Health Buzz: Noninvasive Stool Test Could Detect Colon Cancer

A reliable, at-home colon cancer screening test that identifies DNA mutations in stool samples could soon supplement the dreaded colonoscopy. Exact Sciences Corp.'s noninvasive tool is far more predictive of colon cancer than the standard stool blood test because it screens for mutations associated with the presence of tumors. In a study of more than 1,000 patients, the test detected 85 percent of colon cancers, 64 percent of precancerous polyps, and 90 percent of healthy samples, researchers said Thursday at an American Association for Cancer Research conference. About 150,000 people are diagnosed with colon cancer each year, and 50,000 die from the disease annually. Often, that's because people shy away from invasive and somewhat risky colonoscopies until they have symptoms—indicating that the disease may already be advanced, The Wall Street Journal reports. "The noninvasive test we have developed is simple for patients, involves no diet or medication restriction, no unpleasant bowel preparation, and no lost work time, as it can be done from home," David Ahlquist, a Mayo Clinic researcher who helped develop the test, said at the conference. "Positive tests would be followed up with colonoscopy." The tool requires at least another year of development before it's ready for clinical use, researchers said.

Scientists Map 95% Of Human Gene Variations

An international team of scientists has mapped 95 per cent of the genetic variation that can occur in any human, completing the first phase of the 1000 Genomes Project, which aims to produce a comprehensive public resource to help researchers study all types of genetic variation that might cause disease in humans.

The map, and an account of how the consortium behind the project compiled it, appears in a paper published in the 28 October issue of the journal Nature.

Many of the variants had been identified already, but more than half are new: so far 95 per cent of the currently measurable variants in any person have been found, and when completed, the project will have identified more than 99 per cent of all human variants.

The new map also includes some surprises.

For instance, the researchers found that on average, each of us has between 250 and 300 genetic changes that would cause a gene to stop working properly, confirming that none of us has a "perfect" genome. Another surprise was that each person carries between 50 and 100 genetic variations that have already been linked with an inherited disease.

However, because we each carry two copies of a gene, one from each biological parent, the chances are that we stay healthy, as long as one of the copies is ok.

As well as looking at common variants, the researchers looked in detail at the genomes of two families of three members each: mother, father and daughter.

They located new variants in the daughters that were not present in either of their parents. This helped them determine the rate of mutation of DNA in humans, which they worked out to be about 60 new mutations per generation (ie variants that are not passed on from the parents, but are still "faults" compared to the "perfect" genome).

The work was spread across three pilot studies where the researchers used next-generation DNA sequencing technologies to map genetic variation in 180 people.

Cholera death toll nears 300 in Haiti

The death toll from Haiti's cholera outbreak has risen to 292, the Haitian government said Wednesday. There are 4,147 confirmed cases.

Calling Haiti's cholera outbreak "an extremely serious condition," a United Nations official expressed concern Monday that the infectious disease could spread and grow to "tens of thousands of cases."

"It would be careless to plan for anything but a considerably wider outbreak," said Nigel Fisher, U.N. humanitarian coordinator in Haiti.

Officials with the Pan American Health Organization expressed similar concerns about the disease spreading to the Dominican Republic.

CARE has medical teams working around the clock to treat patients in the affected area.

"We also are working in Port-au-Prince, providing hygiene and water purification tablets," CARE spokesman Brian Feagans told CNN.

Missionaries from Tennessee are also doing their part to help contain the cholera outbreak in nearby areas.

"People are aware now; fears are there, but they don't know enough to understand the dangers," Andrea Brewer said.

Sleepiness Might Be in the Genes, Study Finds

No issue how little they sleep, some people can keep a skip in their step while others will yawn and struggle through the day. A new study from the University of Pennsylvania School of Medicine found that the reason could be in our genes.

Researchers found that healthy people with one particular genetic variant were normally sleepier than those without the gene. About 25 percent of the common public has the genetic variant, called DQB1 *0602, but only a little percentage of them actually suffer from sleep problems.

One person who has been told by his doctor that he may have this genetic difference is Robert Gibson, a 43-year-old machine shop supervisor in Milan, Illinois. Sleep is supposed to rejuvenate the body, but for Gibson, it can be anything but invigorating.

It would not be the only gene-linked sleep situation Gibson experiences; he already suffers from bouts of sleep paralysis, a disorder in which sufferers feel paralyzed as they fall asleep or as they wake up. Episodes can last a few seconds to a couple of minutes, but Gibson said the effects of the temporary paralysis seem to bog him down every day.

One-Third of U.S. Adults Could Have Diabetes by 2050: CDC

The number of American adults with diabetes could double or triple by 2050 if present trends continue, warns a federal government study released Friday.

The number of fresh diabetes cases a year will increase from 8 per 1,000 in 2008 to 15 per 1,000 in 2050, predicts the U.S. Centers for Disease Control and Prevention. By 2050, between one-fifth and one-third of all adults could have diabetes -- with virtually all the increase attributed to type 2 diabetes, which is largely preventable.

An aging population, an increase in minority groups at higher risk for diabetes, and the fact that diabetes patients are living longer are among the reasons for the steep projected rise.

"These are alarming numbers that show how critical it is to change the course of type 2 diabetes," Ann Albright, director of CDC's Division of Diabetes Translation, said in an agency news release. "Successful programs to develop lifestyle choices on healthy eating and physical activity must be made more widely available, because the stakes are too high and the personal toll too devastating to fail."

Another expert agreed.

"These data are accurate and reflect reality," said Dr. Mary Ann Banerji, professor of medicine and director of the Diabetes Treatment Center at SUNY Downstate Medical Center, New York City. "Taking into consideration minorities and longer life expectancy, the real burden of diabetes is much greater than several people thought."

Banerji believes that "we need to act now. Immediate changes in diet, physical activity, stress and sleep are known to decrease diabetes and obesity. We can create changes in our physical environment to promote greater physical activity and we should consider changes in national food policy."

Diabetes remains the leading cause of new cases of blindness under age 75, kidney failure, and preventable leg and foot amputation among adults in the United States, according to the CDC.

In addition, people diagnosed with diabetes have health costs that are more than twice that of those without the disease, the agency reports. The total costs of diabetes in the United States are an estimated $174 billion annually, including $116 billion in direct medical costs.

Low dose of aspirin could cut cancer, study finds

A low dose of aspirin may reduce colon cancer cases by a quarter and deaths by a third, a new study found.

But experts say aspirin's side effects of bleeding and stomach problems are too worrying for people who aren't at high risk of the disease to start taking the drug for that reason alone.

Previous studies have found a daily dose of at least 500 milligrams of aspirin could prevent colon cancer, but the adverse effects of such a high dose outweighed the benefits. Now, researchers say a low dose, equivalent to a baby or regular aspirin, also appears to work.

European researchers looked at the 20-year results of four trials with more than 14,000 people that were originally done to study aspirin's use in preventing strokes. They found people taking baby or regular aspirin pills daily for about six years reduced their colon cancer risk by 24 percent and that deaths from the disease dropped by 35 percent. That was compared to those who took a dummy pill or nothing. There seemed to be no advantage to taking more aspirin than a baby-sized dose.

The study's conclusion that even low doses of aspirin can reduce colon cancer suggests the drug is inching its way toward being used for cancer prevention, though people should not start taking aspirin daily without consulting their doctor.

The studies used European baby aspirin of 75 milligrams and regular aspirin, 300 milligrams. US. baby aspirin is 81 milligrams and regular aspirin, 325 milligrams.

Gene may protect against alcoholism

Some people possess genetic characteristics that give them a low stage of response to alcohol. That means they have relatively little reaction to booze and need a lot of drinks to begin feeling an effect. These people -- sometimes described as folks who can drink everyone else under the table -- are also more susceptible to developing alcohol addiction.

Now a gene that may influence the reverse response has been found. Researchers reported Tuesday that a variant of the gene CYP2E1 influences a person's response to alcohol. But this gene variant causes people to react with high sensitivity to alcohol. A drink or two leaves them feeling inebriated. About 10% to 20% of the population are thought to carry this gene variant. Other research shows people who react powerfully to alcohol are less likely to become alcoholics.

The study advances the understanding of why several people become addicted and others do not. But genes aren't the whole story, said the lead author of the study Dr. Kirk Wilhelmsen, a professor of genetics at the University of North Carolina, Chapel Hill. "Alcoholism is a very complex disease," he said in a news release, "and there are lots of complicated reasons why people drink. This may be just one of the reasons."

The CYP2E1 gene encodes an enzyme that can metabolize alcohol. Unlike other enzymes that metabolize alcohol that work in the liver, this gene works in the brain. The gene and others that influence alcohol metabolism, might be used in the future to give people, particularly young people who have not yet started to drink, an idea of their odds of developing alcohol problems.