<img loading="lazy" decoding="async" class="aligncenter wp-image-4273 size-full" title="blooddonation" src="http://35.88.189.111/wp-content/uploads/2009/08/blooddonation.jpg" alt="A photo of a woman giving blood." width="350" height="232" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/08/blooddonation.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/08/blooddonation-300x199.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />Simply giving blood is one of the best ways to treat iron overload.
It’s the most common genetic disease you never heard of.  <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">Hemochromatosis</a>, sometimes called the “Celtic Curse,” affects an estimated one in every 300 Americans, but many who have it have no idea they do.
<h2>Serious Medical Condition</h2>
July is National Hemochromatosis Month, and 23andMe will highlight stories and research related to this genetic disease, which can quietly lead to iron overload – a serious medical condition – over time. Some people may never know they have the problem because the symptoms often appear later in life – between the ages of 40 and 60 in men and after menopause in women.
However, iron overload can cause severe damage to the liver, kidney, heart, and other organs. When iron levels in the body become dangerous, lowering those levels can be done relatively simply by having blood drawn regularly. Changes in diet can also help maintain safe levels and avoid the problems caused by chronic high levels of iron.
<h2>Hereditary Hemochromatosis</h2>
There are several forms of hereditary hemochromatosis. 23andMe currently reports on two of the most common genetic variants in the HFE gene that can lead to the condition – C282Y and H63D. Mutations in other genes can cause other kinds of hereditary hemochromatosis.
Up to 90 percent of those with hereditary hemochromatosis have two copies of the most severe variant in the HFE gene – C282Y – and they are at the highest risk of developing iron overload. Not everyone develops symptoms, and environmental factors also affect iron levels. Individuals with one copy of the C282Y variant and a second milder variant in the HFE gene are also at some risk for iron overload, though they are less likely to end up with organ damage.
The Centers for Disease Control notes that early disease detection is important, but diagnosing it can sometimes be challenging. Knowing your family history and whether you have a genetic risk for the disease can help you and your doctor decide whether you should be more proactive in screening for the condition, which can be easily managed.

23andMe Blog

23andMe Blog Team

The Most Common Genetic Disease

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Your doctor undoubtedly knows quite a lot. She went through four grueling years of medical school, passed a rigorous set of board exams, and completed at least one intensive residency in her specialty.
What may surprise you, however, is that she may not know much about pharmacogenetics, the study of how genetic variation affects drug response. Fortunately, she may recognize that this new field is quickly becoming an important part of medicine.
<h2>Perceptions of Pharmacogenetics</h2>
Felix Frueh, vice president of Medco Health Solutions and recently featured on our <a href="../articles/a-prescription-for-personalizing-medicine/">blog</a>, joined other scientists to survey physicians across the United States on their perceptions and use of pharmacogenetic testing.
This survey, the first large-scale assessment of pharmacogenetic attitudes and practices in the medical community, aimed to reach physicians across various ages, geographic locations, training backgrounds, and specialties.  They sent nearly 400,000 surveys, and approximately 3% were returned. After analyzing these thousands of responses, Frueh and his coworkers <a href="https://www.ncbi.nlm.nih.gov/pubmed/22278335" target="_" rel="noopener noreferrer">published</a> their findings in Clinical Pharmacology and Therapeutics last week.
<h2>A Knowledge Gap</h2>
The survey-based study simultaneously revealed an interest in and a lack of pharmacogenetics knowledge.
Almost every doctor who responded (97.6%) believed that genetic variation may influence drug response. This, however, stood in contrast to the small fraction of physicians (10.3%) who felt they had been adequately trained in pharmacogenetics. Fewer than one in three doctors had received formal field training.
According to the survey, most doctors primarily get their information about genetic testing from coworkers, drug labels and the Internet.  Not surprisingly, these doctors, many of whom felt under-trained and/or uncertain about the validity of the currently reported associations, did not use genetic testing very often.
Only about 13% said that they had ordered a genetic test for a patient in the last months; surprisingly, twice this number expect to order one in the next six months.  This projected increase in test orders may indicate a growing appreciation for the potential benefit of pharmacogenetic testing.
<h2>An Opportunity</h2>
Although the survey results indicate that most doctors do not regularly use genetic testing, the study did provide insights into which ones do.
As one might expect, doctors who received training in pharmacogenetics were about 1.6 times more likely to be early adopters of genetic testing. In addition, oncologists and surgeons (doctors in fields where pharmacogenetic testing is better established) were more likely to use genetic testing than general or family practitioners.  Furthermore, doctors in private practices were more likely to be early adopters than those working in a hospital or HMO.  A
ge and gender were not significantly associated with being an early adopter. However, physicians who had graduated from medical school 15-29 years ago were more likely to be early adopters than those who graduated more than 30 years ago.
<h2>Reimbursement Question</h2>
The growing popularity of genetic testing among physicians raises the question of who will pay for these new diagnostics. The doctors’ almost unanimous answer to this quandary was the health insurers. About a third of the responders felt that insurers- private, state, or federal- should provide full coverage for pharmacogenetic testing. Close to two-thirds felt insurers should provide full coverage in some situations. Indeed, approximately 9% of the doctors cited lack of insurance coverage for one of the primary reasons for not ordering tests.
Dr. Frueh and his coworkers acknowledge a potential bias in their study: the doctors most familiar with pharmacogenomics testing are also the doctors most likely to respond to a volunteer survey about pharmacogenomics.
The researchers, therefore, suggest that the actual percentages of doctors who received formal pharmacogenomic training and who regularly use genetic testing may be even lower than that predicted from the surveys.    Their conclusions from this study, especially in light of this potential bias, underscore the need for better pharmacogenetic education in the medical community.

What Does Your Doctor Know About Genetic Testing For Drug Response?

Editor&#8217;s note: This post has been altered from the original. The slides from the presentation have been removed.
23andMe, like many others, believes that individuals have a right to access their own genetic information and that personal genetics will pave the way for significant advances in healthcare. These beliefs fueled the development of our direct access <a href="https://www.23andme.com/howitworks/" target="_blank" rel="noopener">Personal Genome Service</a> ® &nbsp;and <a href="https://www.23andme.com/research/" target="_blank" rel="noopener">23andWe</a>, our web-based, participant-driven research platform. As for any other new industry
<img decoding="async" class="alignright size-full wp-image-6586" title="23andMe_Logo_blog" src="https://blog-api.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg" alt="" width="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2010/05/23andMe_Logo_blog-271x271.jpg 271w" sizes="(max-width: 350px) 100vw, 350px" />
or technology, however, there are concerns about the validity, accuracy, and applicability of the services and information that companies in the direct-to-consumer genetic testing industry provide. 23andMe supports thoughtful regulation that ensures consumers receive high quality information and enables, rather than inhibits, innovation.
Over the next two days, the FDA is hosting an Advisory Panel Meeting to address a number of questions related to clinical genetic tests that are marketed and provided directly to consumers. The FDA will be hearing the ideas and perspectives primarily of the Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee, which include voting members and temporary members added for this meeting. In addition, the FDA has invited several speakers to present background information and their views on this topic, and has provided for one hour each day for public comment.
It is during the public comment period that 23andMe will be giving two presentations. This afternoon, 23andMe’s General Counsel Ashley Gould will speak about our position on the subject matter the panel will be addressing as well as our broad requests for the panel’s consideration. 23andMe’s Senior Director of Regulatory Affairs &amp; Quality Assurance, Rose Romeo, will present tomorrow afternoon on considerations for risk mitigation and thoughts on regulatory frameworks moving forward. Slides from both of their presentations can be viewed below. The agenda and other background material are available at the FDA website, including <a href="http://www.regulations.gov/#!docketDetail;dct=PS+N;rpp=10;po=0;D=FDA-2011-N-0066" target="_blank" rel="noopener">public comments</a>.
Much of the complexity in discussing regulation of genetic testing stems from the brisk evolution of technologies in this area. The first draft sequence of the human genome was first published only 10 years ago, and companies are now sequencing full genomes on demand at increasingly affordable prices. In our presentations, we take the position that all genetic testing services, whether ordered by a physician or offered through direct access, should adhere to the same standards. We simultaneously request that the FDA consider redefining and establishing regulatory standards, including some fundamental definitions, to accommodate large-scale genetic testing and support innovation of its technologies and applications. We also request that regulation be based upon evidence and not fear of potential harm to individuals which, to date, has not been demonstrated. In fact, growing numbers of participating individuals and independent studies focused on this issue provide preliminary evidence that the vast majority of people understand the information presented and experience no significant negative effects.
23andMe has been proactively collaborating with the FDA and remains committed to finding a path forward that benefits everyone. The addition of Rose Romeo to our team, who has extensive regulatory experience and is eager to help us forge that path, attests to the strength of that commitment. We look forward to working together with a wide variety of agencies, organizations, and the medical community at large to establish the regulatory and functional frameworks that will ensure consumers and healthcare professionals have access to genetic information that is clear, useful, and engaging.

23andMe Presents at FDA Advisory Panel

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Today at the American College of Cardiology conference in Atlanta, researchers from the Mayo Clinic and Medco Health Solutions, Inc., presented results showing that using genetic testing to guide dosing of the commonly used blood thinner warfarin reduces hospitalizations.
Overall there were 31% fewer hospitalizations within six months of beginning warfarin therapy in those who received genetic testing compared to those who didn&#8217;t. A 28% drop in hospitalizations due specifically to bleeding or blood clots was seen.
&#8220;Warfarin represents an excellent example of how to take the modern science of genetic testing and apply it to making an older drug more effective and safer to use,&#8221; said Dr. Robert S. Epstein, lead author of the study and Medco&#8217;s chief medical officer and president of the Medco Research Institute, in a press release.  &#8220;These results show that we can greatly reduce hospitalizations, and their significant costs, by making genetic testing routine early in a patient&#8217;s therapy with warfarin.&#8221;
Although a variety of factors influence a patient&#8217;s ideal dose of warfarin, variations in the CYP2C9 and VKORC1 genes play an important part.   The FDA has mandated that information about these variants be included in the labeling information of the medication since 2007.   In February of this year they <a href="https://blog.23andme.com/2010/02/04/fda-updates-label-on-commonly-used-blood-thinner-to-include-dosing-recommendations-based-on-genetics/" target="_blank" rel="noopener noreferrer">updated the drug&#8217;s label</a> to include specific dosage recommendations.
Genetic testing before administration of warfarin, however, is not mandatory.   There has been significant disagreement over whether or not health outcomes are actually impacted when genetic information is available to physicians.   In fact, the Centers for Medicare and Medicaid Services, the federal agency that makes decisions about what Medicare, Medicaid and the Children’s Health Insurance Program will cover, decided last year that there was not sufficient evidence to justify covering genetic testing before warfarin administration for Medicare beneficiaries.  It will be interesting to see if the new study, which will soon be published in the Journal of the American College of Cardiology, will change this stance.
<a href="http://www.theheart.org/article/1058617.do" target="_blank" rel="noopener noreferrer">theheart.org</a> has more on this story, including comments from researchers critical of the research.   The PowerPoint slides used in the researchers&#8217; presentation are also available for download. (Free registration required)

Genetic Tests Can Reduce Risks From Blood Thinner Warfarin

<img loading="lazy" decoding="async" class="alignright size-full wp-image-2489" title="stevenpinker1" src="https://blog-api.23andme.com/wp-content/uploads/2009/01/stevenpinker1.jpg" alt="" width="350" height="233" srcset="https://blogcms.23andme.com/wp-content/uploads/2009/01/stevenpinker1.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2009/01/stevenpinker1-300x200.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
For an insightful and thought-provoking essay on the present and future of personal genomics, as well as the role that 23andMe is playing in its advancement, check out Steven Pinker&#8217;s essay &#8220;<a href="https://www.nytimes.com/2009/01/11/magazine/11Genome-t.html?em" target="_blank" rel="noopener">My Genome, My Self</a>&#8221; in this week&#8217;s New York Times magazine.
Pinker, who is a 23andMe customer himself and also a participant in <a href="http://arep.med.harvard.edu/gmc/" target="_blank" rel="noopener">George Church&#8217;s</a> <a href="http://www.personalgenomes.org/" target="_blank" rel="noopener">Personal Genome Project</a>, recommends taking genetic data with a grain of salt. Because as we often point out on The Blog, genetics is not fate and the science is still evolving.
Pinker, for example, has discovered that he has a genetic variation that increases his chances of going bald. Considering the man&#8217;s trademark thick and curly tresses, that one genetic toggle is not the whole story.

Pinker recommends personal genomics if you&#8217;re curious about how the countless genetic discoveries that are being made almost daily may apply to you personally, and might be relevant to your health down the road. And, we might add, becoming part of the 23andMe community also gives you the opportunity to help advance genetic <a href="https://www.23andme.com/research/" target="_self" rel="noopener">research</a> into diseases, conditions or traits that interest you. Combined with our community features, which let you find people with whom you share elements of nature AND nurture, personal genomics has great potential to become a tool not just for utilizing scientific advancements but making new ones as well.
As Pinker makes it clear however, personal genomics is not about to supplant, or even supplement, preventive medicine any time soon. &#8220;If you want to know whether you are at risk for high cholesterol, have your cholesterol measured,&#8221; he rightly recommends. (For some other takes on the Pinker piece and the state of personal genomics, check in with our colleagues at Gene Expression and Genetic Future.)
One of the most fascinating, albeit technical, parts of the essay is Pinker&#8217;s prediction that personal genomics will have more success elucidating the genetic underpinnings of personality than intelligence. Assuming from an evolutionary standpoint that it&#8217;s better to be smarter (it also kind of depends on how you define intelligence, but we won&#8217;t dwell on that), then over the millennia natural selection has done the work of deleting any genetic variations that substantially decrease intelligence but left intact hundreds or thousands that have negligible influence. Thanks to their tiny effect, those variations will prove very difficult to identify.
Evolution appears to foster large personality differences, on the other hand, because different types of people tend to thrive as the environment changes. Consider the recent history of the world&#8217;s financial markets – it&#8217;s easy to see how both pessimists and optimists could do well, though not necessarily at the same time. And it&#8217;s also easy to see how the number of bulls and bears could oscillate as first one side, then the other, got the upper hand. If you&#8217;re smart (and lucky) enough, you can make money in the market using either approach.
Evolutionary biologists call it balancing selection when two opposing traits are maintained in this way. And geneticists have had considerable success identifying genetic variations that have been subject to balancing selection, just as they have ones that make some people more adventurous, or prone to depression.
&#8220;It’s still a messy science, with plenty of false alarms, contradictory results and tiny effects. But consumers will probably learn of genes linked to personality before they see any that are reliably connected to intelligence,&#8221; Pinker contends.

DTC Genetic Testing — Page 3

The Most Common Genetic Disease

What Does Your Doctor Know About Genetic Testing For Drug Response?

23andMe Presents at FDA Advisory Panel

Genetic Tests Can Reduce Risks From Blood Thinner Warfarin

Steven Pinker on Personal Genomics

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