Bethann is a Health Content Scientist at 23andMe and regular contributor to the Blog. The following is her story about finding out she has a genetic condition that puts her at risk for iron overload.
<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-14551" title="photo" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/photo1-300x194.jpg" alt="" width="300" height="194" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1-300x194.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1-768x498.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1-1024x664.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1-880x570.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1-1180x765.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2012/07/photo1.jpg 1580w" sizes="auto, (max-width: 300px) 100vw, 300px" />
When I received my 23andMe results my initial reaction was that of relief and curiosity – only slightly increased risk for heart disease, heightened ability to taste bitter food, and slow metabolizer of caffeine. This all seemed reassuring and interesting until I discovered that I’d also inherited two mutations for <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">hereditary hemochromatosis</a>, also known as iron storage disease.
At first, I didn’t know what this meant for my health. My particular combination of mutations – one severe C282Y mutation in the HFE gene (a gift from my mother) combined with the much rarer and less severe S65C mutation (courtesy of my father) – only posed a slight risk for developing iron overload. And being a pre-menopausal woman lowered my risk profile even further because women naturally lose iron through menstruation.
Still, I decided to share the information with my physician to see if follow up testing was warranted. She ordered transferrin saturation and serum ferritin tests, which together provide a good picture of iron absorption and storage in the body, and the results revealed that my transferrin saturation was too high (54%). This result didn’t point to overload per se, but it did prompt me to take a step back and look at my lifestyle.

<div style="float: right; text-align: justified; width: 200px; padding: 15px; border: 1px solid #ccc; margin-left: 10px;"><a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis/">Hemochromatosis</a> affects an estimated one in every 300 Americans of European ancestry, but many who have it are unaware. Undiagnosed it can quietly lead to iron overload – a serious medical condition. Early detection of the condition is important  – knowing your family history and whether you have a genetic risk for iron overload can help you and your doctor decide whether further  testing is warranted. Lowering iron levels can be done relatively simply by having blood drawn regularly. Changes in diet can also help maintain safe levels of iron. 
</div>
I’d been taking a daily multivitamin with iron for a few months – something I’d only sporadically done in my life – and I promptly stopped taking it. Knowing that I could be absorbing a lot of iron from my uncoated cast iron pan, a family heirloom used for generations in my husband’s family, I moved it to the back shelf. I also decided that it couldn’t hurt to cut back on iron-rich red meat and shellfish and to stop eating iron-fortified cereal for breakfast.
A few months later another iron panel was ordered and I was happy to see that my transferrin saturation had gone down to 25%, a very safe level (on both occasions my serum ferritin was in the normal range). But it wasn’t until I met with a hematologist that I gained a clear understanding of what my genetic results meant for my health.
When I tried to apologize to the hematologist for walking into his office “healthy”, he reassured me that I was doing the right thing and that prevention is key. We discussed my combination of mutations and he advised me to have my transferrin saturation and serum ferritin levels checked every two years. He also said that the game plan could change when I go through menopause and lose my natural way of expelling iron.
My hematologist also confirmed my decision to forgo iron supplementation and agreed that the cast iron pan was probably better off on the back shelf. He did think, however, that I should see how much control I have over the amount of iron I absorb through my diet and suggested that I begin eating some iron-rich food and then get another iron panel. I’m in my thirties and I’d prefer to know now whether my love for red meat and shellfish is out of the question or if moderate consumption is just fine.
It’s pretty clear that I don’t have much to worry about at the moment since simple lifestyle changes have pushed my iron markers into the healthy range. What has become obvious, though, is that my genetic predisposition for iron overload isn’t just about my health: it’s also about my family. I have two older brothers who could be at risk for hemochromatosis and I’m now in the process of getting them tested. There’s only a 25% chance that each of them also inherited these two mutations, but that’s not a chance that I want to take, especially since simple actions can make a world of difference for those at risk for iron overload.
July is National Hemochromatosis Month. Check out other posts on this condition:
 &#8211; <a href="https://blog.23andme.com/articles/the-iron-scale-factors-tipping-towards-overload">The Iron Scale: Factors Tipping Towards Overload</a> 
 &#8211;  <a href="https://blog.23andme.com/articles/blood-simple" rel="bookmark">Battling Against A Common Genetic Disease</a> 
&#8211;<a href="https://blog.23andme.com/articles/the-most-common-genetic-disease" rel="bookmark"> The Most Common Genetic Disease</a>
<div style="padding: 10px; margin-top: 15px; margin-bottom: 15px; font-size: 12px; border: 1px solid #ccc;">
<img loading="lazy" decoding="async" class="alignleft size-full wp-image-12163" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/JRBgdIBXKIeVIdETJrxYIw_ttam_logo.jpg" alt="" width="24" height="40" />
View your results for more genetic factors linked to hemochromatosis in your account. 
Not yet a customer? <a href="https://www.23andme.com/store/cart/">Visit our store!</a>
</div>

23andMe Blog

23andMe Blog Team

Learning About My Risk For Iron Overload

<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-14268" title="Just Hands" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/Just-Hands-300x199.jpg" alt="" width="300" height="199" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/Just-Hands-300x199.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Just-Hands.jpg 425w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Janssen Healthcare Innovation, a unit of Janssen Research &amp; Development, LLC, is sponsoring a study in <a href="https://www.23andme.com/health/Rheumatoid-Arthritis/techreport/" target="_blank" rel="noopener noreferrer">rheumatoid arthritis </a>patients that will be conducted by <a href="http://www.mediguard.org/" target="_blank" rel="noopener noreferrer">MediGuard.org</a> (a subsidiary of Quintiles) and 23andMe.
The study, called TogetherRA, will enroll approximately 1,000 patients who are currently receiving or have previously received anti-TNF-alpha therapeutics for their rheumatoid arthritis. MediGuard.org will recruit patients directly out of its 2.7 million member patient community and, with patients’ consent, will gather information related to patients’ diagnosis and response to treatment from medical records.
<a href="https://www.23andme.com/research/" target="_blank" rel="noopener noreferrer">23andMe</a> will be responsible for genotyping patients, collecting patient-reported outcomes data, integrating medical record data, as well as conducting a genome-wide analysis that will explore genetics and patients&#8217; response to anti-TNF-alpha therapeutics. Notably, all participants in this study will receive access to their own genetic data. 23andMe is excited to conduct this important research in rheumatoid arthritis.
<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-14279" title="togetherRA-graphic 2" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2-300x94.jpg" alt="" width="300" height="94" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2-300x94.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2-768x241.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2-1024x322.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2-880x276.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/07/togetherRA-graphic-2.jpg 1089w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Janssen Healthcare Innovation is sponsoring this study as part of its initiative to explore a direct-to-patient research model and utilize novel ways to conduct research and support an empowered patient experience.

Leveraging The Direct-to-Patient Research Model in Rheumatoid Arthritis

<div style="float: right; text-align: justify; width: 300px; background-color: #eee; padding: 10px; margin-left: 15px; margin-bottom: 15px; font-size: 12px;">
<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-14357" title="Spinach can with Popeye" alt="" src="https://blog-api.23andme.com/wp-content/uploads/2012/07/Spinach-can-with-Popeye-300x225.jpg" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/Spinach-can-with-Popeye-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Spinach-can-with-Popeye.jpg 500w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Some of us may have grown up thinking that spinach is a good source of iron, but this isn&#8217;t exactly true. It&#8217;s been said that a report from the 1800&#8217;s mistakenly claimed that the vegetable has 10 times more iron than it actually has. It&#8217;s also known today that spinach contains the molecule oxalic acid, which can inhibit the absorption of iron. The <a href="http://www.webmd.com/diet/features/top-10-iron-rich-foods">amount of iron in spinach</a> is on par with other dark, leafy green vegetables. 
Image by <a href="https://www.flickr.com/photos/icanchangethisright/">bradleygee</a> 
</div>
Popeye&#8217;s love for spinach was once a symbol of humans’ need for iron and it’s true that many individuals are at risk for anemia, especially <a href="http://health.nytimes.com/health/guides/disease/anemia/risk-factors.html">young children and pre-menopausal women</a>.
For this reason a number of countries market iron-fortified foods (a single serving of Post Grape-Nuts provides 90 percent of the daily dose of iron) and many multivitamins contain iron.
But while all humans need iron to survive, some people need less than others. Roughly one in 300 people with European ancestry has a genetic condition called hereditary hemochromatosis (he-mo-kro-mah-TOE-sis) that poses a risk for accumulating too much iron.
Excessive iron can cause serious damage to organs and lead to liver disease, arthritis, and heart problems. This condition is recessive, meaning that you must inherit a bad gene from each parent to end up with the disorder.
In 1996 scientists <a href="https://www.nature.com/ng/journal/v13/n4/abs/ng0896-399.html">identified the genetic defect</a> underlying most forms of hereditary hemochromatosis – the C282Y mutation in the HFE gene that’s found in one in 10 people with European ancestry. As the years went on additional mutations in the HFE gene were identified including the very common but less severe H63D variant, found in one in five individuals, and the relatively mild S65C, which is carried by about one to two percent of people. These mutations are thought to interrupt the process by which the body regulates iron stores, something that is critical for optimal health.
Although finding the primary cause of &#8220;<a href="../health-2/the-most-common-genetic-disease/">the most common genetic disease</a>&#8221; was a breakthrough, it also laid the groundwork for a new medical mystery: only a small fraction of people with two HFE mutations ever develop serious complications as a result of iron overload.
The advent of genetic testing in the late 1990’s allowed people of a variety of ages – both symptomatic and asymptomatic – to be screened for hereditary hemochromatosis and researchers quickly noted that although having two mutations seemed to elevate iron markers in the blood, most individuals never displayed more serious symptoms like liver disease and arthritis.
It’s not totally clear why some people with a genetic diagnosis of hereditary hemochromatosis go on to develop serious complications while others skate through life without problems, but numerous factors are likely at work. Iron accumulates in the body over time and thus age plays a big role. Sex is important since pre-menopausal women have a natural way of ridding the body of iron through monthly periods. It’s possible, though not yet proven, that additional genetic changes could be playing a role and thus it’s important to consider a person’s family history of the disease.
There’s also evidence that prevention through diet and lifestyle can be important. A withdrawal of iron fortification of flour in Sweden appears to<a href="https://www.ncbi.nlm.nih.gov/pubmed/9368814"> be good news</a> for people with hereditary hemochromatosis, but the question remains whether this benefit outweighs the risk it may pose to those with anemia.
Alcohol is already tied to liver disease and when paired with hemochromatosis it can be even worse – a <a href="https://www.ncbi.nlm.nih.gov/pubmed/11832443">study in Australia</a> showed that people with hemochromatosis who drank more than 60 grams of alcohol per day (about 2 ounces) were roughly nine times more likely to develop cirrhosis of the liver compared to those who drank less.

The Iron Scale: Factors Tipping Towards Overload

<img loading="lazy" decoding="async" class="alignright wp-image-14230 size-medium" title="Rory and Daddy on the beach" src="http://35.88.189.111/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-300x300.jpg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2012/07/Rory-and-Daddy-on-the-beach.jpg 696w" sizes="auto, (max-width: 300px) 100vw, 300px" />
It’s the most common genetic disorder in the United States, but Milo Sharp had never heard of it before.
The disorder, hemochromatosis, causes iron overload. Undiagnosed it can lead to a build up of iron in the body, particularly in the liver. This, in turn, can lead to serious health problems.
In the United States about 1 of every 300 people has <a href="https://www.23andme.com/topics/health-predispositions/hereditary-hemochromatosis">hereditary hemochromatosis</a>, but people remain largely unaware of the condition, which often has few symptoms and is hard to diagnose.
“Honestly I’d never heard of it which is kind of surprising, (because) my father is a doctor who specializes in blood,” said Milo, a 37 year-old computer programmer in Raleigh North Carolina.
Milo would have remained unaware of the lurking threat but for his wife’s interest in genetics.
“My wife decided to sign up with 23andMe, just to satisfy her curiosity,” he said.
After a little prodding from her, he also got a kit.
“Once we got our data, we found out some interesting details about our ancestry, but I found myself drawn to the health information,” Milo said.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">
<img decoding="async" class="alignleft size-full wp-image-302" title="23andwe3" src="https://blog-api.23andme.com/wp-content/uploads/2008/06/23andwe3.jpg" alt="" width="60" />
Read more 23andMe customer stories <a href="https://www.23andme.com/stories/" target="_blank" rel="noopener noreferrer">here</a>.
If you have one of your own that you want to share email stories@23andme.com.
</div>
Still relatively young, Milo was dealing with a few health problems – sleep apnea, type 2 diabetes and high cholesterol – that taken together concerned him. Already a father of three boys, Milo’s wife was pregnant with a boy. Suddenly Milo’s long-term health became that much more important.
“I wanted to be there for my sons,” he said.
Milo saw that he was at increased risk for diabetes, which is something he already knew he had, but it was when he looked at his carrier status report that he learned something new.
“When I drilled down it was kind of surprising – I found not just one (variant) but two that put me at higher risk for hemochromatosis,” Milo said.
As he read more about the disease and how it can impact the body if untreated, Milo became concerned.
“I was worried that if I had it, it could exacerbate some of the other conditions I already had,” he said.
So he printed out a copy of his 23andMe results and took them with him the next time he saw his doctor.
“None of the doctors had ever heard of (23andMe) so not surprisingly they were pretty skeptical,” Milo said.
Hemochromatosis is typically hard to diagnose until it gets to more acute stages. But Milo explained that he carried two genetic variants that put him at a higher risk for the disease. Because of his existing conditions, Milo said he didn’t want to wait for symptoms to appear. He had additional blood tests done and one showed significantly elevated serum ferritin levels, essentially an indication of how much iron is stored in his organs.
“My (doctor) said, ‘this is something we’re going to want to look at,’” Milo said.
After working with other doctors and having a liver biopsy, Milo learned that he indeed had hemochromatosis.
“I had significant iron overload in my liver,” he said.
His liver was under stress and had internal scarring, but the condition was found early enough that there were specific treatments he could undergo to manage it.
“I can do other things like change my diet and lifestyle to improve my health and I’m working on that,” he said. “I think 23andMe may have saved my life or at least prolonged it and I want to let others know that.”
<div style="padding: 10px; margin-top: 15px; margin-bottom: 15px; font-size: 12px; border: 1px solid #ccc;">
<img decoding="async" class="alignright size-full wp-image-12163" title="small_23andMe_logo" src="https://blog-api.23andme.com/wp-content/uploads/2012/04/JRBgdIBXKIeVIdETJrxYIw_ttam_logo.jpg" alt="" width="24" />
View your results for genetic factors linked to Hereditary Hemochromatosis in your account. 
Not yet a customer? <a href="https://www.23andme.com/store/cart/">Visit our store!</a>
</div>

Battling Against A Common Genetic Disease

<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.

The Most Common Genetic Disease

(Editors note: Dan Vorhaus pointed out an error in an earlier version of this introduction concerning the SCOTUS blog. We&#8217;ve corrected the error. Thanks Dan.) In light of the Supreme Court’s ruling this week largely upholding the health care reform law, we’re reposting a story we did back in March. 
If you missed the news about the ruling there is plenty out there to help you make sense of it all. The <a href="http://www.scotusblog.com/" target="_blank" rel="noopener">SCOTUS blog</a> sponsored by Bloomberg Law has some <a href="http://www.scotusblog.com/">helpful summaries</a> of the decision as well as posts detailing its <a href="http://www.scotusblog.com/2012/06/dont-call-it-a-mandate-its-a-tax/">core points</a>. And almost immediately after the 5-4 ruling, most major papers had coverage including the<a href="https://www.washingtonpost.com/politics/courts-law"> Washington Post</a>,<a href="http://topics.nytimes.com/top/reference/timestopics/organizations/s/supreme_court/affordable_care_act/index.html"> New York Times</a> and the<a href="https://online.wsj.com/article/SB10001424052702303649504577494553982451864.html?mod=googlenews_wsj"> Wall Street Journal</a>. 

This post from our archives looks more broadly at issues related to health care costs. 
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11984" title="robert_pearl" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/robert_pearl1-300x290.jpg" alt="" width="300" height="290" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/robert_pearl1-300x290.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/robert_pearl1.jpg 488w" sizes="auto, (max-width: 300px) 100vw, 300px" />Robert Pearl, MD
In the lead up to this week’s arguments at the Supreme Court over the health care reform law, 23andMe got the opinion of two doctors on what’s ailing the country’s medical system. 
On separate visits we heard from<a href="http://www.venrock.com/team/#/team/?item=99"> Bob Kocher</a>, an MD and partner at<a href="http://www.venrock.com/?home=1"> Venrock</a> who previously served as a special assistant to the president for Healthcare and Economic Policy and was instrumental in writing the reform law. A few weeks after hearing from Kocher we heard from<a href="http://xnet.kp.org/newscenter/aboutkp/bios/california/pearl.html"> Robert Pearl</a>, also an MD and the Executive Director and CEO of<a href="https://members.kaiserpermanente.org/kpweb/aboutus.do"> The Kaiser Permanente Medical Group</a>. Under Pearl’s leadership Kaiser has been singled out as an example of how to deliver quality affordable health.
While Kocher’s and Pearl’s opinions on the law and whether the court will uphold it diverged on some points, both men offered a pretty grim diagnosis if some sort of reform doesn’t go forward. Spending on health care continues to grow more rapidly than the economy as a whole. We now spend about 18 percent of our GDP on health care or &nbsp;– a larger share than what we spend on manufacturing or retail trade. Back in the early 1960s health care costs were only about 4 percent of GDP. According to Pearl, the rapidly growing costs are on course to cripple the economy. 
The irony about all this spending is that while we pay out far more than any other country in the world and more than twice the average for industrialized countries, our<a href="http://blogs.ngm.com/.a/6a00e00982269188330120a7a46406970b-popup"> outcomes are worse</a>. We have lower life expectancy and higher infant mortality rates than countries that spend far less. 
Under the current system there aren’t incentives for preventing diseases. All the upside is in treatment or interventions and this drives costs up. 
“People have a hard time understanding that we are able to spend less and improve quality,” said Pearl. 
“If every American got the same care (as they do at Kaiser) there would be 200,000 fewer strokes each year, 75,000 people wouldn’t die of cancer and the mortality rate of AIDS/HIV would be halved; sepsis in hospitals would diminish by 40 percent,” Pearl said. 
Some of this is done through better use of data, integrating treatment and preventative care and effectively using technology. He pointed out that in many ways medical care is still a cottage industry in America with doctors providing “piecemeal” services isolated from each other. And he said the system is largely out of touch with the economic efficiencies and technologies we see in other sectors, like banking. &nbsp;He foresees simple fixes such as the widespread use of electronic records similar to the system used by Kaiser, as well as video-links for some types of doctors visits and the use of more email exchanges between doctors and patients. All these can reduce costs and improve efficiency, he said. 
Much of this is in line with Kocher’s prescription for reform.
<img loading="lazy" decoding="async" class="alignright size-medium wp-image-11979" title="Bob Kocher - Venrock" src="https://blog-api.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-300x300.jpg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-300x300.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-768x768.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-1024x1024.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-880x880.jpg 880w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-1180x1180.jpg 1180w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-271x271.jpg 271w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-372x372.jpg 372w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-574x574.jpg 574w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD-980x980.jpg 980w, https://blogcms.23andme.com/wp-content/uploads/2012/03/Bob-Kocher-MD.jpg 1395w" sizes="auto, (max-width: 300px) 100vw, 300px" />Bob Kocher, MD
Back in 2009, Kocher and several others authored a report for the Brookings Institute, called “Bending the Cost Curve,” that outlined in detail several strategies for reducing the growth of health care costs. Many of these ideas were incorporated into the health care reform bill. 
He outlined for us some of the things he felt were key components of those strategies, foremost of which was moving away from paying by treatments toward a system that bundled payments. For example instead of compensating a hospital for all the different treatments they delivered to a diabetes patient in a year, the hospital would be paid one lump sum for treating everything related to that patient’s care in a year while meeting certain quality metrics. 
Both Kocher and Pearl also talked about giving patients access to more information to involve them in their own health decisions and empower them to make choices. Kocher mentioned that giving people more information about the costs and performance of doctors and hospitals empowers them to be better consumers. They’ll know which doctors and hospitals have better outcomes and this will help them make smarter decisions when choosing where they spend their health care dollars. This is also the premise behind the company Castlight Health, where Kocher is on the board of directors. 
Both Kocher and Pearl believe that genetics tests like 23andMe’s will play a role in making health care more personal and they believe that the tests will become increasingly more commonplace. But, as Pearl said, there is a long delay in the adoption of new technology within the health care industry. There is also a lot of negative inertia within the system in which the rewards are for treatment not for prevention. 
23andMe CEO and co-founder Anne Wojcicki<a href="https://www.huffingtonpost.com/anne-wojcicki/secret-code-dna_b_1187141.html"> recently wrote</a> about this explaining: 
“If I develop type 2 diabetes, the whole healthcare system knows how to deal with it, treat and profit from it. But if I discover I am at high risk for type 2 diabetes, I change my diet and exercise patterns and successfully prevent it, no one profits but me. We believe that engaging people in their own health care by giving people access to their genetic information and informing them of how to prevent disease can help.” 
While all the attention this week is on the legal questions being argued in front of the Supreme Court, this broader question about how best to lower costs, improve quality and empower people in their own health care isn&#8217;t going to go away any time soon.

Health Care Costs and Reform

<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-12994" title="egg+sperm" src="https://blog-api.23andme.com/wp-content/uploads/2012/05/egg+sperm-300x225.jpg" alt="" width="300" height="225" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/05/egg+sperm-300x225.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2012/05/egg+sperm.jpg 400w" sizes="auto, (max-width: 300px) 100vw, 300px" />
As a woman ages her fertility naturally declines such that by the time she reaches menopause her “ovarian reserve” is depleted, meaning that she has few to no eggs – oocytes – remaining in her ovaries.
Some women, however, have problems with fertility relatively early in life and this may be due to premature ovarian decline (reduced number and quality of eggs). Although it’s not clear why this occurs, it’s likely that both genetic and environmental factors play a role.
In the first genome-wide association <a href="https://www.ncbi.nlm.nih.gov/pubmed/22116950">study on this topic</a>, researchers from Stanford, UCSF, and Kaiser Permanente have attempted to identify genetic and environmental factors associated with markers of ovarian reserve. The study enrolled around 230 women with European ancestry and 200 with African-American ancestry, aged 25-45. The women were recruited from the general population and were of normal reproductive health.
<div style="float: right; text-align: justify; width: 300px; background-color: #eee; padding: 10px; margin-left: 15px; margin-bottom: 15px; font-size: 12px;">
How is Ovarian Reserve Measured? 
There are a number of clinical tests for <a href="http://humrep.oxfordjournals.org/content/23/3/699.long">measuring a woman’s remaining egg pool</a>, though no single one is a perfect proxy for ovarian reserve. Blood levels of hormones involved in follicle development – follicular stimulating hormone (FSH) and anti-Mullerian hormone (AMH) – are typically measured. Physicians also use ultrasound to count the number of antral follicles, the structures in the ovaries that release an egg when a woman ovulates. Like ovarian reserve, AMH levels and antral follicle count both decline with age. Conversely, levels of FSH go up as a woman ages and higher levels are typically found in women with reduced ovarian reserve. 
<img loading="lazy" decoding="async" class="aligncenter wp-image-14095 size-thumbnail" title="ovarian reserve" src="http://35.88.189.111/wp-content/uploads/2012/06/ovarian-reserve3-150x150.png" alt="" width="150" height="150" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/06/ovarian-reserve3-150x150.png 150w, https://blogcms.23andme.com/wp-content/uploads/2012/06/ovarian-reserve3-271x271.png 271w, https://blogcms.23andme.com/wp-content/uploads/2012/06/ovarian-reserve3-372x372.png 372w" sizes="auto, (max-width: 150px) 100vw, 150px" />
This figure shows that AMH and antral follicle count parallel declining ovarian reserve, while FSH levels increase as a woman&#8217;s egg pool declines. The relative levels are arbitrary in this graph as it is just meant to show the general relationship between different markers of ovarian reserve. 
</div>
The researchers first confirmed that levels of two fertility-related hormones – FSH and AMH (see sidebar) – correlated with maternal age and antral follicle number, though they found more variability in the African-American women than in the European women. They also found several genetic factors that may correlate with antral follicle count in the African-American group but did not find any factors for this trait in the European cohort.
These findings are very preliminary and larger studies are needed to confirm and expand upon these results.
Of course, the environment can also play an important role in fertility. Although the findings were not definitive, the researchers found some indication that women who smoked had a higher rate of antral follicle decline as they got older.
The data also suggested that oral contraceptive use might lead to reduced follicle count, though for the most part this only seemed to be the case in African-American women.
Overall, these findings provide preliminary results for a very complex biological phenomenon.
If the identified genetic markers are confirmed in future studies, they could be used to identify women at risk for premature ovarian decline and possible fertility problems. More research on environmental factors influencing fertility may also help in preventing, delaying, or treating ovarian decline.

Egg Hunt: New Research on Female Fertility

<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-14021" title="Quebec flag 2" src="https://blog-api.23andme.com/wp-content/uploads/2012/06/Quebec-flag-2-300x218.png" alt="" width="300" height="218" srcset="https://blogcms.23andme.com/wp-content/uploads/2012/06/Quebec-flag-2-300x218.png 300w, https://blogcms.23andme.com/wp-content/uploads/2012/06/Quebec-flag-2.png 549w" sizes="auto, (max-width: 300px) 100vw, 300px" />
Editor&#8217;s note: This post has been edited from its original.
“<a href="https://en.wikipedia.org/wiki/Qu%C3%A9b%C3%A9cois">Quebecois</a>” will likely be celebrating <a href="https://en.wikipedia.org/wiki/National_Holiday_%28Quebec%29">John the Baptist</a> and French-Canadian heritage on June 24th with lively parties, parades and bonfires.
<h6>French Canadians</h6>
At 23andMe we’re paying tribute to French-Canadian ancestry with the release of two new health reports on rare genetic disorders (Leigh Syndrome, French Canadian Type; and Tyrosinemia Type I) that affect French Canadians more than the general European population.
You’re more likely to encounter these and a few other rare conditions in Quebec because of the interesting history of this region. When French immigrants arrived in “New France” (modern day Quebec) in the 17th century, they likely brought a few “genetic stowaways” with them – mutations that don’t cause any problems on their own but when paired up can result in serious diseases. (Many of the genetic conditions that affect French Canadians today are so-called “recessive” conditions and are caused by having two bad copies of a gene – one from mom and one from dad.)
<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-8068" src="https://blog-api.23andme.com/wp-content/uploads/2010/12/carrier-chances-255x300.png" alt="" width="255" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2010/12/carrier-chances-255x300.png 255w, https://blogcms.23andme.com/wp-content/uploads/2010/12/carrier-chances.png 614w" sizes="auto, (max-width: 255px) 100vw, 255px" />Mendelian Recessive Disorders 
For a recessive disorder like most of those described here, a child whose parents are both carriers will have a 25% chance of developing the disease, a 50% chance of being a carrier, and a 25% chance of being neither.
<h6>Founder Effect</h6>
They also encountered remote lands that hadn’t been settled yet, so they didn’t have many choices when it came to finding a mate! Through generations of marrying within their own community, the founders’ stowaway mutations got passed down and became more common, thus raising the chances that two people carrying a mutation would have a child that inherits both copies of the mutation.
This <a href="https://www.pbs.org/wgbh/evolution/library/06/3/l_063_03.html">“founder effect”</a> phenomenon is most obvious today in the Saguenay-Lac-Saint-Jean region of Quebec where roughly one person in 20 carries a mutation for a rare recessive disorder and about one in 2000 is born with the condition.
<h6>Founding Immigrants</h6>
Although some of these disorders affect more than just French Canadians, all of them are found at relatively high rates in Quebec and especially in Saguenay-Lac-Saint-Jean. (See table below for more information about these conditions).
French Canadians aren’t the <a href="https://blog.23andme.com/articles/ashkenazi-ancestry-and-health">only group with higher rates</a> of certain diseases, but they are unique in that they can trace their ancestry both genetically and through genealogical records generated by the Roman Catholic Church.
Some researchers have even begun to pinpoint which <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1224533/">founding immigrants</a> first introduced the stowaway mutations into their new home of Quebec.

French-Canadian Ancestry and Relevant Health Conditions

Editor&#8217;s note: This post has been edited to reflect changes in our product.
<img loading="lazy" decoding="async" class="aligncenter size-medium wp-image-2744" title="sun" src="https://blog-api.23andme.com/wp-content/uploads/2009/02/sun-300x222.jpg" alt="" width="300" height="222">
Today is summer solstice, the longest day of the year in the northern hemisphere. This means that there’s a lot of light around and as a consequence, people with the “ACHOO syndrome” might be sneezing a lot.
Gesundheit! 
Two years ago 23andMe announced a <a href="http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000993">new genetic discovery</a> that at least partially explains why some people sneeze when they go from darkness to light. A certain genetic variant increases the likelihood of having this <a href="https://www.23andme.com/topics/traits/photic-sneeze-reflex/">photic sneeze reflex</a>, also called the ACHOO syndrome (short for Autosomal-dominant Compelling Helio-Ophthalmic Outburst syndrome). Each copy of the C version of is associated with 1.3 times increased odds of having the trait in people with European ancestry.
The reflex is harmless but understanding this common trait could help scientists better understand other light-triggered reactions, such as some types of epileptic seizures. This <a href="https://www.23andme.com/about/factoids/">discovery</a> was fueled by 23andMe customers who took the survey &#8220;Ten Things About You&#8221;.
We hope you aren’t sneezing today, but if you are then perhaps you can blame it on your DNA. Either way 23andMe wishes all of you a happy summer solstice!

Health + Traits — Page 29