#pathway genomics

IBM, University of Illinois Next Generation Cognitive Computing Systems

C O N T E N T S:

KEY TOPICS

The C 3 SR will build and optimize integrated systems such as state-of-the-art cognitive computing systems modeled on IBM‘s Watson technology that can master a subject area by learning from multimedia and multi-modal educational content.(More…)

Pathway’s OME app then delivers personalized wellness insights to the user based on Pathway Genomics’ proprietary analytics of…

pathway and network analysis of complex ‘omics data

pathway and network analysis of complex ‘omics data

Larry H. Bernstein, MD, FCAP, Curator

LPBI

  While blood tests can be used to detect some cancers, the FDA said a San Diego company has no proof its blood test works in patients who have not already been diagnosed with some form of the disease.

WASHINGTON, Sept. 25 (UPI) — A San Diego company selling an early cancer detection test was notified…

Confessions of a 9.8

Following a brief but much-needed summer hiatus, I’m back and ready to roll. Today I am honored to have my friend, and editor, Jessica Swift as my guest on the blog. She is here to share a powerful story that will resonate with many readers. I could ramble on about how amazing Jessica is an editor, writer, and person but instead—I’ll let you see it through the passion in her words. Enjoy the post…

A genetic test can be found for any one of about 1,300 conditions, and three to five new tests emerge every month.

Millions of people, from cancer patients to would-be parents, have tapped into these tests to reveal what is making them sick or could sicken their children.

Two-thirds of doctors report that the technology has helped them identify diseases they couldn't have identified otherwise, according to a survey commissioned by health care giant UnitedHealth Group. The survey is part of a study that concludes that a $5 billion-a-year market in genetic testing is poised to mushroom to $15 billion to $25 billion within a decade.

"Genetic science offers unprecedented potential to prevent disease and improve diagnosis and treatment, ushering in an era of truly personalized care," Simon Stevens, UnitedHealth's executive vice president, said in a prepared statement.

Local doctors and other health care professionals echo that sentiment, saying they have seen the benefits of genetic testing firsthand and are eager to see more breakthroughs.

But they also note the concerns, mapped out in the study, that come with this explosion of knowledge and possibilities:

Gathering enough genetic information to create personalized treatments that work, and making sure doctors know about them.

Ensuring patient privacy and preventing genetic discrimination.

Addressing the potential for skyrocketing health care costs.

Testing related to cancer

Genetic testing is commonly used two ways: to determine a person's predisposition to disease from the womb to adulthood, and to fine-tune treatment of an existing ailment based on the disease's genetics.

In the survey, more than two-thirds of doctors reported recommending genetic testing related to cancer.

Until recently, what we knew about a person's cancer came from what could be seen under a microscope and inferred from family history. Chemotherapy was typically the blanket attack, but it can cost up to $100,000 a year and is not necessarily effective.

"For solid tumors, the likelihood of actually shrinking the tumor with standard chemotherapy is less than 50 percent," said Dr. Robert Green, an oncologist with the Palm Beach Cancer Institute in West Palm Beach.

But in recent years, genetic testing has delivered information about various cancer mutations. Scientists have used that information to find treatments to target them.

"If someone comes to me with a new diagnosis of lung cancer, I will now always send them for testing for certain mutations because there's a drug out there," Green said. "For melanoma, you never checked before and now you do it on everyone."

There's still a long way to go, Green and others caution.

Even if a genetic test can spot a disease, a treatment may not be available. According to the UnitedHealth Group study, scientists have come up with more than 1,000 tests for about 2,500 conditions, but only 400 of those tests have proven treatments.

Prenatal, newborn tests

Not everyone is looking to treat an existing illness. Nearly half the doctors surveyed reported recommending tests for expectant parents and newborns.

"The technology has just changed so much," said Dr. Danielle Esters, a clinical geneticist at the Maternal Fetal Center in Wellington.

Doctors can test for more diseases and do it earlier. Detection rates for diseases such as spina bifida, Down syndrome and cystic fibrosis have increased sharply. Testing for other disorders such as Fragile X, a leading genetic cause for mental retardation and one cause of autism, are now available, Esters said.

Some adults are tipped off early about the need to test a fetus. In some cases, they choose not to become parents.

"People have the impression we're doing prenatal screening and if things aren't right, we're going to have an abortion, but that's not always true," said Esters, who estimated that about half of her patients go that route. "A lot of patients continue with the pregnancy, but it's important they know. They can start putting their ducks in order with their family, their doctors, support groups."

The genetic test that most women have heard about is one that can identify a hereditary form of breast cancer - the test for mutations in the so-called BRCA genes. Mutations in those genes also can lead to increased risk of ovarian cancer.

"I have practiced oncology for 25 years as a nurse and this has made a difference," said Robin Stevens, who counsels patients at the Palm Beach Cancer Institute. "It is providing answers. It also offers an opportunity for prevention."

But the discovery highlights both the upside and downside of genetic testing.

With this information, millions of women with a family history of breast and ovarian cancer now can point to its cause. They can be tested and make medical decisions accordingly, such as whether to have their ovaries removed after bearing children, whether to avoid hormone therapy or remove breast tissue before cancer develops. had died of breast cancer at 33, but it wasn't until her older sister developed cancer and subsequently tested positive for a BRCA mutation that she realized her own health could be in danger. A genetic test confirmed it.

Shainman, at the time a 40-year-old mother of two, chose to have a hysterectomy and surgical removal of her breast tissue.

"I still am constantly checking and feeling, but I'm relieved," she said, adding that her chances of getting breast cancer "went from potentially 87 percent down to 3 percent. And I won't get, or die from, ovarian cancer."

Each year, about 200,000 women in the U.S. are diagnosed with breast cancer. The National Cancer Institute reports that the hereditary form, which ran in Shainman's family, accounts for 5 percent to 10 percent of cases.

Also, the cost to test the BRCA genes can be steep - $3,400 or more. Only one company does the testing.

Health care spending

The UnitedHealth study indicates that nearly two-thirds of doctors surveyed believe the surge in testing would increase spending on health care. The company's analysis of its own claims indicates that its genetic testing costs increased by 14 percent from 2008 to 2010.

The study also concludes that more Americans need to be tested. The more data collected, the easier it will be for researchers to create effective treatments.

"In order to understand what's going to work for which patients, you need to study patients," said Dr. William Dalton, chief executive of Moffitt Cancer Center and Research Institute in Tampa. "I'm talking hundreds of thousands of patients."

Six years ago, Moffitt began collecting genetic data on six of the most common cancers and following patients and their cancers through their lifetime. The center collects data at 18 sites in 10 states and now has information from 86,000 patients, Dalton said.

"This is something that must continue to grow," he said. "Now we are getting information and beginning to be able to predict who is responding to what."

Finally, people must keep in mind that having a genetic predisposition to a disease is not the same as having the disease. There's an entire branch of science that studies what turns on a gene.

Ensuring that patients who get tested are properly counseled promises to be another challenge.

By the study's count, only 3,000 clinicians and 1,400 physicians in the U.S. are board-certified to conduct genetic counseling.

"While genetics are incredible, and that's what I do, I think anybody who thinks this is the end-all, be-all and the answer to all men's ills is wrong," Dalton said.

"A major cause of cancer is still cigarettes. It causes not only lung cancer, but bladder cancer and others as well. And then there's obesity. All those things can be controlled in other ways."

Source:  Isger, S. (2012, April 6). Genetic testing
 on brink of boom . Retrieved from http://www.wptv.com/dpp/news/science_tech/genetic-testing-on-brink-of-boom 

Some people attend gyms, play sports or run in parks during the week but, on reaching the end of the month in the balance the result is almost nil. So, ads appear miracle products that help burn more calories during exercise and lost several pounds in a short period of time: the thermogenic. The public relies on these substances, and are not miraculous, can bring serious risks to health.

"The friend arrives, says he took pills and lost weight so many pounds, then purchase and the other begins to take. But her friend Malhou like crazy, so lost and the other not," exemplified the endocrinologist Tertius Rock. According to him, the products sold thermogenic promises which can not meet, for example, elimination of fa

t. "The thermogenic increases the ability to shed calories and raises the temperature inside the body," defined the professional.

The problem begins when, while using the product, the result is not obtained. "Without exercise, thermogenic not help," said Rocha. Then one increases the dose and is subject to tachycardia, hypertension, stroke, mood changes, insomnia, anxiety, shortness of breath, liver problems and kidney complications in the lungs and heart failure, according to the endocrinologist.

The main substance is thermogenic ephedrine - banned in Brazil and the U.S. - according to the department chair of obesity of the Brazilian Society of Endocrinology and Metabolism, Rosana Radominski. In Brazil, the supplements are made from caffeine, she said. However, unlike ephedrine and amphetamine - which affects more aggressive - the body adapts easily to caffeine, so it ceases to increase caloric expenditure in the body.

Action in the body

The thermogeni

c increase body temperature and heartbeat, which gives more energy and willingness to perform physical activities. "The person becomes agitated," said Rosana. The blood circulates in higher speed occurs in the body and dilation of the veins. However, Rosana said that the amount of thermogenic substances in supplements is settled below the required weight loss.

"Ephedrine help you lose weight if ingested in high doses, but there are risks," she said. Thus, the effect of these products is like a placebo, said endocrinologist. The same applies to supplements based on L-Carnitine and Taurine - amino acids already produced by the body. "They also do not increase energy expenditure and not help with weight loss," said Rosana.

According to the trainer Bruno Franco, the thermogenic based on ephedrine and amphetamine have a more rapid effect, however, sold today made with licit substances, do not cut either end. "The levels of taurine and caffeine are low, so very little thermogenic increase caloric expenditure," he said. Increasing the dosage to compensate for the concentration of the substance is a high risk to health, it warned.

The thermogenic not addictive, because instead of "please" the brain, causing irritation, explained the endocrinologist. "One can only feel tired if you stop taking," she said. The professional said that "there is no drug without side effects." For her, one must consider the risks versus the benefits. In the case of thermogenic, "the loss of does not exceed 2kg everything to cause the substance in the body."

Healthy Weight Loss

A study conducted by U.S. colleges UCLA, Stanford and Harvard found that by passing an examination in saliva is possible to trace the exercises and diet ideal for a particular individual. Known as Pathway Fit, "the review is to analyze the genotype and shows the right path to better fitness," said Tertius Rock endocrinologist.

He said research shows that diet made based on the outcome of the Fit Pathway provides a weight loss 3.2 times more intense than ordinary (not based on genetic information). The analysis also indicates the years and the most appropriate according to rock, it is possible gain of 1.8 times more activity in certain muscles. In Brazil, the test is called the genomic landscape and is done in major laboratories in the country "The result is ready in 30 days and the person takes you to a nutritionist and a personal trainer," added the trader.

Although the thermogenic supplements are not recommended, coffee, guarana, white tea, cinnamon, ginger - all thermogenic - can be beneficial when consumed in balanced doses. The foods listed do not guarantee weight loss, but provide energy for exercise, according to endocrinologist Tertius Rock.

[[posterous-content:pid___0]]Surveys will be distributed to consumers of personal genomic services

As genetic risk information plays an increasingly important role in the diagnosis and treatment of many diseases, private companies have made personal genomic testing for these risk factors widely available to the public. However, very little data has been gathered to understand the motivations and expectations of consumers of personal genomic services, the psychological and behavioral impact of these services, and the associated ethical, legal and social issues-until now. The Impact of Personal Genomics(PGen) Study, one of the first major studies to prospectively examine the impact of consumer genomics, is prepared to launch its data collection phase.

With funding from the National Human Genome Research Institute, joint Principal Investigators Robert C. Green, MD, MPH of Brigham and Women's Hospital and Harvard Medical School and J. Scott Roberts, PhD of the University of Michigan School of Public Health teamed up with leading personal genome testing companies 23andMe and Pathway Genomics Corporation to launch PGen.

"The goal is to produce results that can be translated into recommendations to guide policy and practice in this rapidly emerging area," said Green.

The group leading PGen will survey consumers of personal genome testing to identify their motivations, expectations, and attitudes, as well as their responses to learning their genetic disease risk, carrier status, and drug response results.

PGen is set to launch with the distribution of surveys to new consumers of personal genomic services. PGen will enroll 1,000 participants in all: 500 customers of Pathway Genomics and 500 customers of 23andMe. Researchers will then be able to compare survey responses to the genetic results, providing unique insight into the risks and benefits of personal genomic services.

"There has been considerable speculation, but not a lot of data, to inform the debate about the possible benefits and harms of personal genomics services," says Roberts. "We hope that our study will help to bridge this evidence gap."

To carry out the research, Green and Roberts assembled an interdisciplinary team of experts with backgrounds in medicine, genetics, genetic testing policy and practice, health communication, genetic counseling, health psychology, health law, bioethics and web survey design, many of whom have worked together on related prior research.

At the end of the project, the PGen team expects to understand: (1) who seeks personal genomic testing and why; (2) the impact of test results on psychological response, risk perception and comprehension, and personal utility; and (3) what consumers do with their genetic information (i.e. make health behavior or insurance changes, seek further information or communicate with family and health care providers).

source hxxp://www.news-medical.net/news/20120305/PGen-study-to-examine-impact-of-consumer-genomics.aspx