Typically $199, the ‘free’ DNA test is cheap, but not exactly $0. The offer requires you to sign up for 23andMe’s Personal Genome Service at $9/month for a year. Still, $108 is definitely less than you’d expect to pay. If you’ve ever wanted to check out the secrets of your genetic code, 23andMe’s ‘DNA Day’ discount might be exactly what you need to get you started. Hurry, though, the offer is only good while supplies last, and it will end tonight (April 11th) at midnight PDT.

23andMe is a smart company for many reasons. They were among the first to offer retail DNA analysis to a wide consumer market. In the case of a few big-named illnesses, like Parkinson’s, they have spear-headed drives to collect large numbers of DNA samples that might give scientists insights. They have organized user-driven research initiatives, allowing those who purchase their tests to help determine which diseases the company would try to link to genetic markers in the future. Needless to say, any discoveries about how these illnesses were linked to genes would inevitably make their DNA analysis services more valuable as well. Yet it’s not all so Machiavellian. When these tests end up showing important information about a patient they can be very helpful, and even save lives, as the following video from 23andMe will attest:

As smart as 23andMe has been in developing their business, I’m worried that the underlying technology of their company has an upcoming expiration date. They rely upon a very particular kind of DNA analysis – mapping important gene variations known as single nucleotide polymorphisms (SNPs). While SNPs can provide some meaningful insights on occasion, they are not nearly as comprehensive as sequencing your whole genome. Whole genome sequencing has a price tag of around $5000 or more, so the $108 SNP test seems like a much better bargain. In five years, however, I’m pretty sure that a retail whole genome service could be available for $100 or so as well. Why settle for just looking at pieces of your DNA when you can see the whole thing for about the same price?

Actually, you may not find either option very useful. While some patient will discover meaningful facts about their genes, most of us may not. I certainly didn’t when I took a SNP based test (from a different retailer). Personal genomics are still at such an early level that we don’t know how to weight much of the genetic information we learn from SNP or whole genome analyses. There need to be several more years of genetic research, and dozens of groundbreaking discoveries before DNA testing becomes the universally helpful medical boon we already expect it to be.

If I were to make a recommendation, it would be this: think of these tests as exercises in scientific curiosity. If you want a serious medical analysis, spend more time with your doctor and health professional. If however, you are interested in looking at pieces of DNA just to see what you can learn, then this kind of personal genomics may be exactly what you want. There’s really no better time to satisfy that intellectual itch, so shell up the $108 and order from 23andMe today. Let us know if you find out something interesting about your DNA. Hmm…I wonder if there is a SNP that corresponds to enjoying Singularity Hub.

[image and video credits: 23andMe]
[source: 23andMe]

Old friends and new allies poured $22 million into 23andMe. New research may be the key to keeping the company secure.

23andMe, one of the pioneering companies of personal genetics, is ramping up for another round of growth. According to a recent press release, the Mountain View based DNA analysis business raised more than $22 million in Series C funding. While it’s no surprise that early investors Google Ventures and New Enterprise Associates continued to back 23andMe (Google founder Sergey Brin is married to 23andMe founder Anne Wojicicki), the arrival of newcomer Johnson & Johnson Development Corporation shows that the startup is still attractive to outsiders. Wojicicki commented that the $22 million would go a long way towards expanding their research efforts. While 23andMe has had its issues in the past, this new round of funding could be a sign that the company is ready to bounce back stronger than ever.

Companies like 23andMe test the DNA of customers and analyze it for important single nucleotide polymorphisms (SNPs) – a process that has drawn fire in the past year for its over simplifications. 10 years after the first human genome was sequenced, genetic analysis has yet to provide clinically proven benefits to the majority of customers who use the services of companies such as 23andMe. The FDA, US Congress, and other government regulatory bodies are actively investigating how best to control mail order DNA testing. Experts, like Craig Venter, have dismissed the current state of personal genetics almost entirely. How much can we really predict about your health from just a few random variations in your DNA? Analyzing SNPs may be too simple of an approach to understanding the importance of your genes.

Yet clearly 23andMe’s investors are making a $22 million gamble that SNPs will prove to be a valuable commodity in the years ahead. It could pay off. At the recent annual meeting for the American Society of Human Genetics, 23andMe presented some of its ongoing research in linking SNPs to important medical conditions. Last year, they set out to gather data on 10,000 Parkinson’s patients, and have managed to collect samples from 3500 so far (with an additional 20,000 controls). 23andMe has also replicated 100 known associations for genetic conditions and found genetic links for the Mumps. All of this is part of their more general project of democratizing genetic research through customer data collection and feedback.

I don’t know how personal genetics will evolve in the next few years. If I had to take a guess it would be that whole genome sequencing, which is steadily dropping its price towards the $1000 level, will become the new gold standard. Where this will leave SNP analysis and personal DNA testing companies no one can say. It’s an uncertain time, but I think that 23andMe is making the right call. The only way they’re going to survive is by increasing our understanding of genetics. Research is the key to validating the personal genetics industry. We’ll see if $22 million is enough to make that happen.

[image credit:23andMe (modified)]
[source: 23andMe blog and press release]

Gene mutations can tell us our personal disease susceptibilities. Are we ready?

If you were going to get Alzheimer’s disease, would you want to know? Or is genetic ignorance bliss? The new era of commercial genetics is putting all sorts of predispositions right at peoples’ fingertips, and not all of it is good news. As more people are genotyped in both research and commercial settings, a new ethical question emerges: are people ready to face their own DNA? One study at Boston University says – with a few important qualifiers – yes.

The BU School of Medicine ran a multi-year psychological review of peoples’ emotional reactions to learning their susceptibility to Alzheimer’s disease (AD). The Risk Evaluation and Education for Alzheimer’s Disease (REVEAL) study genotyped the adult children of AD patients for the gene ApoE, one variant of which increases an individual’s chances of developing the disease by 10 to 30 times. They then looked at how the disclosure of this information affected levels of anxiety, depression, and test-related distress. The group found no significant short-term psychological fallout of delivering bad news, at least compared to subects’ emotional baselines and a control group. Most people accept the news and move on.

The study was highlighted in a recent Wired feature on Google co-founder Sergey Brin which documents his discovery of a mutated LRRK2 gene within his own genome. Brin, whose wife Anne Wojcicki cofounded 23andMe, has a genetic polymorphism that puts him at a significant risk for Parkinson’s disease. Not everyone has the resources to mount a full-scale assault on their genetic predisposition – Brin has thrown $50 million at Parkinson’s research – but most of us would react as he has: by educating ourselves, weighing our options, and getting on with our lives.

Led by primary investigator Dr. Robert Green, the REVEAL study recruited 162 subjects whose parents have Alzheimer’s disease but who themselves are asymptomatic. All the subjects underwent genetic counseling during which they discussed their family history, learned about the gene in question, and took initial psychological surveys. Subjects were then randomly assigned to one of two groups: a disclosure group which received their genotypes, and a control nondisclosure group whose blood was not analyzed.

Within the disclosure group, 53 subjects tested positive for the ε4 variation of the gene, which is implicated in AD susceptibility. A major theory of Alzheimer’s disease is that it results from excessive amyloid plaque deposits in the brain. ApoE codes for a protein that helps to break down these deposits; the ε4 variant is thought to make the body less efficient at clearing the plaque, putting a carrier at greater risk. All subjects were tested for three psychological factors – anxiety, depression, and test-related distress – 6 weeks, 6 months, and 1 year following the tests. ε4 carriers reported higher test-related distress at the 6 week mark, but otherwise emotional states did not differ significantly from either the ε4-negative or the nondisclosure groups. Most subjects said that given the chance, they would undergo the test again.

Unfortunately, it’s hard to say whether these results could be generalized to the general population. For one thing, all the subjects were people willing or curious to know their own genotype; the study even found that those subjects who self-referred (i.e. sought the study out) had lower anxiety and depression levels in the first place. Researchers also specifically excluded participants whose baseline anxiety or depression were above a certain threshold. Arguably, these are the subjects most likely to undergo significant emotional distress at the bad news. Finally, the researchers acknowledge their results could have been different if their subjects weren’t well educated on the gene and disease (i.e. genetic counseling and family histories with AD).

This final question of education gets to the heart of most concerns about genetic knowledge. Just how well educated is the public when it comes to their genes? Media outlets (but certainly never this one) constantly report genetic research in ways that are both sensationalist and overdeterministic. “Scientists discover the gene for alcoholism!” tends to make a better (and shorter) headline than “Scientists discover gene polymorphism is statistically more prevalent in alcoholics than in control groups!” The difference is important. Too often, people perceive genes as having clearly understood, direct causation with their phenotypes, which is frankly a flattering but misinformed picture of the current state of most genetic science. We haven’t reached GATTACA just yet.

That being said, assuming people can’t handle their own genetic susceptibilities seems (to quote 23andMe’s Esther Dyson on a related issue) “appallingly paternalistic.” Genetics is already becoming ubiquitous, both in medical and commercial sectors. We can’t (and shouldn’t) be protected from our genomes; we should be educated about them. Most of our genetic knowledge regarding disease is probabilistic anyway, so learning about predispositions can help people make smarter preventative dietary or medical decisions (e.g. as with news of high cholesterol). And that’s what I call personalized medicine.

[image credit: Davidson College Dept of Biology; Stanford University]

FDA = Big Brother

The New York Times reports that last week the FDA announced plans to regulate commercial genetics companies like 23andMe and deCODE. The agency sent (and posted) letters to five major genetics companies, claiming their services fall under the FDA designation of a “medical device” and must therefore be regulated federally. The FDA is calling on each company to either apply for federal approval or explain why they are exempt, igniting debates over how the dawning age of personal genetics will fit into existing structures of medical regulation.

Among the letter recipients are 23andMe, deCODE, and NaviGenetics, all companies that test for genetic variations linked to ancestry, disease susceptibility, and potential drug responses. Also tapped was Illumina Inc., a company that sells DNA chips for other companies to use (e.g. 23andMe uses customized versions of their chips), and Knome Inc., which offers complete genome sequencing and has scanned more genomes than any other company in the world. This round of letters wasn’t exactly unprecedented; last month, Pathway Genomics Corp., which markets an at-home saliva genetic test, received a similar letter.

We often report about new frontiers in the genetics revolution – the amazing success of prenatal screening, the dawn of synthetic genomics, chasing the causes of autism and developing new cancer treatments. The acceleration of discoveries in genetic technology is dizzying, and not just for the curious layperson. Legal and legislative institutions have faced the new challenge of making unprecedented decisions about how to regulate these emerging technologies. Can you patent a gene? Can employers or insurance companies peek at your genome? Or, in the present case, does a DNA kit count as a diagnostic tool? These are social, ethical, and political questions that didn’t exist twenty years ago, and our government has been scrambling to address them as they emerge.

The issue at the center of the FDA’s crackdown – what qualifies for federal regulation – has traditionally been determined by how widespread a device or service is.  Generally, FDA approval is required for any medical device that is widely distributed for use in laboratories, doctor’s offices, or sold in stores (Pathway was attempting to sell saliva kits – which we previously described in detail here at the Hub – at Walgreen drug stores).  Companies like 23andMe argue that their genotyping takes place in-house, and should therefore be exempt from federal red tape (the FDA pointed out that the company’s saliva kits are sold on Amazon). Esther Dyson, a board member at the company, has even called the FDA’s position “appallingly paternalistic.”

But distribution isn’t the only issue at stake.  A more interesting question is whether your personal genome is currently a tool for diagnosis – and if not, when it will be. As we’ve covered recently, the state of the union is less than perfect. Commercial genetics companies interpret their customers’ genomes by means of correlation studies; any particular genotype is “associated” with a disease because it is found in higher proportions within diseased populations. This kind of probabilistic genetics isn’t the same as understanding the molecular mechanisms by which genes act, much less the environmental factors involved in a final phenotype. Today, with a few exceptions, a genome scan cannot diagnose much more than statistical likelihoods.

But this will change. As genetic testing gets cheaper, research will accelerate and begin to unlock how gene expression contributes to certain diseases. As a genome scan becomes a real diagnostic tool, it will need to be regulated just as other medical devices are. In this sense, the FDA’s move is preemptive to the changes which will come. I’m tempted to think that 23andMe’s resistance has more to do with the open-source philosophy it shares with its partner, Google. It’s your genome, you should have unregulated access to it, etc. Putting peoples’ health into their own hands resonates well with the brave new world these companies envision: less top-down control, no Microsoft-esque middle man, don’t be evil, all that. The FDA here plays the part of big brother, prying into what is frankly between you and your commercial genetics provider.

Do we want a wild zone of laissez-faire freedom when it comes to genetic technology? Probably not. The industry is changing so rapidly, and in such unpredictable ways, that regulation will be essential to addressing the emerging ethical and social concerns that accompany such powerful technology. But the danger is that regulatory systems are inherently conservative, notoriously slow to adapt to rapidly changing fields – information technology and biotechnology being prime examples. Outdated and sluggish regulation will restrict innovation, slow progress, and increase costs in a tangle of decades-old red tape.  The FDA must coevolve to meet the unprecedented needs of regulating a fledgling market without clipping its wings.

Even if a genome scan can’t currently determine very much, that doesn’t mean people aren’t already making medical decisions based on their results. This trend will increase as our understanding of gene expression gets better. The accuracy of these tests should come under closer scrutiny as they become more and more instrumental to our diagnostic processes and healthcare decisions. Commercial testing will need to be regulated eventually – what remains to be seen is whether the FDA can adapt to this new landscape as fast as it changes.

Testing your family's genetic makeup is about to get a whole lot easier.

Genetic testing, like most technologies leading up to the singularity, has its pros and cons. Would-be parents can feel better knowing they don’t have to pass on life-threatening conditions to their offspring; they might be carriers, but that doesn’t mean their children have to be. For instance, the neurological disorder Tay-Sachs has virtually disappeared because of carrier screening. The foray into this new era of information sharing is bound to effect our lives, but how? A loss of privacy could lead to unjust discrimination. The time of genetic selection using low cost solutions is at hand. But reading genes isn’t exactly like testing for high blood pressure. We should fully understand both the benefits and the consequences of sharing this kind of information before genetic testing is packaged and fed to the masses. Want to know how personal genomics is similar to Web 2.0? Check out the video below.

Shaping one’s own destiny is part of the human equation. When former CEO of Solexa John West ordered whole genome sequencing for his entire family, the industry took notice. By participating, not only could each family member better provide for his or her own health care, but identical genes on opposing chromosomes could be studied in greater detail. For both scientific research and family wellbeing it was a win-win situation. Linda Avey, co-founder of the genetic testing company 23andMe who had her three children genotyped, found that her fraternal twins are identical in the region of the genome where the immune system is inherited; this information would be useful should one of the twins require an organ transplant. Situations like these clearly demonstrate the benefits of gene testing, and soon the service will be available to everyone.

A new market is emerging to make genetic information available to the public. At an average of a few thousand dollars, genetic testing services are now affordable for many families, and the cost is dropping. The genetics testing company Counsyl offers a $350 universal genetic test that looks for genetic diseases using saliva samples. Women are routinely tested as a part of prenatal care, and a good number are stopping their pregnancies if a disease is discovered. One U.S. startup even wants to offer the service for $30 per sequence. But while we can’t yet roll back the price for genetic testing with any assurance, screening for rare and fatal conditions is at present commonplace. Whether or not you consider sequencing your kids the responsible thing to do, knowing your family’s genetic makeup does have its benefits. Carriers of Huntington’s Disease, Cystic Fibrosis and Sickle Cell Anemia can now decide whether or not to take the risk of passing on harmful traits to their offspring. Screening embryos and using only those without genetic problems does seem logical. And it’s only a matter of time before we can genetically select out more diseases.

As the cost of genomic sequencing drops, we may see more commercial niches for gene therapy, including designer athletics and contracting for military personnel. But what are the implications of sharing this kind of information? If embryo screening and artificial design become legally permissible and universally accepted, widespread selective breeding could begin a new era in eugenics that, if unchecked, could favor certain populations over others based on politics, false perceptions and prejudice. Employers could choose to hire or fire based on a person’s genetic history. Privacy and patient confidentiality could be compromised if hospitals and insurance companies see genetic testing as a viable way to curb rising health care costs. Genetic makeup could provide yet another reason for disparities in housing, education, and employment.

Fortunately for now, we can breathe a bit easier. The Genetic Information Non-Discrimination Act (GINA) was passed in 2008 to prevent gene-based discrimination by employers and insurers. But the law does have a number of ambiguities, which leaves the future of genetic rights uncertain. Just because we have the rights doesn’t mean we want the world to have our genetic information. In the video below, Yale Professor of Biomedical Informatics Mark Gerstein touches on the issue of privacy around this new type of information sharing.

In the near future, screening your genes may be as commonplace as getting vaccinated. But the difference between getting the flu shot and eradicating Huntington’s Disease from your bloodline is a big one. At what point will citizens be responsible for cleaning up their own genome? When will that be determined and by whom? The scenarios presented here may seem daunting, and as we’ve seen with nuclear energy, stem cell research and genetic cloning, great power demands responsibility and foresight. There’s no compelling reason to think the human race won’t prevail over adversity. But we need to keep both eyes open as genetic testing develops, or we might just end up selecting out our rights along with all of that other unwanted stuff.

[photo credit: MIT]
[video credit: Fora.tv]
[source: NDSU]

23andMe may have provided the wrong results to as many as 96 customers for its genetic testing services. According to statements made on the 23andMe blog, human error was behind the mistake at LabCorp which provides the Silicon Valley company with its genetic processing. A single 96-well plate used in processing samples was incorrectly placed. Comments accessible only to 23andMe customers reveal that the mix-up caused serious distress among some of those affected (as reported in Genetic Futures and New Scientist). While a relatively minor mistake, 23andMe’s error comes at a bad time, as congress gears up to investigate genetic testing and the FDA considers restricting the industry. The future of SNP-based personal genomics is starting to look troubled.

Genetic testing is an exciting field. New discoveries into the secrets of genes are being discovered every day, and 23andMe itself is looking for genetic indicators for athleticism as well as markers for disease. Yet the industry of personal genomics is struggling with gaining widespread acceptance. The FDA spooked Pathway Genomics (a 23andMe competitor) from retailing its test kits at Walgreens, and congress is looking into the efficacy of such tests. What can someone really learn from spitting into a cup and having their SNPs analyzed? Well, they can learn some vague (and not so vague) suggestions about their health, and their ancestry. Beyond that…well the industry is still in its infancy.

Whether or not it will make it to adulthood is unclear. 23andMe isn’t the only personal genomics service which has flubbed its results. Peter Aldhous (of New Scientist) caught DeCode Genetics in a large mistake when reviewing his results from the struggling company. There’s also the looming threat that whole genome sequencing (which analyses more than 99% of a person’s DNA) may become cheap enough to directly compete with SNP-based analysis.

I am a fan of direct-to-consumer DNA analysis, as I think that every one has the right to freely access and review their genome. However, such access is virtually meaningless if consumers don’t have confidence that the information they receive is not only theirs, but also pertinent to their lives. As always, Daniel MacArthur from Genetic Futures provides some great insight into the issue. His review of 23andMe’s error reminds us that consumers must still be very cautious when receiving genetic analysis, double checking and verifying results before using that data to make health care decisions. I whole-heartedly agree.

23andMe has taken steps to keep the same mistake from happening again. From now on a customer’s sex will be used to double check that they receive their personal results (one wonders why this wasn’t done in the first place). Corrected data for each customer affected by the mix-up was sent out on June 8th.

Despite these stumbling blocks in the industry, I think it’s clear that personal genomics will continue to advance in the years ahead. There’s just too much amazing research into genetics for that not to happen. Yes, right now DNA testing can provide few certain answers, but at some point in the future genomics will be able to give us truly meaningful insight into our health and our lives. Whether or not that future arrives in time to save SNP-based direct-to-consumer companies is unclear. Hopefully 23andMe will be able to overcome this mistake and regain customer confidence. As an industry, 23andMe, DeCode, Navigenics, Pathway Genomics, and the rest need to better define (and possibly expand) what they can offer to the public in order to secure their position in the promising future of genetic testing.

[image credit:23andMe (altered)]
[source: 23andMe blog, Genetic Futures, New Scientist]

23andMe is hunting for connections between genetics and athletics, especially as we age.

Back in October, 23andMe generated a little PR buzz by examining the genetic codes of 100 current and former NFL players and comparing them to non professional athletes. That genome wide association study (GWAS) didn’t actually turn up any remarkable results. Yet the GWAS wasn’t the first or last of 23andMe’s attempts at determining how genetics shapes athletics. Their SNP tests include examinations for key gene variants which may code for muscle growth and sprinting prowess. They have an associated study to find genes linked to sports injuries. Teaming up with the National Senior Games Association, 23andMe is offering discounts to older athletes who get tested and submit athletic surveys. They even offered free testing at the Palo Alto Senior Games (see page 15 of this pdf). No doubt about it, 23andMe is taking strides to understand the genetic variations that help some become athletic stars and force others to sit on the bench.

23andMe has made throwing DNA studies at a topic of interest into something of a hallmark for the company. They’ve worked hard collecting samples for an extensive test on Parkinson’s Disease. Likewise, they’ve begun a “research revolution” aimed at letting users determine which diseases will receive the benefit of their ever growing DNA sample collections. The NSGA study shows that 23andMe is at it again, focusing on what helps us age gracefully and athletically. The work also suggest that 23andMe is actively throwing its weight behind learning about the key genetic ingredients for athleticism at all ages.

I’d like to thank Daniel MacArthur of Genetic Futures for providing great insight into the NFL GWAS and Palo Alto Senior Games study. He points out that the NFL study was simply too small to really generate any meaningful correlations between gene variants and athleticism. 100 samples, even of outlier athletes, isn’t enough. However, MacArthur also points out that the thousands of samples taken for the NGAS study, and other 23andMe endeavors (i.e. the Parkinson’s study) could yield major insight.

What that insight will be is unclear. While a few genetic variants, such as a mutation in the ACTN3 gene, may provide an edge for athletes it’s unclear how big of a factor genes are in determining your physical prowess. As I was recently informed by Malcolm Gladwell’s book, Outliers, the greatest determinant for your success in a sport may be the month in which you are born (due to asymmetry in training over a lifetime). A host of genetic variants that give you a 15% better chance at naturally stronger muscles or a more resilient cardiovascular system may be small compensation for breaking your leg at age nine and choosing to pursue writing over track and field. It’s hard to know if/when/how genetics will trump experience when it comes to something as broad as athleticism.

Still, all things being the same, your genes are likely to form an important part of your athletic potential. Understanding that potential could not only help us compensate for our bodies’ natural tendencies it could lead to treatments for those with debilitating illnesses. Already, we’ve seen scientists pursue gene therapy to harness some of the incredible strength benefits of myostatin blockers in order to help fight muscular dystrophy. With companies like 23andMe discovering new genetic variants linked to life-long athletic talent, we may one day see therapies that could ramp up anyone’s athletic potential to match that of the beefiest NFL line backer.

[image credit: 23andMe]

New studies in the US and Japan highlight important genetic links to Parkinson's disease. Good news for those suffering from the debilitating illness.

Affordable genetic testing continues to enable scientists to find exciting new discoveries that may help doctors predict, prevent, and treat disease. Two teams of researchers recently published in Nature Genetics (a Japanese team from Kobe University, and a US team from NIH) have collaborated to find that five important genetic variants are linked to Parkinson’s. This debilitating brain disease degrades muscle control through a reduction in brain chemicals and affects 1-2% of those over 65. This research was the largest case of genetic testing for Parkinson’s, ever. With the amount of genetic data that can now be processed quickly and cheaply, studies like these are just the beginning.

These two Genome Wide Association Studies (GWAS) rely on finding important comparisons of single nucleotide polymorphisms (SNPs). 23andMe declared war on Parkinson’s by analyzing SNPs one individual at a time and hope to gather 10,000+ samples total. These two GWAS, however,  have already examined the genetics of many thousands of volunteers. By sifting through this massive amount of data, scientists can glean which genetic markers may indicate increased risks of the disease. It’s only been in the last few years that genetic testing has been cheap enough to facilitate such studies. As whole genome sequencing becomes cheaper, researchers will be able to study more DNA than just SNPs. This may lead to an even better understanding of the links between genes and illness. We live in a very exciting time – there is an ocean of data in our DNA that is going to be explored in the next few years.

The Japanese team, led by Dr. Tasishi Toda of Kobe University, discovered four important loci for Parkinson’s named PARK16, BST, SNCA, and LRRK2. Information was taken from 2011 patients with the disease and 18,381 healthy individuals, all of Japanese descent. In the US, Dr. Andrew Singleton of the NIH led researchers to confirm the SNCA locus and add a new one: MAPT. Their sampling consisted of 1713 patients, and 3978 healthy volunteers followed by 3361 patients and 4573 volunteers, all of European ancestory.

Why am I giving you all these numbers? To prove a point. We are talking about tens of thousands (30k+) of people each having their genome analyzed on the cheap. That’s remarkable, and something that would have been unheard of just five years ago.

The two teams confirmed that PARK16, SNCA, and LRRK2 are important loci for all Parkinson’s patients. Interestingly, MAPT was only an indicator for European ancestry, and likewise with BST for Japanese ancestry.

As SNP genetic analysis gets even cheaper, and whole genome studies fall within the budget of research institutions, we are going to see more and more studies like these two. Already individuals can gain access to affordable SNP analysis, and soon the same will be true for whole genome sequencing. That means that you will be able to know for yourself which important markers you carry that may indicate a predilection to an illness. Armed with such knowledge we will all be able to take better control of our health. Hang in there everybody, we’re making progress. (Not so) slowly but surely.

[photo credit: Kristen Ryder]

23andMe is a personal genetics firm that allows individuals to test their genome for key genetic markers. These markers take the form of SNPs (pronounced ‘snips’), single nucleotide polymorphisms. A standard test that grants you access to information about ancestry, health, and traits costs you about $399. A research version is available for just $99. Basically all you do for either option is spit in a special tube and then mail it to the company.

The 23andMe research revolution is pretty straight forward. The company needs volunteers and sponsors to help in genetic testing for 10 diseases: migraines, psoriasis, severe food allergies, arthritis, celiac, lymphoma/leukemia, multiple sclerosis, ALS, epilepsy, and testicular cancer. Sponsors get to vote on which disease will be prioritized. Besides sending in some spit, volunteers will also be entering a lot of health information online in order to find correlations between genes and diseases. There’s no guarantees that the genetic testing and correlations will lead to any worthwhile data, but you have to admire 23andMe for getting out there and shaking things up.

The research revolution isn’t 23andMe’s first foray into a democratic approach to genetic testing for diseases. As we mentioned a few months ago, they sought out 10,000 volunteers for a Parkinson’s study. While there may be some statistical problems with the way that 23andMe solicits volunteers (everyone has to have at least $99, right?) the activism portion of their approach is laudable. With this new push for research, there’s a good chance that some insight will be made into at least one of the ten diseases mentioned.

In the future, other diseases will be added to the list, and past data will be leveraged into the new tests. That’s a lot of bang for your genetic buck. Just to show you how easy the submission process is, here’s a video from health advocate and strategist Jen S. McCabe:

You know, I don’t want to turn this post into a wholesale endorsement for 23andMe and their research revolution, but I’m definitely in favor of it. The idea of democratizing research while still keeping it meaningful is tremendously motivating. 23andMe is setting the basis for future debates on genetics just by affirming an individual’s rights to know more about their own genetic code. As we’ve said in previous stories, the company sits at the crossroads of genetic testing and internet community building that will be a powerful meme going forward. Even if this particular research revolution doesn’t yield results, one eventually will.

Brin appears to have sunk $10 million into this series B round, while Google has put in $2.6 million.  As if the financial investments weren’t controversial enough, apparently Google and 23andme have entered into some sort of leasing agreement, though the details of this agreement are not available.

For those with their heads in the sand, there are two major types of personal genome sequencing out there.  In the first type, your entire genome is sequenced – every single one of your 3 Billion base pairs.  This procedure is expensive and time consuming, and although companies like Complete Genomics are poised to bring this ability to the masses for about $1,000 per individual in the next year or two, the price is currently much higher.  For the masses who cannot wait for the full genome sequencing from the likes of Complete Genomics, an alternative is to have more than 1 million of the most important or interesting chunks of your DNA, called SNPs, analyzed for much less than $1,000 today.  There are two major players in this space, 23andme and Decodeme.  As we reported earlier, Decodeme is facing imminent bankruptcy, and this latest round of funding shows that even for industry front runner 23andme the market is a tough place to be.

Although the future for personal DNA sequencing is eventually going in the direction of full sequencing of every single base pair, 23andme offers a valuable service in the near term that is charting new ground and helping to pave the way for the ongoing genetics revolution.  Given that the future seems to be in whole genome sequencing, rather than with SNPs, the long term future of 23andme seems perilous…I would not want to be one of their investors for the long term.

Ethical investments and economic viability of the company aside, you gotta hand it to 23andme for being an innovative and leading company in the field of genetics.  They have really stirred things up: making genetics cool, bringing real genetic tools to the masses, and proposing bold initiatives for conquering disease.  Most notably perhaps, our earlier story on the 23andme initiative to gather DNA samples from at least 10,000 people as part of a massive effort to identify genes that may be at the root of Parkinson’s disease is laudable.

Now with more money in the bank, 23andme should be able to plug along for another year or more and further the genomics revolution.  Lets wish them well, for we need all the help we can get to achieve the promise of genetics.

(Disclosure: In my previous career I worked at Google)

With backing from Google founder Sergey Brin (recently diagnosed with a genetic predisposition to the disease), Actor and Parkinson’s sufferer Michael J. Fox, and the Parkinson’s Institute, the project has serious credibility and backing.  In order to rally the masses to participate in its Parkinson’s effort, 23andMe will be offering its services, normally $399, for a reduced price of only $25 to members of families with a Parkinson’s history.

For more than a year now 23andMe has been offering analysis of DNA to individuals.  It works like this: 23andMe sends you a kit that allows you to take a swab of saliva from your cheek and mail back to them.  A few weeks later, 23andMe will have analyzed more than 550,000 portions of your DNA, called SNP’s, and the results of this analysis are published to a website where you can view the results.  The analysis can provide information about your predisposition to more than 100 diseases, offer concrete information about your ancestry, and explain the genetic basis for many traits such as eye color.  I have personally tried out the service from both 23andMe, as well as competitor DecodeMe.

23andMe has highlighted its Parkinson’s effort as an example of a new era of research that it calls Research 2.0.  Cheesy name perhaps, but the idea is one that we have long been advocating here at the hub.  With the rise of cheap, fast genetic analysis, superfast computers and software for data analysis, and an ever expanding array of internet tools for collaboration and communication, a new era of understanding and fighting disease is upon us.

We can expect the Parkinson’s initiative from 23andMe to serve as a model for efforts to fight several other diseases over the next decade.  Although the old model of fighting disease through a series of individual, private efforts existing autonomously in research labs, corporations, and foundations across the world is still valid in many cases, the effort from 23andMe represents the rise of a powerful new paradigm of open, collaborative disease fighting.  Today’s internet allows for a new type of partnership between interested individuals, sufferers, corporations, research facilities, and governments, empowered by a centralized community for information sharing and collaboration.

Although the Parkinson’s intiative announced today is an exciting development, we must keep in mind that diseases such as Parkinson’s are extremely complex, likely arising from several genetic as well as non-genetic influences.  The quest to cure and prevent these terrible diseases will not be easy and will not come overnight.  Yet with ever increasing advances in knoweldge and technology, victory is increasingly within our sight.