The Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH) is an exceptional study that has the potential to transform medicine.  As someone who proudly spent over 25 years as a patient with Kaiser, I would be excited to see my family’s medical records used for such a worthy cause.  I was disappointed, however, to learn that Kaiser will not be giving participating individuals the option to get access to the genetic data Kaiser generates in the study, as I said in my recent TEDMED talk.  Yesterday, Cathy Schaefer, executive director of the RPGEH, commented on the Robert Wood Johnson Foundation blog that the research data will not be returned “because genetic information obtained through today’s genome-wide studies has not been designed to be useful to individuals; it is designed for use in research” (also noted by Genomics Law Report and Genetic Future).

I strongly disagree that one’s genome is currently only useful in research and not for individual use.   There are a number of highly useful genetic results that may be generated.  Individuals may learn that they are carriers for Mendelian disorders such as cystic fibrosis or sickle cell anemia.  The genetic data might reveal that an individual is at higher risk for certain diseases such as age-related macular degeneration, blood clots, Parkinson’s disease or breast cancer.  Last, the genetic data may tell an individual whether or not they are likely to respond to certain drugs, like Plavix and Coumadin.  Is it right for Kaiser to tell me what information I can or cannot have about my own body and my own genes?

I co-founded 23andMe, a personal genetics company, to enable individuals to access their genetic information—what we believe to be a fundamental right.  We also believe this right should extend to research participants.  Though the RPGEH plans to inform individuals if researchers discover something that “may be important to their health”, this is not the same as an individual having their complete data in hand, and it is unlikely that researchers would continue to update 100,000 participants as genetic research progresses.

Even if genetic research is at an early stage today, having one’s genetic data will be of increasing utility as research progresses.  Individuals have a vested interest in understanding what their genetic data mean in the context of new studies.  They may examine their data through 23andMe, other companies, or open-source services such as SNPedia.  The choices about what to do with that information are then with the individual, where they should be.

My husband, Sergey, learned through the 23andMe test that he is at substantially higher risk for Parkinson’s disease. That information has had a significant impact on our lives.  We eat better and we exercise more.  We are motivated to follow, participate in, and fund Parkinson’s research.  This information is important for understanding our general health and for helping us plan our lives.  Some in the medical world do not believe we should have this information.  In fact, when the Parkinson’s variant was discovered, we were dissuaded from being tested because “there is nothing to do.”  But there are things one can do, and that choice should be ours.

A growing body of evidence suggests that individuals do not suffer adverse effects from knowledge of their genetic data, and that public opinion leans strongly toward offering the return of results to research participants.  For example, in a study of focus groups, the Genetics & Public Policy Center found that “focus group participants voiced a strong desire to be able to access individual research results.”  And far from frightening people, returning genetic results could provide an incentive for future recruitment into these important studies.  Whole-genome information would also be useful to the growing number of people interested in genealogy.

We also believe that researchers cannot know—and therefore should not dictate—what is or isn’t useful to individuals.  Even for “non-actionable” variants with severe consequences such as the ApoE e4 association with Alzheimer’s disease, research from the REVEAL studies at Boston University showed individuals may find personal utility in having their data.  For example, they may choose to prepare their family, buy long-term care insurance, or participate in research—these are choices individuals and families have a right to make with knowledge about their own health.

Kaiser is breaking new ground with the RPGEH study but we believe they are missing a key component.  Kaiser should afford the participants the respect they deserve by allowing them to decide for themselves whether they want to see their own genome.

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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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My surname — Holden — has gone through many incarnations since it originated in England nearly 700 years ago.  Letters were added, then dropped.  Some branches of my family added an extra “u” in the middle, while others changed the pronunciation entirely.  Then, when my ancestors arrived in America over 200 years ago, the name went through a whole new set of changes.  It seems my surname has been in a constant state of change since its inception.

But the story of my surname is not unique.  Millions of Americans have similar stories about ancestors who, upon arriving in the New World, actively changed their names to sound more “American.” German immigrants named Blum became Bloom, Küsters became Custers, and Kÿfers became Coopers. Immigrants from Italy, Sweden, France, and countless other countries underwent similar transformations.  After just a few generations, the original spelling or pronunciation was lost.

Just as our surnames have changed over the centuries, little by little, so too has our DNA.  In fact, some regions of the human genome acquire mutations in such a way that researchers can trace the changes back through time – much like tracing a surname back for generations in a family tree.  And one region in particular, the Y-chromosome, happens to be passed down from father to son, the same way surnames are inherited in Western culture. That provides a wealth of opportunities for scientists from a variety of disciplines to use the Y-chromosome to unlock history’s secrets, unravel family trees, and even solve crimes.

The Genetic Legacy of the Vikings

The histories of Scandinavia and the British Isles have been entwined since Vikings from Norway and Denmark landed on the eastern coast of England in the year 792.  Successful raiding parties eventually led to settlements along the eastern half of England.  Today there are remnants of Viking settlements in this region in the form of place names, unique vocabulary, and even surnames.  Last year, British geneticists took surname information from an area formerly settled by Vikings to see if men living there today who had Scandinavian surnames also had evidence of Scandinavian (aka Viking) genetic ancestry.  They analyzed the Y-chromosomes of several hundred men, and, not surprisingly, found that those with Scandinavian surnames did indeed have Scandinavian DNA, at least on the Y-chromosome.  Similar studies of Irish men have also found a modest connection between surnames and Y-chromosome types.

Surname DNA Projects

As we reported several weeks ago, the field of genealogy has been invigorated by the increasing use of genetic testing to fill in the missing branches of a person’s family tree.  Genealogists are now comparing their Y-chromosomes to those of others with the same surname, to see if a shared surname is also an indication of the shared ancestry.  Within the past few years, surname DNA projects have sprung up all across the world – with hundreds of genetic genealogists digging deep into their genes as they piece together their detailed family trees.

Surnames and Forensics

By far one of the most interesting applications for surname and Y-chromosome comparison is in the field of forensic science.  In 2006, British geneticists found that – for some of the more rare surnames such as Maloy or Rivis, there was a strong connection between surname and Y-chromosome haplogroup.  The authors reasoned that, if DNA were to be recovered from a crime scene, forensic investigators might be able to narrow down the possible perpetrators to a specific subset of surnames.

However, there are several limitations to this idea – namely the fact that most men in the UK have rather common surnames, such as Smith, Green, and Adams.  Men with these surnames have a wide range of Y-chromosome DNA types, so it would nearly impossible for investigators to use the Y-chromosome to locate a suspect.  However, on principle this idea has merit, and further advances along these lines may someday allow investigators to exploit the DNA-surname connection.

One final note: 23andMe customers need not worry that their data will be used in this way — our research database does not include surnames and our terms of service do not allow us to share data with law enforcement unless we are legally compelled to. And even if such a situation did arise, we have publicly committed to resisting legal requests for customer data.

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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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23andMe is proud to announce a major step toward our goal of democratizing genetic information by giving our customers access to even more of their SNP data through our next generation custom content, all at a lower price.

With the introduction of v2, our next-generation analytical platform, 23andMe customers will have access to an even more powerful set of SNPs we use to probe their unique genetic composition. And thanks to advances by Illumina, the provider of our genetic analysis technology, that information will now be available at the reduced price of $399. By making genetic data more affordable and accessible, we hope this development will spur the evolution of personal genomics as a potent force not just in science but also in medicine and everyday life.

Our scientists spent many months sifting through scientific journals and online databases to select new SNPs for v2 that were either unavailable or unrecognized as significant markers when we designed our original v1 platform. Although upgrading to v2 isn’t necessary for existing customers, it will provide access to some future Health and Traits articles that will not be available to customers still using v1. We’ll be sending information on how to upgrade in the next few weeks.

There’s a lot of other things going on at 23andMe these days as well:

* We’ve added a new community feature that lets customers ask questions, share stories and advise each other on how to get the most out of 23andMe.

* We now offer information on more than 85 different Health and Traits topics. The most recent additions include G6PD deficiency (a metabolic condition that often goes undiagnosed), sickle cell anemia and lung cancer.

* Our popular customer-driven research program, 23andWe, has two new surveys for you to try — 10 More Things about You and Optimism — and we are working on more.

We’re also very pleased to announce a new partnership between 23andMe and Ancestry.com, the world’s largest online source of family history information. As part of this arrangement, customers who have their DNA analyzed for genealogical purposes by Ancestry.com will also have access to ancestry-related content from 23andMe.

That’s all for now, but please keep checking in with us regularly — we expect to make a number of new and exciting announcements in coming months!

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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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