You may have already heard about a new feature 23andMe is offering its customers, called Relative Finder. With the launch of our new Ancestry Edition, we wanted to tell you more about it.

Don’t just settle for two branches of your family tree…

Relative Finder is a breakthrough feature that uses autosomal DNA to help you find relatives from all parts of your family tree. With Relative Finder, you can grow your family tree like never before, and discover relatives you never knew you had.

Relative Finder is available to people who buy the Ancestry or Complete Edition of the 23andMe service.

How is Relative Finder Different?

Until now, DNA genealogy tests could only tell you about a small part of your family tree, because they only used DNA from the Y chromosome and mitochondria. By using autosomal DNA, Relative Finder can trace any ancestor, no matter where they are in your family tree.

What’s so special about autosomal DNA? The autosomal chromosomes, which make up most of our DNA, have the unique property of randomly mixing in specific ways when passed down from parent to child. The result is that we are a mosaic of DNA segments that we inherited from our ancestors.

…With Relative Finder, find relatives from all branches of your family tree!

To give an example of the benefits of using autosomal DNA for learning about your ancestors, let’s consider your four grandparents. When looking at the Y chromosome (if you are male), you can trace your lineage through your paternal grandfather. When looking at the mitochondria, you can trace your lineage through your maternal grandmother. But this is only half of your grandparents! By using autosomal DNA, you can trace the lineages through all four grandparents. Extending this back 10 generations, instead of two ancestors detectable via Y and mitochondria, autosomal DNA can give you access to over 1000 ancestors and their descendants.

Relative Finder in Action

Relative Finder takes advantage of autosomal DNA by looking for shared segments with other 23andMe customers, which indicate a common ancestor. We list your closest matches first, but also let you sort and filter on other criteria you find important. Interested in relatives living abroad, or a particular Y or mitochondrial haplogroup? We can help you find them.

Take your time — users with European ancestry often have more than 100 matches, and users with Ashkenazi Jewish ancestry often have more than 1000! As the 23andMe database grows, you’re likely to get even more matches.

Once you’ve found an interesting match, you can take the next step and contact them directly. Go ahead: Introduce yourself to that fifth cousin who lives in Macedonia, or your ninth cousin who lives just down the street. With Relative Finder, you can discover more about your ancestry than you ever thought possible!

We Want You.

Up to now, we’ve been testing and tweaking Relative Finder extensively, both internally and with feedback from genealogy enthusiasts. Starting today, we are opening up that testing to all 23andMe customers who want the opportunity to experience Relative Finder. During the remainder of this beta period, participants can instantly contact any potential relatives also participating in the beta.

By participating in the Relative Finder Public Beta, you will get early access to this revolutionary new feature. In return, we hope that you will send us feedback, suggest improvements and — most importantly — share your success stories.

We hope you enjoy taking your family tree to a whole new level with Relative Finder. After all, you never know who you might find.

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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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More than a million Americans have Parkinson’s disease, and another 50,000 are diagnosed each year. Scientists know that many of the characteristic symptoms of Parkinson’s — tremors, rigid muscles and movement problems — can be traced back to the loss of dopamine-producing brain cells.  But what researchers don’t fully understand is why these cells are damaged in the first place.

For most cases of Parkinson’s, the brain cell damage is probably the result of  complex interactions between multiple genetic and environmental factors.  Despite years of work, however, hardly any of these factors are known.  But now two research groups have identified several genetic variants associated with the risk of Parkinson’s in Asian and Caucasian populations.  Their results were published online this week in the journal Nature Genetics.

One group, led by Wataru Satake, analyzed the DNA of 2,011 Japanese people with Parkinson’s disease and 18,381 controls.  The other group, made up of U.S. and German researchers (Simón-Sánchez et al.), looked at the genetics of 5,074 Caucasians with Parkinson’s and 8,551 without the disease.

Common variations in and around two genes previously associated with rare familial forms of Parkinson’s disease, SNCA and LRRK2, were associated with the risk for Parkinson’s in the Japanese study.  In the Caucasian study, the association with SNCA was strong, but the evidence for an association between Parkinson’s and common variation near LRRK2 was only suggestive.  Given that the association of mutations in this gene with familial forms of Parkinson’s is so strong, Simón-Sánchez et al. nevertheless think that there truly is a role for SNPs near this gene in non-familial forms of the disease.

(See the table at the end of this post information on all SNPs.)

Satake et al. also found that variations in a region of the genome not previously linked to Parkinson’s disease could affect risk for the disease.  This region of chromosome 1 contains several genes, and it is not yet clear which one might be involved in Parkinson’s.  Satake et al. named the region PARK16.  After comparing their data, the U.S./German group also found a link between Parkinson’s disease and the PARK16 region.

A SNP in the BST1 gene was associated with increased risk for Parkinson’s in the Japanese sample, but did not show any link to the disease in the Caucasian sample.  The risk version of this SNP, however, is found at very low levels in Caucasians.  This may have been why Simón-Sánchez et al. were unable to pick it up in their analysis.

Finally, a SNP in the MAPT gene, which has also been associated with familial forms of Parkinson’s, was associated with disease risk in the Caucasian sample, but not in the Japanese.

Work to find common genetic variations affecting the risk for Parkinson’s will no doubt continue as researchers try to identify all of the puzzle pieces relevant to this devastating disease and how they fit together.

“A further increase in the number and size of cohorts for [genomewide association studies] in [Parkinson's disease] will likely reveal additional common genetic risk loci and these, in turn will improve understanding and, ultimately, treatment of this devastating disorder,” conclude Simón-Sánchez et al.

SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.

Although variations in the some of the same genes were found in both the Caucasian and Japanese samples, the same SNPs often do not apply to the different populations. People looking up their own data should use the SNPs listed for the ethnicity they identify most closely with.

*Risk version is more common version of SNP.
**Results did not meet strict cut offs for statistical significance, but researchers suggest the associations are nonetheless real.

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Some people want to know everything their genetics can tell them, while others are interested in only part of the story.  That’s why starting next week, on Thursday November 19^th , we will begin offering our service as two distinct products to better meet the needs of our customers:  The 23andMe Ancestry Edition and The 23andMe Health Edition.  If you are interested in both the ancestry and the health aspects of your genetics, you’ll have the option of purchasing the combined 23andMe Complete Edition.

Prices for all versions of the 23andMe Editions will be changing November 19^th, but if you act quickly you can get our Personal Genome Service, which will automatically be converted to the Complete Edition, for the lower price of $399.

23andMe Ancestry Edition – $399

23andMe has always offered the most comprehensive look at your DNA ancestry.  With the 23andMe Ancestry Edition we will continue to provide maternal, paternal and autosomal ancestry information, but we’ll also be adding an exciting new feature: Relative Finder.  This innovative tool will allow you to grow your family tree like never before, and discover relatives you never knew you had.

The Relative Finder algorithm compares your SNPs to those of other 23andMe customers.  Using the frequency and length of shared DNA segments, we calculate whether there is a possible relationship between two people. What you’ll see is a list of these potential relatives (with their identity and yours kept anonymous) who you can then directly and anonymously contact.  Some of our early testers have already found new relatives and identified the great-great-great-great-great grandparent that they have in common!

To complement Relative Finder we’ll also be launching a new ancestry lab feature, Family Inheritance: Advanced.  This tool will allow you to look at your Relative Finder matches in more detail and trace segments of DNA across multiple generations.

Raw data browsing and download will be available only for Y and mitochondrial SNPs for customers who purchase the 23andMe Ancestry Edition.

23andMe Health Edition – $429

With 23andMe, you can use your DNA to help you plan for the important things in life.  We give you access to information on genetic variations and mutations that may influence your risk for various conditions, report carrier status for inherited diseases, or affect how you react to certain medications.

With the launch of the 23andMe Health Edition we are releasing 13 new carrier status reports.   These reports will help you know more about what may be in store for the next generation.  We are expanding our cystic fibrosis panel report to cover the full panel of mutations recommended by the American College of Medical Genetics, as well as several additional mutations.  We will also be providing data for most of the mutations routinely screened for in the Ashkenazi Jewish population, including those associated with Tay-Sachs disease, Canavan disease and Bloom’s syndrome.

We are also continuing to expand our drug response offerings.  The next report to come out, Pseudocholinesterase Deficiency, contains information for anyone who will be undergoing surgery.

23andMe’s scientists are constantly sifting through the scientific literature, adding to existing articles and creating new reports as genetic research advances.  Customers who purchase the Health Edition will have access to these regular updates.

Raw data access will not be available to customers who purchase the 23andMe Health Edition.

23andMe Complete Edition – $499

If you’re interested in seeing all your DNA has to offer, you can purchase the 23andMe Complete Edition.  You’ll get all the features of both the Health and Ancestry Editions, along with the ability to browse and download all of your genetic information.  This means you’ll be able to see what your data means in the context of the latest in genetic research through our regular SNPwatch posts here in The Spittoon.

Start with Health or Ancestry, Upgrade Later

You can always buy one version, either the Health or Ancestry Edition, and upgrade to the Complete Edition at a later date.  You won’t even need to spit again!

Upgrading from the Health Edition will cost $100.  Upgrading from the Ancestry Edition will cost $150.

Buy Now Before the Price Goes Up!

If you are a current customer, your account will be converted to the Complete Edition automatically.  Customers who purchase 23andMe’s Personal Genome Service before November 19^th for the current price of $399 will also automatically have their accounts converted to the 23andMe Complete Edition after that date — a savings of $100.  If you purchase now, you can also save $25 on each kit you buy when you buy two or more at full price.

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The most common type of arthritis, osteoarthritis, occurs due to accumulated wear and tear – welcome to old age! – or from repetitive movements or injury.  Rheumatoid arthritis, on the other hand, is caused by an autoimmune attack on the lining of the joints, resulting in stiffness, muscle aches, and general fatigue. Approximately two million people in the U.S. suffer from rheumatoid arthritis, and although women are affected more often than men, men tend to have more severe symptoms.

Research has identified a number of genetic factors that contribute to one’s risk of developing rheumatoid arthritis, and new studies continue to reveal more genes that seem to be involved in this complex disease. In a report published this week in Nature Genetics, a team led by Soumya Raychaudhuri and Robert Plenge of Brigham and Women’s Hospital in Boston describe three new genetic associations with rheumatoid arthritis risk.

Using a computational algorithm that incorporates information from the scientific literature, Raychaudhuri and his colleagues identified 22 candidate SNPs that have a large number of connections to previously validated genetic risk factors for rheumatoid arthritis. When they tested these SNPs in a set of almost 8,000 Caucasians with rheumatoid arthritis and 12,000 controls, seven emerged as highly significant associations. After combining this study population with that from a previous study – for a total of more than 11,000 individuals with rheumatoid arthritis and 22,000 without  – three of the variants rose to the top.

All three variants are in genes not previously linked to rheumatoid arthritis. Each copy of a C at rs1980422 and each copy of a G  at rs11586238 increased an individual’s odds of developing the condition by 1.13 times. Similarly, each copy of a C at rs548234 increased the odds of rheumatoid arthritis by 1.11 times.

(23andMe customers can see their data for the SNPs currently covered by 23andMe’s service by using the Browse Raw Data feature. 23andMe currently does not report on rs11586238, but does report on a SNP that acts as a perfect proxy for it, rs12405671. The A version of rs12405671 corresponds to the G version of rs11586238.)

These three SNPs are located near genes involved in the immune response, and, in some cases, near genetic variations that have been associated with other autoimmune disorders, such as Crohn’s disease and type 1 diabetes. Although a detailed, cohesive picture of the causes underlying rheumatoid arthritis remains elusive, each new association discovered by researchers contributes to our understanding of the biological players involved in this autoimmune disease.

SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.

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Cisplatin, a cancer chemotherapy drug first approved by the FDA in 1978, revolutionized the treatment of many types of cancer.  Despite its effectiveness, in many cases doctors are forced to reduce the drug’s dose, or abandon it altogether, due to serious side effects on patients’ hearing.

Between 10-25% of adults and up to 60% of children being treated with cisplatin suffer from severe, permanent hearing loss in both ears. This is particularly damaging in kids, because even mild hearing loss can negatively impact learning and social development.

Researchers have suggested that genetic variants that affect the metabolism of cisplatin might explain why some people are susceptible to drug-induced hearing loss, while other patients receiving similar doses are not.  A new report, published online this week in the journal Nature Genetics, has identified variants in two genes that appear to greatly increase the risk of cisplatin-induced hearing loss.  Although the study is a small one, if replicated these findings could one day help doctors make better decisions about how to prescribe cipslatin.

A team led by Colin Ross from the University of British Columbia analyzed the DNA of 162 children (mostly of European ancestry) treated with cisplatin, focusing their search for genetic variants associated with drug-induced hearing loss on 220 genes known to be involved in the absorption, distribution, metabolism and elimination of medications and their breakdown products.

The variants with the largest effects were found in the TPMT gene.  For example, having one or two Cs at rs1142345 increased the odds of cisplatin-induced hearing loss by 10.51 times, although this result was not statistically significant once the researchers adjusted their data to account for the number of SNPs investigated.

(A larger and statistically significant effect was seen with closely related TPMT SNP, rs12201199, that 23andMe does not currently provide data for.  23andMe customers can use the links in this post to check their data using the Browse Raw Data feature.)

Rs1142345, as well as other variants that reduce the function of the TPMT enzyme, have been associated with adverse reactions to a class of drugs called thiopurines that are used as chemotherapy agents and immune system suppressants.

A second SNP associated with cisplatin-induced hearing was rs9332377 in the COMT gene.  Having one or two Ts at this SNP increased the odds of hearing loss by 5.52 times.  This result was also not statistically significant after adjusting the data.

Other variations in the COMT gene have been associated with a variety of traits, including pain sensitivity, willingness to explore new options, recovery from heart surgery, anxiety, and decreased breast cancer risk in tea drinkers.

None of the SNPs identified in this study were associated with hearing loss in children not treated with cisplatin, suggesting that their effect is specific for drug-induced hearing loss.

“These findings suggest that it may be possible identify individuals at higher risk of cisplatin otoxicity [hearing loss] based on genotype, which would improve counseling and treatment options,” the authors write.

They suggest, for example, that children with the riskier versions of the variants identified in this study could be given lower doses of cisplatin or treated instead with carboplatin, a drug that shows nearly similar cancer cure rates as cisplatin, but has less tendency to cause hearing damage.

The authors acknowledge, however, that their results will need to be replicated in independent populations before any decisions about how to use information about these variants in clinical settings can be made.  Research is also needed to understand what, if any, role these variants play in cisplatin-induced hearing loss in adult cancer patients.

Note: Recent studies by other researchers showed that variations in the megalin gene, the GSTP1 gene and the GSTM1 gene were also associated with the risk of cisplatin-induced hearing loss.  The current report from Ross et al. failed to replicate these associations.

SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.

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The Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH) is an exceptional study that has the potential to transform medicine.  As someone who proudly spent over 25 years as a patient with Kaiser, I would be excited to see my family’s medical records used for such a worthy cause.  I was disappointed, however, to learn that Kaiser will not be giving participating individuals the option to get access to the genetic data Kaiser generates in the study, as I said in my recent TEDMED talk.  Yesterday, Cathy Schaefer, executive director of the RPGEH, commented on the Robert Wood Johnson Foundation blog that the research data will not be returned “because genetic information obtained through today’s genome-wide studies has not been designed to be useful to individuals; it is designed for use in research” (also noted by Genomics Law Report and Genetic Future).

I strongly disagree that one’s genome is currently only useful in research and not for individual use.   There are a number of highly useful genetic results that may be generated.  Individuals may learn that they are carriers for Mendelian disorders such as cystic fibrosis or sickle cell anemia.  The genetic data might reveal that an individual is at higher risk for certain diseases such as age-related macular degeneration, blood clots, Parkinson’s disease or breast cancer.  Last, the genetic data may tell an individual whether or not they are likely to respond to certain drugs, like Plavix and Coumadin.  Is it right for Kaiser to tell me what information I can or cannot have about my own body and my own genes?

I co-founded 23andMe, a personal genetics company, to enable individuals to access their genetic information—what we believe to be a fundamental right.  We also believe this right should extend to research participants.  Though the RPGEH plans to inform individuals if researchers discover something that “may be important to their health”, this is not the same as an individual having their complete data in hand, and it is unlikely that researchers would continue to update 100,000 participants as genetic research progresses.

Even if genetic research is at an early stage today, having one’s genetic data will be of increasing utility as research progresses.  Individuals have a vested interest in understanding what their genetic data mean in the context of new studies.  They may examine their data through 23andMe, other companies, or open-source services such as SNPedia.  The choices about what to do with that information are then with the individual, where they should be.

My husband, Sergey, learned through the 23andMe test that he is at substantially higher risk for Parkinson’s disease. That information has had a significant impact on our lives.  We eat better and we exercise more.  We are motivated to follow, participate in, and fund Parkinson’s research.  This information is important for understanding our general health and for helping us plan our lives.  Some in the medical world do not believe we should have this information.  In fact, when the Parkinson’s variant was discovered, we were dissuaded from being tested because “there is nothing to do.”  But there are things one can do, and that choice should be ours.

A growing body of evidence suggests that individuals do not suffer adverse effects from knowledge of their genetic data, and that public opinion leans strongly toward offering the return of results to research participants.  For example, in a study of focus groups, the Genetics & Public Policy Center found that “focus group participants voiced a strong desire to be able to access individual research results.”  And far from frightening people, returning genetic results could provide an incentive for future recruitment into these important studies.  Whole-genome information would also be useful to the growing number of people interested in genealogy.

We also believe that researchers cannot know—and therefore should not dictate—what is or isn’t useful to individuals.  Even for “non-actionable” variants with severe consequences such as the ApoE e4 association with Alzheimer’s disease, research from the REVEAL studies at Boston University showed individuals may find personal utility in having their data.  For example, they may choose to prepare their family, buy long-term care insurance, or participate in research—these are choices individuals and families have a right to make with knowledge about their own health.

Kaiser is breaking new ground with the RPGEH study but we believe they are missing a key component.  Kaiser should afford the participants the respect they deserve by allowing them to decide for themselves whether they want to see their own genome.

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The “stomach flu” isn’t really the flu at all. It’s actually viral gastroenteritis, and its most common cause is a group of viruses called noroviruses. No matter what you call it, the illness is highly contagious and very unpleasant — symptoms include abdominal pain, vomiting, and diarrhea. In close quarters, a norovirus outbreak can quickly spread from person to person, earning the sickness the nickname “cruise ship disease.”

Norovirus is such a problem on cruise ships, in fact, that the Centers for Disease Control and Prevention (CDC) has a Vessel Sanitation Program in place to help control outbreaks.  But the results of a new study, published in this month’s issue of the journal Clinical Infectious Diseases, shows that even stricter criteria for cleanliness may be in order.

Analysis of data from 56 cruise liners evaluated between 2005 and 2008 shows that only 37% of 8,344 toilet area objects (toilet seat, flush handle or button, toilet stall inner handhold, stall inner door handle, restroom inner door handle and baby changing table surfaces) in 273 randomly selected public restrooms were cleaned on a daily basis.  More than half of the ships had overall “thoroughness of disinfection cleaning”  (TDC) scores less than 30%.  Several of these low-scoring ships had nearly perfect CDC sanitation scores.  TDC scores were substantially lower for the three ships that had a norovirus outbreak within four months of evaluation compared to those ships that did not.

Why bring this up in the Spittoon?  A lucky few have less to worry about when planning a seafaring vacation: variation in the FUT2 gene renders some people resistant to the most common strain of norovirus.  Check out the 23andMe Norovirus Resistance Report to learn more!

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New research suggests that your skills behind the wheel may be affected by your genes.

To better understand the effects of a variant in the BDNF gene on motor skills learning, Steven Cramer and colleagues at UC Irvine tested 29 subjects in a driving simulator. Their results, published in the journal Cerebral Cortex, might make you think twice about whom you go on your next road trip with.

Subjects sat in front of a screen with their hands firmly planted at “10 and 2″ on a steering wheel and guided their “car” around a track, attempting to stay centered over a black line. The steering was tuned so that subjects had to begin turning before the screen actually changed.

Over the course of 15 trials, all of the study subjects got better at the driving task. But the seven people who had a T rs6265 improved less than those with two Cs. When subjects returned to the lab four days later for a final lap, everyone had forgotten how to drive the simulator a little bit, but those with a T did worse.

“These people [with a T at rs6265] make more errors from the get-go, and they forget more of what they learned after time away,” Cramer said in a press release.

(23andMe customers can check their data for rs6265 using the Browse Raw Data feature.)

The BDNF protein helps to regulate how nerve cells make new connections and maintain old ones. The T version of rs6265, also known as the Val66Met variant, reduces the amount of BDNF available in the brain and has been linked to impaired learning and memory. Studies have shown that stroke victims with this variant don’t recover as well as those who lack it.

But there may be an upside: the variant seems to have a beneficial effect on cognition in people with Parkinson’s disease, Huntington’s disease, lupus and multiple sclerosis.

“It’s as if nature is trying to determine the best approach,” Cramer said. “If you want to learn a new skill or have had a stroke and need to regenerate brain cells, there’s evidence that having the variant is not good. But if you’ve got a disease that affects cognitive function, there’s evidence it can act in your favor. The variant brings a different balance between flexibility and stability.”

See Wired Science for more.

SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.

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Medco Health Solutions, Inc., announced this week that it will conduct a clinical trial to assess whether clopidogrel bisulfate (Plavix®, Bristol-Myers Squibb and Sanofi-aventis) is just as effective as the newer drug prasugrel (Effient™, Eli Lilly and Company) in people who lack a genetic variation that inhibits their metabolism of clopidogrel. This new research has important implications for both patient safety and health care costs.

Both clopidogrel and prasugrel are anti-platelet medications that reduce the ability of blood to form clots. The drugs are used to reduce the risk of a heart attack and stroke in people who have suffered from a recent cardiovascular event, and in those who have peripheral artery disease, unstable angina or a stent.

Variations in the CYP2C19 gene that prevent clopidogrel from being converted into its active form in the body have been shown to prevent patients from receiving the drug’s full benefit. People with these gene variations who are taking clopidogrel may be at a higher risk for heart attacks, strokes and death from cardiovascular causes than those whose genetics allow them to metabolize the drug.

(Prasugrel is metabolized through a different biological pathway than clopidogrel, and is not affected by CYP2C19 variants.)

23andMe customers can see their data for several important CYP2C19 variations in the ‘Clopidogrel (Plavix®) Efficacy’ Clinical Report.

Medco’s study will assess patients’ rates of nonfatal heart attacks, nonfatal strokes and cardiovascular deaths after six months of treatment with either clopidogrel or prasugrel. Researchers will be looking to see if there is any difference between those patients who are taking clopidogrel, and whose genetics predict that they should be able to metabolize it—and those patients who are taking prasugrel.

“Plavix is going generic in 2011 and if found to be equally effective as Effient for patients who have a normally functioning version of the CYP2C19 gene, the study provides the evidence that would allow these patients to opt for a lower cost treatment,” said Medco’s chief medical officer Dr. Robert Epstein in a press release.

Former U.S. Secretary of Health and Human Services Michael O. Leavitt was quoted in the Medco press release as saying, “Studies like this are necessary to show how innovation can derive greater value from what we spend on health care.  A simple test can identify a drug’s ability to work for a particular patient or point them to another one that could provide a better outcome. Personalized medicine is the new frontier in making medication safer and more effective. What we learn from this study, and others like it, will save lives and money.”

Patients aren’t the only ones who would save if Medco’s research shows that the soon-to-be generic clopidogrel is an effective choice for them. An Associated Press story notes that generic drugs are more profitable for Medco than higher-priced brand name products.

Comparative effectiveness research has received a lot of attention in the United States health care debate lately.  Some worry that it will result in policies that are not in patients’ best interests.

“We need to be mindful of the goal of comparative effectiveness research and not lose all that we have gained in understanding how individuals differ and how that could be factored into better diagnostics and preventive strategies,” said National Institutes of Health (NIH) director Francis Collins, speaking at a recent American Association for the Advancement of Science forum on personalized medicine.

Collins recommended that genetic factors be included in comparative effectiveness research (as is the case in Medco’s study), to make sure that treatments that work for specific groups of patients are not “lost in the wash by considering everybody equivalent.”

The Genotype-Guided Comparison of Clopidogrel and Prasugrel Outcomes Study (GeCCO) is part of Medco’s “Genetics for Generics” program and is registered with the NIH.

Related Spittoon Posts:
More Evidence that Genetics Can Reduce the Efficacy of Anti-Clotting Medication Clopidogrel
SNPwatch: Genetic Variants May Reduce Ability of Anti-Clotting Drug Clopidogrel to Prevent a Second Heart Attack

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