There’s a high likelihood that a disease of some sort affects you or one of your relatives — every family seems to have ripples in its gene pool that define and shape its health dynamics.

Your family might have a propensity for rheumatoid arthritis or a particular type of cancer. Whatever it is, there can be an instant family bond created by that disease — along with a sense of fate.

That feeling moves some families to action. The Heywood brothers started PatientsLikeMe when one of them, Stephen, was diagnosed with Lou Gehrig’s disease in 1998. Nancy Brinker created a huge force in breast cancer research through the Susan G. Komen Foundation, named for her sister who died of that disease. Michael J. Fox, a father of four, started his remarkable foundation after he was diagnosed with Parkinson’s disease at the age of 30.

But not everyone can garner the resources to create their own company or foundation; it’s hard to know where to turn in trying to make a difference. This summer, 23andMe is launching the Research Revolution to empower more people to jumpstart genetic research into the diseases that affect them and the people they love.

This new research model makes it possible for large groups of people to assemble themselves into large-scale genetic studies without having to raise millions of dollars in funding, and then wait years for things to get rolling. Participants also get access to their own genetic information through the 23andMe Personal Genome Service Research Edition, which offers a snapshot of what their data says about more than 100 diseases and traits. We believe that if you volunteer for research, you should be able to see what you’ve contributed to the effort.

The Research Revolution is going to start with the 10 diseases listed at the bottom of this post. There are several ways you can participate:

* Visit the Research Revolution page and vote for the disease you would most like 23andMe to study.
* If you’re already a 23andMe customer, log into your account and complete any of the 23andWe surveys you haven’t taken yet.
* Spread the word — especially to people who are patients or survivors of the 10 diseases we’re featuring.

There’s strength in numbers. The more people who enroll in the Research Revolution, the more likely it is to make new discoveries about the causes and about the treatments of disease.

Long live the revolution!

The 10 Research Revolution diseases are:

ALS
Celiac Disease
Epilepsy
Lymphoma and Leukemia
Migraines
Multiple Sclerosis
Psoriasis
Rheumatoid Arthritis
Severe Food Allergies
Testicular Cancer

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Each one of us carries in our cells the vital genetic data, compliments of our parents, that code for many of our traits and attributes.  Whether it’s our eye color, height or the ability to consume dairy products, the variations in our genes contribute to making us ‘one of a kind’.  Unfortunately, these variations can also lead to the onset of disorders that aren’t so unique.

Technology now allows scientists to tap into our DNA as they attempt to unlock the underlying genetic causes of diseases that afflict so many of us.  These studies, often called Genome-Wide Association Studies (GWAS) because of their comprehensive design, are producing some very compelling results. Under the present research model, individuals who are asked to consent to participating in these studies typically donate a blood or saliva sample and provide access to information about their particular disease (or drug response, in the case of pharmacogenetic studies) through their health records or through diagnostic interviews.  Scientists then look for genetic correlations that can help direct the development of diagnostics and therapeutics.

This model is fairly steeped in tradition and protocol.  Once your sample and information are collected, researchers go out of their way to break the link back to you, with the mindset that it’s a necessary measure to protect your privacy — and, frankly, minimize their liability to deliver and explain the data. The genetic information derived from your DNA is often “de-identified” or “anonymized” so that it can’t be traced back to you.  As a “human subject” in a study such as this, you are not offered access to this very personal data.  Yet it could be very important for you to know. Now that we have more knowledge about how our genes impact our lives, thanks to these very studies, shouldn’t you be given access to the data if you want it? Even if there’s little you can do to alter the course of your genetic predispositions — which are often not definitive — we’re seeing overwhelming evidence that a lot of people would like this information.

At 23andMe, we believe it’s time for a research revolution, where the people involved — let’s no longer call them human subjects — can play a more active role and contribute more directly to studies of most interest to them and their families.  And if any individual would like access to his or her data, he or she should be granted that request.

In this spirit, 23andMe is proud to support www.HealthDataRights.org and the Declaration of Health Data Rights.  We believe genetic data are an integral part of your health information, and you should have access if you so choose.

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Every year, 130 million babies are born around the world. Yet little is known about why some women sail through their pregnancies, while others encounter issues such as infertility, miscarriage, pre-term labor, preeclampsia and gestational diabetes. Giving birth, whether in medically-advanced countries or in the developing world, is shrouded in mystery when it comes to predicting these conditions, and women have to face pregnancy with a “wait and see” approach to whether it will go well, or not. Modern medicine has certainly improved survival rates during childbirth, but research into identifying why some moms — and which ones — will go on to develop certain complications has been underserved.

We believe mothers like us, and soon-to-be-moms, would prefer to carry out their pregnancies armed with as much knowledge as possible, for the sake of themselves and their families. This is why we’re so excited to be announcing the launch of our newest community. The 23andMe Pregnancy Community is dedicated to bringing women together to help us shine a bright light on the whole birthing process, from conception to delivery and beyond.

By participating in this new endeavor, women will be invited to share their pregnancy experiences, both past and current, through online surveys we’ve developed with obstetrics experts. The Weekly Survey, for example, tracks a pregnancy throughout its course and gives each participant immediate feedback compared to others who are at the same gestational time point. Whether you’d like to know how your weight gain compares to a supportive group of women in the 36th week or if you’d like to see who else opted for a nuchal scan ultrasound at 11 to 13 weeks, you’ll soon feel a kinship with others in a whole new way.

In addition to surveys, our pregnancy community has a forum for posting questions, concerns and humorous anecdotes. If you’ve ever been in a conversation with a clutch of moms, there’s no end to the stories and reflections each and every one of them wants to share about her pregnancy. And, of course, we all think our own stories are the most interesting! (Linda has a great tennis ball story! ☺)

Another new thing about this 23andMe community is that spitting is optional! Up until now, participation in the 23andMe communities required you to enroll in our Personal Genome Service™ (meaning payment of $399 and a saliva sample). While we encourage participation at this level, we want our pregnancy community to be available to everyone who would like to join. The more women who are online sharing their experiences, the more we’ll learn together.

As our community grows, the 23andMe research platform is primed and ready to start analyzing the potential genetic underpinnings of pregnancy complications. If not for ourselves, we hope our daughters can enjoy healthier pregnancies because we’ve chosen to share the stories of our own.

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We started 23andMe with a simple, yet expansive, vision: to take DNA into the mainstream.  In order to demystify genetics, we thought the best approach was to give individuals access to their genomes and help them gain personalized insight into their own unique code.  This was our premise when we launched a year and a half ago.  We now have

an expanding community of individuals, armed with their genetic profiles, who are the early adopters of what we believe will become standard practice — having ready access to vitally important information.

We’re now moving into the next phase of our mission:  to provide a wholly new research platform that enables our online community to voluntarily participate in unprecedented genetic studies.  Our approach is new because it leverages the web to bring people together from all over the globe who are willing to share information about their own health experiences (phenotype), which is then combined with their genetic profile (genotype).  This combination, genotype + phenotype, is the same formula that drives genome-wide association studies (GWAS). But ours is a community-centric model that also delivers on-going, valuable feedback to each member.

Scientists have only recently had the ability to conduct GWAS, owing to tremendous advances in the technology platforms that generate the data, as well as spectacular decreases in the cost.  These studies are now yielding compelling results in the examination of many common diseases and are chipping away at the elusive genetic components of conditions such as type 2 diabetes, heart disease and many of the cancers.  These diseases aren’t like single gene disorders (such as Tay-Sachs, cystic fibrosis and sickle cell anemia) in which the genetic story is straightforward.  Most common diseases have complicated genetic as well as environmental components, and teasing out these factors is painstakingly difficult.  This also holds true for the study of genes and drug response (pharmacogenetics), the holy grail of personalized medicine.

One of the biggest challenges in conducting GWAS is identifying large enough cohorts of people with a disease or trait, and then being able to categorize the details of their symptoms and progression.  Combine this with the complexity of multiple genetic factors, each with a relatively small effect but somehow working in concert, and it becomes maddeningly difficult to put two and two together.  This is why these studies require very large numbers of enrolled individuals, to achieve the statistical power required to make any headway.  If researchers are limited to a defined geographic region in which to recruit patients, they often can’t reach the bar.  This often leads to consortia-based projects, where multiple clinical centers combine resources.  The problem with this model is the lack of continuity between the groups, not to mention the power struggles that often ensue: Who writes the grant? Which lab runs the samples? Who controls the rights to the data?  Which institute files and maintains the patents? Who is the lead author on the publication?

Our goal is to greatly simplify the entire process.  By centralizing the recruitment of individuals, the lab work and the collection of phenotypic data, we believe we’ll be able to move beyond traditional hurdles and take GWAS to a whole new level that we’re calling Research 2.0.  We think the study of human disease and drug response deserves the application of 21st century technology, including the use of social networking tools proving so effective in web-based sharing of information à la Facebook and YouTube.

So today we are announcing the first of many studies we plan to undertake.  Parkinson’s disease has all the elements described above:  complicated genetics, hints of environmental triggers, varying rates of progression, differing drug response.  We’re excited, and gratified, to have Sergey Brin’s support, as well as the cooperation of The Parkinson’s Institute and The Michael J. Fox Foundation, in jump-starting the world’s largest study of this disease — involving 10,000 individuals with PD.  Please visit our Parkinson’s Community for more information on this ground-breaking project.

This is just the beginning of our mission to establish a new paradigm that changes the face of research, and focuses on the people rather than the process.

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23andMe Co-Founder Linda Avey.

Personal genomics is an emerging field, and we were aware, when we first started the company, that we would challenge some of the existing precepts about how, and why, people might choose to access their genetic information. When we launched the 23andMe Personal Genome Service™ last November, it was not intended as a “genetic test” per se; it was designed to be a means for people to tap into their own DNA and gain an intimate understanding of the genetic associations researchers are discovering at an ever increasing rate. By providing people the voluntary opportunity to learn more about their own genes, we set out to facilitate genetics going ‘mainstream’, which we believe could hasten the path to personalized health care.

23andMe Co-Founder Anne Wojcicki.

We weren’t surprised to see California and New York stepping in to exert regulatory oversight of this nascent industry. We strongly believe in transparency in the services and information we provide to our customers, and even though we don’t agree existing statutes are the best fit, we agreed to voluntarily apply for clinical licensure from California. We were happy to work with the state’s Department of Public Health in showing how our scientists validate the genetic markers that are the basis for the health-related topics found in our Gene Journal (now called Health and Traits) section. 23andMe was granted a license on August 15th, which clears the way for us to continue offering our services in California. In the meantime, we’re waiting to hear from New York on guidelines they’ve indicated they’ll propose.

It’s clear that this is only the start of the dialogue between regulators and genomics companies that offer direct-to-consumer services. Our hope is that the state and federal agencies will harmonize their efforts so that proper regulation is meted out consistently and with a clear purpose. Longer term, it’s also evident that new regulations are needed to ensure privacy and freedom of choice to enable individuals to make their own decisions about what is most personal, including access to their own genetic information.

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We agree that this evolving field of personal genomics is in need of proper regulatory oversight. While our mission to provide accurate and contextual information to our customers about their genetic information is aligned with the regulatory mandate to protect the public health, we also want to ensure that efforts to rein in our industry do not hamper the potential benefit of genetic knowledge to our health.

Most recipients of healthcare—those of us who are lucky enough to have health insurance or other means to pay for health-related services—recognize that it cannot remain one-size-fits-all. Whether you’ve had a bad reaction to a drug or felt that your physician’s diagnosis didn’t hit the mark, it’s clear that our healthcare system has a long way to go before we advance to a more personalized approach. Genetics could move us toward that goal by revealing the roots of common diseases, providing the basis for more accurate diagnostics and giving doctors information about how a patient may respond to a particular drug or treatment.

The blood-thinning drug warfarin (Coumadin) is a great example of how far doctors are from using genetics in their practices. Right now physicians typically prescribe a standard dose for all patients. Then they closely monitor each patient through blood tests to make sure the dose isn’t too high (which could cause excessive bleeding and other complications) or too low (allowing clots to form).

This trial-and-error process is costly and inconvenient; the hope is that it could eventually be supplemented with a molecular-based approach. Genetic studies have identified several genes that play a role in how individuals respond to warfarin. The FDA has even added language to package inserts suggesting that measurement of these genes could be used to help doctors determine dosage levels. But asking doctors to trust genetics requires a leap of faith that most are not willing to take, especially in the United States’ litigious environment.

What is needed is an on-going (prospective) study that follows thousands of patients on warfarin who are under-going blood testing AND who have been genotyped. By collecting drug response data on an on-going basis through accepted practices as well as examining the genetic profiles of these same individuals, evidence-based proof could be established that the medical community needs before they’ll trust genetic markers.

Now imagine this same scenario for pretty much every other drug on the market. Unfortunately, no existing mechanism can gather the massive amount of information needed to drive these studies.

This is the fundamental reason we founded 23andMe. Our first mission is to enable personal access to genetic information and provide a look, through the prism of an individual’s genome, at the flood of research discoveries being published. Our longer-term goal is to utilize a web-based platform that gives individuals the ability to share details related to their personal traits–including diseases they have and how they respond to therapies–uniformly layered on their genetic profiles to start building the evidence needed to drive targeted diagnoses and treatments.

It could take hundreds of thousands of people participating in these types of studies before true progress can be made in personalized healthcare. And these people need to come from a diverse population so that everyone, not just people of European ancestry, can benefit.

What better places than California and New York to engage large, diverse communities? We hope to work with the regulators in both states to demonstrate how our Personal Genome Service can become a viable means of translating genetic knowledge into the clinic. With appropriate regulatory oversight, we believe 23andMe can play a significant role.

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Over the past several months the press has reported a steady stream of breakthroughs in genetics. In what the New York Times has called “a continuing wave of discoveries about the genes underlying common diseases,” studies have found genetic links to breast cancer, diabetes, Crohn’s disease, restless legs syndrome, glaucoma and dozens of other diseases and conditions. These new discoveries, and many more like them, amount to nothing less than a revolution in understanding how our genetics makes us who we are.

But what are we to make of all this information? If the Times says some people have a genetic variant that increases their risk of glaucoma a hundredfold, it’s natural to ask: What does this mean for me?

That’s why we started 23andMe. Using the same tools that scientists do when they establish these connections between genes and diseases, our customers can find out how their own DNA may influence their chances of developing scores of different common conditions. They can also discover how their DNA may influence traits as varied as athletic ability, intelligence and dietary preferences.

All it takes is a half-teaspoon of spit. That small amount of bodily fluid contains enough DNA to create a digital catalogue of more than half a million points in your genetic sequence, known as SNPs, where people are known to differ from one another. Those genetic differences tend to translate into physical differences – like being left-handed, having curly hair or being lactose intolerant.

Using techniques that weren’t even available a couple of years ago, researchers are studying large sets of these SNPs and learning new things about how they correlate to the inherited aspects of what makes us who we are. 23andMe scientists are closely following this research, translating it into plain English and connecting it to our customers’ genetic profiles. Our scientists also have a set of rigorous guidelines they follow in choosing which genetic correlations to report; if certain studies don’t meet these criteria, we’ll hold off including them until further validations are published.

This is very much a work in progress. For example, researchers know that genes have a great deal to do with how tall a person is. But so far only one gene has been well demonstrated to influence height – and which version a person has translates into a less than a quarter-inch of actual stature.

And there are dozens of non-genetic, environmental factors that can have a lot more influence on a person’s height than genes do. It’s important to keep these factors in mind as we move forward with the personal genetics revolution.

At 23andMe we fully recognize the need for societies to discuss and debate the implications of this new information. We encourage discussions and welcome your feedback. And we advocate preparing for the future with measures such as the Genetic Information Nondiscrimination Act, which would make genetic discrimination by employers and insurance companies illegal.

But we shouldn’t let these discussions hold up progress. In the last half-century, the digital revolution has utterly transformed our relationship to space and time by giving us unprecedented access to information about the world around us. With this new genetic information, the revolution will extend to our very selves.

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