Today the National Institutes of Health (NIH) announced its plans to create a public database in which genetic test providers will voluntarily deposit information about their services that can then be searched by researchers, consumers, health care providers, and others. The aim of this Genetic Testing Registry, which is expected to be launched in early 2011, is to enhance access to information about the availability, validity, and usefulness of genetic tests.

“The need for this database reflects how far we have come in the last 10 years,” said NIH Director Francis S. Collins, M.D., Ph.D., in a press release. “The registry will help consumers and health care providers determine the best options for genetic testing, which is becoming more and more common and accessible.”

“We welcome the news of the Genetic Testing Registry,” said 23andMe co-founder Anne Wojcicki in response to the announcement.  “23andMe has always been committed to providing individuals with the information they need to make the most of their own genetic information.  We look forward to working with the NIH on this project.”

More information about the Genetic Testing Registry is available from the National Center for Biotechnology Information here.  Comments and questions can be submitted from this page.  There is also a list of background reading materials.

Francis Collins has done several interviews in the past few weeks where he has discussed the role of genetics in health care, now and in the future. A quick video interview with the Washington Post can be seen here.  An hour long interview he did on the Diane Rehm show is available here.

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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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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 is marking the 23rd anniversary of National Breast Cancer Awareness Month this October with an initiative to build a web-based forum dedicated to helping women who face the disease.

Co-founders Linda Avey and Anne Wojcicki told science and business leaders at Fortune’s Most Powerful Women Summit today that we will be creating a specific breast cancer network within 23andWe, the research division of 23andMe.

“Great strides have been made in targeting treatment for breast cancer,” said Linda Avey. “We’d like to build on this progress, and we believe that by creating a web-based forum that enables women to share their experiences, the entire community could benefit and more personalized treatments may ultimately be an outcome.”

Women whose lives have been touched by breast cancer will be able to come together, share their knowledge and offer advice. They will also have the opportunity to participate in surveys that will be used to drive genome-wide association studies aimed at finding out more about the genetic factors that contribute to breast cancer.

“Women who have been recently diagnosed with breast cancer can learn a tremendous amount from women who have already been treated,” said Anne Wojcicki. “By combining the ability to participate in research with the ability to learn from each other, 23andMe hopes to make a significant contribution to this community.”

Breast cancer can affect both sexes, but it is mainly a concern for women—one in eight will face the disease at some point in her lifetime. The National Cancer Institute estimates that in 2008 about 182,500 women will be diagnosed with breast cancer, and close to 40,500 will succumb to the disease.

• To learn more about breast cancer:
  National Cancer Institute
  Susan G. Komen For the Cure
• To learn more about 23andWe, click here.

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This is Fashion Week in New York City, a twice-yearly spectacle where designers, models, celebrities and the merely style-obsessed meet to consider next season’s top looks. 23andMe managed to lure a few hundred people away from the catwalks Tuesday night to consider the beauty that lies within — DNA.

Our Fashion Week spit party was sort of like a Tupperware party, except instead of buying plastic containers the guests were invited to deposit a saliva sample into one. And instead of taking place at a suburban ranch house designed by Richard Neutra, our spit party went down at the spectacular Manhattan headquarters of IAC/InterActiveCorporation, designed by architect Frank Gehry. The building resembles white curtains billowing in a fresh breeze off the Hudson River. Two gigantic high-resolution video walls line the lobby; the larger one is 118 feet long and 11 feet high.

23andMe team members were on hand to explain the features of our new v2 chip, our new community features and our partnership with the family history site Ancestry.com. Guests also had the opportunity to purchase our Personal Genome Service™ and produce their saliva samples on the spot (but only if they’d waited the requisite 30 minutes after consuming an hors d’oeuvre).

You can see some photos here, or click here for a slide show with more party pics.

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Photos by Monica De Armond

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This morning 23andMe founders Anne Wojcicki and Linda Avey unveiled our new research effort, 23andWe, at the sixth All Things Digital Conference in Carlsbad, California.

23andWe gives our customers a new way to explore genetics while simultaneously contributing to the acceleration of scientific research, simply by taking surveys about themselves. Our customers’ answers to even the simplest questions can reveal hitherto unknown connections between genetics and things people care about, including health, physical traits and other aspects of our lives.

At the conference, Anne and Linda asked media mogul Rupert Murdoch a few questions about himself: Is he lactose intolerant? Does he have a lot of cavities? Does he detect a funny smell in his urine after eating asparagus?

Even such apparently silly questions can have real scientific merit. For example, scientists are interested in the propensity that some people have to sneeze when exposed to bright sunlight, because the phenomenon is similar to one that triggers epileptic seizures.

For the record, Murdoch does not sneeze when he comes out of an afternoon matinee. Nor is he lactose intolerant. He smells nothing during post-asparagus micturation. And he has a mouth full of cavities.

We encourage you to try 23andWe yourself. Right now only customers can participate in surveys, but anybody can learn more by signing up for a 23andMe demo account and visiting the 23andWe home page.

Photo by Asa Mathat/AllThingsD.com

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