Whether or not you smoke can be influenced by heredity; new research may help identify specific risks, and ways to quit

Photo illustration by Gerd Altmann, Pixabay, via Newswise

Kentucky Health News

If your parents or grandparents smoke, you are more likely to smoke. Perhaps that's one reason smoking persists in Kentucky, which has had a higher rate of adult smoking than any state but West Virginia. 

“Smoking is highly heritable, with genetic differences accounting for 40% to 75% of the differences in people’s smoking behaviors,” says Pamela Romero Villela, a doctoral student at the University of Colorado and main author of a new study of the phenomenon.

The university's Lisa Marshall writes, "Scientists have identified thousands of genetic variants believed to influence everything from when people first try smoking to how good that first cigarette feels to how often they light up and how hard it is to quit. Some variants influence how quickly we metabolize nicotine, while others underlie how sensitive we are to it. But little is known about how they interact with each other and with other genetic differences."

The new study "sheds unprecedented light on these interactions and provides new insight on the most well-known smoking-related variant to date," Marshall reports.

Romero Villela told Marshall, “The more we can understand what those genes do and how they interact, the better equipped we will be to develop personalized approaches to helping people quit.”

She and physiology Professor Marissa Ehringer, a longtime substance-use researcher, focused on the most widely replicated genetic variant associated with smoking behaviors, so important that researchers call it "Mr. Big."

"Mr. Big . . . influences how well nicotine binds to receptors in the brain," Marshall explains. "People with a certain version of Mr. Big, known as the AA version, are less sensitive to nicotine and have been shown to smoke more."

Romero Villela rold her, “It kind of numbs your response so in order for you to feel the same effect as someone who smoked one cigarette you might have to smoke almost one and a half cigarettes.”

The researchers found something new "when analyzing genetic information from about 165,000 current or former smokers of European, South Asian and Finnish descent," Marshall reports. "They discovered genes and variants in a completely different region of the genome that appear to interact with Mr. Big in a way that influences smoking habits. Notably, when people had the risk-boosting version of Mr. Big but also had a genetic variant called rs73586411, they smoked significantly less than expected."

Marshall writes, "More research is needed to understand just what the genes highlighted in the study do. Interestingly, one . . . has previously been associated with Parkinson’s disease. Nicotine is known to blunt some symptoms of the disease.

"The study authors imagine a day when people could be given a 'polygenic risk score' that would consider their gene variants and interactions to provide personalized recommendations for quitting. . . . Eventually, if researchers could determine what a variant does to dull the craving to smoke, they might be able to develop medications that mimic that action."

Bill to require insurers to cover biomarker testing goes to Beshear

UPDATE, March 23: Gov. Andy Beshear has signed the bill into law.

MD Anderson Cancer Center graphic

By Melissa Patrick
Kentucky Health News

A bill to require private and public insurance plans in Kentucky to cover biomarker testing for cancer and screenings for genetic-based reactions to drugs has finally passed and is on its way to Gov. Andy Beshear. 

House Bill 180, sponsored by Rep. Kim Moser, R-Taylor Mill, will require all private insurance plans, Medicaid and the state-employee health plan to cover the biomarker and pharmacogenetic tests when they are medically necessary.

Pharmacogenetic testing determines how a patient will respond to medication. Biomarker testing “is a way to look for genes, proteins, and other substances (called biomarkers or tumor markers) that can provide information about cancer. Each person’s cancer has a unique pattern of biomarkers,” says the National Cancer Institute.

Senate President Robert Stivers, R-Manchester, who carried the bill in the Senate, said he took it off the consent calendar, used to pass groups of non-controversial bills without a roll call, so senators and the public could become more aware of the bill's contents.

Stivers explained that biomarker testing allows for the targeted treatments of cancers, instead of a one-size-fits-all treatment for everyone. This "gives that individual a higher likelihood of being successful," he said. "As we become more technologically advanced, this is the direction that we hope medicine goes." 

Stivers said that while this bill is an insurance mandate, something the legislature traditionally resists, its financial analysis shows that it will have a minimal cost. The Kentucky Department of Insurance said it did not expect the bill to materially increase premium or administrative costs for fully insured health plans. Tt did not analyze the impact on Medicaid or the state-employee health plan. 

Sen. Danny Carroll, R-Benton, told the Senate members that he, his wife and his daughter, who has cerebral palsy, had recently undergone genetic testing to determine if his daughter would be a good candidate for a specific type of surgery, and learned that she was.

Carroll, who is president and CEO of Easterseals West Kentucky, also said pharmacogenetic testing is especially important for people with intellectual disabilities because it helps to determine which medicines work best for them: "This could very well change their life and the quality of life that they're able to live."

The American Cancer Society Cancer Action Network applauded the passage of the bill, noting that private health insurance and Medicaid coverage of biomarker testing have not kept pace with the rate of innovation.

“Dubbed ‘the right treatment at the right time,’ precision medicine has played a critical role in improving cancer outcomes,” Doug Hogan, government relations director for ACS, said in a news release. “Over 30,000 Kentuckians will be diagnosed with cancer this year. Ensuring patients who could benefit have access to insurance-covered biomarker testing to help identify the most appropriate treatment gives them a better quality of life and the best chance of survival.”

HB 180 passed the House 97-0 Feb. 22 and the Senate 34-0-1 March 13. Sen. Adrienne Southworth, R-Lawrenceburg, cast a "pass" vote.

Bill near final passage would delay lab results of cancer or genetic markers from going on electronic health records for 72 hours

UPDATE: March 30, The House concurred with the Senate, giving the bill final passage. 
UPDATE: March 29, The Senate passed HB 529 with a committee substitute 36-0. 

By Melissa Patrick
Kentucky Health News

The legislature is nearing final passage of a bill that would give health-care providers a chance to contact patients to go over certain laboratory results before they go on patients' electronic health records.

Rep. Killian Timoney

House Bill 529, sponsored by Killian Timoney, R-Lexington, would require pathology or radiology reports that may show a finding of malignancy, or test results that could reveal genetic markers, to not be disclosed to a patient as part of their electronic health record for 72 hours, unless the health-care provider directs their early release. 

The Senate Health and Welfare Committee approved the bill without dissent and put it on the chamber's consent calendar, which it uses to pass bills without further discussion.

Doctors told the committee that the bill is needed.

"As physicians, we are quite concerned that patients are receiving deadly, life-threatening diagnoses on their phones without any medical care and medical support. We have numerous accounts of patients being harmed because of that, and causing harm to themselves," said Dr. David Danhauer, chief medical information officer at Owensboro Health. "We ask that, with this bill, allow our providers time to review, contemplate a plan, and set up appropriate consultation with those patients."

Dr. Susanne Arnold, a medical oncologist and associate director of the University of Kentucky's Markey Cancer Center, told the committee that they believe 72 hours "is an appropriate length of time" in most situations to be able to have a face-to-face discussion with a patient about such serious diagnoses. 

Sen. Karen Berg, D-Louisville, a physician, praised the bill. "This can be a horrible, horrible situation for patients," she said. "Imagine, honestly, opening up your telephone and seeing the report that says advanced metastatic cancer and it's 5:30 on a Friday night and you don't even have anyone to call. That's unethical."

While presenting the bill March 9 in the House floor, where it passed 84-14, Timoney said it would apply to upwards of 4 percent of all tests, and give patients access to a trained professional instead of "Dr. Google" or WebMD. He referred to the bill as the Compassionate Patient Care Act. 

The bill has an emergency clause that would make it effective immediately upon enactment.

UK researchers track genetic trail of ALS, one version of which is more common around Cumberland Gap than anywhere else

Debby Taylor and Dr. Edward Kasarskis talk at the headquarters
of Cumberland Gap National Historical Park. (Alex Stilz photo)

Two University of Kentucky researchers are on the genetic trail of amyotrophic lateral sclerosis, better known as ALS or Lou Gehrig's disease. Their detective story has not reached its end, but it is told in fascinating fashion by Eric Boodman of Stat, the medicine-and-science publication of The Boston Globe.

The story is based around the Cumberland Gap, where Kentucky meets Tennessee and Virginia. "This corner of Appalachia runs thicker with a particular form of inherited ALS than almost anywhere else," Boodman reports, and its chief tracker is Dr. Edward Kasarskis, the neurologist who discovered the cluster, beginning with one family in 1993. A family member on her deathbed told him of a relative who knew "the whole family history," Kasarskis told Boodman, but she "just refused to talk to me."

"He tried to piece it together himself, making calls, jotting names and dates on bits of paper," Boodman writes. "Families were tight-lipped, though, and he didn’t have much luck. He turned to other things." But a decade later, he mentioned his quest to UK research coordinator Debby Taylor, who had been "mapping her own family history on Ancestry.com, and she offered to try with software what hadn’t worked by hand. Within a day, she had 12 pages of names." How, it has "grown into a 250-page digital family tree, with around 6,700 names, eight generations, two intertwined families, and a lot of ALS."

Now, "Taylor and Dr. K know that among the 5,000 annual diagnoses of ALS in the U.S., only around 10 percent are inherited. They know there are over 30 different major genes in which a mistake might be causing the disease. They know that the mutation they’re studying is among the rarer ones, affecting a gene called FUS. What they still don’t know is why certain family members with the mutation get the disease, and others don’t." Kasarskis cited a man who lived into his 90s, had then gene, and never developed the disease -- but three of his children did, and two others got the gene from him.

Though they have a roadmap, the research is slow. They "can’t just look up an address and show up at someone’s door. “Until they develop an illness and come to medical attention, they’re just a name on a chart, on a pedigree,” Kasarskis said. “We can’t legally go doing cold calls: ‘Hey, George, how’s it going? By the way, have you developed your ALS yet?’” So they must "wait for patients to come to them," Boodman reports. "They don’t ask about participating in research right away; there is no cure for ALS, and the diagnosis can be devastating. . . . Some people don’t trust Taylor and Dr. K. Others don’t see how this research could possibly help them. Yet others simply refuse to accept the diagnosis."

Taylor told Boodman, “If you tell your fiancé that there’s ALS in your family, do you think he or she is really going to marry you? So this is not anything that people want to talk about.” But enough of them talked to Boodman to make a great story. Read it here.

Genetic testing is an option if you have a family history of breast cancer; regardless, if over 40 get an annual mammogram

October is Breast Cancer Awareness month, making it a good time to consider talking to your primary-care provider about genetic testing if you have a family history of breast cancer.

“Genetic testing is not recommended for all women, but can be helpful for those with a family history of breast cancer to determine if they are at risk,” said Dr. Mridula Vinjamuri of KentuckyOne Health in a news release. “There is only a small chance that your family carries gene mutations that cause breast cancer. However, gene mutations account for about five to 10 percent of all breast cancers, so it is beneficial for women with a family history to be tested for these genes.”

Genetic testing helps determine if you carry certain genes that are known to cause breast cancer, such as BRCA1, BRCA2 and PALB2. Testing involves your physicians sending either a blood or saliva sample to the lab.

KentuckyOne Health notes that about 12 percent of women get breast cancer, but about 55 to 60 percent of women with the BRCA1 gene mutation will get breast cancer by age 70 and an estimated 45 percent of those with the BRCA2 gene mutation will by age 70. Breastcancer.org says that those with the PALB2 gene mutation have a 14 percent risk of developing breast cancer by age 50 and a 35 percent increased chance by age 70.

These gene mutations are inherited from a person’s mother or father. The release recommends that the first family member who has breast cancer get the gene test first, because if they don't have the gene mutations, then other family members won't either. Men with these mutations also have an increased risk of breast cancer.

KentuckyHealth One also notes the importance of seeing a genetic counselor before having any genetic testing to discuss the potential risks, limitations and benefits of the testing.

While there is no medical risks associated with genetic testing other than the slight risks associated with having your blood drawn, there are some psychological risks. The release notes that some who are tested become anxious, angry, sad or depressed because of the uncertainty related to finding out they carry the abnormal genes; others feel a sense of inevitability, though this may not be the case; and others struggle over what they should do next.

“Being aware of how to reduce your risk for a breast cancer diagnosis is very important," said Dr. Mounika Mandadi of Louisville's James Graham Brown Cancer Center, which provides breast cancer genetic counseling and testing. “Our goal at the clinic is to raise awareness of breast cancer, decrease risk of diagnosis, and provide chemoprevention.”

The release added that as you weigh the risks and rewards of testing to remember: "All women older than 40 should receive an annual mammogram, regardless of genetic testing results, as aging women are at risk for developing breast cancer." And remember, men can also get breast cancer.

Researchers find genetic biomarker that could indicate mental illness in women

Patients' behaviors and feelings often serve as identifying factors for psychiatric disorders, which can make diagnoses difficult. Researchers at the University of California San Diego School of Medicine have discovered that the over-production of specific genes may indicate mental illness in female psychiatric patients, according to a study published in the journal EBioMedicine.

The gene XIST, which deactivates one of the two X chromosomes in cells responsible for storing genetic material, works too hard in female patients who have mental illnesses such as bipolar disorder, major depression and schizophrenia. According to the study, over-production of XIST and genes from the inactive X chromosome are common factors in patients with psychiatric disorders and rare chromosome disorders like Klinefelter syndrome and Triple X syndrome.

"There has been an utmost urgency to identify biomarkers for mental illness that could significantly impact research and drug development, said XianJin Zhou, assistant professor in the UCSD Department of Psychiatry and lead author of the study.

About half of the participants—most of whom had a family history of mental illness—had unusually higher levels of XIST and other genes related to the X chromosome. Zhou and his team said stopping the abnormal activity of the inactive X chromosome may be a new strategy for treating those with psychiatric disorders. "These results are powerful in that early diagnosis of mental illness could possibly happen with a simple blood test, leading to better interventions, therapy and treatment options," Zhou said.

Experimental drug being used to treat Ebola is being manufactured using special tobacco plants in Owensboro

A unique type of tobacco grown in Owensboro is used to manufacture the ZMapp compound that was given to two Americans who then survived Ebola. The company that produced it, Kentucky BioProcessing, has since gone into "full-scale production of the drug," Janet Patton reports for the Lexington Herald-Leader.

"All of our focus is solely on ZMapp production. We're hoping our efforts can help expedite the drug approval process," David Howard, spokesman for Reynolds American, the tobacco company that owns the facility that makes pharmaceuticals from tobacco, told Patton. The genetic makeup of tobacco makes it an easy vehicle for genetic engineering.

The drug has been sent to government agencies for testing, but it hasn't been used on any more patients since the two Americans, Dr. Kent Brantly and Nancy Writebol, who have since recovered, were given the drug, Patton writes. She also noted that "it's uncertain whether the ZMapp helped cure Brantly or Writebol," but the drug has shown "promising results in testing in primates and mice, curing most of them even after they showed signs of infection."

ZMapp is "a cocktail of antibodies that has been proven to be the most effective treatment so far in fighting off the Ebola virus," Patton writes in a separate article. It was developed while working under contract for the U.S. Department of Defense and other federal agencies to be a "post-exposure treatment for Ebola virus."

The process involves growing a unique tobacco plant and "infecting" the plant with a protein that will "battle the Ebola." The protein then reproduces inside the tobacco plant "like a photocopier." And when ready, the desired proteins are extracted from the plants and put into a serum, Patton reports.

According to the website of Mapp Biopharmaceutical, a company that collaborates with Kentucky BioProcessing, the supply of ZMapp was used up in August, Patton reports.

In September, the federal government announced that it had given Mapp an 18-month contract for as much as $42.3 million for "the development and manufacturing of the medication ZMapp toward the goal of U.S. Food and Drug Administration approval," Patton reports.

Mapp says it is is conducting studies that will help determine the safety and efficacy of the drug while improving its manufacturing process, increasing yields and scale.

"The Department of Health and Human Services is also in advanced discussions to enlist Caliber Biotherapeutics, a Texas company that can produce the drug in millions of tobacco plants," according to federal officials and pharmaceutical industry executives, Andrew Pollack reports for The New York Times.

He reports that federal officials along with two of the world's biggest charities are also looking at arranging for production of ZMapp in animal cells, a more conventional method that takes longer, but allows for for greater output.

But even if these new contracts are negotiated, Pollack reports that there will only be "hundreds or thousands of treatment courses by early next year, which would not be nearly enough if the epidemic continues to spiral out of control."

Fragile X Syndrome, a little known disorder, is the leading inherited cause of intellectual disabilities; U of L has only clinic for it in Ky.

A common but little-known genetic disorder called Fragile X Syndrome is the leading inherited cause of intellectual disability, autism and developmental delay, and the University of Louisville is home to the only Fragile X clinic in Kentucky, the university said in a press release.

Varying levels of disability are associated with the syndrome, depending on whether the FMR1 gene associated with the condition is fully mutated or merely changed but not fully mutated, according to the release.

The federal Centers for Disease Control and Prevention explains that the FMR1 gene is responsible for making a protein that is needed for normal brain development. Those with the syndrome don't make this protein, and those with altered genes don't make enough of it.

Infants born with the fully mutated gene may have intellectual disability, autism and/or delays in development, speech and language. Those with altered genes are more likely to have milder problems in childhood, such as a learning disability or issues with anxiety and social difficulty, which can occur both in childhood and adulthood, says the release. They can also develop infertility and neurological problems such as tremors, imbalance and dementia. Some carriers of the altered genes have no symptoms.

Fragile X Syndrome affects one in approximately 4,000 men and 6,000 women, according to the release. Carriers of the altered gene, who pass it along to later generations, are much more common, with approximately one in 250 women and 800 men.

The Weisskopf Child Evaluation Center at U of L is home to one of 27 clinics affiliated with the National Fragile X Foundation.

John and Shannon Casasfranco had their 2-year-old son John, who had been diagnosed with autism, genetically tested at the center on their doctor's recommendation. They learned that he had Fragile X, and that they were both carriers of the altered gene.

They encourage families to speak to their doctor about genetic testing if they are concerned about children not meeting milestones or suspect that Fragile X is an issue in their family. “If we hadn’t have gotten John tested, we wouldn’t know anything. There is no blood test for autism but there is for Fragile X. Now we know there’s a biological reason for his disability. It’s a hard thing to swallow but you’ve got to plan,” Shannon said.

“Because of our affiliation with the Fragile X Clinical & Research Consortium, we can provide care to patients and families like the Casasfrancos that is based on the most up-to-date knowledge and recommendations of clinicians across the United States who have expertise in Fragile X,” Lisa Craft, ;medical director of the WCEC Fragile X clinic, said.

According to Craft, Fragile X genetic testing should be considered for:

• A child with autism or developmental delays
• Adults with autism or developmental disabilities with no known cause
• Adults with a tremor or balance problem, even if no family members have been diagnosed with Fragile X.
• Women with fertility problems, even if no family members have been diagnosed with Fragile X.

“With knowledge comes power. Knowing that a child or adult has Fragile X provides the family with a ‘road map’ to help them understand the individual’s needs, challenges and strengths,” Craft said. “A diagnosis helps families find the most appropriate services and connect to other families and professionals who can help them on their journey across the lifespan.”

July 22 is National Fragile X Day.

People with a genetic risk of obesity should avoid saturated fat, national study of 2,800 people suggests

A new study shows that avoiding saturated fat may be advantageous for those whose genetic makeup predisposes them to obesity. Researchers from the Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University used 63 gene variants associated with obesity to determine a genetic risk score for obesity for more than 2,800 white, American adults participating in two studies about heart disease prevention.

"People with a higher genetic risk score, who also consumed more of their calories as saturated fat, were more likely to have a higher body mass index, the ratio of body weight to height," Newswise reports.

"We already know there are certain genes that interact with dietary fat and affect BMI," said senior author Jose M. Ordovas, Ph.D., director of the Nutrition and Genomics Laboratory at the USDA center and a professor at the Friedman School of Nutrition Science and Policy at Tufts. We "saw that while total fat intake was related to higher BMI, people who were genetically predisposed to obesity and ate the most saturated fat had the highest BMIs."

The study is published in the Journal of the Academy of Nutrition and Dietetics. The findings also take into consideration factors like age, sex and physical activity levels. Ordovas and the other researchers believe that those who have genetic makeups predisposing them to obesity might be more easily affected by saturated fat, which is often found in fatty cuts of meats, butter, cheese and other high-fat dairy products.

Ordovas said that although they cannot yet explain with confidence the "role of saturated fat intake in obesity . . . Some clinical models suggest that saturated fat might interfere with activity in the part of the brain that lets us know we're full, in addition to a few studies in people that suggest a diet high in saturated fat interferes with satiety." Ordovas also said that if additional research could explain the connection between obesity-related genes and saturated fat, people would have even more convincing reasons to eat less saturated fat. (Read more)

Lifestyle changes and screening will decrease risk of cancer, which is especially deadly in Kentucky

This Kentucky Cancer Consortium graph shows the
deaths from cancers with evidence-based prevention
or early detection methods in Kentucky in 2005-09.

By Melissa Patrick
Kentucky Health News

Kentucky has the nation's highest rates of newly diagnosed cancers and death rate for all cancers combined, but Kentuckians could easily reduce those rates through proper screening and lifestyle changes, says a report from the Kentucky Cancer Consortium. Kentucky has a high death rate from lung, colon and cervical cancer, and leads in lung cancer deaths, with a rate almost 50 percent higher than the national rate.

The Nos. 1, 2 and 3 causes of cancer deaths in Kentucky, are lung, colon and breast cancer, and all three can be easily prevented or detected, according to the report.

Many risks associated with cancer are outside a person's control, but lifestyle changes and screening tools have been proven to reduce cancer risk and to catch cancer early, said Mark Varvares, M.D., director of the Saint Louis University Cancer Center.

“Healthy choices and preventive screenings won’t totally erase cancer, but they can reduce our risk in a really meaningful way," Varvares said in a news release. "They offer us the chance to change the course of the future, if we take advantage of them.”

According to the American Cancer Society, “More than half of all cancer deaths could be prevented by making healthy choices like not smoking, staying at a healthy weight, eating right, keeping active, and getting recommended screening tests.”

Specific suggestions made by the Saint Louis University Medical Center to reduce the risk of cancer are:

#1: Quit smoking. Smoking causes most lung cancer deaths in the U.S.

#2: Eat a healthy diet. Obesity is a risk factor for many cancers, including those of the esophagus, pancreas, colon, and breast. A healthy diet includes foods like fruits, vegetables and whole grains, which  also linked reduce cancer risk. Limiting red meats and processed meats can lower your risk of colorectal cancer. Many specific foods, like leafy green vegetables or blueberries, have been shown to have specific anti-cancer properties.

 #3: Exercise. Studies show exercise lowers risk of colon and breast cancer. There also appear to be links between exercise and reduced prostate, lung and endometrial cancer risks.

 #4 Limit alcohol. Excessive alcohol is bad for your health, and can raise the risk of certain types of cancer. For women, even a few drinks a week may increase breast cancer risk. The overuse of mouthwash, which contains alcohol, been linked to mouth cancer, Varvares said in the report. The recommended maximum amount of alcohol is two 4-ounce drinks per day for men and one for women.

#5: Wear sunscreen and avoid tanning beds altogether. Sunscreen, which blocks dangerous rays from the sun, is your best bet to avoid skin cancer.  Tanning-bed users have a high incidence of skin cancer.

#6: Get screened. Colonoscopy, pap smears and mammography can be life-saving tools.

 #7 Get vaccinated. The human papilloma virus (HPV) vaccine lowers cervical-cancer rates in women, and is now being recommended for boys as well as girls partly because it shows promise in preventing head and neck cancer, too.

 #8: Consider genetic counseling. This is a possible option for those with a family history of certain cancers, but should be a decision made with your doctor and with careful consideration of what you will do with the results.   In deciding whether or not to have the screening, Suzanne Mahon, genetic counselor at Saint Lois University Cancer Center says, "Patients should ask ‘Is this something I really want to know about myself. If I know I am at high genetic risk of developing cancer, am I going to do something with this information?’"

Breast cancer awareness: Testing urged, guidelines explained, misconceptions explored

Women with BRCA1 and BRCA2, the
genes most commonly involved in breast
cancer, have up to an 80 percent chance
of getting the disease.

October is Breast Cancer Awareness Month. Although Kentucky's breast cancer rate is slightly lower than the nationwide rate, almost 600 women die every year from breast cancer in the Commonwealth. The American Cancer Society predicts approximately 3,160 new cases of breast cancer will be diagnosed in Kentucky this year. Early detection and prompt treatment can significantly reduce suffering and death from the disease.

According to the Cabinet for Health and Family Services, all health plans serving Kentuckians must, by law, cover mammograms. Medical guidelines strongly recommend that women older than 40 have annual mammograms and women younger than 40 with a family history of breast cancer should also have regular screenings. Through local health departments, the Kentucky Women's Cancer Screening Program provides breast cancer screenings, mammograms and Pap tests to eligible women in every county. During the 2011 fiscal year, KWCSP provided breast cancer screenings to 14,212 women. Services are provided to low-income women through the Kentucky Department for Public Health. Those women must be uninsured with incomes less than 250 percent of federal poverty guidelines.  For more information about breast cancer or screening services, call your local health department.

There are many misconceptions about the risks of developing breast cancer. Genetics, of course, is a well-documented factor but lifestyle issues have gotten a lot of talk. So what's true? Wendy Chen, MD, MPH, a breast cancer expert at Dana-Farber Cancer Institute in Boston, a principal teaching affiliate of Harvard University, tackles some of the more common questions here:

1) Soy may increase the risk of breast cancer returning.
False. Chen, who was part of a study that looked at over 9,500 American and Chinese breast cancer survivors who ate soy every day, says that eating soy may be linked to a lower risk of recurrence of breast cancer.

2) Alcohol consumption can increase the risk of breast cancer.
True. Dana-Farber researchers found that women who consume one alcoholic drink a day may increase their risk for breast cancer.  Chen and her colleagues analyzed data from over 105,000 women in the Nurses’ Health Study. Those who consumed three to six glasses of wine a week were 15 percent more likely to receive a diagnosis of breast cancer. Those who drank fewer than three drinks a week had no increased risk.

3) Fertility treatments increase a woman’s risk of breast cancer.
False. According to a recent study from the National Institutes of Health, ovulation-inducing fertility treatments like Clomid and follicle stimulating hormone (FSH) do not significantly increase a woman's risk of developing breast cancer.

4) Wearing deodorant can increase the risk of breast cancer.
False. According to the National Cancer Institute, there is no conclusive research linking underarm deodorants to breast cancer.

5) The bigger the baby the bigger the risk of getting breast cancer.
Possibly true. “This is a tough one because the research is still evolving,” says Chen. "But the latest research shows that women who have larger babies have more than twice the risk of developing breast cancer than mothers who give birth to smaller infants. Researchers say that having a heavier baby may create a hormonal environment in pregnancy that could lead to the future development of breast cancer. They found that during pregnancy in women who have heavier babies, the ratio of estrogen to anti-estrogen is unusually high. The greater the level of estrogen, the higher the risk of breast cancer. However, Chen emphasizes, women who have larger babies should not panic. There is definitely a need for further research.” (Read more)

UK researcher part of team that has identified Usher Syndrome gene, responsible for genetic loss of sight and hearing in babies

A University of Kentucky physiologist has teamed with researchers from several institutions to report a novel type of gene associated with Usher Syndrome, a hereditary disease that causes individuals to lose both hearing and sight. The work of Gregory Frolenkov, associate professor at the University of Kentucky College of Medicine, and others led by Zubair M. Ahmed from the University of Cincinnati and Cincinnati Children's Hospital Medical Center, is being published in the November 2012 issue of Nature Genetics.

 In the United States, approximately six of every 100,000 babies have Usher Syndrome. About 3 to 6 percent of all children who are deaf and another 3 to 6 percent of children who are hard of hearing have Usher Syndrome. According to the National Institute on Deafness and Other Communication Disorders, parents who have normal hearing and vision usually do not know if they are carriers of an Usher gene mutation. It is not yet possible to determine whether a person who does not have a family history of Usher syndrome is a carrier. Several genes associated with different types of Usher Syndrome have been identified.

Hospitals can learn from revealing account of the attack of a superbug; sequencing germ's DNA seems to be key

Dr. Tara Palmore, deputy hospital epidemiologist at the
National Institutes of Health Clinic Center, left, and Dr.
Julie Segre, a geneticist with the National Human
Genome Research Institute. Both were integral in
pinpointing the spread of a superbug at NIH.
Associated Press photo by Patrick Semansky.

A candid account of how a superbug was contained at one of the nation's leading research hospitals indicates that fast sequencing of a germ’s full DNA can make all the difference.

Over a six-month period, Klebsiella pneumonia, or KPC, a germ that cannot be treated by most antibiotics, sickened 18 people at the National Institutes of Health. Six of them died and another five, though they survived the effects of the germ, died from the disease that originally brought them to the facility.

Infections at health-care facilities kill about 100,000 Americans each year. But, fearful of lawsuits, hospitals generally don’t reveal to the public when infections outfox control measures, reports Lauran Neergaard for The Associated Press. That changed this week when government researchers published the story of what happened at NIH.

Dr. Julie Segre, a senior investigator at NIH’s National Human Genome Research Institute, was in charge of the “genetic sleuthing that found the bug hiding in sink drains and, most chilling, even in a ventilator that had been cleaned with bleach,” Neergaard reports. A multidrug-resistant strain of Klepsiella bacteria has emerged that spreads easily between patients who are very ill, and it kills half of whomever it sickens.

On June 13, 2011, a research nurse checked the medical records of a study participant who was being transferred from a New York City hospital and was critically ill with a rare lung disease. She found the patient had KPC, prompting the hospital to put her in strict isolation. “Everyone entering her room donned a protective gown and gloves and rigorously washed their hands,” Neergaard reports. “Her medical equipment got special decontamination. All other patients in the intensive care unit had their throats and groins tested regularly to see if the bug was spreading.” All seemed to be clear and the woman was sent home two days later.

But three weeks later, a patient with cancer was found to have KPC, though he was never in the presence of the first patient. Ten days later, a woman with an immune disease also got sick with KPC. Both died from the infection.

Researchers wondered if the cases were related or if the patients were arriving already infected with KPC. Segre turned to DNA for answers. "As bacteria multiply, mistakes appear and are repaired in their genetic codes," Neergaard reports. "Sequencing that genome allowed Segre to follow differences in single genetic letters like a trail of the germ’s transmission and evolution." Using this method, Segre discovered the KPC appearing at NIH was the same strain that came from the New York patient. "Testing bacteria from the 17 additional patients who ultimately caught it shows the KPC was transmitted three separate times from Patient No. 1 and then spread more widely," Neergaard reports.

NIH completely overhauled its decontamination practices, but the bacteria continued to spread. By November, the bacteria appeared in two patients who were not even in intensive care. Finally, the hospital built a new isolation room and all 200-plus patients in the hospital were subject to rectal testing.

The contamination is now contained, but the account of it is giving pause to infection-control specialists around the country. “Absolutely this could happen in any hospital,” said Dr. Deverick Anderson, co-director of a Duke University infection control network. (Read more)

Two gene variants identified as risk factors for childhood obesity

The largest ever genome-wide study has identified two new gene variants that increase the risk of common childhood obesity.

"We have definitively identified and characterized a genetic predisposition to common childhood obesity," said lead investigator Struan F.A. Grant, associate director of the Center for Applied Genomics at The Children's Hospital of Philadelphia.

The analysis included 14 previous studies "encompassing 5,530 cases of childhood obesity and 8,300 control subjects, all of European ancestry," reports research-reporting service Newswise.

The study team identified two novel loci, or specific locations of a gene or DNA sequence on a chromosome. One is near the OLFM4 gene on Chromosome 13, the other in the HOXB5 gene on Chromosome 17. There was a degree of evidence for two other gene variants as well. "The known biology of three of the genes hints at a role of the intestine, although their precise functional role in obesity if currently unknown," Newswise reports. (Read more)