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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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 presented yesterday at the 11th Milken Institute Global Conference, taking place through Wednesday in Los Angeles. The conference has a significant health care focus, with session topics ranging from “Is the Pharmaceutical Well Drying out?” to “What kind of Reform Makes Sense?”

There were also a number of developing world topics, and 23andMe had the pleasure of sitting on a panel entitled “Revolutionizing Health Care and Research in the Developing World,” which included Muhammad Yunus, founder of the Grameen Bank and recipient of the 2006 Nobel Peace Prize for his pioneering work in microfinance.

While 23andMe is not currently involved in research projects in the developing world, we recognize that it’s important to start thinking about how we could get involved soon. This goes in line with two important goals of the company: actively engaging researchers and individuals from around the world to create truly global research projects and filling in the gaps in research where populations are currently underrepresented.

Type 2 diabetes is a good example. While type 2 diabetes is a significant issue in the US and Europe, it is also a major health problem in South Asia. 23andMe currently looks at nine SNPs that have been associated with type 2 diabetes. Unfortunately, the majority of those SNPs have only been studied in European populations – leaving us to wonder what they mean for other groups. 23andMe hopes to undertake global research projects in type 2 diabetes to better understand the genetics in all different populations.

The Milken Institute panel discussion concluded with a proposal from 23andMe to Muhammad Yunus that we collaborate on his new Grameen Health Care Initiatives to develop a project in Bangladesh or India. We strongly believe that by involving populations from around the world we will have a much better understanding of genetics and environment – and that will hopefully bring better health care for all of us.

Photo by Hossain Toufique Iftekher

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Some customers who recently ordered our Personal Genome Service™ have had to wait more than the usual four to six weeks after spitting to get their genetic information. We know that it can be frustrating to wait when you are curious about what your genome holds, so we would like to apologize and offer an explanation for the delay.

Because 23andMe is creating an entirely new kind of business in delivering personal genetic information, the regulatory requirements we face are both complicated and uncertain. Because of the way these requirements are evolving, we recently changed the laboratory where our customers’ saliva samples are processed.

Anne Wojcicki

Our new contract laboratory is certified as a “high complexity” laboratory under the federal Clinical Laboratories Improvement Act of 1988 (CLIA). Though CLIA certification and oversight are appropriate for specific health and disease-related testing, we are complying with these guidelines to be consistent with other types of laboratory testing.

This switch does not affect in any way the nature or quality of the information we provide. We are still using the same technology as before. However, the transition from one lab to another has resulted in delays that are temporarily increasing the length of time it takes to process customer samples.

At no time have we experienced any problems with data quality. We are confident, after comparing genome scans from the previous and new laboratories, that they produce consistent information at greater than 99.9 percent accuracy. That means customers who had their samples processed before the switch will not be at a disadvantage now or in the future.

Again, we regret the inconvenience to our new customers. We expect to be able to resume our normal pace of operations within a few weeks. And in the long run, we believe this switch will benefit all of our customers. We’re excited to continue building the 23andMe community!

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We started 23andMe to enable individuals to get access to their genetic information. Our DNA is a fascinating aspect of who we are, and we feel strongly that anyone who wants their genetic data should be able to get access to it. But we also started 23andMe to accomplish something that could impact all of us in a much greater way–to change the current research paradigm.

The power of 23andMe is in the We. All over the world we can see examples of individuals coming together to change society. Healthcare is a shining example of it: The Susan G. Komen Foundation, Livestrong and Team in Training are just a few examples of individuals who have come together to create change.

Our goal at 23andMe is to enable individuals to form communities around shared interests and to empower those communities to be actively involved with research. We call it Consumer Enabled Research. We don’t just want communities to have a voice, we want to provide a platform for them to collectively aggregate their genetic information. One of the significant bottlenecks in research is the lack of data. Researchers and physicians rarely have enough of it to really understand a disease or how to treat it. Our goal is to change that.

We believe personalized medicine could and should become mainstream in the near term. Rather than using often out-dated diagnostic criteria, we believe doctors will be able to utilize new genetics-based methods to more accurately pinpoint a problem. Before taking a drug to treat these problems, patients should know if they are at risk of having an adverse reaction, or whether they should have a lower or higher dose. Medicines are definitely not one-size-fits-all, but unfortunately that’s predominantly how they’re prescribed.

We also believe that individuals should have more involvement in the traits that are studied. Did you know it is hypothesized that red heads require less anesthesia? If you are a red head, you’d probably like to know if that is true or not! At 23andMe, individuals will have the ability to form communities, input information, and help the research world take on new questions.

Researchers are currently limited in the projects they can take on because it’s expensive to recruit individuals, and funding is limited. We believe 23andMe could change this. Individuals have the ability to help lower research costs by making their data available for the research community and by having multiple groups research the data rather than just one. We believe the democratization of data and the increase in competition could help accelerate the pace and diversity of research.

We’re at the beginning of a revolution that combines genetics and the Internet. Wikipedia, YouTube and MySpace have all changed the world by empowering individuals to share information. We believe this same phenomenon can revolutionize healthcare.

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