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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23andMe is proud to announce that, starting today, San Diego’s Palomar Pomerado Health (PPH), California’s largest public health district, will be offering our service to its members. This partnership marks the first time that a health care organization has provided our Personal Genome Service™ to members of its community, as well as the first time that we have made our service available for purchase through a third party.

“As more genetic discoveries are made and the clinical impact of these correlations is more fully understood, physicians and patients will be better equipped to incorporate genetic information into health care and lifestyle decisions. PPH recognizes that providing their patients with their genetic information now is the first step on this path to more personalized health care and prevention,” said 23andMe co-founder, Linda Avey.

PPH is nationally recognized for clinical excellence in cardiac care, women’s services, cancer, orthopedics, trauma, rehabilitation and behavioral health services. PPH has taken an active role in promoting preventative health care and believes that individualized genetic information can help members make more educated lifestyle and health care decisions, as well as help physicians better understand their patients’ health.

“PPH is in the business of helping our members lead healthier lives. Because genetics significantly impacts a person’s risk for developing certain diseases, having access to genetic information can be useful for both patients and physicians in helping to prevent health problems down the road,” said Dr. Jerry Kolins, MD, FACHE, Associate Chief Medical Quality Officer and Medical Director for PPH Laboratories.

PPH will be offering the 23andMe Personal Genome Service™ for $399 at two of its expresscare retail health centers in Escondido and Rancho Penasquitos, and at the Pomerado Outpatient Pavilion (POP) in Poway. PPH patients who purchase the service at these locations will also receive a live, 30-minute Personal Education Session with a PPH nursing professional.

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“Data, data, data! I want to see my data!” sang my 7-year-old, jumping around the kitchen, strumming his air guitar. What on earth was going through his mind? What did he think he’d get when he looked at his 23andMe data? We’ll probably never know, but, possibly influenced by his 12-year-old brother, he was definitely excited about seeing his data. His brother had been asking to see his own genetic information for days, ever since we told him it was available.

Both boys had joined my husband and me a few months earlier as we looked through our own data. They quickly learned how to predict their own genotypes given ours, especially for the easy cases such as when Daddy has an AA and Mama has a GG. So they did have some clue as to what it’s all about.

It took us a while to decide that we really did want to see our sons’ genetic data. The question of signing up children was in the air more than a year ago when Amy Harmon, science writer for the New York Times, interviewed employees at 23andMe as she prepared an article published last November. Amy was grappling with the question of whether or not to sign up her child.

The question of whether and under what circumstances children should be genotyped has been debated for decades, and this ethical discussion is a fascinating and important one. As a scientist however, I chose to take a pragmatic approach. I recall telling Amy that my plan was to look at my own data and my husband’s first, to get a sense of the possibilities for our kids. Dad and Mom both have a low genetic risk for type 1 diabetes? Kids are likely to have a low risk too. Mom has a higher than average risk for age-related macular degeneration and Dad has a typical risk? That’s a little tougher.

Furthermore, given that they’ve reached the ages of seven and 12 without serious illness, we know the boys have been spared some of the rare recessive genetic diseases (where two broken copies lead to disease) that show up early in life. And there is no history in my family or my husband’s of diseases that have a clear genetic basis.

After we had concluded from looking at our own data that we were comfortable with all the possible outcomes for the kids — at least for the current set of traits and conditions — there was one other big thing to consider: non-paternity. Fortunately that wasn’t an issue in our case — I was glad to be confident about that! Nonetheless, one of the first things I looked at when I initially explored my children’s data was the Paternal Line feature, which can reveal non-paternity. To my surprise I found myself a little nervous as I clicked on the link. If the boys’ paternal lines didn’t match my husband’s I was going to have to do a very quick investigation to see what had gone wrong! Sample mix-ups are unlikely, but that would have been my first guess. In any case, when I clicked on Paternal Line, I saw the boys reassuringly listed with their Dad, within Y haplogroup R1b1c. They also shared my maternal haplogroup, H10. Even though I knew they would, it was satisfying to see them there, just like the textbooks predict!

Before showing the boys their data, both my husband and I looked it over; this seemed like an important step. It is challenging because the site is so rich, but we concentrated on things we knew could have the biggest impact, such as age-related macular degeneration and venous thromboembolism. There is no way to check everything however, partly because 23andMe adds new information each month, so there is no way to know whether or not there will be dramatic findings in the boys’ genomes in the future.

I clicked on the Eye Color report, which we knew would be interesting. My husband and I have brown and hazel eyes; both our sons are blue-eyed. The odds of that are pretty low: depending on the parents’ genotype they can be either zero or about one in 16. But there the boys were, both of them, with GG genotypes, having received one G each from my husband and me.

Just because I was enjoying seeing the genetics work out, I clicked on the Bitter Taste report next. My boys had tasted the PTC paper (little strips of paper often used in genetics classes to explore this simple trait) at a 23andMe event last fall. The older one hadn’t tasted much, like me. The younger one, who’s generally pickier than his brother about food, had twisted up his face in disgust. Sure enough, the younger one showed up in the “taster” box with my husband, while the older one turned out to be a “non-taster” like me.

One of my favorite features, maybe because I’m a geneticist, is the Family Inheritance feature, where relatives can compare chromosomes. Each set of relatives has a characteristic pattern. My boys showed up with the characteristic sibling pattern when I compared them to each other — fully identical in 25% of their genomes, half-identical in 50% and unmatched in the remaining 25%. They share only one copy of the immune system genes on chromosome 6 (half-identity), so it is unlikely they would make ideal candidates for bone marrow donation to each other, were that to become necessary.

The boys do share the Alzheimer’s disease-associated APOE gene region at 100%, however. So even though we don’t know their genotypes because 23andMe doesn’t report on that gene (yet), we know the boys have the same genetic risk.

When we found some time one evening to show the boys their data, we first showed them their maternal and paternal lines, and how they matched ours. We then showed them the simple, non-disease traits such as Eye Color and Bitter Taste. My favorite moment was when we figured out that the boys had received their maternal blue eye color from my Dad, who died 20 years ago – my mother doesn’t carry the blue variant. My boys haven’t had many reasons to connect very directly with either of their deceased grandfathers, so when we made this discovery, I quickly looked around for a photo of my Dad, finding a tiny one on the office wall. I pointed it out to my younger son, who exclaimed, “My Grandpa!” Knowing he had received something in particular from his grandpa seemed to strengthen that otherwise wispy connection.

As we meandered around the site, my older son started getting antsy – he wanted to choose what to look at. “Obesity!” was his first choice. I think he may have been expecting a yes/no answer, so he might have been a little disappointed to see that he has close to average genetic risk – neither yes nor no. Type 2 Diabetes was another of his choices. That report revealed that one of the boys has twice the genetic risk of the other. We teased him that he will have to watch the candy intake. I didn’t see the need to make a big deal out of it, in part because I know that although the risk estimates appear quite different there are so many other factors (diet, exercise, other unknown genes) in play that the information is more a reminder to keep an eye out for any symptoms than anything else.

So, should parents get genetic testing for their children? More specifically, should parents who don’t work here sign their children up for 23andMe’s service?

The benefits and risks associated with knowing such information have not been studied systematically. The possible benefits include information that leads to better health decisions. Our family has also benefited from being reminded of our connections with each other and the things we share.

The fears typically revolve around the possibility that strong emotional reactions or misinterpretation of the information could lead to poor decisions. Discovery of non-paternity is a valid fear, as is the possibility that people will feel they are to blame for having passed down a disease-influencing genetic variant. But research studies have shown that most people who get genetic testing, even for serious diseases, may have a strong reaction initially but generally show no change in stress level or quality of life a few months later. That research has been an important factor in my decisions regarding 23andMe’s service.

And what if we are surprised one day, with news that one or both of the boys is at high genetic risk for a serious disease? I predict that we’ll use that information somehow. We’ll learn more about the disease, we’ll study all the prevention and treatment options. We’ll find out about the latest research, and take steps to prevent anyone from feeling that they “caused” this by handing down a mutation. We’ll be proactive. It’ll be a family project.

My older son has asked about getting direct access to his account. Children are not allowed to sign up for 23andMe’s service on their own, for good reason. I “own” my sons’ accounts, and they do not have the passwords. Currently I feel strongly that he should look at his data only with a parent. Maybe we will reconsider as he gets older.

We look forward to returning to the site with the kids as new reports come out and additional relatives sign up. My husband and I might start answering “23andWe” research surveys on our sons’ behalf soon – they can’t answer for themselves given the 23andWe rules, but together we can answer and thereby contribute to research. Another great topic for family discussion raised by 23andMe’s service.

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This is what the new view looks like:

The Clinical Reports page (above) shows topics containing information that is both supported by solid scientific evidence and has the potential to make a real difference in terms of your disease risk or odds of having a particular trait. There are four different sections within Clinical Reports:

• Disease Risks shows you the currently covered health conditions for which your risk is most elevated.
• Carrier Status tells you whether you have one or more of the disease-causing mutations we cover.
• Traits tells you what your genes indicate with regard to a number of physical attributes, from earwax consistency to malaria resistance.
• New and Recently Updated is just that — a list of our newest and most recently updated Health and Traits topics.

The second page of the dashboard contains a list of Research Reports; these contain information that either has not yet been scientifically validated or has been, but does not have a substantial influence on your odds of having a disease or trait. On the left side of the list there are colored dots that indicate what effect, if any, your data have on your genetic risk of disease.

Here’s what the Research Reports page looks like:

The new Health and Traits dashboard isn’t intended to give you all of your information on a single page — you still need to look at the individual reports to see what they contain. But as the number of diseases, conditions and traits we cover continues to grow, we hope it will help our customers find the ones that are of greatest interest to them!

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Consider Erin Mendel, a member of the family whose data is visible both to customers and holders of free demo accounts. Using the Compare Genes feature (reproduced below), you can see that among the genes associated with pigmentation Erin is closest to her brothers and mother, and less like her father Greg.

The Cards You’re Dealt

Assign each of your grandparents a suit – spades, hearts and so on – in a deck of cards. In the game of inheritance, their chromosomes (or chunks of genes) are shuffled (or recombined) and then dealt to their children so that each grandparent contributes one chromosome out of each pair. Your dad then ends up with 23 chromosomes of one suit from his father, and 23 of another from his mother. Your mom has a similar set of paired chromosomes from her two parents. So when your parents’ chromosomes

are shuffled, mixed together and dealt in turn to you and your siblings, you end up with a mix of chromosomes bearing all four of your grandparents’ suits. The illustration on the right shows the proportion of her genes that Erin inherited from each grandparent.

Since each child’s genetic information is produced by shuffling and dealing a new hand from the same genetic deck, there are going to be segments on their chromosomes where siblings are completely identical (having gotten the same suits from mom and dad). If a pair of siblings got the same chromosomal segment from one parent, but not from the other, they will be what geneticists call “half-identical.” In general, parents are half-identical to their children everywhere, because they passed their offspring one out of each pair of chromosomes. The exception is when two parents are related to each other.

Family Comparisons
Using the Family Inheritance option, Erin can see which segments she shares in common with various members of her family.

On the Genome-Wide Comparison chart, bars representing the 22 chromosomes and both X and Y chromosomes can be dark blue (representing a full match), light blue (“half-identity”), white (no match) and gray (not enough information). Below is a comparison of Erin and her father, showing only the first six chromosomes. Erin is only half-identical to her dad throughout her genome because one of her chromosomes out of each pair came from her mom Lilly.

So what does this all mean? Let’s consider the following example. When Erin compares herself to other people at the immune system compatibility trait, she sees red triangles above a region of chromosome 6 known as the MHC, or major histocompatibility complex. The human MHC is known as the HLA (human lymphocyte antigen) system. These genes determine how the immune system recognizes and distinguishes bacteria and other foreign invaders from the body’s own tissues. Aside from tests to verify that the blood types of donor and recipient match, the HLA system is what gets checked to minimize the chances that a transplant recipient’s immune system will reject the organ or tissue donated.

Because they are unrelated, Erin’s parents Greg and Lilly have no identical segments in the HLA system so they probably wouldn’t be a good match for each other. One’s histocompatibility, as this gene harmony matching process is known, is inherited.

On the other hand, Erin might decide to make sure her brother Ian gets great birthday and Christmas presents from now on. When Erin does the one-on-one comparison with Ian using the Family Inheritance option, the results on the right suggest that he might be the best match for her if she ever needs a new kidney or some bone marrow. With “completely identical” HLA systems, the chances are good that they could donate marrow or a kidney to each other without immune rejection.

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We heard all this and more last night at the first-ever 23andMe User Gathering – a chance for the 23andMe community to get together, mingle, and learn from each other and us.

About 50 23andMe users from the San Francisco Bay Area convened in our offices for drinks, hors d’oeurves and genomics. Maternal haplogroups were proudly displayed on nametags, and the room was abuzz with discussions of genes, odd traits, and family histories.

Some users who had learned surprising things about themselves from our Personal Genome Service shared their stories with us. We love this! (Send your story to stories@23andme.com)

Others took the opportunity to ask our scientists and engineers questions about their data or our website. If you weren’t able to make it to the event, don’t forget you can always contact us at help@23andme.com.

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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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While many of the 23andMe scientists have purified DNA more times than we’d like to remember, there are a fair number of people here (on the science team and on the engineering and business teams) who’ve never spent any time at the lab bench. We love all things DNA around here, so we recently set out to make sure everyone at 23andMe has gotten up close and personal with some Gs, Cs, Ts, and As.

We didn’t use human DNA – instead we isolated the genetic material of strawberries (click here for instructions). It’s pretty simple: smash up some strawberries with some soap and salt, add some rubbing alcohol, and voila! DNA!

As you can see in the pictures and video below, it’s an activity that is fun for all ages!

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Bertalan Mesko of scienceroll.com kindly arranged for us (ErinC and joyce) to give a presentation about our company on Second Nature, an island operated in Second Life by the Nature Publishing Group. We talked about the basics of our service, and our newest addition – 23andWe.

It was a great – if somewhat weird — experience. Neither of us has ever given a talk where a horned blue monster and a robot made out of boxes were in attendance!

Thanks to everyone who came to watch!

If you missed it, Bertalan live-blogged our presentation. Our poster will also remain on Second Nature if you want to check it out.

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A lot, said population geneticist and Harvard junior fellow Sohini Ramachandran, who spoke at 23andMe this week.

Ramachandran focused on how genes spread from one continent to another, and how they vary within each region as well.

As an example, she referenced some of the research she did as a graduate student at Stanford, tracing how genetic diversity decreases as the populations sampled get geographically farther away from Africa, long considered the cradle of humanity. For the purposes of measuring genetic diversity, distance from Africa is measured along the same paths that people presumably took at they migrated around the world – over land, without crossing major oceans.

Genetic diversity in the Americas (the darker the color, the more diverse the populations).

As people migrated, Ramachandran said, genetic diversity decreased due to what she called “serial bottlenecks.” In these cases, though a fairly large number of people might reach one spot, only part of that group would move farther on. By chance, some of the genes in the population would not make it into the new territory.

For this reason, Ramachandran said, the researchers find more diversity in DNA samples from African populations than they do in samples from American populations.

Because genetic diversity varies based on who got how far, Ramachandran doesn’t just study the genetic variations across continents but between continents as well. One of the topics she looks at is how genetics could support the theories outlined by evolutionary biologist Jared Diamond in his 1998 book, Guns, Germs and Steel. One section of the book she focused on – and which she called her favorite part – was Chapter 10, “Spacious Skies and Tilted Axes.”

Diamond proposed that continental expansion was partly dependent on how the landmasses are oriented, and that humans brought crops and technology with them as they did so. For example, because Eurasia is on an east-west axis, it was easier for humans to move plants and animals along that axis because the climate was similar. Ramachandran noted that a 2005 study found that humans and domesticated crops for farming spread from east to west about 3,000-5,000 years ago in Europe.

On the other hand, Diamond said, the Americas and Africa are oriented on a north-south axis and as people traveled north and south, they would have found that plants and animals they brought along couldn’t always adapt to the seasonal changes. For example, Diamond noted, the Indians in North and Central America had no pack animals because the llamas and alpacas never moved out of the Andes. And the corn grown in Mexico needed thousands of years to adapt to the changes in growing season and day-length to make its way up north.

If this holds true on a larger scale as Diamond suggested, then there should be population bottlenecks and more distinct genetic differences between populations across the Americas latitudinally (north-south) than there are longitudinally (east-west). Ramachandran also said that the distinct genetic differences between populations across the Americas latitudinally should be greater than the distinct genetic diversity seen longitudinally (east-west) across Eurasia.

Ramachandran and her colleagues reported on the genetic diversity of the Americas last year, but she says more data is needed for this region. She also thinks that Diamond’s proposed north-south axis of orientation isn’t quite right, arguing that it should run northwest-southeast. To better study the genetic diversities of the populations across this tilted axis, she and her colleagues change the way they view the map of the world.

If the planet were a ball, the point at which it would be spinning on someone’s finger might be the South Pole. Using points such as the southernmost area of South America, South Korea or Sri Lanka as the axis of rotation on which to turn the map, Ramachandran demonstrated how she and her colleagues can look at the genetic diversities of populations in the Americas and Asia and find patterns in the genetic variations that might not be so easily seen from other perspectives.

Ramachandran said she hopes to publish her research on the populations in the Americas soon. In the meantime, her talk illustrated how studying genetics can support theories raised about human origins in other areas of study such as archeology, anthropology and history.

Image from PLoS Genetics: Wang et al, 2007

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