Spring is about to, well, spring.  And for many of us, that means breaking out the Benadryl® and the tissues as pollen fills the air and our allergies kick in.

Allergies are part of the daily lives for one out of four Americans, making allergies more common than heart disease, cancer and diabetes combined.  For many people, allergies involve only symptoms that are a nuisance, like sneezing or itchy eyes.  But for some, contact with certain substances can lead to life-threatening anaphylactic shock.  To study this mysterious and growing problem, we’ve released our first allergy survey.

Allergies occur when your body reacts to a normally harmless substance, called an allergen, like it’s a dangerous invader.  Your immune system produces IgE antibodies that recognize the allergen and trigger the release of histamines.  While histamines normally help protect your body against infections, they can cause allergy symptoms when released inappropriately.  This is why many allergy medications are called “anti-histamines”.

The biological process of how symptoms occur after the release of histamines is relatively well-understood, but the question of why the immune systems of people with allergies react to otherwise inoffensive substances like pollen or peanuts remains.  There is a growing body of evidence that supports the “hygiene hypothesis.”  This theory says that our immune systems need early exposure to parasites like roundworms and tapeworms to mature properly.  Without such exposure the risk of developing allergies is increased.  This fits with the observation that allergies are more common and generally on the rise in industrialized countries where parasite infections are far less common than in the developing world.

It is also clear, however, that genetics play a large role in whether you develop allergies.  Having a family history of allergy puts you at much higher risk for also having an allergy, although it may not be the same type. For example, a family history of asthma, which is a type of allergic disease in most cases, puts you at higher risk for a food allergy. While a few genes have been shown to be associated with allergy, the genetic picture is far from complete.  If by learning more about the genetics of allergy we could help predict which children may be more likely to develop a dangerous food allergy for example, precautionary measures could be taken.  In addition, we may discover better ways to treat different allergies.

At best, allergies are annoying.  At worst, they’re deadly.  You can help us take the first steps to understanding the genetics of allergy by completing our new allergy survey.  In the meantime, I’ll be investing in Kleenex!

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By Nick Eriksson, 23andMe Principal Scientist, and Lizzie Dorfman, Parkinson’s Research Project Manager

Less than a year ago we announced the launch of the 23andMe Parkinson’s Research Initiative. Since then, we have built one of the world’s most useful resources for studying the genetics of Parkinson’s disease. This past December we had meetings with the National Institutes of Health, FasterCures, pharmaceutical companies and several key Parkinson’s geneticists to discuss our research. The feedback was unequivocally positive. We are thrilled by the progress we’ve made and wanted to make sure to publicly share some of our most significant accomplishments to date, as well as a preview of what is to come.

So far, more than 3,500 people with Parkinson’s disease from 49 U.S. states and 17 countries have submitted saliva samples for genetic analysis and carefully answered more than 30,000 online surveys to help with our research. Our genetic database now includes many important subgroups of Parkinson’s patients, each presenting a tremendous opportunity for current and future research. These include a large group of people with early-onset Parkinson’s (≤50 years old at diagnosis), carriers of extremely rare mutations that are known to strongly predispose a person for the disease, and people with a family history of Parkinson’s with no known cause. We’ve also had an incredible response from our other communities: more than 8,000 people without Parkinson’s have taken our Parkinson’s surveys so that they can be included in our studies as crucial control subjects.

An important aspect of research at 23andMe, one that distinguishes us from many other research programs, is the way we collect information about the health, activities and environment of our participants.  Traditional methods of data collection — for example, using an existing medical record or a meeting between a researcher and each participant — can be costly, time-consuming and limit the number of people willing and able to participate.  In contrast, 23andMe utilizes simple online surveys that can be completed anywhere at anytime.  This allows people from all over the world to easily participate in our research on an on-going basis. Because this is a new way of collecting data, we’ve taken special care to make sure that the information we collect is accurate.  Careful analysis has indicated that the survey answers our participants have been providing are of very high quality.

How can we tell? Well, one example is that we’ve independently identified many of the same genetic markers previously found by other Parkinson’s researchers.  Even the magnitude of the effects we’ve found are similar to what other research groups have seen.  For example, the published literature has shown that each copy of a G at SNP rs393152 near the MAPT gene reduces the odds of Parkinson’s by 0.23 times. This is very similar to what we’ve seen in our data: we found that each G reduced the odds of Parkinson’s by 0.21 times. Each G at rs2736990 near the SNCA gene has been shown to increase the odds of Parkinson’s by 1.23 times. We found an increase of 1.28 times for each G . In addition, we’ve also replicated the known associations between the LRRK2 and GBA genes and Parkinson’s. All of these results are important and exciting evidence that our revolutionary new way of conducting research is a viable alternative to traditional methods.

(23andMe Complete Edition customers can use the links above to see their own data for the discussed SNPs.)

Thanks to the detailed information that has been contributed by everyone participating in the 23andMe Parkinson’s community, we’ve also been able to verify some things about Parkinson’s that aren’t genetic. For example, we see that LRRK2 G2019S carriers who have Parkinson’s disease show fewer symptoms than other patients when adjusted for duration of the disease, age of onset, and sex. This is similar to the result in a paper published by other researchers in the journal Lancet Neurology in 2008. The survey answers we’ve collected are also able to divide our participants into the classically observed  tremor dominant and postural instability gait difficulty (PIGD) subtypes of Parkinson’s. These and other similar results provide further support for our web-based paradigm for conducting clinical research.  We are currently working with the Parkinson’s Institute, with funding from the Michael J. Fox Foundation, on a long term project to formally show that Parkinson’s disease data collected online is as good as data collected in a clinical setting.

We’re very excited about the possibilities of the data we’ve collected from the Parkinson’s Disease Research Initiative. We’re in the process of writing up some of the results we’ve shared here, along with some others, and will soon submit papers on Parkinson’s Disease genetics to peer-reviewed scientific journals.

Also in store for the year ahead: continued recruitment, new research surveys, cutting-edge and exploratory data analysis techniques and new research collaborations. We’ll be sure to keep sharing our progress.

We would also like to express our thanks for the support and outreach efforts of several organizations. Since our launch we’ve been honored to work with the Michael J. Fox Foundation and The Parkinson’s Institute and Clinical Center. Over the last year we have been thrilled to add the support of The National Parkinson Foundation, PatientsLikeMe, The Northwest Parkinson’s Foundation and The Cure Parkinson’s Trust, among others.

Speaking of outreach, it’s not too late to join in our efforts and help us make even more discoveries.  If you have been diagnosed with Parkinson’s disease, all it takes to join our research initiative is $25, a small saliva sample and the ability to answer online surveys. Learn more and request a discount code here: https://www.23andme.com/pd/.

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By now, you’re probably sick of hearing about the 2009 H1N1 flu, also known as the swine flu.  But if you believe you’ve had it, and you’ve already recovered from your symptoms, please take a few minutes to complete our new survey.

There have been heard reports of people holding “swine flu parties” in hopes of getting the “mild form” of the H1N1 virus.  But there’s really only one H1N1 virus out there.  Any variability has to do with how people’s bodies are reacting to it. (BTW: The CDC says this is one kind of party you definitely want to skip!)

Some who’ve been infected with H1N1 have suffered from nothing more than a few miserable days stuck in bed.  For others, the virus has caused severe illness resulting in hospitalization and even death.  Some of these differences have to do with age, gender and pre-existing disease burden.

But there are probably genetic factors at work too. A study published just today shows that human cells have proteins that seem to be natural flu fighters.  The researchers who made this discovery suggest that genetic changes that affect the levels of these proteins could determine different levels of vulnerability to the H1N1 virus.

By asking our large and diverse group of customers about their experiences with the flu, and then correlating this information with their genetics, 23andMe hopes to help scientists continue to unravel the mysteries of H1N1.  Genetic markers indicating a propensity for an especially severe reaction to the flu could someday be used to identify people in need of extra attention during outbreaks.  And learning more about the flu in general might lead to new management strategies that could benefit us all.  So please, take a few minutes to answer our H1N1 Survey.

P.S. If you don’t think you’ve had the swine flu this year, don’t worry – there are plenty of other surveys for you to take.  You can always participate in this new survey if you do happen to get sick (though we hope you don’t!).

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Nobody likes that sick feeling you get in your stomach when you watch a young college athlete hit the ground in pain and you wonder if his or her career is over before it even started.  And who can forget how Bo Jackson, Steve Young and Dikembe Mutombo, all superstar professionals, saw their illustrious careers end as a result of sports-related injuries.  Even for us amateurs who have a lot less riding on our performance, missing a game or workout because the old knee is acting up again is a total bummer.

23andMe would like to learn more about how genetic factors might predispose athletes of all skill levels to certain sports injuries and you can help.

Injuries can have a huge impact on a person’s life.  For example, more than half of professional American football players retire because of an injury.  One fifth of National Football League wide receivers and running backs who suffered anterior cruciate ligament injuries (ACL, a knee ligament that joins the upper leg bone to one of the lower leg bones) never played another NFL game.

While getting injured is a fact of life in professional sports, it’s no less of an issue for the non-professional weekend warrior.  About 40% of people over the age of 50 have rotator cuff tears, which can cause shoulder pain.  Every year, there are 200,000 ACL injuries, and 100,000 surgeries to try to repair those ACL tears and ruptures.  To add insult to injury, having an ACL tear puts you at higher risk for eventually developing knee osteoarthritis.  This type of problem isn’t restricted to athletes either.  Playing sports like golf or tennis can cause tendinitis, but so can everyday repetitive activities like raking or painting.

The types of activities you’re involved in are obviously a huge factor in your risk for a sports-related injury, but there is evidence that genes play a role as well.  People with a parent, sibling, or child who had an ACL tear are much more likely to suffer a tear themselves.  There’s also likely to be a familial predisposition towards rotator cuff tears.

Knowing ahead of time what injuries you are prone to, either based on the activities you do, or what you’re genetically predisposed to, could be a key to prevention.  Those who are at risk for ACL tears can follow an ACL conditioning program, while strengthening and maintaining the flexibility of the muscles in your shoulders can help prevent rotator cuff injuries. For those who are at risk of tendinitis, taking things slowly and limiting repetitive activities may help prevent inflammation or irritation of the tendon.

There’s some tantalizing data to suggest that our genes can tell us something about our risk for sports injuries, but frankly, very little is known.  23andMe wants to change that, and it’s easy for you to get involved — all you have to do is take our Sports Injuries survey.  By making new discoveries, we can help everyone stay in the game.

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From alchemists and the Philosopher’s Stone to Ponce de Leon and the Fountain of Youth, history is full of stories of people searching for a way to extend life indefinitely.  In recent years, discoveries about the biology of aging have brought us closer to that dream than ever before.  Now 23andMe is asking you, our customers, to help push science even further by participating in our new Longevity Survey.

Human life expectancy is now close to 78 years. Back in 1900, the average person was expected to live only about 47 years.  The oldest person so far whose age was verified by official documents was Jeanne Calment of France, who died at the spectacular age of 122 in 1997, but one aging researcher at the University of Texas Health Science Center has bet that someone will have lived to be 150 years old by the year 2150! Our improved understanding of health and human biology, including the development of antibiotics, has helped to fuel this huge increase in how long we expect to live.

We all know that environmental factors and lifestyle factors are important when it comes to attaining a ripe old age.  You have to eat right, exercise enough, and avoid all those vices like smoking and too much drinking.  But it’s not all what you do and how you live that determines whether you’ll live a long life, and if you do, whether you’ll be in good shape.  Genes are involved in aging as well.

A lot of the work on understanding the genetic factors involved in aging have been done in laboratory animal models.  Mutations in a gene called daf-2 in soil worms can double their lifespan.  Similar mutations can make fruit flies live up to 80% longer, and mice 30% longer than normal.   Daf-2 makes a protein that’s similar to one that binds insulin, the hormone that regulates glucose intake from your blood.  Some have speculated that daf-2 mediates the the longevity effects of dietary restriction (consuming a significantly reduced number of calories without malnutrition), which has been shown to extend the lifespan of both mice and monkeys.

That’s all well and good if you’re a worm or a fly or a mouse, but what about people?  Well, there’s some progress in understanding aging in us too.  Studies have shown that variants in the APOC3 gene and the FOXO3A gene are associated with longevity.  On the flip side, researchers have discovered that  mutations in the RECQL2 gene cause Werner’s syndrome, a disease that manifests as accelerated aging.

Our DNA is likely to hold many more of the secrets to living a long, healthy life.  That’s why 23andMe wants to do research to understand more about what genes can tell us about aging and longevity.  We’re working with experts in aging research from across the country, and you can join us!  Start by taking our Longevity Survey, which simply asks about the ages of some of your family members.  Hopefully together we can make discoveries that will help people enjoy even more healthy golden years.

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—

Dear Editor:

We read with interest the Opinion piece entitled “An agenda for personalized medicine” in the October 8, 2009 edition of Nature. Our two companies, though commercially distinct with differentiated products, would like to respond to this piece jointly to show our commitment to working together in an open, transparent fashion.

Our companies agree with most of the recommendations Ng and colleagues made.  Without doubt, genotype-based risk prediction for common, multifactorial diseases is still in its infancy.  More work must be done to standardize markers used; to better explain the contribution of genetics to common, complex diseases; and to incorporate common genetic variants into clinical practice.  Each company, however, has a few points of disagreement and/or explanation it feels important to articulate.  These points from each company follow.

Response by Navigenics:

With regard to the specific recommendations, Navigenics agrees with most of the suggestions.  For example, we agree with the authors that results showing less than average risk should not be a primary point of focus, a viewpoint that has been incorporated into our service offering in a variety of ways.  Ng et al. recommend “that DTC companies report the proportion of the genetic contribution of a disease that can be attributed to the markers used in their test…” There are many metrics that can be used to describe the completeness/accuracy of these types of tests. However, each of them has advantages and disadvantages, and all can be misinterpreted by experts and laypersons alike.  Furthermore, the call for such information must be put in context with currently implemented non-genetic risk communication. For example, does your doctor know/communicate what percentage of the total risk of cardiac disease is contributed by your cholesterol level?  Or your family history?  Clearly, risk communication has, and will continue to be, an important area of research for the community.

We agree that associations must be replicated in other ethnicities; that prospective studies will be helpful in further assessing the validity of predictions; and that sequencing should be used when the technology becomes more affordable.  The monitoring of behavioral outcomes is another important avenue for future research, and to this end, Navigenics is collaborating with the Scripps Translational Science Institute on a 20-year longitudinal outcomes study.  Pharmacogenomic markers may also offer immediate value to individuals.

We also agree on the importance of including the same strong-effect markers, and with a few exceptions, our companies are consistent.  A standard set of markers would be valuable to the industry and personalized medicine in general, and it may be most practical for a third party to assess clinical validity.  The catalog of genome-wide association loci sponsored by the National Human Genome Research Institute is an example of such a resource.  Further public-private efforts could be placed into grading the cumulative evidence supporting various marker-disease associations using, for example, the Venice criteria.

Regarding the use of surrogate risk markers, Navigenics initially used markers in linkage disequilibrium with published SNPs (with a requirement of r² = 1) to tag SNPs that were not on its genotyping platform. However, Navigenics now directly targets published SNPs, except for a few loci in the HLA region.

Response by 23andMe:

We would like to discuss two technical points about the article.  The authors presented these points in a relatively balanced manner but the subtleties have led to misinterpretations in subsequent media coverage.

The first point is that in the comparison of risk estimates, the thresholds for what Ng and colleagues consider to be “average risk” (0.95 ≤ relative risk ≤ 1.05) are somewhat restrictive.  Using this definition would be akin to telling an individual that her risk of a condition was “increased” because it was 5% more than average—technically true, but unlikely to be meaningful.  While there is no scientific consensus on what magnitude of risk equates with “meaningful” increased risk, one typically does not find relative risks less than 1.5 used today in clinical practice (e.g. family history, non-genetic biomarkers, environmental risk factors).  Thus, it would have been more appropriate to perform the consistency comparison using a wider window for “average risk”.

The second point concerns measures of genetic contribution to disease.  Ng and colleagues correctly note that for some diseases, less than half of the genetic contribution can be explained by known markers, which may lead to false negatives and false positives.  However, the metrics Ng and colleagues use to assess genetic contribution―heritability and proportion of genetic contribution explained―are population-level measures that should not be applied to individual-level risk estimates, as illustrated by two examples.

Estimates of the genetic component (heritability) of Parkinson’s disease range from 0% to 27%, meaning that genetics explains at most 27% of the variance in disease risk.  However, the G2019S mutation in the LRRK2 gene confers a 40% to 60% lifetime risk of developing Parkinson’s disease, compared to 1% to 2% on average.  The low heritability cannot—and should not—be interpreted to mean that the risk estimate of 40% to 60% is inaccurate or irrelevant, or that relative risk due to genetics must be small.  (Visscher et al. address common misconceptions about heritability in a 2009 review.)

Ng and colleagues also note that the contribution of known genetic markers to disease can be measured using percent variance explained, another population-level measure.  This statistic, too, can be misleading if applied at an individual level.  As an example, risk data for BRCA1/2 mutations and breast cancer in Ashkenazi Jews can be entered into a liability threshold model, which has been used to estimate percent variance explained by markers discovered in genome-wide association studies.  According to the model, the three BRCA1/2 mutations most commonly seen in Ashkenazi Jewish populations only account for about 2.5% of the variance in breast cancer risk in that population (Table 1), primarily because of the rarity of the mutations.

It would be misleading to advise a woman receiving a positive result for the 5382insC mutation in BRCA1 not to take the 81% lifetime risk of breast cancer seriously just because that mutation explains only 1.1% of the variance in breast cancer risk.  Though we agree that showing the percent variance explained by reported markers could indicate the state of genetic research on a phenotype, a low value does not necessarily mean that individual-level estimates of risk are unreliable or should be disregarded.

[Table 1.  Percent variance of breast cancer risk explained by BRCA1/2 mutations in Ashkenazi Jews, calculated using model in Raychaudhuri et al. (2008).  All data (except percent variance explained) are from Fodor et al. (1998).]

In closing, both of our companies thank Ng and colleagues for their serious consideration of genomics and personalized medicine.  We welcome further dialogue on how best to improve our offerings to the public.

Sincerely,

23andMe, Inc.

Navigenics, Inc.

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Here’s how it goes for me: a few afternoons a year, usually when I haven’t slept or eaten right, but sometimes for no apparent reason, I begin to sense a pressure behind my left eyebrow and to feel queasy. By now I know what’s coming, and I resign myself to another miserable evening and a coming day or two lost to indistinctness. I rush home and secrete myself in the coolest, darkest spot I can find, because for each of my senses the volume seems to have been cranked to amphitheater-level. I lie there for four or five hours, a dog on a leash, thinking grim thoughts and, despite myself, yelping every now and again when the pain ratchets up. Perhaps you know somebody with migraine and are familiar with the vocabulary they use to capture the experience: ‘throbbing’, ‘nauseating’, ‘excruciating’ and the like. All true. Respite comes only when my stomach has had too much and returns my lunch — normally one wants to avoid this outcome, but here I welcome it, court it even, which I’ve always found darkly funny. Then I fall into a dreamless sleep. While some don’t have it as bad as me, many have it far worse.

With the launch of our new migraine headache survey today, we at 23andMe invite you all to share your headache experiences, whether you’re one of the lucky few who’s never had even a little one or someone who must deal with the threat of migraine pain on a daily basis.  You needn’t be a 23andMe customer to take the survey (although we recommend it). All you need is a free 23andMe account.

Migraine headaches are nasty things. The common feature is a terrible pulsing pain emanating from inside the skull, usually just on one side, but apart from this everyone experiences them a bit differently. Some unlucky folks get them every day, while others get them just once a year. Migraines can last for a few hours or can pound on for days at a time. Then there is the menagerie of symptoms that can accompany the headaches, including nausea, vomiting, visual or aural illusions, and aversion to light, smell, touch and/or sound. Perhaps most variable across people are the causes of the headache, or triggers. For one person the triggers might be red wine or nuts, for another they might be stress, bright lights, or noise.

There is a wide array of treatment options for migraine. With guidance from their doctors, most migraine sufferers nowadays are able to find partial or full relief from their headaches. Despite the effectiveness of these treatments, the basic biology of the disease is not well-understood¹,  and migraine continues to exact a tremendous physical and economic toll on our society².

Two prominent migraine researchers have suggested that the blame for the slow progress in understanding migraine lies with a systemic lack of public funding for migraine research. They argue that the relatively recent, and incomplete, acceptance of migraine by the medical and research communities as a genuine medical problem, as opposed to mere melodrama, has led migraine’s funding to lag well behind that for diseases of similar impact. For example, they estimate that while $13.80 is spent for each sufferer of asthma, just 36 cents of federal research funds are spent per migraine sufferer.

The genetics of migraine are also only partially understood. That’s where our new survey comes in. Our community-based research program 23andWe seeks to empower the public to engage in genetic research from the ground up. We know our efforts cannot substitute for proper federal support of migraine research, but evidence of great public interest, plus a new finding or two, would add to our understanding of the disease and potentially send a message to Washington.

With all haste, then, please head over to the new migraine survey and be counted!

Footnotes:

1. What is understood of its biology and chemistry is fascinating, and summarized well here.
2. Nearly 40 million people in the US, and a similar number in Europe, suffer from migraine, roughly one in every ten people. Migraine occurs in women about three times more commonly than in men. Migraine is estimated to cost  around $23BN/year in the US and Euro27BN/year in Europe in direct medical costs and in indirect costs, such as lost productivity.

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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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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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For many women, finding out they’re pregnant is the kick in the pants they need to quit smoking.  But for some, a genetic variation may stand in their way.

The SNP rs1051730 is located in a cluster of genes on chromosome 15 that are involved in regulating the brain’s response to nicotine. Studies have already shown that the SNP is associated with nicotine addiction. Now a new report, published online last week in the journal Human Molecular Genetics, suggests that the effect of this variation is strong enough to overcome the maternal instinct and social pressure to protect one’s unborn child from the harmful effects of cigarette smoke.

British researchers studied 2,474 women who smoked regularly before becoming pregnant.  When questioned about smoking during their first trimester, 31% of the women with two Gs at rs1051730 had kicked the habit, compared to only 21% of the women with two As.  During the third trimester, 47% of women with two Gs were smoke-free, while only 34% of women with two As were.

Overall, after adjusting for pre-pregnancy smoking quantity, the researchers calculated that each A at rs1051730 increases a woman’s odds of continuing to smoke throughout her pregnancy by about 1.2 times.

The authors say their results show how genes can influence what is perceived by many to be a matter of self-control, but that “it’s in my genes” shouldn’t used as an excuse to avoid giving up smoking during pregnancy.

23andMe customers can check their data for rs1051730 using the Browse Raw Data feature.  This SNP is also featured in the Nicotine Dependence Research Report.  For more information, check out the following Spittoon posts related to this SNP:

• SNPwatch: Genetic Variation Linked to Smoking and Lung Cancer Might Also Raise Risk for COPD
• How A Person Smokes Might Affect Lung Cancer Risk
• SNPwatch: Two Vices, One SNP — Drinking and Smoking Behavior Both Linked to Nicotine Receptor Genes
• SNPwatch: Focusing on a Gene Variant that Might Help Counter Cigarette Cravings
• SNPwatch: “Environment” also genetic?

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