now if I were mentally ill or carried a contagious disease, I might care, but those are examples of the very things others would want to know about for their self protection., and probably should know.  Nature is not fair. It is called natural selection, survival of the fittest.


The so-called "science" of predicting common diseases from genome is based on very shaky statistical correlations because controlled trials--involving one group of people that has a particular set of genes and another group that does not--are very hard, if not impossible, to carry out.  Moreover, in any such trial, environmental factors would be very hard to control. Therefore, barring exceptions like Down Syndrome, where the correlation between defective genes and the disease is 100%, genome-based prediction of common diseases like heart disease, cancer, Alzheimer's etc. is simply an example of profiting from junk science. 


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