Allegra

A U.S. researcher says he was able to sequence his entire genome for less than $50,000, with the help of only two people.

“This is the first demonstration that you don’t need a genome center to sequence a human genome,” Stephen Quake, a professor of engineering at Stanford University, said in a news release from the school. “It’s really democratizing the fruits of the genome revolution and saying that anybody can play in this game.”

The first complete mappings of human DNA were achieved in 2001. Each completed genome cost hundreds of millions of dollars and required more than 250 people. Even in 2008, the lowest reported cost of sequencing a human genome was $250,000 and still required almost 200 people.

Quake’s genome was sequenced using a commercially available, refrigerator-sized instrument called the Helicos Biosciences SMS Heliscope. Quake pioneered the underlying technology of the instrument and is co-founder of the company.

The study appeared online Aug. 9 in the journal Nature Biotechnology.

“This can now be done in one lab, with one machine, at a modest cost. It’s going to unleash an enormous amount of creativity and really broaden the field,” Quake said.

Lowering the cost and effort involved in sequencing individual human genomes is important for a number of reasons, said Quake. The more examples of whole human genomes scientists have, the more they can learn about how specific genes and mutations result in certain traits, diseases and responses to medicines.

As the cost of determining an individual’s genetic code decreases, doctors may be able to sequence individual patient’s genomes and provide personalized medicine in which the patient’s genetic profile would influence the prevention and treatment of disease.

Breast cancer patients with isolated tumor cells or tiny “micrometastases” in the lymph nodes benefit from adjuvant treatment, such as post-surgical chemotherapy or hormonal therapy, a new study finds.

Until now, many doctors doubted that the presence of micrometastases or isolated tumor cells affected long-term recovery, said Dr. Vivianne Tjan-Heijnen, head of the division of medical oncology at Maastricht University Medical Center in the Netherlands, the lead author of the study.

So these patients often are not offered adjuvant therapy after they undergo breast cancer surgery. But the results of her team’s study, published in the Aug. 13 issue of the New England Journal of Medicine, suggest they should be.

Micrometastases, which are too small to be seen on standard screening or diagnostic tests, range from 0.2 to 2.0 millimeters in size. Isolated tumor cells or tumor cell groups are even tinier, less than 0.2 millimeters, said Tjan-Heijnen.

To assess the value of additional treatments of chemo or other adjuvant methods, Tjan-Heijnen and her colleagues followed 2,707 women treated surgically for early-stage breast cancer. They were divided into three groups. The first group included 856 women diagnosed with breast cancer whose sentinel node — the first node the breast tissue drains into — was negative and cancer-cell free, who didn’t get additional treatment. The second group included 856 women diagnosed with breast cancer with cancer cells found in the nodes, but who didn’t get additional treatment. The third group included 995 patients with cancer cells found in the nodes who did get additional treatment.

The additional treatment included chemotherapy (such as taxanes), endocrine therapy (such as tamoxifen or aromatase inhibitors), or systemic therapy (both chemo and endocrine).

The researchers followed the women for a median of 5.1 years (half followed longer, and half for less time) to see if the extra therapy reduced cancer recurrence and increased disease-free survival. They associated the tiny metastases and isolated tumor cells with an absolute decline in five-year disease-free survival of 10 percent. In other words, those with the tiny cancer cells present who are treated with additional therapy had a nearly 10 percent improvement in disease-free survival at five years, they found.

“So, five years after the diagnosis of every 100 patients with micrometastases or isolated tumor cells, 10 more will have a disease event compared with 100 patients with comparable primary tumor characteristics who did not have metastases in the axillary nodes,” Tjan-Heijnen said.

The study proves that the micrometastases and the isolated tumor cells are important considerations when evaluating the prognosis, she said.

Cancer specialists have debated how to treat a patient with these small metastases and isolated tumor cells, said Dr. Minetta Liu, director of translational breast cancer research at the Georgetown University Lombardi Comprehensive Cancer Center in Washington, D.C.

The study results suggest that “looking for these cells may be another tool to determine how likely a recurrence is,” she said. But more study is needed to validate the findings, she added.

Dr. Hannah Linden, a medical oncologist and associate professor of medicine at the University of Washington School of Medicine in Seattle, said the study results could change current practice. “If these findings are true, they will influence decision making significantly, and help us know which patients really ‘need’ chemo to give them an advantage in reducing the risk that the tumor recurs,” she said.

No matter how clean your home is, tiny insects called dust mites may still live in mattresses, carpets, furniture and pillows.

Many people are allergic to dust mites, which can trigger symptoms such as congestion, runny and itchy nose, and sneezing. Mites also can worsen asthma symptoms.

The American Academy of Family Physicians offers these suggestions to minimize the misery of dust mites:
Each week, wash all bed linens in hot water. This includes blankets, sheets and pillows.
Carpets can harbor dust mites, so opt for wood, linoleum or tile flooring in the bedroom.
Vacuum carpets, rugs and upholstered furniture each week.
Dust your home at least once weekly.
Buy washable stuffed animals for your children, and wash the stuffed animals frequently.
Talk with your doctor about whether it’s a good idea to take an antihistamine and/or decongestant to help manage allergy symptoms.

Although sudden deaths occur in competitive lacrosse at about the same rate as in baseball and football, deaths caused by a strong blow to the chest are more common in lacrosse, new research shows.

Lacrosse has swept up about a half-million young participants in the United States, making it the fastest-growing youth sport in the country. The hard rubber balls used in the sport can travel as fast as 100 miles an hour, and contact also occurs between a lacrosse stick and an opponent’s body, called a “body check.”

But hard hits to the chest, according to the American Heart Association, can cause what’s called commotio cordis, a Latin term meaning “commotion of the heart.”

“There are risks to young athletes [playing lacrosse], but these are, overall, no greater in lacrosse than in many other sports,” said Dr. Barry Maron, lead author of a study on the subject in the Aug. 10 issue of Pediatrics. Maron is director of the Hypertrophic Cardiomyopathy Center at the Minneapolis Heart Institute Foundation.

“There is a risk for commotio cordis events in lacrosse players which appears to be somewhat greater, and this raises the issue of an effective chest protector since commercially available barriers have not been proven to be absolutely protective,” he said.

Dr. Larry Chinitz, director of clinical cardiac electrophysiology at New York University Langone Medical Center in New York City, said the condition requires a direct blow to the chest.

“Basically, you get knocked in the chest and it creates an electrical signal into the heart,” he explained. “It can precipitate bad arrhythmia.”

Maron and his fellow researchers analyzed data from the Sudden Death in Young Athletes Registry from 1980 to 2008, which included information on 23 cases of sudden death or cardiac arrest in high school and college lacrosse players, who were 18 years old on average.

Of that group, 19 died — 10 after being hit in the chest, including four goalies who were wearing chest protectors. Most of the others who died had preexisting heart disease, the study reported.

The overall mortality rate for lacrosse was about the same as that found in basketball, baseball, football and other sports involving physical contact, although higher than that seen in softball, swimming and track and field.

But the mortality rate for deaths attributed to commotio cordis was higher in lacrosse than in all other sports except hockey. It accounted for 43 percent of all deaths in the sport, according to the study. Deaths from commotio cordis occurred in lacrosse at more than double the rate for baseball, about 15 times greater than for football, 20 times greater than for soccer, 42 times greater than for wrestling and 54 times greater than for softball.

Wearing a chest protector is not mandated in all locales, though “there’s no question chest protectors are the best way to go,” Chinitz said. “They’re just a hassle to wear.”

The study’s authors also contended that commercially available chest protectors are not adequate. Several researchers indicated that they were working on better versions.

Steve Stenersen, president and chief executive of U.S. Lacrosse, the governing body for the sport, stated that the organization “has made this issue a priority for a number of years, and we have coordinated, funded and/or supported a number of educational and research initiatives focused on commotio cordis.”

The organization is trying to set up manufacturing standards for chest protectors that would reduce the risk of commotio cordis, he said, and also is working to reduce the price of automatic external defibrillators for the lacrosse community.