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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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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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Biology has changed a lot over the past 150 years. Scientists have discovered entirely new forms of life, deciphered the molecular code of heredity and observed the machinery of life on the smallest dimensions. And through it all, one scientific theory has stood the test of time.

New discoveries in genomics, medicine, developmental biology, and countless other fields could have derailed the the theory of evolution. But the core principles of evolutionary theory, proposed by Charles Darwin 150 years ago, have remained among the strongest explanations of the natural world ever published.

In honor of Darwin Day 2009, which celebrates the 200th anniversary of Charles Darwin’s birth and the 150th anniversary of the publication of his seminal work, On the Origin of Species, we’d like to take a look at how evolution has itself ‘evolved’ over the decades — how new advances in science and technology have both reinforced Darwin’s original idea and given us insight into the inner workings of the theory that explains so much about the world in which we live.

In 1859, the phrase ‘evolution by natural selection’ was already beginning to make the rounds among the scientific elite in Europe and in America.  This was the year Darwin published On the Origin of Species, and his ideas about how species change over time were causing heated debate among the experts.  But Darwin didn’t invent the idea of ‘evolution’ (that is, the idea that species change over time).  What he brought to the table was an explanation of how species change, a process Darwin called ‘natural selection.’  On his famous journey to the Galapagos Islands 25 years earlier, Darwin had witnessed unique variation in hundreds of species.  As he pored over his notes for the next two decades, Darwin pieced together the notion that species must adapt to environmental pressures (like changes in climate or a volcanic eruption), in order to survive.  If they did not adapt to these pressures, then they may not survive.  It was natural selection, Darwin argued, that was the basis for the vast differences we see in plant and animal species across the globe.

But there was a lot that Darwin did not know when he published his ideas of evolution.  He did not know, for instance, how changes in a species’ appearance (a longer beak, a bigger shell, or a thicker coat of fur) are passed down from generation to generation.  The idea of discrete units — ‘genes’ that are passed down from parents to children — had not even occurred to Darwin, nor to most of the other scientists of the time.  Even when, in 1866, an Austrian monk named Gregor Mendel reported his ideas on patterns of inheritance in pea plants in the obscure Proceedings of the Natural History Society of Brünn, few took notice.

In fact, the word ‘genetics’ wasn’t coined until 1905, by biologist William Bateson. Bateson, who is sometimes credited with ‘rediscovering’ the lost works of Mendel, helped to usher in a new wave of research and discovery — this time looking at how species differ from each other at the molecular, or genetic, level.  Bateson’s push for the use of genetics in evolutionary research reached fruition in 1952, when Cambridge scientists James Watson and Francis Crick decoded the structure of DNA. Soon others discovered how specific genes are passed down from generation to generation, and how changes in our genetic code are connected to changes in species.  As each new genetic discovery allowed us to better understand the natural world at a microsopic level, Darwin’s theory of evolution by natural selection was continually reinforced.

The evolution of our species, Homo sapiens, forms the basis for virtually everything we can learn from 23andMe’s Personal Genome Service^TM.  The signature of millions of years of evolution is present in every person’s genome, and often in our physiology, rendering some of us resistant to malaria, others unable to digest milk, and even causing some to have lower risks of cancer or other diseases.  As advances in science and technology continue to bring us more information hidden within our genes, we can be thankful that 150 years ago, an amateur naturalist from Shrewsbury, England, boarded a ship bound for South America and began piecing together the evolutionary story of not just our species but of all life on earth.

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It’s been an exciting seven months since we launched 23andWe, the arm of 23andMe that gives people an unprecedented opportunity to collaborate with us on cutting-edge genetic research. Since May, the amount of data we’ve collected has grown at a fast and furious pace. For those of us who are used to the difficult and painfully slow accumulation of data in academic research projects, this information explosion has been nothing short of amazing.

From our first baby steps with “Ten Things About You” in May, to our three latest surveys — “Health Habits,” “Where Are You From?” and “What Do You Do?” — 23andWe has undergone some serious evolution. Almost every month, we have published more surveys and developed more features to help make the survey-taking experience simpler, more interesting, and more rewarding. We want to make it easy for our customers to provide truthful, good quality data, as that is the first and most important step towards doing high quality research. A big thank you to all our survey takers—we pledge to constantly work on improving this feature so we can keep you coming back for more.

We’re starting to look at genetic associations with the traits we ask about in our surveys, and we expect to have some exciting ones to report soon. But we’ve already learned some interesting things just by looking at the survey responses themselves. For example, while a few sources suggest that a higher percentage of men are left-handed than women, our data so far suggest that once you control for age this is not the case. It seems like our society is becoming more accepting of us female lefties! We’ve also seen that handedness does indeed significantly correlate with footedness. That is, left-handers are more likely to be left-footed, and right-handers are more likely to be right-footed. Similarly, handedness significantly correlates with ocular dominance, as left-handers are more likely to be left-eye dominant, and right-handers are more likely to be right-eye dominant.

And proving mom right once and for all, we’ve found that a sweet tooth does lead to more cavities. After controlling for sex and age, you’re more likely to report having many cavities (as opposed to few or none) if you reach for either something sweet or something sweet and salty when it’s time for a snack.

How is this kind of information going to usher in the era of personalized medicine? Handedness may seem like a relatively trivial trait, but it is correlated with risk for learning disability, schizophrenia, exceptional mathematical talent and other relevant traits. Understanding the biological underpinnings of what makes us choose one hand over the other for all our most delicate tasks may help us better understand the basis for these other complex traits.

As 23andWe matures we plan to start focusing more directly on health-related traits. Look for surveys in the very near future that ask about various medical conditions whose genetics is not yet understood. By combining the information customers provide in their survey responses with data from our custom chip, we can look throughout the genome for DNA variations linked to many different traits. This method can help us find genes that no one thought would be involved with a particular condition. For example, genome-wide studies on age-related macular degeneration (a leading cause of blindness) recently surprised researchers by identifying associations with genes that make components of the innate immune system. This gave scientists a whole new pathway in which to search for treatments.

We can’t guarantee that we’ll find something useful or interesting with every analysis that we do; science is a game you have to play a lot of times in order to win. But we can guarantee that we will strive to do the best research and that we will share our findings with the scientific community. By contributing to the body of knowledge on human genetics, we believe we can help bring the dream of personalized medicine a few steps closer to reality.

And all we need you to do is take some surveys.

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Every year more than two million Americans take part in clinical trials. Many may not realize when they sign up that there is no requirement for the investigators running the trial to ever tell them the results.

The same goes for many genetic studies. In fact, there is often a specific prohibition against re-contacting participants once their samples have been taken.

At the very least, not informing participants of study results seems disrespectful of those who give of themselves to benefit medical research. More worrisome, it can mean that trial volunteers are missing out on the chance to learn information that could be important to their health.

Changing the way research is done is no simple task. But researchers at the University of Rochester Medical Center studying an experimental Huntington’s disease drug have shown that using a combination of targeted electronic communications and personal outreach can be a very effective way of disseminating clinical trial results to volunteers.

After analysis of the drug trial results was completed (it turned out to have no effect) the researchers contacted participants by email and through various Huntington’s disease support groups and called them on the phone personally. There was also a teleconference in which study participants were able to ask the investigators questions.

Their results, published in the December issue of the Archives of Neurology, showed that within 24 hours almost half of the study participants were able to learn the results of the trial. They reported finding great value in receiving personalized and accurate information from the research team.

In the November issue of Genetics in Medicine, researchers from the Genetics and Public Policy at Johns Hopkins University showed just how hungry people are for their results.

In a survey of more than 4,600 people asked to consider whether or not they would take part in a large nationwide genetics study of 500,000 people, researchers found that three out of four people would be less likely to participate if they knew they would not receive their individual research results.

A project of the scale proposed in the John Hopkins survey could probably not rely on personal phone calls to inform participants of their results. The University of Rochester team benefited from having only a few hundred subjects who needed to be contacted. But emails and posting on websites could certainly be used to satisfy subjects’ demand for information.

“This eagerness suggests that researchers may have to look for practical ways to return results, and abandon the paternalistic stance of protecting people from their research data,” the Johns Hopkins researchers wrote.

We couldn’t agree more. That’s why we started 23andWe, a new way of doing genetic research in which we hope to mobilize our customers as collaborators, advisers and participants.

Sometimes we’re able to return results right away. By answering just a few questions you can find out if you’re an optimist or right-footed – and how you compare to everyone else who’s taken the survey.

But in addition to being interesting and fun, 23andWe surveys are designed to collect important data for scientific research. We can’t know where this will lead us, but we do know that you will want to see how your data is making a difference. That’s why we’ll share the results of all the research we’re doing and how your contributions are making an impact.

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I’m a bad patient.

Every time I go to a doctor she asks, “Do you have a family history of any diseases?”

I’m ashamed to say that my answer is always “I don’t think so.”

Your family health history is a powerful tool for your doctor; it can help him or her make vital screening and treatment decisions. Yet a recent survey (Porter Novelli Healthstyles 2004) found that although 96% of Americans recognize the importance of their family history, only 33% have ever tried to gather and organize this data for themselves.

23andMe helps people see what their DNA might have to say about a host of common and not-so common diseases and conditions; but we don’t want anyone to think that purchasing our Personal Genome Service™ is a substitute for a detailed family health history.

For example, the effect of the SNPs 23andMe reports on for breast cancer pales in comparison to that of mutations in the well-known BRCA1 and BRCA2 genes, which run in families and can increase a woman’s breast cancer risk three- to seven-fold (23andMe does not report data on these mutations). So even if your 23andMe data says that you have average or even below-average risk for breast cancer, a strong family history of the disease indicates the strong possibility of a genetic mutation that trumps the information we have gleaned from your SNPs.

In other cases, your family health history might dovetail with your 23andMe data, giving a fuller picture of, and perhaps increasing, your predicted risk for a certain disease. For example, a report published just last week in the Journal of the National Cancer Institute showed that a SNP recently associated with lung cancer (customers can see their data in Health and Traits) has a significantly larger effect in people where three or more first-degree relatives have been diagnosed than in people who develop a sporadic case of the disease.

The bottom line: It is very helpful to be aware of your family health history and share it with your medical provider. Here are a few resources to help you get you started:

• The U.S. Surgeon General’s Family History Initiative
  For the past four years the Surgeon General has designated Thanksgiving, a time when families naturally gather together, as National Family History Day. You can use the online tool “My Health Portrait” to help guide you in collecting your own family’s health history. (Also available in Chinese, Polish, Spanish, French and Portuguese from the Brigham and Women’s Hospital National Family Health Initiative Website.)

• The Genetic Alliance
  Links to sites that can help with collecting a family health history, including resources for family reunion organizers who want to incorporate this into their next gathering.

Mom, get ready for some questions.

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