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?

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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!

Tags: CDC, cruise ship, norovirus

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.) Continue Reading »

Tags: BDNF, driving, Huntington's, lupus, multiple sclerosis, Parkinson's, stroke

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. Continue Reading »

Tags: clopidogrel, clotting, comparative effectiveness research, CYP2C19, Effient, Francis Collins, heart, Medco, pharmacogenomics, Plavix, prasugrel

There are over 50,000 people in North America who define themselves as Hutterites, though you probably have never met one. One of the main branches of the Anabaptists, Hutterites live in self-sustaining communities throughout the rural northwestern United States and Canada.

Like their sister branches, the Amish and the Mennonites, the history and culture of the Hutterites have long fascinated scholars. But there have been few forays into the genetics of this unique community — until now. In the October 21 issue of the European Journal of Human Genetics, geneticist Irene Pichler and an international team of experts set out to unravel the genetic history of the Hutterites. Continue Reading »

Tags: Anabaptist, Haplogroup, Hutterite, Jakob Hutter, mtDNA, Y-chromosome

Lupus, which means “wolf” in Latin, gets its name from the skin manifestations sometimes seen in the disease. A physician in the 13th century thought they looked like wolf bites.

In autoimmune disorders, the immune system — which normally protects us from harmful, foreign substances — goes into overdrive and starts attacking the body’s own cells, causing inflammation and organ damage.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by chronic, widespread inflammation that can result in arthritis, fever, skin rashes, muscle aches, seizures and fatigue, among other symptoms. Some symptoms can even be life-threatening. Between one and seven out of every 10,000 people is affected by SLE. The disease affects women nine times more frequently than men, and tends to be more prevalent and severe in people of non-European descent. The exact causes of SLE are unknown and there is currently no cure.

For several decades now, researchers have probed the genetic underpinnings of this mysterious disease. Two studies published this week in Nature Genetics identify new genetic variants associated with SLE in European and Asian populations.

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Tags: Asian, Chinese, European, lupus, Nature Genetics, systemic lupus erythematosus

Previously in The Spittoon, we discussed two papers that identified genetic variants associated with hemoglobin levels in circulating blood.

But blood consists of much more than hemoglobin, and it is responsible for much more than just transporting oxygen. This week Nature Genetics published the results of two of the largest blood studies to date, which together identified dozens of new variants associated with nine blood-related traits.

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Tags: blood, coronary artery disease, Hb, Hct, human evolution, MCH, MCV, MPV, Nature Genetics, PLT, RBC

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

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

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Tags: 23andWe, headache, migraine, survey

The Near East – a swath of land that encompasses the Arabian Peninsula, the Levant, and everywhere in between – has been populated by humans longer than anywhere else in the world save Africa. It is where agriculture was born and spread into Eurasia. It is where the ancient civilizations of Mesopotamia and Egypt evolved and flourished. And it is where a particular paternal haplogroup, J1e, arose about 10,000 years ago.

Paternal haplogroups define a person’s all-male ancestry (i.e. the origins of your father’s father’s father, etc.), and are passed down from father to son via the Y chromosome. Haplogroup J1e has long interested experts because it seems to have expanded and flourished in the harsh deserts of Arabia. Today it is quite common among Bedouin nomads from Saudi Arabia, United Arab Emirates, and Oman, as well as in men from Turkey, Ethiopia, and the Levant.

In 2008, scientists at Stanford University proposed that the presence of J1e throughout the Near East could be tied to the nomadic hunter-herders who have dotted the region for thousands of years. In the October 14 issue of the European Journal of Human Genetics, these same scientists – including 23andMe consultants Roy King and Peter Underhill and 23andMe scientist Brenna Henn – test this theory with a little help from the field of linguistics.

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Tags: Arabia, Bedouin, Haplogroup, J1e, Semitic, Y-chromosome

Doctors routinely order the complete blood count (CBC) for their patients because they can learn a lot about a person’s health by measuring the numbers of different types of blood cells in the circulation, their sizes and the ratios between them.

One component of the CBC is usually a measure of the total amount of hemoglobin, the oxygen carrying protein found in red blood cells.  Low levels of hemoglobin can be a sign of nutritional deficiency, autoimmune disease or bone marrow problems, and may result in fatigue, irregular heartbeat and poor growth in children.  Abnormally high levels of hemoglobin can be caused by heart failure, COPD or kidney cancer and are associated with increased risk of stroke.

New research published online in the journal Nature Genetics this week identifies two SNPs that account for a small amount of the variation in hemoglobin levels seen in the population and may help scientists find new ways to treat blood disorders. Continue Reading »

Tags: anemia, blood, CBC, hemochromatosis, hemoglobin, Nature Genetics