Study Finds Male Fertility Genes

May 25, 2012

Connie K. Ho for RedOrbit.com

A new report published in the American Journal of Human Genetics (AJHG) states that previously undiscovered male fertility genes were identified and the new findings provide more information regarding human production.

The study, conducted by University of Chicago researchers, hopes to shine some light on the issue of male infertility.

Much of the research on fertility has looked at studies dealing with infertile participants. Likewise, it is thought that a certain stigma is attached to the subject of infertility because there isnt enough knowledge regarding the scientific causes of male infertility. As such, almost a quarter of infertility cases are unexplained.

Non-genetic factors, including alcohol and tobacco use, particular medications, and disease history, are also though to affect infertility.

Such studies have not been able to identify genes or pathways contributing to variation in natural human fertility, commented Carole Ober, the lead author of the study, in a prepared statement.

Obers past research has focused on finding genes that impact complex phenotypes to bring more understanding to evolutionary history and how the variations in genes can influence their functions. Besides the issue of fertility, her lab has examined phenotypes that are linked to common diseases. The studies on common diseases have highlighted phenotypes related to asthma and heart disease.

For this project, Ober and Glm Kosova, a graduate student at the University of Chicago, studied the Hutterites, a founder population. The Hutterites are a branch of Anabaptists that keep to specific religious and social beliefs.

The Hutterite environment is so remarkably uniform, Ober said in a University of Chicago article Medicine on the Midway when addressing the culture of sharing food and goods among the Hutterites.

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Study Finds Male Fertility Genes

Obamacare: Secret Deals and Broken Promises – Video

23-05-2012 15:55 In 2008, then-Candidate Barack Obama promised to usher in an era of transparency, "put an end to the game playing" in Washington, and broadcast health care negotiations on C-SPAN. The Energy and Commerce Committee launched an investigation more than a year ago to allow Congress and the American public to understand whether he upheld his promises when writing legislation that fundamentally transformed the nation's health care system. This video examines those promises and the confusion and conflicting information surrounding the closed-door negotiations that led to enactment of the law.

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Obamacare: Secret Deals and Broken Promises - Video

Incontinence Treatment: Alexis Chesrow, MD: Aurora Health Care – Video

24-05-2012 14:51 Alexis Chesrow, MD, of Aurora Health Care discusses urinary stress incontinence on The Morning Blend on May 24, 2012. This common pelvic floor disorder affects one third of women and is treated at the Center for Continence and Pelvic Floor Disorders at the Women's Pavilion in West Allis, Wisconsin.

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Incontinence Treatment: Alexis Chesrow, MD: Aurora Health Care - Video

PoliGraph: Bills health care law claim leaves out key details

Posted at 2:00 PM on May 23, 2012 by Catharine Richert (3 Comments) Filed under: PoliGraph

Last weekend, Republicans endorsed Rep. Kurt Bills to run against U.S. Sen. Amy Klobuchar this fall. If elected, Bills says cutting government spending will be one of his top priorities.

To stress just how bad things have gotten in Washington, D.C., Bills pointed to the rising cost of the new health care law.

"You have to look at Obamacare that was projected to spend $800, $900 billion and is now at $1.7 trillion," Bills told MPR's Mark Zdechlik in an interview May 21.

It's true that the latest gross cost estimate of the new health care law is about $1.7 trillion, but that's only part of the story.

The Evidence

To make his case, Bills relied on a recent estimate from the non-partisan Congressional Budget Office that pegged the gross cost of the health care law at about $1.76 trillion between 2012 and 2022.

In 2010, the CBO projected the gross cost of the law to be $938 billion between 2010 and 2019. In part, the initial 10-year cost was lower because many of the law's key provisions don't go into effect until 2014, ramping up in subsequent years.

But Bills' claim leaves out an important point.

The health care law also collects new revenue to help pay for it, including fees paid by those who don't have insurance and some employers who don't offer coverage, taxes on top earners and provisions meant to slow the growth of Medicare, among other offsets.

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PoliGraph: Bills health care law claim leaves out key details

‘Obamacare’ Impact on Healthcare ETFs

SPDR Health Care Select Sector (XLV - News) has been showing signs of an uptrend as companies within the index have dividend yields and decent valuations. The pending Supreme Court healthcare reform decision will eventually steer the healthcare sector.

Year to date through May 18, XLV was u 4.6%. This was near the 4.3% increase in the health care sector of the S&P 500 index, and ahead of the 3.0% gain for the S&P 500 Index. Interestingly, six of the 10 sub-industries in the sector were ahead of the broader benchmarks return, led by Healthcare supplies and Biotechnology, but this was partially offset by the larger Pharmaceuticals sub-industry, which was up only 0.9%, Todd Rosenbluth, S&P Capital IQ ETF Analyst wrote in a recent MarketScope Advisor note. [Checking up on Health Care ETFs]

The ETF XLV has stakes in some of the biggest names in health care: Johnson & Johnson, Pfizer, Abbot Laboratories and Merck. About half of the portfolio is dedicated to pharmaceuticals, followed by Healthcare equipment and Biotechnology. [Healthcare ETFs Look to Supreme Court Ruling]

Going forward, a decision to uphold the Healthcare reform law, or to vacate all or part of the law is due in mid-June of this year. Jeff Loo, head of Healthcare equity research for S&P Capital IQ, says there are three potential scenarios that would materialize from a decision: [Defensive ETFs for a Market Pullback]

Rosenbluth reports that the sector ETF is positioned to fare well if either scenario 1 or 2 plays out. The strength of the companies that the fund holds will keep performance steady, while the dividend yield is another plus. The fund yields 2.5%.

SPDR Health Care Select Sector

Picture 1

Tisha Guerrero contributed to this article.

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‘Obamacare’ Impact on Healthcare ETFs

Senator Slams Possible Health Care PR 'Blitz'

The Department of Health and Human Services'recently signed $17.6 million dollar contract with public relations firm Porter-Novelli, to tout the Affordable Care Act, is coming under congressional scrutiny.

Sen. Rob Portman, R-Ohio, has written a letter to HHS Secretary Kathleen Sebelius asking for details on how that money will be used.

"If you're trying to educate the public as to how to comply with a specific law, there might be a purpose in it," Portman told Fox News. "If, on the other hand, you're doing a PR blitz to try to sell a program during an election year, that seems to me to be more in the realm of something a political organization should be paying for rather than us as taxpayers."

In the interest of belt-tightening, Portman and Sen. Claire McCaskill, D-Mo., earlier this year wrote to 12 federal agencies asking for an accounting of any taxpayer money spent on public relations, publicity and advertising. Ten of 12 agencies complied with their request. The Department of Health and Human Services did not, leading to Portmans new inquiry to Sebelius this week.

The HHS website describes the purpose of the Porter-Novelli contract as"a national integrated multi-media campaign education campaign that promotes the preventive healthcare benefits availableto all Americansas a result of the Affordable Care Act."

As written, the Health Care Law actually requires "A national science-based media campaign on health promotion and disease prevention..." But it does not stipulate how much should be spent on any such campaign.

Previous administrations have also been criticized for ad campaigns. Senate Democratsdemanded that the George W. Bush administration return $240,000of taxpayer money that was paid to conservative commentator Armstrong Williams to promote "The No Child Left Behind Act." The Bush Administration alsospent well over a hundred million dollars in 2003 to inform seniors about the Medicare Prescription Drug Plan.

Tom Schatz of Citizens Against Government Waste says the timing of the new $17.6 million dollar HHS contract to promote the Affordable Care Act is deeply suspicious.

"If part of the health care law is found to be unconstitutional, and it's something that they're advertising, then it's been a big waste of money," he said. "The real purpose of this seems to be to promote the president's achievement with the health care law in the hope that this might assist in his reelection."

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Senator Slams Possible Health Care PR 'Blitz'

Health care for poor slashed by lawmakers

Hundreds of thousands of people would see their health care cut back or even eliminated under legislation approved Thursday by Illinois lawmakers in a desperate attempt to shore up the states crumbling budget.

The Medicaid cuts include ending a prescription drug program for senior citizens, halting two programs that provide health insurance for about 35,000 people, and restricting access to services from heart bypass operations to wheelchair repairs.

Opponents said the cuts will mean suffering and death for some of the 2.7 million people who get care under Medicaid.

Im begging you, representative, for the life of the people who are going to die as a result of this legislation. Im begging you. Please, let us do something different, Rep. Mary Flowers, D-Chicago, said to the measures sponsor.

Rep. Sara Feigenholtz, D-Chicago, said the Medicaid program will fall apart without fast action. Helping the states poor in the long run requires cutting back now, she said.

I know it seems ironic, but this is the only way we can accomplish that, Feigenholtz said.

The measure passed 94-22 and went to the Senate, where it was approved on a 44-13 vote. The next stop is Gov. Pat Quinn, who supports the proposal.

Its part of a package meant to fill a Medicaid shortfall of $2.7 billion, or nearly $1 in every $5 the program spends.

Service cuts would save about $1.3 billion. Payments to hospitals, nursing homes and other Medicaid providers would be trimmed by an additional $240 million. In a separate bill, lawmakers will consider more than doubling the state cigarette tax to bring in more money.

Republican opposition has left the outcome of the tax vote in doubt.

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Health care for poor slashed by lawmakers

Coding Contest Shows How Big Data Can Improve Health Care

A recent coding competition in the Boston area brought together IT professionals, medical workers and others with an interest in health IT to show how data analytics can improve health care.

The Health 2.0 Boston Code-a-thon, held May 11 and 12, featured approximately 85 participants who formed groups to create, in approximately one day, an application that turns large amounts of health care data into useful information for patients and care providers.

The winning team created the No Sleep Kills website, where people can access information on how poor sleeping patterns can lead to drowsy drivers and auto accidents. The website aims to draw attention to the link between sleep apnea, a condition in which people temporarily stop breathing during sleep, and vehicular crashes.

Given the content's time constraints, Joel Sutherland and Guy Shechter, two members of the winning four-person team, noted that the site is still under development. They, along with team members David Dinatale and Amber Zimmermann, hope to incorporate additional information sources, allowing the site to offer deeper analysis.

Shechter wants to incorporate anonymized patient data from Athena Health, an event partner that offers health-care providers electronic medical record software.

"The whole goal of getting more health data digital is so you can start doing meaningful things with data," Shechter said. "If we can get access to Athena Health data on actual patients we can extract some of the risk factors we are looking at."

For now, people who visit the site can enter personal information, including age, weight and number of poor sleep nights, to determine if they are sleep deprived. For medical professionals, the portal offers information on determining whether their patients have poor sleep patterns.

The team would like the site to eventually include Medicare cost data to show that sleep apnea testing may help lower health care costs.

Data analysis highlights how a common health issue has consequences that can greatly impact lives, explained Sutherland, who works for Mitre, which manages U.S. government research centers, but who entered the contest as an individual.

"We need action items that say this is a problem," he said. "Here we can show that paying attention to sleep apnea improves fatal crash rates. If you can show that, then policy makers can say this work actually saves lives more than just treating sleep apnea."

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Coding Contest Shows How Big Data Can Improve Health Care

Health care move panned

Change leaves care of disabled patients on Medicaid to trio of managed care companies

For the second time in two years, the state Department of Health and Human Resources is under fire for plans to change how it handles the care of tens of thousands of vulnerable West Virginians.

Critics worry the agency is in a rush to turn over the care of a group of 57,000 elderly or disabled Medicaid patients to three health insurance companies.

The critics question whether DHHR has carefully thought out the plan. And they wonder if the companies are experienced enough to deal with the vulnerable population they are about to be handed.

Beginning in December, the state will gradually begin moving patients who receive Supplemental Security Income into managed care. Managed care, like a private sector HMO, attempts to coordinate health care while controlling costs.

The three companies - Carelink, The Health Plan and Unicare - already manage care for 170,000 Medicaid recipients. Medicaid is the state and federal health insurance program for low-income people.

But SSI recipients have a different and more expensive set of medical needs than the normal welfare population. To qualify for SSI, a person must be aged, blind or disabled, a category that includes people with serious mental disorders.

"This is our most fragile population and probably also our most costly population," said DHHR spokesman John Law.

That means managing their care could be more challenging than for other patients.

There are basically two reasons to put people into managed care.

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Health care move panned

Column: Health care obstacle for McPherson’s poor

Last Thursday, I had the opportunity to sit in on a health care panel discussion organized by STEPMC. STEPMC is a nonprofit organization that provides support to families in poverty as they try to better their circumstances. STEP has a Big View committee, which I recently joined as a volunteer, that attempts to look at overreaching community issues that tend to keep families in poverty. During more than a year, the STEPMC families, called Circle leaders, designated lack of affordable health care as one of their greatest barriers to success. The individuals who sat on this panel included, Rob Monical, CEO at McPherson Hospital; Matt Schrader, therapist at Prairie View; Shelia Gorman MD in McPherson; Marla Ullom-Minnich MD in Moundridge; and Ken Cotton, dentist. One of the repeated themes of the discussion was a desire to have an urgent care clinic in McPherson. Area communities, such as Newton and Lindsborg, both have opened clinics with extended evening and weekend hours. Urgent care clinics generally offer similar services to doctors offices. The extended hours mean residents with minor ailments, such as ear infections, can avoid costly trips to the emergency room, which can cost in hundreds of dollars. The members of the panel said there has been no discussion to this point about creating an urgent care clinic in McPherson. Panel members said it likely would need to be a cooperative effort between the hospital and the local physicians. The urgent care model has been successful in metropolitan areas for some time. It is a waste of our community health care dollars to rely solely on the emergency room for minor illnesses and injuries that come up during nonbusiness hours. Such a clinic would not only be a benefit to McPhersons poor, but all community residents. The audience asked several questions about the possibility of bringing specialists into the community, specifically a pediatrician and an OB/GYN. Monical and Gorman explained bringing a specialist into a community is more difficult than residents might imagine. Recruiting a single specialist to a rural community is difficult enough, but most specialty practices need a least two physicians so that they can alternate nights on call. This means the community must have the patient load to support two physicians, not just one. The lack of specialists in the community means many community members must travel outside of the community to receive treatment. For some, this may be a minor inconvenience, but for families in poverty, this can be a serious problem. Many families in poverty have no or unreliable transportation or have few funds for gasoline, which makes travel outside the community to see a physician difficult. Monical said the hospital has worked with physicians to establish traveling clinics in McPherson and will continue to evaluate the possibility of bringing specialists to the community. If you dont have insurance, you may not be able to access a physician at all. Circle leaders said they had been refused service because of problems with billing and lack of insurance. Emergency rooms cant legally refuse service to individuals, and Gorman said she was disturbed to find physicians were refusing patients who did not have insurance. Patients who do not have insurance already are billed at the highest rate in the health care system. Insurance companies negotiate lower rates for those of us who have insurance, but if someone doesnt pay the full price, there cant be a negotiated lower price. Unfortunately, that ends up being the poor. McPherson is a prosperous community, and the fact there are members of the community who are denied access to health care based on their socio-economic status is unconscionable. Chad Clark, director of the McPherson Healthcare Foundation, discussed the establishment of a community health care fund that could help those who do not have insurance with health care costs. The hospital also provides thousands in charitable funds to those in need every year. However, for families who rely on minimum wage or low-wage jobs for income, health insurance remains out of reach. Health care will continue to be an issue for these families until some greater global solution to make health insurance more accessible is found.

Cristina Janney is the managing editor of The McPherson Sentinel. She can be reached at cristina.janney@mcphersonsentinel.com.

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Column: Health care obstacle for McPherson’s poor

Why Genetic Tests Don’t Help Doctors Predict Your Risk of Disease

Your DNA may hold valuable information about your health, but current genetic tests can't improve doctors' ability to predict your risk of major disease.

Don Bishop / Getty Images

Our genome the blueprint for what makes us who we are can provide valuable clues about our health and potentially help us predict our risk for various diseases. But a new study shows that knowledge of our DNA isnt actually as revealing as doctors hoped.

In a report published in the American Journal of Human Genetics, scientists at the Harvard School of Public Health found that incorporating genetic information did not improve doctors ability to predict disease risk above and beyond standard risk factors, including things like family history, lifestyle and behavior. So, having detailed genetic information didnt change doctors prevention or treatment plans.

For most people, your doctors advice before seeing your genetic test for a particular disease will be exactly the same as after seeing your tests, Peter Kraft, a co-author of the paper and an epidemiologist at the Harvard School of Public Health, said in a statement.

The researchers looked at risk factors both genetic and environmental for three common, chronic diseases, breast cancer, Type 2 diabetes and rheumatoid arthritis. All conditions are known to be influenced by some genetic and some lifestyle factors. The researchers wanted to determine whether adding information about the interplay of these factors would improve the sensitivity of disease risk prediction.

(MORE: Genetic Testing for Kids: Is It a Good Idea?)

For breast cancer, the scientists created a simulation that included 15 common genetic variants associated with increased risk of the disease, along with environmental factors, such as a womans age at first period, age when she gave birth to her first child and the number of close relatives affected by breast cancer. For Type 2 diabetes, researchers included 31 genetic variants, as well as lifestyle factors like obesity, physical activity, smoking status and family history of diabetes. Finally, for rheumatoid arthritis, they considered 31 genetic variants and two major lifestyle risk factors smoking and breast-feeding.

The researchers analyzed whether interactions among the genes, or interactions between genes and environmental factors, significantly changed the risk profile for any of these diseases. The disease models generated a variety of statistical combinations of genetic and environmental factors, but none produced any marked improvement in predicting disease risk over the lifestyle factors alone.

So, while genome sequencing has become a popular buzzword in medicine, the researchers conclude that given our current limited ability to interpret the genome or understand the complex interplay between genes and environment, getting genetic tests or whole-genome sequencing may not be as helpful as it could be when it comes to informing our health decisions. Even with the current list of 15 genetic variants associated with breast cancer, for example, scientists cant tell which variants are driving disease or are necessary to cause it, and which are merely along for the ride.

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Why Genetic Tests Don’t Help Doctors Predict Your Risk of Disease

Study: Knowing Genetic Makeup May Not Help Predict Disease Risk

BOSTON The great promise of the Human Genome Project is that if we can crack the genetic code in each of our cells, we may be able to predict what diseases we might get and prevent them. But more than a decade into this project, no medical miracles have been produced. Now, a new study by the Harvard School of Public Health has more disappointing news. WBURs All Things Considered host Sacha Pfeiffer spoke with the studys senior author, Peter Kraft, an associate professor of epidemiology at Harvard.

Sacha Pfeiffer: Your study looked at one of the possible key reasons for why simply mapping the human genome as huge a scientific accomplishment as that is might not alone be enough to start curing or preventing diseases. What else have researchers thought might be necessary to do that?

Peter Kraft: Weve actually been fabulously successful, in the last five years especially, in finding genetic variants that are associated with disease risk. But when people looked and asked the question, Do these actually help us predict whos going to be at high risk? the answer was mostly no. And one of reasons that might have been is that people looked at these variants in isolation, one at a time. But if you considered how they work together, and how they work together with the environment, to influence cancer risk or disease risk generally, people thought that might help boost the predictive ability.

So in terms of how genes work with other genes, or how genes react if you smoke, or if youre overweight, or if youve taken hormones that kind of thing?

Right, exactly. So the models up till now have assumed that a gene is a gene and its effect is the same whether you smoke or not. But, of course, that may not be the case and in fact probably isnt the case.

And so in your study you took those factors into account environmental and lifestyle factors. What did you find?

We sort of played a thought experiment and said, What if we knew how actually these things worked together? And given that information we tried to predict who was at high risk and who was at low risk. And we found that even knowing that information, which were a long way from knowing and understanding but even if we knew it, the change in the risk estimates would not be all that great. Its giving us a 1 to 3 percent increase of our ability to detect people who are at high risk.

Is that not a very useful increase?

Well, it depends on the context, but not necessarily. It seems to be in the range where your decision as a patient and your clinicians recommendations wouldnt really change that much. So given what they knew before they drew your blood and looked at your genetics, their recommendation would probably be the same.

So your study tells us that if we get our genes mapped, we might learn a little bit more if were at risk of a disease, but not very much to help our doctors. So where does that leave us in terms of our hopes for the Humane Genome Project and this idea that we could create personalized medicine customized for every individual?

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Study: Knowing Genetic Makeup May Not Help Predict Disease Risk

Nobelist Speaks Out on Genetic Modification, Synthetic Biology, Stem Cell Research

ASTANA, Kazakhstan, May 24, 2012 /PRNewswire/ --Sir Richard Roberts, the eminent British biologist and Nobel Prize laureate, said today European opposition to genetically modified organisms is political rather than scientific in nature.

He also said "personal medicine" based on human genome research holds large-scale promise to improve the health of the world's people on an individualized basis.

Roberts, who won the Nobel in 1993 for his shared discovery of split genes, made his remarks at the Astana Economic Forum, a global conference of scientists, academics, multinational executives and government leaders.

"On a political level, governments must embrace genetically modified organisms (GMOs) and not give way to European prophets of doom, who oppose the use of GMOs for purely political reasons," said Roberts. "It is important to note there is a complete absence of evidence that GMOs can cause any harm. Indeed to any well-informed scientist, traditionally bred plants seem much more likely to be harmful than GMOs."

Roberts predicted growing knowledge of the human genome will yield better medical treatments and diagnostics. "It is just as important that we learn more about the bacteria that colonize our bodies since they are an essential part of what it means to be human," he said.

He also predicated synthetic biology will enable scientists to build novel microorganisms from "scratch."

"Most exciting is the promise of stem cells where the challenge is to understand how they drive their differentiation into all of the other cell types in our bodies," Roberts said. "While I do not advocate prolonging life indefinitely, I am very much in favor of ensuring that as we age, the quality of our life does not diminish."

The annual Astana Economic Forum this year has drawn thousands of participants from more than 80 nations to this rapidly growing Central Asian nation. There has been much focus at the current sessions on the Greek financial crisis and turbulence in the Euro currency, in addition to the broader economic, scientific and international trade issues that are a traditional mainstay at Astana.

Deal making is a big part of both the official and the unofficial agenda at Astana. Multinationals represented include Chevron, Toyota, Nestle, Microsoft, BASF, Total, General Electric.

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Nobelist Speaks Out on Genetic Modification, Synthetic Biology, Stem Cell Research

Knowing genetic makeup may not significantly improve disease risk prediction

Public release date: 24-May-2012 [ | E-mail | Share ]

Contact: Marge Dwyer mhdwyer@hsph.harvard.edu 617-432-8416 Harvard School of Public Health

Boston, MA Harvard School of Public Health (HSPH) researchers have found that detailed knowledge about your genetic makeupthe interplay between genetic variants and other genetic variants, or between genetic variants and environmental risk factorsmay only change your estimated disease prediction risk for three common diseases by a few percentage points, which is typically not enough to make a difference in prevention or treatment plans. It is the first study to revisit claims in previous research that including such information in risk models would eventually help doctors either prevent or treat diseases.

"While identifying a synergistic effect between even a single genetic variant and another risk factor is known to be extremely challenging and requires studies with a very large number of individuals, the benefit of such discovery for risk prediction purpose might be very limited," said lead author Hugues Aschard, research fellow in the Department of Epidemiology.

The study appears online May 24, 2012 and will appear in the June 8, 2012 print issue of The American Journal of Human Genetics.

Scientists have long hoped that using genetic information gleaned from the Human Genome Project and other genetic research could improve disease risk prediction enough to help aid in prevention and treatment. Others have been skeptical that such "personalized medicine" will be of clinical benefit. Still others have argued that there will be benefits in the future, but that current risk prediction algorithms underperform because they don't allow for potential synergistic effectsthe interplay of multiple genetic risk markers and environmental factorsinstead focusing only on individual genetic markers.

Aschard and his co-authors, including senior author Peter Kraft, HSPH associate professor of epidemiology, examined whether disease risk prediction would improve for breast cancer, type 2 diabetes, and rheumatoid arthritis if they included the effect of synergy in their statistical models. But they found no significant effect by doing so. "Statistical models of synergy among genetic markers are not 'game changers' in terms of risk prediction in the general population," said Aschard.

The researchers conducted a simulation study by generating a broad range of possible statistical interactions among common environmental exposures and common genetic risk markers related to each of the three diseases. Then they estimated whether such interactions would significantly boost disease prediction risk when compared with models that didn't include these interactions since, to date, using individual genetic markers in such predictions has provided only modest improvements.

For breast cancer, the researchers considered 15 common genetic variations associated with disease risk and environmental factors such as age of first menstruation, age at first birth, and number of close relatives who developed breast cancer. For type 2 diabetes, they looked at 31 genetic variations along with factors such as obesity, smoking status, physical activity, and family history of the disease. For rheumatoid arthritis, they also included 31 genetic variations, as well as two environmental factors: smoking and breastfeeding.

But, for each of these disease models, researchers calculated that the increase in risk prediction sensitivitywhen considering the potential interplay between various genetic and environmental factorswould only be between 1% and 3% at best.

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Knowing genetic makeup may not significantly improve disease risk prediction

DARPA's Synthetic Army

DARPA, the science arm of the US Department of Defense, is trying to find a way to create a streamlined manufacturing process for purpose-specific engineering of plants and animals, reports Popular Science's Rebecca Boyle. This program, called Living Foundries, "sets up an assembly line paradigm for life and its constituent parts," Boyle says. "Under this program, genetic engineering would no longer be limited to modification of existing organisms instead, scientists would be able to concoct anything they wanted from scratch, using a suite of ingredients and processes that could apply in any situation." And DARPA's first grants for the program have just been announced $15.5 million spread among six institutions and companies, including the J. Craig Venter Institute. This last pick is particularly appropriate, she says, given the group's work in synthetic biology.

The purpose of the grants is to build a basic library of modularized parts that can be used in assembling various organisms, Boyle says, like wires or circuits that can be used to build electronics. "The ultimate goal is a genetic starter set that could be snapped together like so many Legos, forming any system the military might require," she adds.

Our sister publication GenomeWeb Daily News has more on the project here.

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DARPA's Synthetic Army

New genetic method pinpoints geographic origin

LOS ANGELES Understanding the genetic diversity within and between populations has important implications for studies of human disease and evolution. This includes identifying associations between genetic variants and disease, detecting genomic regions that have undergone positive selection and highlighting interesting aspects of human population history.

Now, a team of researchers from the UCLA Henry Samueli School of Engineering and Applied Science, UCLA's Department of Ecology and Evolutionary Biology and Israel's Tel Aviv University has developed an innovative approach to the study of genetic diversity called spatial ancestry analysis (SPA), which allows for the modeling of genetic variation in two- or three-dimensional space.

Their study is published online this week in the journal Nature Genetics.

With SPA, researchers can model the spatial distribution of each genetic variant by assigning a genetic variant's frequency as a continuous function in geographic space. By doing this, they show that the explicit modeling of the genetic variant frequency the proportion of individuals who carry a specific variant allows individuals to be localized on a world map on the basis of their genetic information alone.

"If we know from where each individual in our study originated, what we observe is that some variation is more common in one part of the world and less common in another part of the world," said Eleazar Eskin, an associate professor of computer science at UCLA Engineering. "How common these variants are in a specific location changes gradually as the location changes.

"In this study, we think of the frequency of variation as being defined by a specific location. This gives us a different way to think about populations, which are usually thought of as being discrete. Instead, we think about the variant frequencies changing in different locations. If you think about a person's ancestry, it is no longer about being from a specific population but instead, each person's ancestry is defined by the location they're from. Now ancestry is a continuum."

The team reports the development of a simple probabilistic model for the spatial structure of genetic variation, with which they model how the frequency of each genetic variant changes as a function of the location of the individual in geographic space (where the gene frequency is actually a function of the x and y coordinates of an individual on a map).

"If the location of an individual is unknown, our model can actually infer geographic origins for each individual using only their genetic data with surprising accuracy," said Wen-Yun Yang, a UCLA computer science graduate student.

"The model makes it possible to infer the geographic ancestry of an individual's parents, even if those parents differ in ancestry. Existing approaches falter when it comes to this task," said UCLA's John Novembre, an assistant professor in the department of ecology and evolution.

SPA is also able to model genetic variation on a globe.

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New genetic method pinpoints geographic origin

Researchers develop new genetic method to pinpoint individuals' geographic origin

Public release date: 23-May-2012 [ | E-mail | Share ]

Contact: Wileen Wong Kromhout wwkromhout@support.ucla.edu 310-206-0540 University of California - Los Angeles

Understanding the genetic diversity within and between populations has important implications for studies of human disease and evolution. This includes identifying associations between genetic variants and disease, detecting genomic regions that have undergone positive selection and highlighting interesting aspects of human population history.

Now, a team of researchers from the UCLA Henry Samueli School of Engineering and Applied Science, UCLA's Department of Ecology and Evolutionary Biology and Israel's Tel Aviv University has developed an innovative approach to the study of genetic diversity called spatial ancestry analysis (SPA), which allows for the modeling of genetic variation in two- or three-dimensional space.

Their study is published online this week in the journal Nature Genetics.

With SPA, researchers can model the spatial distribution of each genetic variant by assigning a genetic variant's frequency as a continuous function in geographic space. By doing this, they show that the explicit modeling of the genetic variant frequency the proportion of individuals who carry a specific variant allows individuals to be localized on a world map on the basis of their genetic information alone.

"If we know from where each individual in our study originated, what we observe is that some variation is more common in one part of the world and less common in another part of the world," said Eleazar Eskin, an associate professor of computer science at UCLA Engineering. "How common these variants are in a specific location changes gradually as the location changes.

"In this study, we think of the frequency of variation as being defined by a specific location. This gives us a different way to think about populations, which are usually thought of as being discrete. Instead, we think about the variant frequencies changing in different locations. If you think about a person's ancestry, it is no longer about being from a specific population but instead, each person's ancestry is defined by the location they're from. Now ancestry is a continuum."

The team reports the development of a simple probabilistic model for the spatial structure of genetic variation, with which they model how the frequency of each genetic variant changes as a function of the location of the individual in geographic space (where the gene frequency is actually a function of the x and y coordinates of an individual on a map).

"If the location of an individual is unknown, our model can actually infer geographic origins for each individual using only their genetic data with surprising accuracy," said Wen-Yun Yang, a UCLA computer science graduate student.

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Researchers develop new genetic method to pinpoint individuals' geographic origin