With analytical contributions from 23andMe Scientist David Hinds

For all human history people have been obsessed with their own mortality. Early explorers searched the globe for the mythical “fountain of youth,” and now scientists are turning that exploration inward to look at the genomes of people who’ve lived especially long lives.

Longevity runs in families, which suggests that the reason some people live longer than others has something to do with genetics. Indeed, some studies have identified a few genetic variants that occurred more frequently in people who live to be at least 95 years old, for example this small study in Japanese men. These few variants, however, don’t seem to contribute significantly to whether someone will live to be 100.

Larger studies looking broadly across the genome for common variants contributing to longevity have mostly come up empty. Continue Reading »

Tags: centenarians, longevity, supercentenarians

By Arnab Chowdry, Senior Scientific Software Engineer at 23andMe

Having been young and healthy for the majority of my life, I haven’t had many opportunities to interact with our health care system.  Not too long ago I was a sedentary, slightly-overweight, South Asian man entering my thirties.  I had some ambiguous family history of diabetes but, like everyone I know, I felt that the less I saw my doctor, the better.  Most importantly, by medical standards, I had no reason to consider myself predisposed to heart disease.

Then, not long ago, my 23andMe data and a paper in Nature Genetics changed my story.  Ironically, I work for 23andMe as a scientist and engineer; I analyze genetic data for a living, but until then my work had been abstract.  I knew we were helping people but never expected any particularly life-altering information to come out of my personal genetics.

It turns out that I carry a mutation in the MYBPC3 gene that is associated with familial hypertrophic cardiomyopathy (HCM). South Asians that carry this mutation are at greatly increased risk for HCM.  Well that’s strange–if I’m a carrier, then one of my parents has to be a carrier, and one of their parents (and so on).  But if it is such a significant modifier of risk, shouldn’t I have heard of HCM running in my family, before?

With some research, I learned that HCM is not commonly screened for, in the United States or India, but is a leading cause of sudden cardiac death in athletes.  So it’s reasonable that I may not have heard of HCM in my family, because it may never have been diagnosed.  But I called my mother anyway and started asking questions: do we have any heart disease in our family? Continue Reading »

Tags: familial hypertrophic cardiomyopathy, heart disease, MYBPC3, South Asian, sudden cardiac death

The 4th annual Personalized Medicine World Conference (PMWC) begins today at the Computer History Museum in Silicon Valley. 23andMe is excited to be a part of this unique event and we look forward to the engaging discussions that are sure to come out of it.

Our Chief Business Officer Ashley Dombkowksi will talk about 23andMe’s unique research platform and opportunities for personalized medicine at 11:45 AM today in her talk, “ReSearch, MeSearch, WeSearch. How Genetics, Consumers, and the Power of Crowd Sourcing are Redefining Healthcare.”

If you’re inspired by the idea of exploring your own genetic information or banding together with others to make meaningful research discoveries, come by our booth at PMWC to order a kit! 23andMe staff will be on site from 8am-4pm both days to answer questions, walk you through the Personal Genome Service®, and get you started. We’ll also have fun freebies for you to take home with you and, if you mention the secret word “WeSearch”, you could take home a free t-shirt!*

We hope to see you at PMWC!

* While supplies last. Limit one t-shirt per person. No purchase necessary. Must be at least 18 years of age to be eligible. Prizes given at PMWC 2012.

Tags: personalized medicine, PMWC, promotions

Today we’re announcing the creation of the 23andMe Ancestry Ambassadors group, composed of ancestry enthusiasts in the 23andMe Community. 23andMe customer CeCe Moore and Product Manager Mike Macpherson, PhD will lead the new group.

Building the best possible personal genetics service has always been 23andMe’s goal, and this group will help to ensure that we take full advantage of our Community’s knowledge and experience to achieve that goal.

The inaugural members of the new group are:

• CeCe Moore (TangledVine)
• Andrea Badger (AndreaBadger)
• Ann Turner MD (Ann DNACousins)
• Larry Vick (Larry Vick)
• Shannon Christmas (AncientPlanter)
• Tim Janzen MD (Tim Janzen)

This group will help guide and influence product development, but will not replace other key sources of feedback we consider when developing a product.  Building a great product requires us to take into account customer interaction on the site, findings from user research, support request emails, Community posts, social media and traditional media responses. The 23andMe Ancestry Ambassadors add another high-quality source of feedback.

This is a small group, as it must be in order to be fulfill its purpose. It has been a challenge to select this group from among our Community members, because many of you contribute so frequently and thoughtfully. One of the first tasks of the new Ambassadors group will be to explore ways to recognize a larger number of active Community members for their contributions, and to take advantage of this pool of ancestry knowledge.

We’re very excited about this new group and its potential to improve 23andMe’s ancestry service. We look forward to a great 2012.

In 2011, 23andMe added or updated 78 health reports. Many of these reports fall into the “disease risk” category and cover complex conditions like Alzheimer’s disease, coronary heart disease, and hay fever (allergic rhinitis), to name a few. We also added new “trait” reports, for instance on the genetics underlying iris patterns, and new “drug response” reports, including one about metformin, a drug that helps the body respond to insulin and control blood sugar levels.

We also added 20 new “carrier status” reports, bringing our total count up to 40+. Most of these reports cover rare recessive Mendelian disorders, which are single-gene conditions that are inherited by receiving one bad copy of a gene from mom and another bad copy of the gene from dad. With these reports, you can find out if you carry a mutation that you could pass on to your children. This information may be particularly important for prospective parents hoping to have a family. If you discover that your children could inherit one of these conditions, you can talk to a doctor or healthcare professional about what you can do.

Read more about some of our new Carrier Status reports… Continue Reading »

Tags: ashkenazi, carrier status, finnish, french canadian, health, health reports, pregnancy

Atrial fibrillation (AF) is a common heart rhythm disorder that, while not usually life-threatening on its own, can lead to more serious complications such as heart attack and stroke. AF can be caused by underlying heart problems but high blood pressure, being overweight, and having type 2 diabetes also increases the risk of developing the condition. It would make sense, then, if populations with higher rates of these risk factors exhibited higher rates of AF. This, however, doesn’t seem to be the case: atrial fibrillation is more common in people of European descent than in African Americans despite the fact that African Americans as a whole tend to have higher rates of hypertension, obesity, and type 2 diabetes.

A research team led by Gregory Marcus of the University of California – San Francisco and Susan Heckbert of the University of Washington in Seattle investigated whether this seeming contradiction might be due to genetic factors. Continue Reading »

Tags: admixture, African American, ancestry, atrial fibrillation, Roots Into The Future

My sister learned she was a carrier for a recessive disease, Bloom syndrome, late in one of her pregnancies. I remember the panicked call and the weeks of worry as she and her husband awaited his test results; if he was also a carrier, this meant their daughter had a one in four chance of being born with the disorder.

Thanks to my company, 23andMe, I was able to look at our Family Inheritance feature and see that my sister and I are genetically identical in the region of the BLM gene, making it quite certain that I was also a carrier for Bloom’s, which is an inherited disorder associated with various health problems and an increased risk of cancer.

Several years later, this information was very helpful when I decided to have children. I retested and confirmed with my physician that I am a carrier for Bloom’s. My husband also got tested and learned that he is not a carrier for Bloom’s, but he is a carrier for Fanconi anemia. Typically in our health care system, I would have to go back and be tested again — another blood draw, a physician visit and weeks of worry. This time, because I had already been genotyped on over one million data points, I already had my data about Fanconi anemia, a genetic disease associated with certain physical abnormalities and increased risk for some kinds of cancer. It turned out I am not a carrier for Fanconi anemia according to 23andMe data, which reports on the three most common mutations. That was reconfirmed by my physician.

23andMe has given back information to customers on carrier status since 2008. At the end of 2011, we put out our 44th carrier status report. In 2012, we will be publishing many more. Continue Reading »

Tags: Anne Wojcicki, Bloom syndrome, carrier status, Fanconi, pregnancy, pregnancy community

Last week, we announced the winner of our essay contest for a free ticket to this month’s Personalized Medicine World Conference. Today, we feature an essay by finalist Nicole Mosher, who is just beginning her scientific career.

“Why I Want to go to PMWC”
by Nicole Mosher

For the past three Christmases, I’ve asked for a 23andMe analysis to come in the form of a shiny gift-wrapped present. Now that the price has dropped, I think this might be my year. I proudly displayed a sash saying I graduated with a degree in genetics while most people cringed at the thought of taking a single genetics class. How someone couldn’t be excited about sequencing technology classes and understanding the mechanisms of retrotransposons is baffling to me. It is pretty easy to see, then, why I would want to go the Personalized Medicine World conference. In the most general of terms: I think it’s really cool. The current push towards personalized medicine has everything to do with genetics, and more than anything, I want to be a part of it.

To be a little more specific, after I graduated from the University of California, Irvine this summer, I started working on a project with the Hyundai Cancer Institute at CHOC Children’s. Our project’s goal is to give better treatment options to children with recurrent and refractory by sequencing both their host and tumor genome and comparing the two, pulling out all of the differences. However, this is only our major goal. We hope to accomplish much more with all of the data we’re going to be compiling. We want to make personalized medicine a reality for children and, in turn, give them hope.

It would be incredibly beneficial for me to attend this meeting in order to help refractory pediatric patients. I would also love to hear what everyone else has to say about translating genomic data into something that is clinically relevant. Understanding personalized medicine is not just my job, but something I am extremely passionate about and it would be a dream to continue working on projects like this one for a lifetime.

As I was reading the proposed schedule for the conference, I felt excitement swarm within me, I practically danced in my seat. I could have the opportunity to listen to a lecture on the clinical applications of NGS? I say that without any hint of sarcasm. This is exactly what I love and why I am going to continue in this field for my entire life. To be able to treat people correctly the first time around without having to guess at statistically significant chemotherapies will not only save time and money, but it will save lives. The long-term effects of chemotherapy aren’t any prettier than the short term ones and if oncologists were given the tools to accurately predict what each patient needed, the benefits would literally be countless.

Finally, to be able to ‘mix and mingle’ with the world’s leading thinkers (for someone at my age who is still applying to graduate school) would be invaluable. I would be honored to spend two days soaking up knowledge from these top scholars. It would benefit me greatly as I apply it to my distant future in the field, and my near future as a graduate student.

Tags: contest, personalized medicine, PMWC

Last week, we announced the winner of our essay contest for a free ticket to this month’s Personalized Medicine World Conference. Over the next couple weeks we’ll be featuring more of the inspiring essays we received. Today, we feature an essay by finalist Jetaime Ross, an aspiring genetic counselor who is passionate about resolving healthcare disparities. Continue Reading »

Tags: contests, genetic counseling, healthcare disparities, personalized medicine, PMWC

From 23andMe co-founder and CEO Anne Wojcicki

23andMe Community,

Let me begin by acknowledging that there are many things we could have done better over the years and there are especially things we could have done better with this recent incident involving the changes to our subscription. We admit that we make mistakes. We will continue to make mistakes. I can personally promise you that we will try to listen more and do better. Dedicating resources to our ancestry product and improving our customer service are top priorities for 2012. We hear you loud and clear and we will be making changes.

There has been significant internal confusion about what was promised to our customers at the end of their subscriptions. I understand that to many of you there was no “confusion.” For this, I sincerely apologize. We will always try to live up to what we promise — now and in the future. We want your respect, we want you to be part of our community, and we want you to be part of the fabulous genetic journey before us.

Continue Reading »

Tags: Personal Genome Service, relative finder, subscriptions