SUNDAY, June 4, 2017 (HealthDay News) -- A twice-daily pill could help some advanced breast cancer patients avoid or delay follow-up sessions of chemotherapy, a new clinical trial reports.

The drug olaparib (Lynparza) reduced the chances of cancer progression by about 42 percent in women with breast cancer linked to BRCA1 and BRCA2 gene mutations, according to the study.

Olaparib delayed cancer progression by about three months. The drug also caused tumors to shrink in three out of five patients who received the medication, the researchers reported.

"Clearly the drug was more effective than traditional chemotherapy," said Dr. Len Lichtenfeld, deputy chief medical officer for the American Cancer Society.

"This is a group where a response is more difficult to obtain -- a young group with a more aggressive form of cancer -- and nonetheless we saw a close to 60 percent objective response rate," he said.

The study was funded by AstraZeneca, the maker of Lynparza.

Olaparib works by cutting off the avenues that malignant cancer cells use to stay alive, said lead researcher Dr. Mark Robson. He's a medical oncologist and clinic director of Clinical Genetics Service at Memorial Sloan Kettering Cancer Center in New York City.

The drug inhibits PARP, an enzyme that helps cells repair damaged DNA, Robson said.

Normal cells denied access to PARP will turn to the BRCA genes for help, since they also support the repair of damaged DNA, Robson said.

But that "backup capability" is not available to breast cancer cells in women with BRCA gene mutations, Robson said.

"When you inhibit PARP, the cell can't rescue itself," Robson said. "In theory, you should have a very targeted approach, one specifically directed at the cancers in people who have this particular inherited predisposition."

Olaparib already has been approved by the U.S. Food and Drug Administration for use in women with BRCA-related ovarian cancer. Robson and his colleagues figured that it also should be helpful in treating women with breast cancer linked to this genetic mutation.

The study included 302 patients who had breast cancer that had spread to other areas of their body (metastatic breast cancer). All of the women had an inherited BRCA mutation.

They were randomly assigned to either take olaparib twice a day or receive standard chemotherapy. All of the patients had received as many as two prior rounds of chemotherapy for their breast cancer. Women who had hormone receptor-positive cancer also had been given hormone therapy.

After 14 months of treatment, on average, people taking olaparib had a 42 percent lower risk of having their cancer progress compared with those who received another round of chemotherapy, Robson said.

The average time of cancer progression was about seven months with olaparib compared with 4.2 months with chemotherapy.

Tumors also shrank in about 60 percent of patients given olaparib. That compared with a 29 percent reduction for those on chemotherapy, the researchers said.

Severe side effects also were less common with olaparib. The drug's side effects bothered 37 percent of patients compared with half of those on chemo. The drug's most common side effects were nausea and anemia.

"There were fewer patients who discontinued treatment because of toxicity compared to those who received chemotherapy," Robson said. "Generally it was pretty well tolerated."

Only about 3 percent of breast cancers occur in people with BRCA1 and BRCA2 mutations, the researchers said in background notes.

Despite this, the results are "quite exciting," said Dr. Julie Fasano, an assistant professor of hematology and medical oncology at the Icahn School of Medicine at Mount Sinai in New York City.

Olaparib could wind up being used early in the treatment of metastatic breast cancer as an alternative to chemotherapy, and future studies might find that the drug is effective against other forms of breast cancer, Fasano said.

"It may be a practice-changing study, in terms of being able to postpone IV chemotherapy and its associated side effects" like hair loss and low white blood cell counts, Fasano said.

Lichtenfeld noted that olaparib also places less burden on patients.

"It may be easier for women to take two pills a day rather than go in for regular chemotherapy," Lichtenfeld said. "Clearly, this is a treatment that will garner considerable interest.

The findings were scheduled to be presented Sunday at the American Society of Clinical Oncology's annual meeting, in Chicago. The study was also published June 4 in the New England Journal of Medicine.

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Drug Helps Fight Breast Tumors Tied to 'Cancer Genes' - The Tand D.com

Pacific Standard

The Future of Medicine Depends on Protections for Pre-Existing Conditions Pacific Standard Biomedical researchers can see a future where genetic tests are used to treat and prevent many diseases before major symptoms even present themselves. But that future won't be possible without strong insurance protections for pre-existing conditions.

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The Future of Medicine Depends on Protections for Pre-Existing Conditions - Pacific Standard

Genetic testing company 23AndMe is back with a controversial new offering, after the U.S. Food and Drug Administration on Thursday green-lighted the companys request to market a fresh batch of direct-to-consumer tests. Soon, with a simple saliva swab dropped in the mail, customers will be able to get answers about their genetic risk for developing 10 maladiesincluding Parkinsons disease and late-onset Alzheimers.

The FDA approval will likely reignite a long-simmering debate about when and how such tests should be used. Even when there are strong links between certain gene variants and medical conditions, genetic information often remains difficult to interpret. It must be balanced against other factors including health status, lifestyle and environmental influences, which could sharpen or weaken risk. If disease risk news is delivered at homewithout a genetic counselor or doctor on hand to offer contextmany geneticists fear it can lead to unnecessary stress, confusion and misunderstandings.

Against that backdrop, the FDAs decision came with caveats: Results obtained from the tests should not be used for diagnosis or to inform treatment decisions, the agency said in a statement. It added that false positive and false negative findings are possible.

But geneticist Michael Watson, executive director of the American College of Medical Genetics and Genomics, thinks consumers will have trouble making such distinctions and says he doubts people will view them as a mere novelty. Watson also worries 23AndMes wares may create other problems: Follow-up testing for some of these conditions may be quite pricey, he says, and insurance companies might not cover that cost if a person has no symptoms. He also notes that some of the conditions involved may have no proved treatments, leaving consumers with major concernsand few options to address them, aside from steps like making some lifestyle changes.

The makeup of 23AndMes reports to consumers is still being finalized, but the company says it does not expect to grade or rank a persons risk of developing any of the 10 conditions approved for analysis. Instead it will simply report a person has a gene variant associated with any of the maladies and is at an increased risk, the company told Scientific American.

The FDA decision may significantly widen the companys market and top off a years-long debate about what sort of genetic information should be available to consumers without professional medical oversight. After the FDAs 2013 decision to stop 23AndMe from sharing data about disease risk with its customers, the company was still able to offer them information about their genetic ancestry. It has also been selling consumer tests for genes that would indicate whether people are carriers for more than 30 heritable conditions, including cystic fibrosis and Tay-Sachs disease.

This month 23AndMe plans to release its first set of genetic health-risk reports for late-onset Alzheimers disease, Parkinsons disease, hereditary thrombophilia (a blood-clotting disorder), alpha 1-antitrypsin deficiency (a condition that raises the risk of lung and liver disease), and a new carrier status report for Gauchers disease (an organ and tissue disorder). Reports for other tests will follow, the company says.

In considering whether to approve the tests, the FDA says it reviewed studies that demonstrated the 23AndMe procedures correctly and consistently identified variants associated with the 10 conditions. Further data from peer-reviewed scientific literature demonstrated the links between these gene variants and conditions, and supported the underlying science.

The FDA also announced on Thursday that it plans to offer the company exemptions for similar genetic tests in the future, without requiring them to be submitted for premarket review. That decision could leave the door open to offering tests for other conditions that have questionable reproducibility, says Jim Evans, a genetics and medicine professor at the University of North Carolina School of Medicine.

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Too Much Information? FDA Clears 23AndMe to Sell Home Genetic Tests for Alzheimer's and Parkinson's - Scientific American

April 3, 2017 The growth of Neisseria meningitidis colonies on New York City Medium Agar. Credit: Wikipedia

Neisseria meningitidis, a bacterium usually associated with meningitis and sepsis, is the cause of a recent cluster of sexually transmitted infections in Columbus, Ohio and in other US cities. The bacterium appears to be adapting to a urogenital environment, an analysis of the organism's DNA shows.

The DNA analysis helps doctors track the spread of this type of bacteria, distinguish it from others, anticipate which vaccines might be protective, and understand how it has evolved.

The findings are scheduled for publication in PNAS.

Genetic changes make this "clade" of N. meningitidis look more like relatives that are known to cause gonorrhea, says lead author Yih-Ling Tzeng, PhD, assistant professor of medicine (infectious diseases) at Emory University School of Medicine.

In particular, the bacteria have lost their outer coat-capsules, potentially enhancing their ability to stick to mucosal surfaces in the body, and have gained enzymes that promote growth in a low-oxygen environment.

Some good news is that the capsule-less organism is less likely to cause invasive diseases such as meningitis, because the capsule protects the bacteria against components of the immune system found in the blood, Tzeng says.

N. meningitidis is carried at the back of the nose and throat, without symptoms, in 5 to 10 percent of people. As its name suggests, when N. meningitidis invades other parts of the body, it can cause meningitis, an infection of the lining of the brain and spinal cord, as well as deadly bloodstream infections.

In 2015, N. meningitidis began to appear in heterosexual men coming to the Sexual Health Clinic in Columbus as the cause of urethritis: inflammation leading to painful urination. These infections were initially presumed to be gonorrhea, caused by N. gonorrhoeae. More than 100 cases have been reported in Columbus, and the same type of N. meningitidis infection has appeared in Michigan, Indiana and Georgia.

Jose Bazan, DO, the Clinic's medical director and assistant professor of medicine (infectious diseases) at Ohio State University and Abby Norris Turner PhD, assistant professor of medicine (infectious diseases) teamed up with Tzeng and David Stephens, MD, professor of medicine of Emory University School of Medicine, and colleagues from Indiana University School of Medicine and the Centers for Disease Control and Prevention (CDC) to investigate.

The Columbus clinic is part of the CDC's nationwide Gonococcal Isolate Surveillance Project (GISP), which monitors antibiotic resistance. Emory co-authors include Carlos del Rio, MD, professor of medicine and global health and director of the Atlanta GISP laboratory, and Timothy Read, PhD, associate professor of medicine and human genetics.

The scientists looked at the genomes of 52 N. meningitidis samples from Columbus, and two from Indianapolis and two from Atlanta. All 56 genomes had many common features, so they're closely related, but they are continuing to evolve.

N. meningitidis is usually classified by serogroups, based on the structure of the capsule. . Vaccines against the A, C, Y, and W serogroups have been available in the US for years, and vaccines against serogroup B were introduced in 2014.

Outbreaks of N. meningitidis serogroup C meningitis and sepsis have been observed in several countries among men who have sex with men. In contrast, the bacteria described in the PNAS paper could not be assigned to any serogroup based on initial screening tests.

The loss of several genes for synthesizing components of the capsule explains the blank result, Tzeng says. However, clues in the DNA of the capsule-less bacteria make them look like they were originally derived from a serogroup C ancestor.

It is possible that vaccines that were approved in the last few years against the B serogroup might still be effective against this meningococcal clade, because the capsule-less bacteria continue to produce other proteins targeted by those vaccines, the scientists found. A vaccine against gonorrhea has been a challenge, because repeat infections are common.

N. meningitidis doesn't usually encounter low-oxygen conditions, but this clade, linked to urethritis, has picked up genes that help them to grow in the environment of the urogenital tract. Based on their sequences, the genes appear to have come directly from N. gonorrhoeae, suggesting that on at least one occasion, the two types of bacteria were in the same place and exchanged DNA.

"All the urethritis patients responded to standard treatments for gonorrhea and there were no alarming resistance markers," Tzeng says. "However, as the gene conversion demonstrates, this clade can readily take up DNA from gonococci and it is not unthinkable that gonococcal antibiotic resistance genes could jump into this clade by gene transfer, if it is to its advantage."

Explore further: Harmless bacteria may be helpful against meningococcal outbreaks

More information: Emergence of a new Neisseria meningitidis clonal complex 11 lineage 11.2 clade as an effective urogenital pathogen, PNAS, http://www.pnas.org/cgi/doi/10.1073/pnas.1620971114

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Meningitis bacteria adapting to STI niche, genetic analysis shows - Medical Xpress

Mitochondrial diseases can be passed from mothers to their children in DNA. JGI/Tom Grill/Getty Images/Blend Images hide caption

Mitochondrial diseases can be passed from mothers to their children in DNA.

Last fall, the New York-based reproductive endocrinologist John Zhang made headlines when he reported the birth of the world's first "three-parent" baby a healthy boy carrying the blended DNA of the birth mother, her husband and an unrelated female donor.

The technique, called mitochondrial replacement therapy, allowed the 36-year-old mother to bypass a defect in her own genome that had led, twice before, to children born with Leigh syndrome, a devastating neurological disorder that typically culminates in death before age 3.

While heralded in many circles as a breakthrough, the news triggered numerous ethical and scientific questions, many of which remained unanswered at the time. Last week, Zhang and his colleagues at the New Hope Fertility Center provided some answers and raised yet more concerns.

John Zhang of the New Hope Fertility Clinic in Manhattan performed the procedure that used DNA from three people to create a baby boy. Courtesy of the New Hope Fertility Clinic hide caption

John Zhang of the New Hope Fertility Clinic in Manhattan performed the procedure that used DNA from three people to create a baby boy.

Their new report, published in the journal Reproductive BioMedicine Online, describes both the technique and the participants in greater detail, something that fellow researchers had demanded in order to properly scrutinize Zhang's methodology.

But in publishing the new material, the journal editors themselves also noted that Zhang's report still contains "weaknesses and limitations in a number of areas," including lingering questions about informed consent, the full risks of mitochondrial replacement therapy and the long-term health of the child.

"Although we were able to encourage the authors to include more details of their work in the submission," journal editor and clinical embryologist Mina Alikani noted in an accompanying editorial co-written with her colleagues, "some uncertainties concerning methodologies and results still remain."

In a statement provided by the New Hope facility, Zhang conceded that more work needs to be done. "There is always concern about any new procedure and innovation implemented on humans," Zhang said. "We agree that there are still a lot of unknowns about this technique and will make every effort to monitor the boy's ongoing progress and test for any adverse outcomes."

A key weakness in Zhang's work, according to critics, is that the procedure is not approved in the United States, which forced the team to undertake the procedure in Mexico. "This particular experiment is being done almost entirely outside the normal regulatory structure," says bioethicist and pediatrician Jeffrey Botkin of the University of Utah, who participated in an Institute of Medicine committee last year that issued a call for more animal research on mitochondrial replacement therapy.

Without proper oversight, Botkin says, vital questions about the technique, as well as the impact of such experiments on resulting embryos, remain difficult to answer.

As it stands, Congress last year prohibited the Food and Drug Administration from considering applications for research in this area, but in December the U.K.'s Human Fertilization and Embryology Authority agreed to let clinics apply to try the procedure on a case-by-case basis. In March, it granted a license to carry out the first procedure to Doug Turnbull, director of the Wellcome Trust Center for Mitochondrial Research at Newcastle University.

"We're going to look to those in Britain," Botkin says, "to do careful trials and help us better understand how this technique works."

In broadest terms, Zhang and his colleagues lifted the nucleus out of the egg of the original mother, leaving behind most though not all of her defective mitochondria, which would have led to the almost certain development of Leigh syndrome in the fetus. They then placed that nucleus inside a healthy donor woman's egg, whose own nucleus had been removed. The result was a hybrid egg with the original mother's nuclear genes and the donor mother's cytoplasm and mitochondria. The hybrid egg was fertilized by the father's sperm and implanted in the birth mother.

The technique could potentially prevent a wide range of mitochondrial diseases, ranging from hereditary blindness to progressive muscle wasting.

A key problem, however, is that not all of the defective mitochondria can be eliminated. The boy, Zhang reports in the new paper, currently carries between 2.36 and 9.23 percent of potentially defective DNA, according to sampling of his urine, hair follicles and circumcised foreskin.

"That's not surprising," says Doug Wallace, head of the Center for Mitochondrial and Epigenomic Medicine at the Children's Hospital of Philadelphia, who was not involved in the study. "As far as I know, very few cases have been found where there is absolutely no carryover of mitochondria from the donor nucleus."

Even at a 9 percent load of defective DNA, Wallace said, most people with Leigh Syndrome will appear normal. He added that while it is unlikely, levels could be higher in the boy's other tissues, such as the brain or heart.

Zhang and his team report that physical examination of the boy has included detailed neurological investigation at regular waypoints, including at two weeks, four weeks, two months, three months and four months. All have proved normal, Zhang said, and the boy is still under close monitoring with "a long-term follow-up plan."

Just what such a long-term plan might look like, however, is uncertain particularly given that the parents have publicly said that they do not plan to have the boy regularly tested throughout his life to monitor levels of the errant DNA. University of California molecular biologist Patrick O'Farrell, who was not involved in the Zhang study, suggested that this was worrying, given that there could a rising load of mutations as the boy ages.

In this case, a total five eggs underwent the transfer and were fertilized, Zhang and his team reported. The embryo that was ultimately implanted carried about a 5 percent load of the defective DNA, but the researchers did not examine how much defective DNA was carried over in the embryos that were not used.

The remaining fertilized eggs are still available, says Zhang, but he has not tested them to see how much defective DNA each contains. Should the parents decide they'd like to have another baby, Zhang said he would test the others.

Still, without readily accessible data on the transfer of defective DNA in all of the fertilized eggs, O'Farrell argues that important insights are being overlooked. A three-parent baby, he said, offers the rare chance to study the "segregation and transmission of mitochondrial genomes."

In a telephone interview, Zhang emphasized that analyses are ongoing. "This is new ground, so there are many questions to ask and more studies to come," Zhang said. "With new tests in new studies, we will continue to learn more."

For all of the lingering questions, Zhang's groundbreaking research has sparked a flurry of similar research elsewhere. The editors of the journal carrying his new report credit Zhang with helping to nudge "cautious use" of mitochondrial replacement therapy in the U.K. Meanwhile, the fertility specialist Valery Zukin has used the three-parent technique in the Ukraine to help two infertile women who suffer from a syndrome known as embryo arrest, where their fertilized eggs stop growing before they can be implanted in the uterus.

Both women gave birth to apparently healthy babies this year.

Such news will surely be welcomed by desperate parents looking for new ways to conceive, but experts like O'Farrell continue to worry that the procedure is being deployed too quickly, and with too many question unanswered.

"I feel like extending this work into infertility cases is dangerous," O'Farrell says. "For every gene that compromises fertility, we need to know whether it also is going to affect later aspects of development.

"If you only rescue fertility," he adds, "the other defects that gene might cause will still be there."

Jill Neimark is an award-winning science journalist and an author of adult and children's books. Her most recent book is The Hugging Tree: A Story About Resilience.

A version of this article originally appeared at Undark, a digital science magazine published by the Knight Science Journalism Fellowship Program at MIT.

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A Baby With 3 Genetic Parents Seems Healthy, But Questions Remain - NPR

FRIDAY, March 10, 2017 (HealthDay News) -- Yet more evidence of a link between poor sleep and excess weight: A new study finds that people who are genetically prone to obesity are more likely to be overweight if they have unusual sleep habits.

"These data show that in people with high genetic risk for obesity, sleeping for too short or too long a time, napping during the day, and shift work appears to have a fairly substantial adverse influence on body weight," said researcher Dr. Jason Gill of the University of Glasgow, Scotland.

Gill, who is with the university's Institute of Cardiovascular and Medical Sciences, and colleagues looked at statistics on nearly 120,000 people in the United Kingdom.

The investigators said they found that sleeping fewer than 7 hours a night or more than 9 hours a night boosts the risk of obesity among those who are especially prone to it because of their genes.

Among those with a genetic propensity toward obesity, those who slept more than 9 hours a night were almost 9 pounds heavier than similar people who slept 7 to 9 hours. Meanwhile, those who slept less than 7 hours were a little more than 4 pounds heavier than their better-rested peers, the findings showed.

Although the study doesn't establish a direct cause-and-effect relationship, the researchers found this effect persisted regardless of diet, health problems or income level.

"However, the influence of adverse sleep characteristics on body weight is much smaller in those with low genetic obesity risk -- these people appear to be able to get away with poorer sleep habits to some extent," Gill said in a university news release.

The study was published March 1 in the American Journal of Clinical Nutrition.

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Genes Plus Erratic Sleep May Raise Odds for Obesity - Montana Standard

FRIDAY, March 10, 2017 (HealthDay News) -- Mother Nature may hit some men with a double whammy, as new research suggests genetic links between short stature and premature baldness.

German scientists were able to pinpoint "63 alterations in the human genome that increase the risk of premature hair loss," explained study leader Dr. Stefanie Heilmann-Heimbach, a human geneticist at the University of Bonn.

"Some of these alterations were also found in connection with other characteristics and illnesses, such as reduced body size," she said in a university news release.

In its research, Heilmann-Heimbach's team analyzed the genes of about 11,000 men with premature hair loss and another 12,000 men with no hair loss.

Besides the connection to short stature, the findings also confirmed a previously identified link between premature hair loss and an increased risk of prostate cancer.

But there was good news, too -- the study did not support a prior theory that men with premature baldness are at any higher risk for heart disease.

The study also uncovered links between a propensity to baldness in males who went through puberty relatively early, and to those with light skin color and increased bone density.

According to study co-author Markus Nothen, the latter two connections might be tied to vitamin D, because humans manufacture the bone-enriching nutrient when sunlight hits the skin.

So, the link between baldness, pale skin and tougher bones "could indicate that men with hair loss are better able to use sunlight to synthesize vitamin D," said Nothen, who directs the university's Institute of Human Genetics.

The finding might also help explain "why white men in particular lose their hair prematurely," he added.

Nothen stressed that "men with premature hair loss do not need to be concerned" by the new findings.

"The risks of illness are only increased slightly," he noted. "It is, however, exciting to see that hair loss is by no means an isolated characteristic, but instead displays various relationships with other characteristics."

The study was published recently in the journal Nature Communications.

The American Academy of Family Physicians has more on hair loss.

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Short, Bald Men May Have Their Genes to Blame - Montana Standard

March 9, 2017 In the Department of Genomics at the Life & Brain research center: Dr. Andreas Forstner (seated at the front), associate professor (Privatdozent) Dr. Rupert Conrad and psychologist Stefanie Rambau. Credit: Katharina Wislsperger/UKB-Ukom

People with social anxiety avoid situations in which they are exposed to judgment by others. Those affected also lead a withdrawn life and maintain contact above all on the Internet. Around one in ten people is affected by this anxiety disorder over the course of their life. Researchers at the University of Bonn have now found evidence for a gene that is believed to be linked to the illness. It encodes a serotonin transporter in the brain. Interestingly, this messenger suppresses feelings of anxiety and depressiveness. The scientists want to investigate this cause more precisely and are thus looking for more study participants. The results will be published in the journal Psychiatric Genetics.

Heart palpitations, trembling and shortness of breath: those who suffer from social phobia avoid larger groups. Verbal tests or everyday arrangements are filled with fear - after all, other people could make a negative judgement. Those affected often avoid such situations for this reason. Contact is often easier over social media or anonymously over the Internet. Social phobias are among the psychiatric disorders that are triggered simultaneously by genetic and environmental factors. "There is still a great deal to be done in terms of researching the genetic causes of this illness," says Dr. Andreas Forstner from the Institute of Human Genetics at the University of Bonn. "Until now, only a few candidate genes have been known that could be linked to this."

Individual base pairs can vary in the DNA

Together with the Clinic and Policlinic for Psychosomatic Medicine and Psychotherapy at the University Hospital Bonn, Dr. Forstner is conducting a study into the genetic causes of social phobia. The research team investigated the DNA of a total of 321 patients and compared it with 804 control individuals. The focus of the scientists lay on what are known as single nucleotide polymorphisms (SNPs). "There are variable positions in the DNA that can exist to various degrees in different people," explains Dr. Forstner.

The cause of genetic illnesses often lies in the SNPs. It is estimated that more than thirteen million such changes exist in the human DNA. The scientists investigated a total of 24 SNPs that are suspected in the widest sense of being the cause of social phobias and other mental disorders. "This is the largest association study so far into social phobia," says associate professor (Privatdozent) Johannes Schumacher from the Institute of Human Genetics at the University of Bonn.

Patients provided information about their symptoms

Over the course of the study, scientists at the Clinic and Policlinic for Psychosomatic Medicine and Psychotherapy at the University Hospital Bonn will ask the patients about their symptoms and the severity of their social phobia. Their DNA is also examined using a blood sample. Whether there is a link between the signs of the illness and the genes is being investigated by the scientists using statistical methods. The evaluation of the previously collected data indicated that an SNP in the serotonin transporter gene SLC6A4 is involved in the development of social phobia.

This gene encodes a mechanism in the brain that is involved in transporting the important messenger serotonin. This substance suppresses, among other things, feelings of fear and depressive moods. "The result substantiates indications from previous studies that serotonin plays an important role in social phobia," says associate professor (Privatdozent) Dr. Rupert Conrad from the Clinic and Policlinic for Psychosomatic Medicine and Psychotherapy. Medications that block serotonin reuptake and increase the concentration of the messenger in the tissue fluid in the brain have already long been used to treat anxiety disorders and depression.

Subjects can participate in expanded study

The scientists now want to investigate more closely what the links are between the DNA and social phobia. "In order to achieve this goal, we need many more study participants who suffer from social anxiety," says the psychologist and study coordinator Stefanie Rambau from the Clinic and Policlinic for Psychosomatic Medicine and Psychotherapy at University Hospital Bonn. Information about the study is available at http://www.SocialPhobiaResearch.de. "Those who take part will help to research social phobia. This is the basis of better diagnosis and treatment procedures in the future," says Stefanie Rambau.

Explore further: Psychotherapy normalizes the brain in social phobia

More information: Andreas J. Forstner et al, Further evidence for genetic variation at the serotonin transporter gene SLC6A4 contributing toward anxiety, Psychiatric Genetics (2017). DOI: 10.1097/YPG.0000000000000171

Anxiety in social situations is not a rare problem: Around one in ten people are affected by social anxiety disorder during their lifetime. Social anxiety disorder is diagnosed if fears and anxiety in social situations significantly ...

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(Medical Xpress) -- A recent study from the Centre for Emotional Health, Macquarie University, has found children with social phobia are judged as less attractive and are less liked by their peers, than children without anxiety ...

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Social phobia: Indication of a genetic cause - Medical Xpress - Medical Xpress

NEW YORK (GenomeWeb) Before the National Institutes of Health can begin to genetically test participants within its precision medicine initiative, it will have to figure out what results to return, how to minimize reporting false positives, and how to provide counseling to help them navigate the often uncertain and evolving evidence on genetic information.

And the project will have to figure out how to do all this on an unprecedented scale, for a million participants that the All of Us Research Program hopes to enroll over the next four years.

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Precision Medicine Project Mulls How to Return Genetic Test Results to 1 Million Participants - GenomeWeb

By Kristy Kirkup, The Canadian Press on March 8, 2017.

OTTAWA Liberal backbenchers have defied Prime Minister Justin Trudeau, voting in favour of a bill that would bar health and life insurance companies from forcing clients to disclose the results of genetic testing.

Just hours before the vote late Wednesday in the House of Commons, Trudeau said the proposed law is unconstitutional because it intrudes on provincial jurisdiction. He recommended that MPs vote against it.

But most Liberal backbenchers, along with Conservative and New Democrat MPs, ignored Trudeaus warning. The bill passed by a vote of 222-60.

It was a free vote, meaning Liberal backbenchers were not required to toe the party line. They did, however, come under pressure from the government, including Trudeau.

Earlier in the day, Trudeau told a news conference that the federal government has to consider multiple factors when making decisions on legislation, including defending the rights of Canadians and upholding their freedom from discrimination.

He added that it also has to defend the Constitution and the balance of power between federal and provincial jurisdictions, he added.

The government has taken a position that one of the elements in the proposed bill is unconstitutional, Trudeau said. That is the recommendation we had and the government position is to vote against that particular element in the bill.

Justice Minister Jody Wilson-Raybould had gone to some lengths to rally opposition to the bill. Last week, she sent a letter to the head of the Council of the Federation, which comprises the countrys premiers, which appeared designed to solicit provincial and territorial support for the federal governments position.

Given the important constitutional issues in play, we call on the Council of the Federation to communicate its views on the constitutionality of Bill S-201s proposal to regulate all contracts, agreements, and goods and services to prohibit genetic discrimination, Wilson-Raybould wrote.

The insurance industry has fiercely opposed an aspect of the legislation that would make it illegal for anyone to require a person to undergo genetic testing, or disclose the results of previous tests, as a condition of signing or continuing an insurance policy or any other good, service, contract or agreement.

If passed, it would also prohibit anyone from sharing genetic testing results without written consent, although there are exceptions for physicians and researchers.

A breach of the proposed law would result in a fine of up to $1 million, or five years behind bars.

The government had proposed an amendment that would have stripped the bill of everything except the power to make genetic characteristics a prohibited ground of discrimination under the Canadian Human Rights Act. It was defeated by a vote of 218-59.

The amendment would have gutted the legislation, said Rob Oliphant the Liberal MP who shepherded the bill, originally proposed by now-retired Sen. James Cowan, through the Commons.

It would have meant the bill would apply only to federally regulated employees, who account for just five to seven per cent of the population.

Oliphant argued that the bill is an appropriate federal response in an area where provinces and territories have failed to act for a dozen years. And he noted that three legal experts testified before the Commons justice committee about its constitutionality.

with files from Joanna Smith

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Liberals defy PM, approve genetic testing bill he calls unconstitutional - Medicine Hat News

Newswise When it comes to having good health or getting sick, a persons genetic code is important. But so is a persons zip code. These strong influences are all part of precision medicine, which includes analysis of an individuals genes, environment and lifestyle to inform disease prevention and treatment.

Yet genes tend to be the main focus in research and practice, often leaving out the social and environmental parts of the story. Researchers at Ann & Robert H. Lurie Childrens Hospital of Chicago propose new terminology for social and environmental influences on health, in efforts to balance the predominant emphasis on genes in precision medicine. Their proposal, entitled The Missing Omes: Proposing Social and Environmental Nomenclature in Precision Medicine, was published in Clinical and Translational Science.

Although where a child lives and goes to school often has more bearing on his or her health than the genetic code, social and environmental factors get far less attention than the genetic influences in precision medicine research, says lead author Matthew Davis, MD, MAPP, Division Head of Academic General Pediatrics and Primary Care at Lurie Childrens, and Professor of Pediatrics and Medical Social Sciences at Northwestern University Feinberg School of Medicine. We hope that the broader and more consistent terminology we propose will facilitate more collaboration across scientific disciplines. Whenever we open new lines of communication between fields that rarely talk with one another, the possibility of advancing understanding and improving health grows exponentially.

The authors suggest a naming system that expands the -omes discussed in precision medicine, such as the genome or proteome, which describe the factors within an individuals body that impact disease or wellness. They call these internal domains the endome. Similarly, they refer to the many influences on health that come from outside the individual as the ectome. For example, health-related aspects of a persons social support network are called the philome and diet-related factors fall into the nutriome, while health-affecting components of water sources belong in the hydrome.

By adding the social and environmental -omes we hope to expand the precision medicine paradigm and encourage more comprehensive data collection in efforts to understand and prevent disease, says co-author Thomas Shanley, MD, Chair of the Department of Pediatrics at Lurie Childrens and Northwestern University Feinberg School of Medicine, Chief Research Officer at the Stanley Manne Childrens Research Institute, and the Founders Board Centennial Professor. We need a common language and inclusion of all the known determinants of human health to push the field of precision medicine forward.

To advance these concepts and develop a repository of rigorous measures for the different -omes, the authors have launched a website http://www.omecentral.org. We hope that OmeCentral.org will serve as an online forum for scientists, spurring conversation and innovative ideas, says Davis, who is the A Todd Davis, MD, Professor and Director of the Mary Ann & J. Milburn Smith Child Health Research Program. He also serves as Associate Chief Research Officer for Health Services and Policy Research at the Stanley Manne Childrens Research Institute at Lurie Childrens. We welcome experts in different fields to suggest the most appropriate objective measures for the various social and environmental impacts on health.

Research at Ann & Robert H. Lurie Childrens Hospital of Chicago is conducted through the Stanley Manne Childrens Research Institute. The Manne Research Institute is focused on improving child health, transforming pediatric medicine and ensuring healthier futures through the relentless pursuit of knowledge.

Lurie Childrens is ranked as one of the nations top childrens hospitals in the U.S.News & World Report. It is the pediatric training ground for Northwestern University Feinberg School of Medicine. Last year, the hospital served more than 198,000 children from 50 states and 51 countries.

SEE ORIGINAL STUDY

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Proposal Urges Stronger Focus on Social and Environmental Factors in Precision Medicine - Newswise (press release)

Optimal clinical assessment and subsequent followup of patients with or suspected of having a hereditary renal cell carcinoma syndrome (hRCC) is not standardized and practice varies widely. We propose protocols to optimize these processes in patients with hRCC to encourage a more uniform approach to management that can then be evaluated.

A review of the literature, including existing guidelines, was carried out for the years 1985-2015. Expert consensus was used to define recommendations for initial assessment and followup.

Recommendations for newly diagnosed patients' assessment and optimal ages to initiate followup protocols for von Hippel Lindau disease (VHL), hereditary papillary renal cancer (HPRC), hereditary leiomyomatosis with renal cell carcinoma (HLRCC), Birt-Hogg-Dub syndrome (BHD), familial paraganglioma-pheochromocytoma syndromes (PGL-PCC), and tuberous sclerosis (TSC) are proposed.

Our proposed consensus for structured assessment and followup is intended as a roadmap for the care of patients with hRCC to guide healthcare providers. Although the list of syndromes included is not exhaustive, the document serves as a starting point for future updates.

Canadian Urological Association journal = Journal de l'Association des urologues du Canada. 2016 Jul 12 [Epub]

Jean-Baptiste Lattouf, Stephen E Pautler, M Neil Reaume, Raymond H Kim, Melanie Care, Jane Green, Alan So, Philippe D Violette, Issam Saliba, Philippe Major, Shane Silver, Richard Leicht, Joan Basiuk, Simon Tanguay, Michael A S Jewett, Darrel Drachenberg, Kidney Cancer Research Network of Canada

Division of Urology, Department of Surgery, University of Montreal Hospital Centre, Montreal, QC, Canada., Divisions of Urology and Surgical Oncology, Departments of Surgery and Oncology, Western University, London, ON, Canada., Division of Medical Oncology, The Ottawa Hospital Cancer Centre, University of Ottawa, Ottawa, ON, Canada., Division of Medical Oncology, Department of Medicine, Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, ON, Canada., Fred A. Litwin Family Centre in Genetic Medicine, University Health Network & Mount Sinai Hospital, Toronto, ON, Canada., Disciplines of Genetics and Medicine, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL, Canada., Department of Urologic Sciences, Faculty of Medicine, Vancouver General Hospital and University of British Columbia, Vancouver, BC, Canada., Division of Urology, Department of Surgery, Woodstock General Hospital, Woodstock, ON, Canada., Division of ENT, Department of Surgery, University of Montreal Hospital Centre, Montreal, QC, Canada., CHU Sainte-Justine, Department of Neurosciences, University of Montreal, Montreal, QC, Canada., Faculty of Medicine and the Division of Dermatology, University of Manitoba, Winnipeg, MB, Canada., Department of Ophthalmology, Faculty of Medicine, University of Manitoba, Winnipeg, MB, Canada., Kidney Cancer Research Network of Canada, Toronto, ON, Canada., Division of Urology, McGill University, Montreal, QC, Canada., Division of Urology, Departments of Surgical Oncology and Surgery, Princess Margaret Cancer Centre and the University Health Network, University of Toronto, Toronto, ON, Canada., Section of Urology, Department of Surgery, University of Manitoba, Winnipeg, MB, Canada.

PubMed http://www.ncbi.nlm.nih.gov/pubmed/28255411

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Structured assessment and followup for patients with hereditary kidney tumour syndromes. - UroToday

March 8, 2017 White fat stores energy, while brown fat dissipates energy by producing heat, mediated by uncoupling protein 1, or UCP1. Credit: Ray Soccio, MD, PhD, Perelman School of Medicine, University of Pennsylvania

By comparing two strains of miceone that becomes obese and diabetic on a high-fat diet and another resistant to a high-fat regimenresearchers from the Perelman School of Medicine at the University of Pennsylvania identified genome-wide changes caused by a high-fat diet.

The a team, led by Raymond Soccio, MD, PhD, an assistant professor of Medicine, and Mitchell Lazar, MD, PhD, director the Institute for Diabetes, Obesity, and Metabolism, published their findings online in the Journal of Clinical Investigation (JCI), in addition to an Author's Take video.

"We focused on the epigenome, the part of the genome that doesn't code for proteins but governs gene expression," Lazar said.

Their research suggests that people who may be genetically susceptible to obesity and type 2 diabetes due to low levels of a protein that helps cells burn fat, may benefit from treatments that ultimately increase the fat-burning molecule.

The team looked at the interplay of genes and environment in two types of white fat tissue, subcutaneous fat (under the skin) versus visceral fat around abdominal organs. The latter correlates strongly with metabolic disease. This visceral fat shows major gene expression changes in diet-induced obesity. The JCI study confirmed this relationshipand importantlyextended these findings to show that the epigenome in visceral fat also changes on a high fat diet.

Diet-induced epigenomic changes in fat cells occur at histones - proteins that package and order DNA in the nucleus, which influences gene expression - across the genome. There were also changes in the binding to DNA of an essential fat cell protein, a transcription factor called PPARgamma.

The team next treated obese mice with the drug rosiglitazone, which targets PPARgamma in fat to treat diabetes in people. "While the drug-treated obese mice were more insulin sensitive, we were surprised to see that the drug had little effect on gene expression in visceral fat," Soccio said. "This led us to look at subcutaneous fat and we discovered that this depot is much more responsive to the drug."

"These results are clinically relevant and indicate that the 'bad' metabolic effects of obesity occur in visceral fat, while the 'good' effects of rosiglitazone and other drugs like it occur in subcutaneous fat," Lazar said.

In particular, the drug-induced changes they found in subcutaneous fat reflected the phenomenon of browning, in which white fat takes on characteristics of brown fat, typically in response to cold exposure or certain hormones and drugs.

White fat stores energy, while brown fat dissipates energy by producing heat, mediated by uncoupling protein 1, or UCP1. The most interesting discovery of the study, say the authors, involves UCP1.

They showed that rosiglitazone, as expected, increases Ucp1 expression in both obesity-prone and obesity-resistant strains of mice. However, in subcutaneous fat of the obesity-resistant mice, Ucp1 expression was high even in the absence of the drug. "But the real surprise came when we looked at the offspring of obesity-resistant and obesity-prone parents, which have one of each parent's version of the Ucp1 gene," Soccio said.

Strikingly, they found that the obesity-prone mouse strain's version of the Ucp1 gene has lower expression and less PPARgamma binding than the obesity-resistant version. This imbalance shows that the obesity-prone mouse strain's Ucp1 is genetically defective, since it is less active than the other strain's version, even when both are present in the same cell nucleus.

In their final experiments, the team asked what happens when browning and Ucp1 expression are activated using rosiglitazone or exposure to cold, both environmental factors. They found that in both cases, total Ucp1 expression goes up as expected, but the obesity-prone strain's defective version of Ucp1 now reaches equal levels to the obesity-resistant strain's version.

"Importantly, we were only changing the mouse's environment with a drug or temperature, not the actual DNA sequence of the Ucp1 gene," Lazar said. "We propose that this result indicates epigenomic rescue of Ucp1 expression in subcutaneous fat cells."

The team is following up the mouse studies using human fat biopsies to figure out the exact DNA sequence differences responsible for variable Ucp1 expression, both in mice and in humans.

The relevance of this study extends even beyond UCP1 and obesity. "Many gene variants are thought to exert their effects by ultimately altering gene expression levels, and this study shows that a genetic predisposition to altered gene expression can be identified and then overcome with treatment," Lazar said. "This is the dream of precision medicine, and hopefully our study is a step in this direction."

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By comparing two strains of miceone that becomes obese and diabetic on a high-fat diet and another resistant to a high-fat regimenresearchers from the Perelman School of Medicine at the University of Pennsylvania identified ...

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Study parses influence of genes and environment in metabolic disease - Medical Xpress

the Irish News

New genetic research provides hope for families with rare diseases the Irish News THE Northern Ireland Regional Genetics Centre was set up in 1968 and is part of a network of 24 Genetics Centres across the UK. The centre, spearheaded by consultant in genetic medicine Dr Shane McKee, have been involved in the design and operation ...

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New genetic research provides hope for families with rare diseases - the Irish News

Researchers in the Department of Molecular and Human Genetics at Baylor College of Medicine have identified a previously unimplicated gene behind a particular form of chondrodysplasia, a skeletal dysplasia that affects cartilage formation and causes disproportionate short stature and premature osteoarthritis. The study appears in the Journal of Clinical Investigation.

Stemming from research being performed at Baylor and its genetics department as part of a systematic search for genetic causes of skeletal dysplasias, the project set out to identify the genetic driver behind Shohat type spondyloepimetaphyseal dysplasia (SEMD). It was led by Dr. Brendan Lee, professor and chair of molecular and human genetics at Baylor, and a team of researchers including project leader Adetutu Egunsola, a genetics graduate student.

SEMD is a rare type of skeletal dysplasia that impacts the development of cartilage and results in a form of dwarfism, characterized by a particular pattern of joint abnormalities, scoliosis and defects of the long bones.

Through combined whole exome sequencing and studies in zebrafish and mice, Lee and his team were able to identify a completely new gene associated with this skeletal dysplasia, DDRGK1, and discovered how it functions in cartilage. In zebrafish, for example, a DDRGK1 deficiency disrupts craniofacial cartilage development and causes a decrease in levels of the protein SOX9.

Not only did we discover the requirement of DDRGK1 in maintaining cartilage, but we also found that it to be a regulator of SOX9, which is the master transcription factor that controls cartilage formation the human skeleton, said Lee, who also holds the Robert and Janice McNair Endowed Chair in molecular and human genetics. If you do not have the SOX9 protein, you do not have cartilage it drives the production of cartilage in growth plates and joint cartilage all over the body.

The relationship between DDRGK1 and SOX9 reveals a novel mechanism that regulates chondrogenesis, or cartilage maintenance and formation, by controlling SOX9 ubiquitination, a process that controls the degradation of proteins like SOX9. Loss of the function of DDRGK1 causes this cartilage dysplasia in part via accelerated destruction of SOX9.

Studying this skeletal dysplasia resulted in the biological insight about this gene that had never been implicated in any disease condition related to the skeleton, Lee said. The future is to find out whether DDRGK1s function more globally controls ubiquitination in general and to determine how this process could be targeted for treating patients with dwarfism.

Other contributors to this work include Richard Gibbs, Adetutu T. Egunsola, Yangjin Bae, Ming-Ming Jiang, David S. Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen and James T. Lu with Baylor, Nurit Magal with Rabin Medical Center, Annick Raas-Rothschild with Sheba-Tel Hashomer Medical Center, Eric C. Swindell with the University of Texas Graduate School of Biomedical Sciences, Lisette Nevarez and Daniel H. Cohn with the University of California, Philippe M. Campeau with the University of Montreal and Mordechai Shohat with the Sackler School of Medicine at Tel Aviv University.

This research was supported by the BCM Intellectual and Developmental Disabilities Research Center and a Program Project grant from the Eunice and Kennedy Shiver National Institute of Child Health and Human Development, the BCM Advanced Technology Cores with funding from the NIH, the Rolanette and Berdon Lawrence Bone Disease Program of Texas, the BCM Center for Skeletal Medicine and Biology and Tel Aviv University.

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Genetic driver behind rare skeletal dysplasia condition found - Baylor College of Medicine News (press release)

The HudsonAlpha Institute for Biotechnology in Huntsville is establishing a new program for people interested in learning about various hereditary disease risks.

The program is called Insight Genome, and it will provide interested patients information about various risks for specific medical conditions. Patients will receive a clinical report which can be used for personal or physician use along with a pharmacogenomic report, which shows you how you will respond to certain medications based on your genetics.HudsonAlpha associate company Kailos Genetics will provide that report.

Those who enter this $7,000 program can also participate in a research study program, which could lead to more personalized information based on your genome.

Howard Jacob, Ph.D., announces Insight Genome at HudsonAlpha Monday afternoon.

People participating in Insight Genome will have their whole genome sequenced by having blood and saliva samples taken. This will allow researchers to determine genetic codes, which is used to learn more about disease risks. The tests are conducted at the not-for-profit institute's Smith Family For Genomic Medicine, and doctors will look at more than 2,000 genes. Using the information gathered from the sequencing, the doctors will be able to determine disease risks for various conditions including Alzheimer's, various cancers and ALS.

Whole genome sequencing offers information not found in one comprehensive tool elsewhere, says HudsonAlpha executive vice president for genomic medicine Howard Jacob, Ph.D., Many people have heard us talk about rare, undiagnosed disease and how do we apply this technology, but the holy grail is how do we deploy this for everybody?

The entire testing process takes approximately three months. Insurance does not cover the $7,000 expense, and you must be 19 or older to qualify for this program.

You can call the Smith Family Clinic for Genomic Medicine to schedule an appointment at 256-327-9640. You will need a physician referral.

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HudsonAlpha establishes service to determine genetic risks - WAAY

During his final State of the Union address in January 2016, President Obama announced a $1 billion initiative to jumpstart cancer research. Inspired by our country's drive to put a man on the moon in the 1960s, he called it the "Moonshot" initiative to accelerate development of new cancer detections and treatments. This is right in line with Huntsman Cancer Institute (HCI) at the University of Utahan organization that already shoots for the moon with its research in precision medicine.

Precision medicine takes into account individual differences in people's genes, environments, and lifestyles. It gives researchers and health care providers' tools to better understand the complex mechanisms underlying a person's health, disease, or condition, and to better predict which treatments will be most effective. This is transforming the way diseases such as cancer can be treated.

Randall Burt, MD, emeritus director of prevention and outreach at HCI, says he is thrilled about the President's announcement. Burt has worked to discover the genetics of inherited colorectal cancer syndromes for decades. He was a leader of the team that in 1987 discovered a mutation in the gene called FAP that's responsible for one such syndrome.

With precision medicine, doctors look at a patient's family history to discover clues about possible inherited genetic mutations and use that information to guide cancer prevention and treatment efforts. Dr. Burt says, "Genetic testing can determine which individuals are predisposed to get cancer and determine optimal therapies."

Gregg Johnson is one of those individuals. He lost his mother and grandmother to cancer at young ages. Doctors at HCI discovered a genetic mutation within Gregg's family that will cause him to have colon cancer. Since that discovery, Gregg has regular screening through a yearly colonoscopy and attributes early prevention as the key to his health. He says, "I've outlived my mother by almost a decade and a half now, and it's because of what we've come to know and understand about genetics."

Dr. Burt expects that the Moonshot initiative will help further genetic research to find more genes that lead to high risk for cancer. The hope is this research will help prevent cancer before it ever occurs and, says Dr. Burt, "increase the survival rate to 100%."

For more information on precision medicine and the Moonshot initiative, visit http://www.huntsmancancer.org/precision-medicine.

Huntsman Cancer Institute (HCI) is a National Cancer Institute (NCI)-Designated Comprehensive Cancer Center, which means it meets the highest standards for cancer research and receives support for its scientific endeavors. HCI is located on the campus of the University of Utah in Salt Lake City and is a part of the University of Utah Health Care system. HCI treats patients with all forms of cancer and operates several high-risk clinics that focus on melanoma and breast, colon, and pancreas cancers, among others. HCI also provides academic and clinical training for future physicians and researchers. For more information about HCI, please visit http://www.huntsmancancer.org.

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Shooting for the Moon: Advancing Cancer Research through Precision Medicine - KBTV Fox 4 Beaumont

March 7, 2017 Dr. Moreno's team. Credit: IDIBELL

Researchers of the Colorectal Cancer research group of Bellvitge Biomedical Research Institute (IDIBELL), led by Dr. Vctor Moreno, and linked to the Catalan Institute of Oncology (ICO), the University of Barcelona (UB) and the Epidemiology and Public Health CIBER (CIBEResp), have issued the first predictive risk model of colon and rectal cancer based on Spanish data that combines genetic and lifestyle information. Their work, published by Scientific Reports, highlights the importance of improving lifestyle to reduce the risk of colon cancer and suggests to use a combination of lifestyle and genetic information to subdivide the population into different groups according to their colon cancer risk, which would fine tune the current screening method.

"A risk model is a mathematical tool that allows us to predict who is most likely to suffer from a particular disease, in this case colon cancer," explains Dr. Moreno, head of ICO's Cancer Prevention and Control Program. In order to develop this model, the researchers used data from the 10,106 participants included in the "MCC-Spain" Spanish multicentre study, carried out collectively by researchers belonging to CIBEResp. All of them were interviewed to analyze known risk factors (diet, physical exercise, body mass index, alcohol and family history of cancer, among others) and in a subgroup of 1,336 cases of colorectal cancer and 2,744 controls a blood test was performed to detect the genetic predisposition to develop colon and rectal cancer.

With all this information, the research team concluded that lifestyle influences cancer risk more than genetics. They calculated that if a risky lifestyle choice is changed (for example, if a healthy weight is obtained), this can compensate for having 4 genetic risk predisposition points (risk alleles). "This is important considering that lifestyle, unlike genetic traits, is somewhat modifiable, while genetic susceptibility is inherited from our parents", says Dr. Gemma Ibez, a digestologist and first author of the study; "In fact, the items we have identified as risk markers correlate with the recommendations set by the European Cancer Code to reduce the risk of cancer."

"Today, screening for colon cancer in patients with no family history is based solely on age. If we include information about lifestyle and genetics, we could classify the population into groups of greater or lesser risk, which would allow us to offer a more personalized follow-up", adds Dr. Moreno, who is also a professor at the UB Faculty of Medicine and Health Sciences.

At the moment, the research team that participated in the study is conducting a new study called COLSCREEN: "Personalization of the risk of colorectal cancer" to, among other things, find out about the social perception about genetic screening. "There are no studies that say what patients think about genetic tests, or whether they want to be informed of their chances of having certain diseases, and we think it is very relevant," says Dr. Ibanez. At the same time, with this new study the researchers want to evaluate the utility of the risk score system for colon cancer by applying it prospectively in the population of Baix Llobregat.

Explore further: Men with high genetic chance of bowel cancer could have lower risk with healthy lifestyles

More information: Gemma Ibez-Sanz et al, Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study, Scientific Reports (2017). DOI: 10.1038/srep43263

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Lifestyle choices condition colon and rectal cancer risk more than genetics - Medical Xpress

The digital revolution is changing the way doctors work. Within the next few years, doctors workloads will be reduced, healthcare costs will be slashed, and diagnoses will be faster as the digital healthcare innovation reinvents the way medicine is practiced. Billions of rand will be saved as advances in technology are embraced by the medical fraternity. The new technology will empower patients to take responsibility for their health. This is not science fiction; its a growing reality. People are already able to wear a device that monitors their activity, checking how much exercise or sleep theyre getting. They can swallow tiny devices that monitor the gut biome, stress levels, insulin levels and transmit valuable data to their doctors who can make early diagnoses of potential health risks. More than a decade ago, Google was a search engine and Amazon was an online book store. Now they are at the forefront of the revolution in digital healthcare with their data-rich innovations that enable doctors to discover patterns and causes of diseases. In South Africa, Discovery Health has embraced the changes in technology and uses its own Vitality member data to advance this new approach to medicine. David OSullivan spoke to Deputy CEO Ryan Noach about Discovery Healths initiatives.

Ryan, what are we talking about when we speak about digital healthcare, whats that all about?

Much like many other industries around the world, David, the world of healthcare is being completely revamped by some of the innovation in the digital sector. Right across the healthcare chain were seeing majorly exciting developments that are just changing the way we diagnose and treat disease, the way patients interact with doctors, and the way medical records are stored. To be honest, my view is that healthcare has been too slow to embrace some of these trends, but Im quite sure that in years to come the way healthcare is going to be delivered will look different and be practiced differently than it is today.

My initial assumption was, if were talking about digital healthcare, it meant going onto the internet and diagnosing myself with whatever illness might prevail. I thought that might be dangerous, but its not doing that is it, its using technology to empower patients. Flesh it out for me Ryan, what is it that patients use, how does the technology work to give doctors the correct data to help them with an accurate diagnosis?

Well, the consumer element that youre talking about is very popular and becoming more and more popular, and there are a large number of online sources of medical information that consumers use every day. Ive heard doctors talking to each other saying to patients, Dont confuse your Google search with my medical degree, which is said in jest, but actually there is this consumerism happening around the world where consumers (and we believe strongly at Discovery), should become much more proactive about their healthcare. Healthcare is unfortunately a situation where theres a real asymmetry of information. The patients are generally not well-informed; its a complex situation and they frequently are scared.

The doctors are typically very well-informed and so digital healthcare is crossing some of this divide and ensuring that there is much better symmetry of information, and that patients have reliable information at their fingertips. One of the things were seeing is the evolution of artificial intelligence which is already changing doctors jobs. Today, patients search online for answers, but artificial intelligence that uses very smart cognitive engines that have ingested huge volumes of data in the background can provide you with an accurate answer with very high confidence intervals. At Discovery were investing in one such service, which we will provide to Discovery members later this year.

This artificial intelligence engine is supported by many thousands of doctors around the world and we hope by many thousands of doctors in South Africa, which is able to answer a range of questions with a very high confidence interval. So certainly that is one part of it, but the other part of it that you were asking about is how does it help doctors make diagnoses? At the most simple level we see that central to a good diagnosis is having all the information at your fingertips. Electronic health records which have centralised the recording of all clinical data in one place and given the doctors via their smartphones, their tablets or web access, immediate comprehensive clinical history for the patient theyre treating, is extremely powerful in and of itself. We see anecdotes. Discovery Health ID is an application that does this for doctors.

We have 2,200 of our doctors using it every day in their practices and we see anecdotes every day of how this changes doctors practices. Ill give you some concrete examples just to make it real. A dermatologist told us recently that a rash that he had been unable to diagnose, when he looked at the electronic health record on Health ID, he recognised that in fact, the timing of the rash was related to a medicine, a drug prescribed by a doctor which the patient had forgotten to tell him about. He was able to immediately link the rash to the medicine, and attributed it to an adverse drug interaction and resolved that situation. Sometimes there are far more serious circumstances.

We heard of an anaesthetist recently who was about to put a child to sleep for a simple anaesthetic and looked at the Health ID record on the Discovery Health ID platform and found that there was a critical cardiac defect that this child had that the mother had in her anxiety about the procedure completely forgotten to tell the anaesthetist about. It changed the way he delivered the anaesthetic. So from the relatively minor to the seriously important interventions, this centralisation of records is critical.

Weve seen three waves of digital innovation in healthcare. The first starting in the early 2000s was driven by the availability of 3G and devices becoming much more portable. This enabled telemedicine, where one was able to get a consultation remotely which has certainly changed the way doctors have delivered care and consultations in remote places. The second wave, which started around 2010 or just before, really related to the electronic health records that I have been talking about. Were right in the teeth of the third wave of digitisation now, which is much more about empowering the consumer. Its about using Big Data to find disease inflection points, where diseases are going to get worse, where patients are at risk on a personalised basis. It is about combining health risk factors with genetic information to understand an individuals risk profile and using artificial intelligence to support diagnostics, and then connecting the doctor and the patient to each other in a very seamless and portable way.

Im also impressed with the technology thatll empower patients to take responsibility. The wearable or even ingestible automatic devices that monitor and transmit relevant information, tell me a bit more about that.

This term has been coined, the quantified self and patients are really able these days (I shouldnt say patients), people are really able these days to measure everything about themselves. I wear a wearable device every day, I measure how many steps I take, I look at my heart rate through the day, I measure the intensity of my exercise and these wearables are advancing to be able to measure stress, to track your sleep, to track all aspects of your behaviour and we really are able to quantify everything around ourselves through these sophisticated sensors.

As you say, they have advanced to the point where now there are ingestible sensors too. You swallow a pill, its a smart pill and its able to make all sorts of measurements and readings inside your intestines and transmit that through Bluetooth or another mechanism to a device externally and so you can make diagnosis from the inside out. Ultimately, our view is that this quantified self-environment, all these different measures will be combined with genetic measures or precision medicine to really personalise healthcare. Itll mean that for a particular individual, your own personal physiology which is being measured, your own personal diagnostics in the context of your genetic makeup will really mean that you can get a personal healthcare tailored solution to your particular risks and needs.

In South Africa, do the medical aid schemes keep pace with the technology; do they understand that, does the council for medical schemes understand what is happening with increased digitisation around the world?

I think everybody in the healthcare sector is feeling this digitisation and its impossible to hold it back. Its being thrust upon us and consumers are adopting it broadly everywhere. I can only speak for Discovery and at Discovery weve really embraced these technology trends in a large way. Weve delivered Discovery Health ID for four years now. Over the four years its been a hard process of changing the way doctors consult with patients to get them to use a digital interface as part of the consultation process. But as I said earlier were now seeing doctors very engaged and more than 2,000 of them are using it every single day and a large number are using it intermittently. It really means results at their fingertips. So in terms of that second wave weve been successful.

From the quantified-self perspective, our Vitality Active Rewards Benefit, which uses the Apple watch as the wearable device (which you can get for free on a fully funded basis if youre continually active), has meant that weve seen a huge number of people, 300,000 of our members in a very short space of time actively measuring and tracking their physical activity, and being incentivised through weekly rewards that we offer to meet targets. Weve seen a precipitous improvement, (way beyond what we actually ever expected, to be frank), in the activity levels of these members. Weve seen on average, a 24 percent increase in the activity levels of all Active Rewards members and for those wearing the wearable device, the Apple watch in our context, their activity has increased by almost 80 percent.

Tell me about the investment in DNA sequencing. I see that in the United States it received R55bn in funding last year alone, thats a phenomenal amount of money. It seems that people can send saliva samples for analysis to quantify their genetic susceptibility to a wide range of diseases. Is that something that is encouraged here in South Africa?

Yes, its a rapidly evolving side of medicine and I think if I were back at medical school today that would probably be the field I would want to choose as the explosive growth field. Just over two years ago we were nowhere near as advanced as we are today. There are two things happening. Firstly theyre recognising more and more of the important sites within the genetic DNA. Within the DNA makeup that are relevant sites in respective diseases and risk factors, and so this is a big mapping exercise of millions and millions of data streams to try and find exactly which part of your genome, your genes are responsible for a risk or a health issue. The second part of it is that because its becoming so commoditised its becoming much more affordable. Therefore, we have more information thats more accessible and you can imagine what that means for diagnostics and for interventions.

In many parts of the world now its routinely screened. In South Africa, thats not the case yet its certainly not routine. There are very few sites (two that I know of in South Africa), that are able to sequence the full genome (in other words, the mapped out portion of the DNA) and they are still for research purposes. They are not being used commercially yet, so most of the sequencing in South Africa is actually being done overseas where a full exome sequence is required. In oncology medicine the treatment of certain tumours is now very closely linked to the genetic makeup of those tumours and so it has become routine, including in South Africa to do genetic analysis of many of the tumours for cancer treatment plans.

So for somebody who wants to embrace the technology, is the Apple watch one of the fundamental starting points?

Well, it doesnt have to be the Apple watch. Weve partnered Apple as a leading technology supplier, but we do partner with other wearable suppliers too.. Our data demonstrates a material improvement in physical activity and engagement in physical activity, or understanding of what your body is doing and needing through the use of a wearable device. So I would say, get on the train and join this quantified-self world, get a wearable and track your behaviour day-to-day.

Wheres the best place to get information, the Discovery website?

The Discovery website certainly the Active Rewards Page has a lot of information about this and if you go to a reliable Google site and you Google wearable devices, theres a fortune of information there.

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At forefront of digital healthcare revolution: Discovery Health helps reinvent way medicine is practiced. - BizNews

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