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Archive for the ‘Genetics’ Category

Invitae Launches Invitae Discover Research Platform on Apple Watch; First Study on Platform Will Investigate Genetic Causes of Cardiovascular Disease…

Friday, November 15th, 2019

--Study announced in conjunction with American Heart Association's Scientific Sessions--

--Researchers also presenting data on limitations of highly targeted screening strategies in familial hypercholesterolemia--

PHILADELPHIA, Nov. 15, 2019 /PRNewswire/ --Invitae Corporation (NVTA), a leading medical genetics company, today announced Invitae Discover, a clinical research platform that leverages biometric data available through Apple Watch to provide better understanding of the genetic causes of disease. The first study on the platform will evaluate genetics in cardiovascular disease and was announced in conjunction with the American Heart Association's Scientific Sessions where researchers are presenting data on genetic screening in familial hypercholesterolemia.

Invitae's (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. http://www.invitae.com (PRNewsFoto/Invitae Corporation)

"The creation of the Invitae Discover platform will make it easier to conduct studies that assess genetic test results alongside the biometric data that is now easily available on Apple Watch, thereby joining basic electrophysiological data with genetic information in order to advance our understanding of the genetic underpinnings of disease and help improve clinical care," said Robert Nussbaum, M.D., chief medical officer of Invitae. "Our first study on the platform is designed to determine the contribution of certain genetic variants to clinical presentations of atrial fibrillation and other cardiovascular conditions associated with abnormal heart rhythms, as well as to improve the interpretation of genetic testing results."

The first study on Invitae Discover is the Afib CAUSE Study. Patients who have genetic testing through Invitae can enroll in the study via the Invitae Discover app. The study will combine health and activity data from Apple HealthKit with clinical genetic testing results. In addition to assessing known genetic variants, the study will specifically evaluate biometric data for patients whose genetic testing included variants of uncertain significance (VUS) to help build preliminary data that improves variant classification and, ultimately, provide evidence to support resolution. The Invitae Discover app is available on the Apple app store. The Afib CAUSE study is open to U.S. residents 18 years of age and older and enrollment criteria can be accessed through the Invitae Discover app.

The study will be conducted under the supervision of an Institutional Review Board (IRB). As a medical genetics company, Invitae is subject to and fully complies with the privacy and security requirements under HIPAA for all its patients.

Separately at the AHA Scientific Sessions, Invitae researchers will be participating in a moderated poster session at the AHA meeting to discuss research quantifying the low diagnostic yield of highly targeted, direct-to-consumer genetic screening strategies in familial hypercholesterolemia. The study will be presented on November 17th during the Cardiovascular Genomic Medicine session at 2:20pm.

About InvitaeInvitae Corporation (NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

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Safe Harbor StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the attributes and potential benefits of the company's clinical research platform; and the design and potential benefits of the company's first study on the platform. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo pr@invitae.com (628) 213-3283

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Correlation Found Between Left-Handedness and Genetic Markers Associated with Neurological Disease – JD Supra

Friday, November 15th, 2019

Updated: May 25, 2018:

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Correlation Found Between Left-Handedness and Genetic Markers Associated with Neurological Disease - JD Supra

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Investigative Genetic Genealogy Used to Charge Man With Murder, Rape in 1980s SoCal Killings of 2 Women – KTLA Los Angeles

Friday, November 15th, 2019

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Prosecutors have charged a man with murder and rape in the killings of two women during the 1980s, after using investigative genetic genealogy to solve the crimes, Los Angeles County District Attorney Jackie Lacey said in a news release Friday.

The charges filed Friday are the first in L.A. County to use the forensic technology, authorities said.

Thanks to advances in technology and forensics, we are now able to virtually reach back in time and find those responsible for these vicious crimes, District Attorney Lacey said.

Horace Van Vaultz Jr., 64, was charged with two counts of murder, with special circumstance allegations of multiple murders, crimes committed during a rape and sodomy, and with lying in wait for each victim, the news release said.

Van Vaultz is accused of murdering Mary Duggan, 22, on June 9, 1986. Duggan's body was found in the trunk of a car in a Burbank parking lot, authorities said. She was bound, sexually assaulted and died from asphyxia because a tissue was stuffed down her throat, according to the release.

The second murder charge is for the killing of Selena Keough, 20, on July 16, 1981. Keough was found under some bushes in Montclair in San Bernardino County. She was also bound, sexually assaulted and strangled, authorities said.

Van Vaultz faces the death penalty or life in prison with the possibility of parole if convicted of the charges, the DA's office said.

His arraignment is expected to take place on Monday.

Investigators have reached out to other law enforcement agencies to determine if Van Vaultz is responsible for other unsolved murders in the state, the release said.

With dedicated resources and rapidly advancing technology, we can unmask the cowardly murderers who have remained hidden in our community and bring justice to the grief-stricken families who have waited too long for answers, Lacey said in the release.

The case remains under investigation by the Burbank and Montclair police departments and the FBI's Forensic Genetic Genealogy Team, authorities said.

Anyone with information is asked to contact the Burbank Police Department tip line at 818-238-3086.

34.052227-118.243660

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Investigative Genetic Genealogy Used to Charge Man With Murder, Rape in 1980s SoCal Killings of 2 Women - KTLA Los Angeles

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Modern genetics will improve health and usher in designer children – The Economist

Wednesday, November 13th, 2019

SOMETIME NEXT year, if all goes to plan, a gay male couple in California will have a child. The child in question will have been conceived by in vitro fertilisation. In this case a group of eggs from a female donor are now being fertilised by sperm from both fathers (half from one, half from the other). Of the resulting embryos, the couple will choose one to be implanted in a surrogate mother. An uplifting tale of the times, then, but hardly a newsworthy event. Except that it is.

Where the story becomes newsworthy is around the word choose. For the parents, in conjunction with a firm called Genomic Prediction, will pick the lucky embryo based on a genetically estimated risk of disease. Such pre-implantation testing is already used in some places, in cases where there is a chance of parents passing on a condition, such as Tay-Sachs disease, that is caused by a single faulty gene. Genomic Prediction is, however, offering something more wide-ranging. It is screening embryos for almost 1m single-nucleotide polymorphisms (SNPs). These are places where individual genomes routinely differ from one another at the level of an individual genetic letter. Individual SNP differences between people rarely have much effect. But add them up and they can raise or lower by quite a lot the likelihood of someone suffering a particular disease. Generate several embryos and SNP-test them, then, and you can pick out those that you think will grow up to be the healthiest.

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Much fuss was made last year about a researcher in China, He Jiankui, who edited the genomes of two human embryos in order to try, he claimed, to make them immune to infection by HIV, the virus that causes AIDS. What Genomic Prediction proposes is different. No editing is involved. There is thus no risk of harming a child by putting it through a risky experimental procedure. Whether Genomic Predictions particular technique will actually deliver super-healthy children remains to be seen. The principle seems plausible, though. History may therefore look back on this moment as the true beginning of designer babies. And the tool that has made that possible is called GWAS.

GWAS stands for genome-wide association study. It is the endpoint of a historical process that began in the mid-19th century with Gregor Mendel, a Moravian abbot and amateur botanist. Mendel worked out the first set of rules of heredity. This led to the idea of a gene. And that, when allied with the discovery that the material of heredity is a chemical called DNA, which encodes genetic information in the order of its component units, known as nucleotides, led to the idea of a gene being a particular piece of DNA that carries in its nucleotides the blueprint of a particular protein. This protein goes on to contribute, in combination with environmental effects such as nutrition, to a particular bodily or behavioural characteristic, known as a phenotypic trait.

Since the 1950s, researchers have tried to quantify the relative contributions of genes and the environment to such traits. Mostly, this is in the context of disease. But behavioural characteristics, personality and cognitive ability have also been matters of interest. GWAs expands this process by looking not just at the effects of individual genes, but across the whole genomefor protein-coding genes make up only about 2% of a persons DNA.

Comparisons, over several generations of a family, of the prevalence of a particular trait yield estimates of its heritabilitya measure of how well individual genetic differences account for variations in that trait in a given population. A heritability of 100% indicates that any differences in a trait between individuals in that population are accounted for solely by genetic factors, while 0% suggests the environment alone is responsible. The phrase given population is important. Some populations may be exposed to relevant environmental variables unknown to others. Conversely, genetic factors present in one group (better response to oxygen scarcity in those evolved to live at high altitude, for example) may be absent in another.

An analysis published in 2015 of more than 2,700 studies of heritability shows that its average value, for all traits looked into in those studies, is about 50%. That includes physical traits like susceptibility to heart disease (44%) and eye disorders (71%), and mental ones, including higher-level cognitive functions (47%) such as problem-solving and abstract thought.

Other, less obvious traits are heritable, too. The amount of time a child spends watching television was assumed for many years to have a heritability close to zero. In 1990, however, a study led by Robert Plomin, now at Kings College, London, compared the habits of adopted children with those of their birth mothers. It found television-watching has a heritability of about 45%. Similar surprisingly heritable traits include a childs tendency to be bullied at school (more than 70%) or to be accident-prone (51%). Even someones likelihood of being religious (30-40%) or of getting divorced (13%) is heritable.

In 1989 James Watson, the first head of the Human Genome Project, summarised the mood of many by declaring that We used to think our fate was in our stars. Now we know, in large measure, our fate is in our genes. There was hope then that the genome project would locate those genes. No one was naive enough to think that there existed, say, such a thing as a gene for television-watching. But it was reasonable to believe that there might be a handful of genes which combined to encourage television-watching indirectly. More important, there was an expectation that the heritable causes of things like heart disease might be pinned down to such genetic handfuls. These might then be investigated as drug targets. To everyones frustration, though, few such genes revealed themselves. And in most cases the contributions they made to a conditions heritability were small. Where, then, was the missing heritability?

With hindsight, the answer was obvious. The number of variants that play a role in disease risk is far higher than Mendel-blinded researchers had imagined. Though human beings are genetically more than 99.9% alike, they have 6bn genetic letters in their genomes. This is where the SNPs are hidden, for a diversity of less than 0.1% still leaves room for millions of them. And when SNPs contributions are combined, their effects can be significant. For height, for example, the number of relevant SNPs is reckoned to be about 100,000each adding or subtracting, on average, 0.14mm to or from a persons adult stature. Furthermore, most of these SNPs are in parts of the genome that do not encode proteins at all. Rather, they regulate the activities of other genes and often have no obvious connection to the trait in question.

To be fair, it was mainly human geneticists who were captivated by the simple Mendelian model of single genes with big effects. According to Peter Visscher of the University of Queensland, Australia, many plant and animal scientists knew of traits genetic complexity long before the Human Genome Project started. But they were more interested in breeding better crops or livestock than in understanding the biology behind such complexity.

Dr Visscher was one of the first to realise that human studies would need to recruit more participants and screen for many thousands more SNPs if they were to capture in full the genetic components of most traits. In 2007 he and his colleagues used models to show that for a condition with a prevalence of 10% in the general population, approximately 10,000 volunteers are required to identify the SNPs marking the 5% of those at highest risk of developing that condition. Earlier studies, often with just a few hundred participants, had simply not been powerful enough to see what was going on. And thus was GWAS born.

Ideally, a GWAS would obtain a full sequence of the genome of every participating individual. However, even though the cost of such sequences has fallen dramatically since the completion of the genome project, to about $1,000 a shot, this would still be prohibitively expensive. Instead, researchers use devices called SNP arrays. These detect hundreds of thousands of the most common SNPs for a price of $50 or so.

A combination of SNP arrays, larger samples of volunteers and better computing methods means it is now possible to find millions of variants that contribute to a trait. An individuals score from these variants, known as his polygenic score, can then be calculated by adding up their contributions to give, for example, his risk of developing a particular disease in later life.

Another advance has been a change in the way volunteers are recruited. Institutions called biobanks have come into existence. These hold both tissue samples from, and a range of medical and other data about, large numbers of people who have agreed to make those data available to researchers who meet the criteria employed by the bank in question.

Among the largest of these repositories is the UK Biobank, in Britain. This has 500,000 depositors. One study that drew on it, published in 2018 by Sekar Kathiresan of the Massachusetts General Hospital in Boston and his colleagues, worked out polygenic risk scores for five diseases, including coronary heart disease and type 2 diabetes. By totting up scores from over 6m genetic variants, they were able to elucidate SNP patterns that identify those who are at a threefold higher risk or worse than the general British population of developing one of these diseases. For heart disease, 8% of the population are at such risk. For type 2 diabetes, 3.5%.

Nasim Mavaddat of the University of Cambridge and her colleagues have similarly calculated polygenic risk scores for breast cancer. These showed that a British womans average ten-year risk of developing breast cancer at the age of 47 (the earliest that Englands National Health Service begins screening for the disease) is 2.6%. The study also found that the 19% of women who had the highest risk scores reached this level of risk by the age of 40. Conversely, the 10% at lowest risk did not cross the threshold until they were 80.

Using these and similar studies, it is possible to draw up lifetime risk profiles for various medical conditions. A British firm called Genomics has done that for 16 diseases (see chart). This will help screening programmes to triage who they screen, by offering their services earlier to those at high risk of developing a condition early in their lives. It will also permit the dispensing of risk-appropriate advice about diet and exercise to those who need it most, and the early offering to those who might benefit from them of things like statins and antihypertensive drugs. In light of all this Englands National Health Service announced in July that 5m healthy Britons would be offered free gene tests.

A third study that drew on the UK Biobank is rather different. It was published in October and demonstrated the power of GWAS to reach beyond non-medical matters. It examined patterns of internal migration in Britain, and showed that there has been an outward migration from former coalmining areas of people with SNP patterns associated with high educational attainmentprecisely the sorts of individuals economically deprived places can least afford to lose.

Educational attainment also demonstrates how heritability varies with environment. In Norway, for example, heritability of educational attainment increased after the second world war as access to education widened. Since all children now had more or less the same opportunities at school, environmental variation was largely ironed out and the effects of genetic differences consequently exaggerated.

Both of these examples foreshadow how the sort of genetics made possible by GWAS can have political consequences. The implication of the internal-migration study is that the geographically left-behind are dimmer, on average, than the leavers. The implication of the Norwegian study might likewise be seen by some as suggesting that those who have done well at school and thus snagged the best (and best-paid) jobs are part of a genetic elite that deserves its success, rather than being the lucky winners of a genetic lottery.

And that is just within a country. Start comparing people from different parts of the world and you enter a real minefield. Because most of the genetic data now available come from populations of European ancestry, their predictive power is poorer for people from elsewhere. Alicia Martin of the Broad Institute in Massachusetts and her colleagues scored West Africans for height based on SNPs drawn from studies on European or European-derived populations. The scores predicted that West Africans should be shorter than Europeans. Actually, they are not.

As more people of non-European ancestry are sequenced, these problems may abate. But if group-based differences emerge or persist in the face of better data, that would be cause for concern. Differences between groups in things like height are rarely cause for prejudice beyond a jocular level. For something like educational attainment, by contrast, there is a risk that politically motivated groups would try to exploit any differences found to support dubious theories of racial superiority.

To some historians, this looks horribly familiar. They fear that the old spectre of eugenics risks rising in a new guise. As Nathaniel Comfort of Johns Hopkins University, in Baltimore, observes, The IQ test was invented in order to identify students who needed extra help in school. But within about a decade, it was being used as a tool to weed out the so-called feebleminded, not just from school but from the gene pool. Such fears of genetic stratification would become particularly acute if polygenic scores were applied to embryos for the purpose of selecting which to implant during IVFas Genomic Prediction is just about to do.

Genomic Prediction and a second firm, MyOme (which is not yet accepting customers), claim to be able to build up an accurate picture of an embryos genome. That is tricky because the sequencing has to be carried out using the tiny quantities of DNA in a few cells taken from that embryo. A sequence so obtained would normally be full of errors. The two companies say they can deal with this by comparing embryonic sequences with those of the biological parents. All of the DNA in the embryo has come from one or other parent, so blocks of embryonic DNA can be matched to well-established sequences from their parental progenitors and an accurate embryonic sequence established. That makes working out the embryos SNP pattern possible.

Genomic Prediction thus says it is able to offer couples undergoing IVF a polygenic risk score for each embryo for a variety of diseases including type 1 diabetes, type 2 diabetes, breast cancer, testicular cancer, prostate cancer, basal-cell carcinoma, malignant melanoma, heart attack, atrial fibrillation, coronary artery disease, hypertension and high cholesterol. At the moment it does not offer scores for non-medical traits like height or educational attainment. But there is nothing to prevent it from doing so should it so wish.

Even for medically relevant scores, however, some worry about this approach. One concern is pleiotropythe phenomenon of the same piece of DNA influencing several apparently unrelated traits. Choosing an embryo with a low risk of heart disease might accidentally give it, say, a higher chance of developing epilepsy. Single-mindedly maximising scores for positive traits like intelligence or height may therefore increase the risk of genetic disorders.

Stephen Hsu of Michigan State University, one of Genomic Predictions founders, acknowledges the theoretical risk of this, but argues that serious pleiotropic effects are unlikely. If you looked at a bunch of kids with IQs of, say, 160 or 170, he says, I doubt youd find much seriously wrong with them. Theyd just be a bunch of geeks. Dr Hsu, who in 2014 predicted that reproductive technologies would soon be used to select for more intelligent offspring, estimates that an IQ gain of between 10 and 15 points would be possible if couples were allowed to choose between ten embryos. He also thinks that further gains would probably accumulate if people selected in this way went on to select their own offspring on the basis of intelligence.

This is plausible. Before 2008, when the first SNP chips for cattle became available, the annual milk yield of dairy cows in America had been increasing at about 50kg per year. After six years of chip-based polygenic selection, the rate of increase had doubled to more than 100kg per year. This suggests the technique is powerfulin cattle at least. Despite Dr Hsus optimism, however, pleiotropism has reared its head in these animals. They have become less fertile and have weaker immune systems.

In the end, then, it is generally a good idea to remember that human beings have already been optimised by a powerful agent called natural selection. Trade-offs between different pieces of physiology, even in domestic animals, will have been forged in the crucible of evolution and will generally be optimal, or close to it. Genetic tinkering may sometimes improve things. But by no means always.

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Modern genetics will improve health and usher in designer children - The Economist

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GenomeSmart and NorthBay Healthcare Launch Pilot to Improve Access to Genetic Testing with GenomeBrain – Business Wire

Wednesday, November 13th, 2019

LOS ALTOS, Calif. & FAIRFIELD, Calif.--(BUSINESS WIRE)--GenomeSmart, a Silicon Valley-based company delivering the first and only AI-powered genetic risk assessment and test recommendation platform to improve access to genetic testing, announced today that NorthBay Healthcare, an independent nonprofit health system in Northern California, has selected the GenomeBrain Platform for a pilot program planned to improve the routine use of genetic testing in patient care.

Weve looked at many options to support our providers but the GenomeBrain Platform offered us more of the critical features we wanted plus gave us the ability to customize to our needs, said Lori Muir, Oncology Services Director. NorthBay Healthcare is dedicated to delivering best-in-class oncology care to the patients we serve and we believe ensuring easy access to genetic testing is a critical part of those vital services. Were looking forward to working with GenomeSmart to support our providers in better identifying patients for testing, efficiently tracking available tests, and speeding access to hereditary risk results.

"This approach to screening patients will make it much easier for people to understand why and when genetic testing can impact their healthcare decisions. We are bridging an educational gap that, until now, has made access to genetic testing difficult. Our patients will no longer wonder if genetic testing is right for themthey will know before they even come in to see me," added Karen Vikstrom, MS, Certified Genetic Counselor, NorthBay Healthcare.

The NorthBay Healthcare pilot program will be completed in conjunction with the NorthBay Breast Cancer Program. The pilot is designed to ensure patients with breast cancer receive treatment based on genetic risk and to scale testing into routine care for healthy women and men to identify potential hereditary risks, ensuring appropriate access to screening and care programs. The GenomeBrain Platform will be incorporated into the current patient workflow and evaluated for effectiveness and ease of use.

The GenomeBrain Platform is accessed online through a mobile phone, tablet, or desktop device. The simplified experience first builds a patient profile, including their relevant personal medical history, family medical history, ethnicity and age, and then instantly matches them to the appropriate genetic tests based on the latest medical guidelines for genetic testing. GenomeBrain uses AI to ingest large amounts of data from patient history, genetic tests available on the market, and medical guidelines to simplify a cumbersome manual process that usually takes days to less than ten minutes on average.

Were thrilled to be partnering with NorthBay Healthcare on this important initiative, said Sanjay Sathe, CEO and co-founder, GenomeSmart. The NorthBay teams agility and interest in innovative approaches to care make them the ideal partner for us. They are able to implement efforts quickly and provide personalized care to their local community that rivals many larger urban-based institutions, all for the betterment of their patients.

About GenomeSmart

GenomeSmart is on a mission to make genetic testing available to everyone. In May 2019, the company launched GenomeBrain, the first and only AI-powered genetic risk assessment and test recommendation platform that matches and identifies people who could benefit from genetic testing. The affordable GenomeBrain Platform multi-functional solution is available to help genetic counselors, physicians, hospital systems, genetic testing labs, insurance companies, and corporations improve the effective use of genetic testing to save lives, improve quality and reduce costs of healthcare.

About NorthBay Healthcare

NorthBay Healthcare opened its first hospital in 1960 and remains Solano Countys only locally based, locally managed nonprofit health system. NorthBay Medical Center in Fairfield and NorthBay VacaValley Hospital in Vacaville offer 24-hour emergency care, intensive care, and sophisticated surgical and diagnostic services. NorthBay Cancer Center, located on the Vacaville campus, opened more than 30 years ago. NorthBay Healthcare is a member of the Mayo Clinic Care Network, giving its patients access to world-renowned physicians and Mayo Clinic research.

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GenomeSmart and NorthBay Healthcare Launch Pilot to Improve Access to Genetic Testing with GenomeBrain - Business Wire

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The Russian Military Will Soon Assign Soldiers Based on Their "Genetic Passports" – The National Interest Online

Tuesday, November 12th, 2019

Key Point: the Russian military will be using genetics to assess that most unpredictable of human qualities: how a person will react in combat.

Want to be a Russian paratrooper or tank commander? Then youd better hope you have the right genes.

The Russian military will be assigning soldiers based on their genetic passports.

The project is far-reaching, scientific, fundamental, Alexander Sergeyev, the chief of Russias Academy of Sciences, told Russian news agency TASS back in the summer (English translation here). Its essence is to find such genetic predispositions among military personnel, which will allow them to be properly oriented according to military specialties.

It is a question of understanding at the genetic level who is more prone to, for example, to service in the fleet, who may be more prepared to become a paratrooper or a tankman.

Advances in medical technology are making genetic testing a common medical procedure. It is used to detect genetic diseases such as cystic fibrosis, or the risk of developing certain diseases such as colorectal cancer. Pregnant women can also choose to be tested to determine whether their baby has genetic abnormalities such as Down syndrome.

But Russian President Vladimir Putin has embraced genetics with a passion. In March, the Kremlin issued a decree that called for implementation of genetic certification of the population, taking into account the legal framework for the protection of data on the personal human genome and the formation of the genetic profile of the population. Ostensibly this is to protect Russias population against chemical and biological attack, as well as safeguard Russias genetic patrimony from Western spies and saboteurs.

It has also spurred fears that Russia is edging towards a Nazi-style eugenics program in which certain groups, such as those Russians of Slavic ancestry, will be favored.

Either way, the Russian military will be using genetics to assess that most unpredictable of human qualities: how a person will react in combat. The project involves not only the assessment of the physiological state, but also the prediction of human behavior in stressful, critical situations that are associated with the military profession, says Sergeyev, Russia's chief scientist. Resistance to stress, the ability to perform physical and mental operations under the conditions of this stress, and so onall this may be contained in a soldiers genetic passport.

It is not just soldiers who will be genetically profiled. In December 2018, another Russian scientist announced that cosmonauts will be tested. The first area is the research into the humans genetics from the viewpoint of using it in the selection [for the cosmonaut program], said Lyudmila Buravkova, deputy director of the Institute of Medical and Biological Problems at the Russian Academy of Sciences. The second area is the attempt to remedy genetic errors as much as this should be done before a flight.

To be clear, many militaries use some kind of testing, such as the U.S. militarys Armed Services Vocational Aptitude Battery (ASVAB), to determine whether someone is qualified for military service, and whether they are suitable for certain positions such as technical jobs. The U.S. military collects DNA from soldiers to identify their bodies if they are killed. The Defense Health Agency told the National Interest that the U.S. military does not use genetic testing to assign personnel.

Thats not surprising, given that genetic testing would certainly raise concerns over privacy and racial profiling. A civil rights issue that isnt likely to be a cause of furor in an authoritarian society like Russia.

The bigger question is whether an army can decide whether someone is better suited to be a pilot, a rifleman or a cook based on their genetic profile.

Michael Peck is a contributing writer for the National Interest. He can be found on Twitter and Facebook.

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The Russian Military Will Soon Assign Soldiers Based on Their "Genetic Passports" - The National Interest Online

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Scientists Measure Mouse Personality and Map Traits to Their Genetics – SciTechDaily

Tuesday, November 12th, 2019

Scientists at the Max Planck Institute of Psychiatry in Munich, Germany, together with colleagues at the Weizmann Institute of Sciencein Israel have developed a computational method to objectively measure the personality of mice living in a semi-natural, group environment.

Just like humans, every mouse is different. Some are quick to explore a new environment while others prefer to stay within the comfort of their nest. Some prefer to stay close to their cage-mates, while others prefer to be alone. These unique characteristics of an individual remain fairly stable through life and define their personality. In humans, personality can be measured using multiple-choice questionnaires to derive personality scores but how can one measure personality in animals?

Oren Forkosh and Stoyo Karamihalev, together with other colleagues collected huge amounts of data by analyzing video footage taken of groups of mice. To do this, they dyed the fur of each mouse a different color allowing them to track the groups of mice behaving undisturbed. Each video was analyzed for a repertoire of 60 behaviors, such as how close a mouse stays to other mice, if they chase one another or run away, or the time spent in the nest or eating.

Some mice are curious and explore every new hiding place. Others are more anxious and prefer to stay in their nest. Credit: MPI f. Molecular Genetics

The scientists developed a mathematical algorithm that sought stable traits that were able to discriminate individuals based on differences in behavior. This method works somewhat in the same way as personality tests in humans in which people are often assessed on five dimensions, however, it specifically searches for traits that are consistent over time. In mice, the algorithm identified four trait-like dimensions that could capture and describe the behavior of mice. To test that these traits were stable, the researchers mixed up the groups and found that while some of the behaviors had changed, the personalities of the mice were still stable. Using advanced RNA-sequencing tools and genetically modified mouse strains, the researchers were also able to show that individual differences captured in these traits corresponded to a variety of differences in gene expression in the mouse brain and could identify mice with different genetic makeup.

This method has the potential to greatly advance our knowledge beyond what is possible using the current simplified methods for assessing behavior and toward stable and consistent differences in personality. It opens up the possibility to study how personality is affected by genes, drugs, aging, etc., how it is represented and maintained by the brain, and how it contributes to mental health and disease, explains Karamihalev, together with Oren Forkosh one of the first authors of the study published in Nature Neuroscience. This is a good first step in the direction of better pre-clinical methods for assessing individual differences in behavior and physiology, says Alon Chen, the principal investigator for this study. Our hope is that such approaches will aid in the effort toward a more personalized psychiatry.

Reference: Identity domains capture individual differences from across the behavioral repertoire by Oren Forkosh, Stoyo Karamihalev, Simone Roeh, Uri Alon, Sergey Anpilov, Chadi Touma, Markus Nussbaumer, Cornelia Flachskamm, Paul M. Kaplick, Yair Shemesh and Alon Chen, 4 November 2019, Nature Neuroscience.DOI: 10.1038/s41593-019-0516-y

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Scientists Measure Mouse Personality and Map Traits to Their Genetics - SciTechDaily

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Science of the Merino day shines light on genetics – The West Australian

Tuesday, November 12th, 2019

Identifying the best genetics within a Merino flocks variation will sort out the massive difference between the top and bottom performers, according to the Australian Merino Sire Evaluation Association.

In terms of profitability, AMSEA has identified that the top 25 per cent performers of a flock would make $31 per ewe per year more than the bottom 25 per cent.

AMSEA was founded in 2000 to oversee and create policy for all sire evaluation trials in Australia, through a national committee.

Sorting the most profitable Merino genetics was the hot topic at the Department of Primary Industries and Regional Developments Science of the Merino Sheep Field Day at Katanning last Tuesday, November 29.

The event attracted 35 visitors to DPIRDs Katanning Research Facility, including woolgrower participants, researchers and industry representatives who had a first-hand glimpse of the Yardstick Merino Sire Evaluation Trial.

AMSEA executive officer Ben Swain welcomed participants to the trial, which was established in 1989 to compare the breeding performance of Merino sires by evaluating their progeny.

A consistent ewe base is joined to trial sires via an artificial insemination program, and the resulting progeny are evaluated to assess a sires breeding performance for a large number of traits, which are important to breeders and commercial producers, he said.

The results assist in the selection of sires suitable for a large range of breeding objectives.

Mr Swain said Yardstick was one of 10 active Merino sire evaluation sites located across Australia.

Yardstick works to breed sheep that are to be well-grown and structurally sound, he said.

There needs to be a balance between wool and body size in order to provide the typical dual-purpose WA Merino type.

Mr Swain said typically, when run commercially, a Merino ewes body weight would be 10 times the greasy fleece weight.

Visually, the wool should be medium length, of attractive crimp, bright and white, uniform over the body and with no evidence of fleece rot, he said.

Head and hock cover is of little importance.

Mr Swain said there were 5000 different businesses influencing ram genetics across Australia, including 1000 stud Merino breeders and 4000 commercial woolgrowers.

We estimate 22 per cent of commercial woolgrowers breed their own rams, bringing to the fore of why it is important to use Yardstick analysis as a profitability incentive, he said.

Scaddan stud Merino breeder David Vandenberghe, of Wattle Dale stud, had two sires progeny groups in the Yardstick trial at the field day.

He said through his participation in MerinoSelect and the trial, he was able to identify a 2018-drop ram which was a multiple trait leader.

From the Merinoselects animal ID website, Wattle Dale 182067 recorded 10 trait leading measurements including 14.3 YWT, 35.5 YCFW, 21.2 ACFW, -2.3 YFD, plus all six indexes including a DP+ of 212.

We will enter this ram in Yardstick and will be anxious to see how its progeny will perform in due process, Mr Vandenberghe said.

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Science of the Merino day shines light on genetics - The West Australian

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GenomeSmart and NorthBay Healthcare Launch Pilot to Improve Access to Genetic Testing with GenomeBrain – BioSpace

Tuesday, November 12th, 2019

Nov. 12, 2019 14:00 UTC

LOS ALTOS, Calif. & FAIRFIELD, Calif.--(BUSINESS WIRE)-- GenomeSmart, a Silicon Valley-based company delivering the first and only AI-powered genetic risk assessment and test recommendation platform to improve access to genetic testing, announced today that NorthBay Healthcare, an independent nonprofit health system in Northern California, has selected the GenomeBrain Platform for a pilot program planned to improve the routine use of genetic testing in patient care.

Weve looked at many options to support our providers but the GenomeBrain Platform offered us more of the critical features we wanted plus gave us the ability to customize to our needs, said Lori Muir, Oncology Services Director. NorthBay Healthcare is dedicated to delivering best-in-class oncology care to the patients we serve and we believe ensuring easy access to genetic testing is a critical part of those vital services. Were looking forward to working with GenomeSmart to support our providers in better identifying patients for testing, efficiently tracking available tests, and speeding access to hereditary risk results.

"This approach to screening patients will make it much easier for people to understand why and when genetic testing can impact their healthcare decisions. We are bridging an educational gap that, until now, has made access to genetic testing difficult. Our patients will no longer wonder if genetic testing is right for themthey will know before they even come in to see me," added Karen Vikstrom, MS, Certified Genetic Counselor, NorthBay Healthcare.

The NorthBay Healthcare pilot program will be completed in conjunction with the NorthBay Breast Cancer Program. The pilot is designed to ensure patients with breast cancer receive treatment based on genetic risk and to scale testing into routine care for healthy women and men to identify potential hereditary risks, ensuring appropriate access to screening and care programs. The GenomeBrain Platform will be incorporated into the current patient workflow and evaluated for effectiveness and ease of use.

The GenomeBrain Platform is accessed online through a mobile phone, tablet, or desktop device. The simplified experience first builds a patient profile, including their relevant personal medical history, family medical history, ethnicity and age, and then instantly matches them to the appropriate genetic tests based on the latest medical guidelines for genetic testing. GenomeBrain uses AI to ingest large amounts of data from patient history, genetic tests available on the market, and medical guidelines to simplify a cumbersome manual process that usually takes days to less than ten minutes on average.

Were thrilled to be partnering with NorthBay Healthcare on this important initiative, said Sanjay Sathe, CEO and co-founder, GenomeSmart. The NorthBay teams agility and interest in innovative approaches to care make them the ideal partner for us. They are able to implement efforts quickly and provide personalized care to their local community that rivals many larger urban-based institutions, all for the betterment of their patients.

About GenomeSmart

GenomeSmart is on a mission to make genetic testing available to everyone. In May 2019, the company launched GenomeBrain, the first and only AI-powered genetic risk assessment and test recommendation platform that matches and identifies people who could benefit from genetic testing. The affordable GenomeBrain Platform multi-functional solution is available to help genetic counselors, physicians, hospital systems, genetic testing labs, insurance companies, and corporations improve the effective use of genetic testing to save lives, improve quality and reduce costs of healthcare.

About NorthBay Healthcare

NorthBay Healthcare opened its first hospital in 1960 and remains Solano Countys only locally based, locally managed nonprofit health system. NorthBay Medical Center in Fairfield and NorthBay VacaValley Hospital in Vacaville offer 24-hour emergency care, intensive care, and sophisticated surgical and diagnostic services. NorthBay Cancer Center, located on the Vacaville campus, opened more than 30 years ago. NorthBay Healthcare is a member of the Mayo Clinic Care Network, giving its patients access to world-renowned physicians and Mayo Clinic research.

View source version on businesswire.com: https://www.businesswire.com/news/home/20191112005437/en/

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Detective granted game-changing warrant to search genetic database – The Independent

Friday, November 8th, 2019

For police officers in the US, the genetic profiles that 20 million people have uploaded to consumer DNA sites represent a tantalising resource that could be used to solve cases both new and cold.

But for years, the vast majority of the data have been off-limits to investigators.

The two largest sites, Ancestry.com and 23andMe, have long pledged to keep their users genetic information privateand a smaller one, GEDmatch, severely restricted police access to its records this year.

Sharing the full story, not just the headlines

However, a Florida detective announced at a police convention that he had obtained a warrant to penetrate GEDmatch and search its full database of nearly 1 million users. Legal experts said that this appeared to be the first time a judge had approved such a warrant, and the development could have profound implications for genetic privacy.

Thats a huge game-changer, explainedErin Murphy, a law professor at New York University. The company made a decision to keep law enforcement out, and thats been overridden by a court. Its a signal that no genetic information can be safe.

Jackdaws can identify dangerous humans from listening to each others warning calls, scientists say. The highly social birds will also remember that person if they come near their nests again, according to researchers from the University of Exeter. In the study, a person unknown to the wild jackdaws approached their nest. At the same time scientists played a recording of a warning call (threatening) or contact calls (non-threatening). The next time jackdaws saw this same person, the birds that had previously heard the warning call were defensive and returned to their nests more than twice as quickly on average.

Getty

The sex of the turtle is determined by the temperatures at which they are incubated. Warm temperatures favour females.But by wiggling around the egg, embryos can find the Goldilocks Zone which means they are able to shield themselves against extreme thermal conditions and produce a balanced sex ratio, according to the new study published in Current Biology journal

Ye et al/Current Biology

African elephant poaching rates have dropped by 60 per cent in six years, an international study has found. It is thought the decline could be associated with the ivory trade ban introduced in China in 2017.

Reuters

Scientists have identified a four-legged creature with webbed feet to be an ancestor of the whale. Fossils unearthed in Peru have led scientists to conclude that the enormous creatures that traverse the planets oceans today are descended from small hoofed ancestors that lived in south Asia 50 million years ago

A. Gennari

A scientist has stumbled upon a creature with a transient anus that appears only when it is needed, before vanishing completely. Dr Sidney Tamm of the Marine Biological Laboratory could not initially find any trace of an anus on the species. However, as the animal gets full, a pore opens up to dispose of waste

Steven G Johnson

Feared extinct, the Wallace's Giant bee has been spotted for the first time in nearly 40 years. An international team of conservationists spotted the bee, that is four times the size of a typical honeybee, on an expedition to a group of Indonesian Islands

Clay Bolt

Fossilised bones digested by crocodiles have revealed the existence of three new mammal species that roamed the Cayman Islands 300 years ago. The bones belonged to two large rodent species and a small shrew-like animal

New Mexico Museum of Natural History

Scientists at the University of Maryland have created a fabric that adapts to heat, expanding to allow more heat to escape the body when warm and compacting to retain more heat when cold

Faye Levine, University of Maryland

A study from the University of Tokyo has found that the tears of baby mice cause female mice to be less interested in the sexual advances of males

Getty

The Intergovernmental Panel on Climate Change has issued a report which projects the impact of a rise in global temperatures of 1.5 degrees Celsius and warns against a higher increase

Getty

The nobel prize for chemistry has been awarded to three chemists working with evolution. Frances Smith is being awarded the prize for her work on directing the evolution of enzymes, while Gregory Winter and George Smith take the prize for their work on phage display of peptides and antibodies

Getty/AFP

The nobel prize for physics has been awarded to three physicists working with lasers. Arthur Ashkin (L) was awarded for his "optical tweezers" which use lasers to grab particles, atoms, viruses and other living cells. Donna Strickland and Grard Mourou were jointly awarded the prize for developing chirped-pulse amplification of lasers

Reuters/AP

The Ledumahadi Mafube roamed around 200 million years ago in what is now South Africa. Recently discovered by a team of international scientists, it was the largest land animal of its time, weighing 12 tons and standing at 13 feet. In Sesotho, the South African language of the region in which the dinosaur was discovered, its name means "a giant thunderclap at dawn"

Viktor Radermacher / SWNS

Scientists have witnessed the birth of a planet for the first time ever. This spectacular image from the SPHERE instrument on ESO's Very Large Telescope is the first clear image of a planet caught in the very act of formation around the dwarf star PDS 70. The planet stands clearly out, visible as a bright point to the right of the center of the image, which is blacked out by the coronagraph mask used to block the blinding light of the central star.

ESO/A. Mller et al

Layers long thought to be dense, connective tissue are actually a series of fluid-filled compartments researchers have termed the interstitium. These compartments are found beneath the skin, as well as lining the gut, lungs, blood vessels and muscles, and join together to form a network supported by a mesh of strong, flexible proteins

Getty

Working in the Brazilian state of Mato Grosso, a team led by archaeologists at the University of Exeter unearthed hundreds of villages hidden in the depths of the rainforest. These excavations included evidence of fortifications and mysterious earthworks called geoglyphs

Jos Iriarte

More than one in 10 people were found to have traces of class A drugs on their fingers by scientists developing a new fingerprint-based drug test.Using sensitive analysis of the chemical composition of sweat, researchers were able to tell the difference between those who had been directly exposed to heroin and cocaine, and those who had encountered it indirectly.

Getty

The storm bigger than the Earth, has been swhirling for 350 years. The image's colours have been enhanced after it was sent back to Earth.

Pictures by: Tom Momary

Included in Wellcome Image Awards, this 3D image of an African grey parrot shows the highly intricate system of blood vessels.

Scott Birch. Wellcome Images

Another Wellcome Images Award winner, this time of baby Hawaiian bobtail squid. The black ink sac and light organ in the centre of the squids mantle cavity can be clearly seen.

Macroscopic Solutions. Wellcome Images

Jackdaws can identify dangerous humans from listening to each others warning calls, scientists say. The highly social birds will also remember that person if they come near their nests again, according to researchers from the University of Exeter. In the study, a person unknown to the wild jackdaws approached their nest. At the same time scientists played a recording of a warning call (threatening) or contact calls (non-threatening). The next time jackdaws saw this same person, the birds that had previously heard the warning call were defensive and returned to their nests more than twice as quickly on average.

Getty

The sex of the turtle is determined by the temperatures at which they are incubated. Warm temperatures favour females.But by wiggling around the egg, embryos can find the Goldilocks Zone which means they are able to shield themselves against extreme thermal conditions and produce a balanced sex ratio, according to the new study published in Current Biology journal

Ye et al/Current Biology

African elephant poaching rates have dropped by 60 per cent in six years, an international study has found. It is thought the decline could be associated with the ivory trade ban introduced in China in 2017.

Reuters

Scientists have identified a four-legged creature with webbed feet to be an ancestor of the whale. Fossils unearthed in Peru have led scientists to conclude that the enormous creatures that traverse the planets oceans today are descended from small hoofed ancestors that lived in south Asia 50 million years ago

A. Gennari

A scientist has stumbled upon a creature with a transient anus that appears only when it is needed, before vanishing completely. Dr Sidney Tamm of the Marine Biological Laboratory could not initially find any trace of an anus on the species. However, as the animal gets full, a pore opens up to dispose of waste

Steven G Johnson

Feared extinct, the Wallace's Giant bee has been spotted for the first time in nearly 40 years. An international team of conservationists spotted the bee, that is four times the size of a typical honeybee, on an expedition to a group of Indonesian Islands

Clay Bolt

Fossilised bones digested by crocodiles have revealed the existence of three new mammal species that roamed the Cayman Islands 300 years ago. The bones belonged to two large rodent species and a small shrew-like animal

New Mexico Museum of Natural History

Scientists at the University of Maryland have created a fabric that adapts to heat, expanding to allow more heat to escape the body when warm and compacting to retain more heat when cold

Faye Levine, University of Maryland

A study from the University of Tokyo has found that the tears of baby mice cause female mice to be less interested in the sexual advances of males

Getty

The Intergovernmental Panel on Climate Change has issued a report which projects the impact of a rise in global temperatures of 1.5 degrees Celsius and warns against a higher increase

Getty

The nobel prize for chemistry has been awarded to three chemists working with evolution. Frances Smith is being awarded the prize for her work on directing the evolution of enzymes, while Gregory Winter and George Smith take the prize for their work on phage display of peptides and antibodies

Getty/AFP

The nobel prize for physics has been awarded to three physicists working with lasers. Arthur Ashkin (L) was awarded for his "optical tweezers" which use lasers to grab particles, atoms, viruses and other living cells. Donna Strickland and Grard Mourou were jointly awarded the prize for developing chirped-pulse amplification of lasers

Reuters/AP

The Ledumahadi Mafube roamed around 200 million years ago in what is now South Africa. Recently discovered by a team of international scientists, it was the largest land animal of its time, weighing 12 tons and standing at 13 feet. In Sesotho, the South African language of the region in which the dinosaur was discovered, its name means "a giant thunderclap at dawn"

Viktor Radermacher / SWNS

Scientists have witnessed the birth of a planet for the first time ever. This spectacular image from the SPHERE instrument on ESO's Very Large Telescope is the first clear image of a planet caught in the very act of formation around the dwarf star PDS 70. The planet stands clearly out, visible as a bright point to the right of the center of the image, which is blacked out by the coronagraph mask used to block the blinding light of the central star.

ESO/A. Mller et al

Layers long thought to be dense, connective tissue are actually a series of fluid-filled compartments researchers have termed the interstitium. These compartments are found beneath the skin, as well as lining the gut, lungs, blood vessels and muscles, and join together to form a network supported by a mesh of strong, flexible proteins

Getty

Working in the Brazilian state of Mato Grosso, a team led by archaeologists at the University of Exeter unearthed hundreds of villages hidden in the depths of the rainforest. These excavations included evidence of fortifications and mysterious earthworks called geoglyphs

Jos Iriarte

More than one in 10 people were found to have traces of class A drugs on their fingers by scientists developing a new fingerprint-based drug test.Using sensitive analysis of the chemical composition of sweat, researchers were able to tell the difference between those who had been directly exposed to heroin and cocaine, and those who had encountered it indirectly.

Getty

The storm bigger than the Earth, has been swhirling for 350 years. The image's colours have been enhanced after it was sent back to Earth.

Pictures by: Tom Momary

Included in Wellcome Image Awards, this 3D image of an African grey parrot shows the highly intricate system of blood vessels.

Scott Birch. Wellcome Images

Another Wellcome Images Award winner, this time of baby Hawaiian bobtail squid. The black ink sac and light organ in the centre of the squids mantle cavity can be clearly seen.

Macroscopic Solutions. Wellcome Images

DNA policy experts said the development was likely to encourage other agencies to request similar search warrants from 23andMe, which has 10 million users, and Ancestry.com, which has 15 million.

If that comes to pass, the Florida judges decision will affect not only the users of these sites but also huge swaths of the population, including those who have never taken a DNA test. Thats because this emerging forensic technique makes it possible to identify a DNA profile even through distant family relationships.

Using public genealogy sites to crack cold cases had its breakthrough moment in April 2018, when California police used GEDmatch to identify a man they believe is the Golden State Killer, Joseph James DeAngelo.

After his arrest, dozens of law enforcement agencies around the country rushed to apply the method to their own cases. Investigators have since used genetic genealogy to identify suspects and victims in more than 70 cases of murder, sexual assault and burglary, ranging from five decades to just a few months old.

Most users of genealogy services have uploaded their genetic information in order to find relatives, learn about ancestors and get insights into their health not anticipating that police might one day search for killers and rapists in their family trees.

After a revolt by a group of prominent genealogists, GEDmatch changed its policies in May. It required law enforcement agents to identify themselves when searching its database, and it gave them access only to the profiles of users who had explicitly opted in to such queries. (As of last week, according to GEDmatch co-founder Curtis Rogers, just 185,000 of the sites 1.3 million users had opted in.)

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Like many others in law enforcement, Detective Michael Fields of the Orlando Police Department was disappointed by GEDmatchs policy shift. He had used the site last year to identify a suspect in the 2001 murder of a 25-year-old woman, a case he had spent six years trying to solve. Today, working with a forensic consulting firm, Parabon, Mr Fields is trying to solve the case of a serial rapist who assaulted a number of women decades ago.

In July, he asked a judge in the 9th Judicial Circuit Court of Florida to approve a warrant that would let him override the privacy settings of GEDmatchs users and search the sites full database of 1.2 million users.

After Judge Patricia Strowbridge agreed, the site complied within 24 hours. He said that some leads had emerged but that he had yet to make an arrest. He declined to share the warrant or say how it was worded.

Mr Fields described his methods at the International Association of Chiefs of Police conference in Chicago last week. Logan Koepke, a policy analyst at Upturn, a nonprofit in Washington that studies how technology affects social issues, was in the audience. After the talk, multiple other detectives and officers approached him asking for a copy of the warrant, Mr Koepke said.

DNA policy experts said they would closely watch public response to news of the warrant, to see if law enforcement agencies will be emboldened to go after the much larger genetic databases. I have no question in my mind that if the public isnt outraged by this, they will go to the mother lode: the 15-million person Ancestry database, Ms Murphy said. Why play in the peanuts when you can go to the big show?

Woman conceived by rape of her 13-year-old mother wants DNA test to prosecute father: Im a walking crime scene

Yaniv Erlich, chief science officer at MyHeritage, a genealogy database of around 2.5 million people, agreed. They wont stop here, he said.

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Detective granted game-changing warrant to search genetic database - The Independent

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US varsity to collaborate with AIIMS, KMC on genetics – Deccan Herald

Friday, November 8th, 2019

A top American university will expand genetic testing in India in partnership with the All India Institute of Medical Sciences in Delhi and the Kasturba Medical College in Manipal.

A $2.3 million grant from the National Institute of Health over five years will help the University of Michigan and Indian geneticists identify and confirm genetic changes that are the basis of developmental disorders.

Noting that seven out of 10 children with developmental disorders in India do not receive genetic testing, the university, in a media release on Wednesday, said the study hopes that with greater access to genetic testing, children with developmental disorders of genetic origin will be more likely to receive a molecularly confirmed diagnosis.

"An accurate molecular diagnosis can dramatically improve care management of individuals with rare developmental disorders and involved treatments," Stephanie Bielas, associate professor of human genetics at the U-M Medical School, said.

"Without a genetic diagnosis, individuals with rare disorders can incur inappropriate care and medical procedures," she said.

Advanced genetic tests like exome sequencing are often out of reach of many Indian patients because of the cost, and it often requires a multidisciplinary group of experts.

Bielas, the university said, has been working with her partners in AIIMS and Manipal, a city in the southern state of Karnataka for the last four years, building on the technological and organisational infrastructure needed to improve access to genetic testing.

During this time, they have identified sequencing partners, developed the platforms needed to analyse sequence data, and trained teams who can interpret the sequence and go back to the families with the results.

Integrating genetic counselling into the continuum of genetic testing is an important part of increasing access to genetic testing, Bielas said.

"It is only when the families understand the results of the genetic test and the risk for recurrence that the benefits of genetic testing for families and communities are realised," she said.

India is home to 1.3 billion people and represents 20 per cent of the world's population. But less than one per cent of the genomic data used for research comes from this region.

Researchers hope that uncovering this genetic diversity will provide a better understanding of the human genome and differences in the presentation of inherited developmental disorders, it said.

The researchers also want to establish an accessible database that can be shared with other scientists and institutions for research and to contribute to responsible development of genomic medicine in India and beyond, the university said.

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US varsity to collaborate with AIIMS, KMC on genetics - Deccan Herald

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Genetic testing leads woman to take steps to avoid breast cancer: Im one of the lucky ones – WITI FOX 6 Milwaukee

Friday, November 8th, 2019

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MILWAUKEE -- The earlier you catch breast cancer, the better your odds are of beating it. That is the idea behind the FOX6 initiative, Buddy Check 6.

Birthdays are a time to celebrate -- especially the big ones like turning 30 years old -- which is what Antonina Sendik was doing last month.

"I'm one of the lucky ones," Sendik said.

In fact, you might say Sendik is just starting her life.

"It's been a very emotional six months," Sendik said.

Sendik's father has had two brain tumors and was recently diagnosed with a disease called Cowden's Syndrome. It is a red flag that Sendik and her five siblings may have inherited the gene mutation that can cause a host of health problems. Doctors recommended genetic testing. They found Sendik had an 86 percent chance of developing breast cancer.

"I had no symptoms. I felt fine besides what was on the inside," Sendik said. "We started talking then about -- I'm probably going to have a double mastectomy."

Sendik learned that reality just a few months ago.

"You never think this is going to happen to you or this can't happen to me," Sendik said. "I would have loved to have blown it off. Learning that risk, I had no choice.

Sendik's doctor felt the same.

"With the genetic mutation, we knew that the risk was there," Dr. Caitlin Patten said.

"She said my job is to keep you safe -- and that's what I'm going to do," Sendik said.

With that, Sendik decided to go through with the surgery. It was a success. Post-surgery, the breast tissue that was removed was tested.

"So there were cancer cells. But it hadn't broken outside the duct -- it hadn't spread anywhere," Sendik said.

Sendik was relieved.

"She got it, it's gone, it's out of me," Sendik said.

Sendik does not need radiation or chemotherapy because the cancer is gone. She just needs to maintain a healthy lifestyle -- and keep regular appointments with her doctor.

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Genetic testing leads woman to take steps to avoid breast cancer: Im one of the lucky ones - WITI FOX 6 Milwaukee

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Surge in number of healthy patients who want genetic testing to find risk of cancer – Independent.ie

Friday, November 8th, 2019

Surge in number of healthy patients who want genetic testing to find risk of cancer

Independent.ie

Growing numbers of healthy people are on waiting lists for months to find out if they have inherited genes which leave them at a higher risk of some cancers, it emerged yesterday.

https://www.independent.ie/irish-news/health/surge-in-number-of-healthy-patients-who-want-genetic-testing-to-find-risk-of-cancer-38669341.html

https://www.independent.ie/irish-news/health/article38421846.ece/d571b/AUTOCROP/h342/ward-stock.jpg

Growing numbers of healthy people are on waiting lists for months to find out if they have inherited genes which leave them at a higher risk of some cancers, it emerged yesterday.

They are being referred for specialist screening because of their family history of certain forms of cancer.

However, they face the anxiety of delays to be seen because understaffed services in St James's Hospital in Dublin are struggling to cope.

Prof David Gallagher, a consultant in medical oncology and genetics, warned his clinic is now getting 7,800 referrals a year - around 150 a week - and this is leading to waiting lists.

He said his team expects to provide 4,000 test results this year - up from less than 500 in 2013 - but it cannot keep pace with demand.

The patients include those with a family history of particular cancers who want to know if they have inherited versions of the genes which leave them at increased risk.

The clinics are also dealing with a significant number of referrals of patients who have cancer and need to learn if they have a genetic mutation which would make them suitable for certain drug treatments.

A healthy patient who is referred today will be on a waiting list until May, said Prof Gallagher.

"A lot of the testing is urgent. We keep slots for urgent cases each week. If the testing will change the treatment of a cancer patient, we will get them in," he said.

However, it means that this pushes out the time faced by patients who need testing to show if they have a mutated gene which can increase their chance of getting cancer of the breast, ovary or prostate.

A positive result means the person with the inherited faulty versions of genes can take steps to manage and reduce their risk.

BRCA1 and BRCA2 - which actress Angelina Jolie inherited - are two of the best known examples of genes that raise a woman's risk of developing breast or ovarian cancer.

Prof Gallagher said the majority of women in Ireland who test positive for these genes still adopt a "watch and wait" approach, but there has been a rise in the numbers having preventive surgery.

These are not the only cancer risk genes, and there are many that people can now be screened for. "Five different genes cause Lynch syndrome," he pointed out.

Lynch syndrome is a genetic condition that can significantly increase the risk of developing bowel cancer, as well as cancer of the womb and ovary.

The only clinics for public patients who need genetic testing are in St James's Hospital and Crumlin Hospital.

Prof Gallagher said his service is "hugely under-staffed" and there is an urgent need for more consultant cancer geneticists and counsellors.

A new cancer geneticist will join the team from New York next year, but it will remain under huge pressure. He said there is also a need for Ireland to develop its own molecular genetics lab. Currently samples are sent abroad for testing, which adds to the delay.

Prof Gallagher will be among the speakers at a conference in St James's Hospital today. The Trinity-St James's Cancer Institute will unveil a sculpture by Chris Wilson to mark the 25th anniversary of the first time a woman was tested for the BRAC2 gene in Ireland.

Irish Independent

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Genetic testing at UVMMC aims to improve patient care – Local 22/44 News

Friday, November 8th, 2019

New testing at the University of Vermont Medical Center will help determine the role DNA plays in your health.

We want to improve peoples lives, said Dr. Debra Leonard, chair of Pathology and Laboratory Medicine at the University of Vermont Medical Center.

For the past year and a half, shes been working along with a team of physicians and specialists to develop Genomic DNA Testing.

It really is to integrate genetic information into routine medical care, she said.

Dr. Leonard said that information can be very helpful in improving outcomes for patients if they know their disease risk in advance. The testing will allow patients to learn about differences in their DNA that can make certain diseases more likely.

What we will be focusing on is diseases related to the heart and diseases related to cancer risk, Dr. Leonard said.

UVM Health Network is partnering with Invitae and LunaPBC on the project which will provide information on nearly 150 genes that are indicators for illnesses. The goal is to recognize if a patient is at risk for one of those diseases before they actually experience their first symptom, allowing doctors to intervene early and make informed decisions.

So we can use preventive strategies or close monitoring to catch the diseases earlier or even implement strategies to prevent the diseases, she said.

Right now, the testing is in its beginning phases. Last Friday, it was offered to the first patient, who agreed to have their blood drawn and sent out for testing, fully funded by the department. Over the next year, UVMMC is aiming to test 1,000 patients ages 18 and older.

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Anivive and Basepaws form new partnership to study feline genetics and diabetes – Yahoo Finance

Tuesday, November 5th, 2019

LONG BEACH, Calif., Nov. 5, 2019 /PRNewswire/ --Anivive Lifesciences, a pet pharmaceutical company, and Basepaws, a pet DNA sequencing company, have formed a new partnership to study feline genetics and diabetes. The companies are encouraging veterinarians and cat owners interested in participating to sign up on AniviveTrial.com.

Anivive and Basepaws Logos

"Participants will not only be helping advance feline diabetes research, but they will also receive a free genetic breed and health report about their cat," said Anivive's Founder and CEO, Dylan Balsz. "We are excited to work directly with cat owners to increase our understanding of diabetes. This partnership underscores how Anivive's software is accelerating the development of new pet medicines."

"Feline diabetes is a growing problem, but available treatments are expensive and rely mostly on symptom control through insulin therapy and dietary management," explained Anivive's Chief Medical Officer David Bruyette, DVM, DACVIM. "There is currently no clear understanding of the contribution of genetic factors to feline diabetes. This study offers cat owners the opportunity to take a direct role in developing genetics-based precision medicine tools aiming to improve and extend the lives of diabetic cats."

Beginning today, owners can visit AniviveTrial.com to complete a short survey about their cat's health. Anivive will mail eligible participants a free DNA collection kit. After collecting a DNA sample (a single saliva swab from their cat's mouth), owners mail the kit back with pre-paid postage. Anivive and Basepaws are covering the entire cost of the study, including the genetic test ($129 value).

"As a consumer pet health company, we focus on partnering with innovative companies like Anivive, who are leading research to advance our understanding of feline biology and improve the health management of cats around the world," said Basepaws' Chief Veterinary Officer Chris Menges, DVM, MPH.

Pet owners and their cats will help advance the development of new, targeted and potentially disease-modifying therapies, as well as genetics-based diagnostic tools for feline diabetes.

To learn more about this exciting new partnership and to join the movement to advance feline healthcare, please visit AniviveTrial.com/CatDNA.

About AniviveAnivive Lifesciences is a veterinary pharmaceutical company focused on reshaping pet healthcare by bringing together experts in software development, veterinary medicine, and clinical research to accelerate the development of novel pet therapeutics. Currently, only 15% of pet diseases and conditions have an approved veterinary treatment. We create therapeutics for the other 85%. Anivive. "Smarter for pet health."

About BasepawsBasepaws is a personalized pet health company that has developed the first consumer genetics test for cats. With a mission to improve and extend the lives of pets everywhere and help foster stronger bonds between humans and their pets, Basepaws offers pet owners insights into their cat's unique background, including detailed information about breeds, traits, health, and genetic markers for hereditary diseases. With new data from each CatKit completed, Basepaws' database continues to provide new and valuable information into genetic correlations and cat-specific diseases.

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Anivive and Basepaws form new partnership to study feline genetics and diabetes - Yahoo Finance

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Anivive, Basepaws Partner to Study Feline Genetics and Diabetes – Pet Age

Tuesday, November 5th, 2019

Press release: Anivive Lifesciences

Anivive Lifesciences, a pet pharmaceutical company, and Basepaws, a pet DNA sequencing company, have formed a new partnership to study feline genetics and diabetes. The companies are encouraging veterinarians and cat owners interested in participating to sign up online.

Participants will not only be helping advance feline diabetes research, but they will also receive a free genetic breed and health report about their cat, said Anivives founder and CEO, Dylan Balsz. We are excited to work directly with cat owners to increase our understanding of diabetes. This partnership underscores how Anivives software is accelerating the development of new pet medicines.

Feline diabetes is a growing problem, but available treatments are expensive and rely mostly on symptom control through insulin therapy and dietary management, explained Anivives chief medical officer David Bruyette, DVM, DACVIM. There is currently no clear understanding of the contribution of genetic factors to feline diabetes. This study offers cat owners the opportunity to take a direct role in developing genetics-based precision medicine tools aiming to improve and extend the lives of diabetic cats.

Beginning today, owners can visit the website to complete a short survey about their cats health. Anivive will mail eligible participants a free DNA collection kit. After collecting a DNA sample (a single saliva swab from their cats mouth), owners mail the kit back with pre-paid postage. Anivive and Basepaws are covering the entire cost of the study, including the genetic test ($129 value).

As a consumer pet health company, we focus on partnering with innovative companies like Anivive, who are leading research to advance our understanding of feline biology and improve the health management of cats around the world, said Basepaws chief veterinary officer Chris Menges, DVM, MPH.

Pet owners and their cats will help advance the development of new, targeted and potentially disease-modifying therapies, as well as genetics-based diagnostic tools for feline diabetes.

Excerpt from:
Anivive, Basepaws Partner to Study Feline Genetics and Diabetes - Pet Age

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Why Didnt She Get Alzheimers? The Answer Could Hold a Key to Fighting the Disease – The New York Times

Tuesday, November 5th, 2019

When you have delayed onset of Alzheimers by three decades, you say wow, said Dr. Bu, chairman of the neuroscience department at the Mayo Clinic in Jacksonville, Fla., who was not involved in the study.

He said the research suggests that instead of drugs attacking amyloid or tau, which have failed in many clinical trials, a medication or gene therapy targeting APOE could be promising.

Dr. Reiman, who led another newly published study showing that APOE has a bigger effect on a persons risk of getting Alzheimers than previously thought, said potential treatments could try to reduce or even silence APOE activity in the brain. People born without APOE appear to have no cognitive problems, but they do have very high cholesterol that requires treatment.

Dr. Huang, who co-wrote a commentary about the study and is affiliated with two companies focusing on potential APOE-related treatments, said the findings also challenge a leading Alzheimers theory about the role of amyloid.

Since the woman had huge amounts of amyloid but few other Alzheimers indicators, it actually illustrates, to my knowledge for the first time, a very clear dissociation of amyloid accumulation from tau pathology, neurodegeneration and even cognitive decline, he said.

Dr. Lopera said the woman is just beginning to develop dementia, and he recently disclosed her genetic profile to her four adult children, who each have only one copy of the Christchurch mutation.

The researchers are also evaluating a few other members of the Colombian family, who appear to also have some resistance to Alzheimers. They are not as old as the woman, and they do not have the Christchurch mutation, but the team hopes to find other genetic factors from studying them and examine whether those factors operate along the same or different biological pathways, Dr. Reiman said.

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Why Didnt She Get Alzheimers? The Answer Could Hold a Key to Fighting the Disease - The New York Times

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Exercise May Help Ward Off Depression, Even If You’re Genetically Prone to It – Livescience.com

Tuesday, November 5th, 2019

Getting a few hours of exercise a week may reduce the risk of depression, even in people who are genetically prone to the condition, a new study suggests.

The authors found that, although certain genes boost a person's risk of depression, increased levels of exercise essentially canceled out this genetic risk.

Overall, for every 4 hours of exercise per week (about 35 minutes per day), participants saw a 17% reduction in their chances of experiencing bouts of depression over the next two years. This protective effect of exercise held even for those at high genetic risk for depression.

Related: 7 Ways Depression Differs in Men and Women

"Our findings strongly suggest that, when it comes to depression, genes are not destiny and that being physically active has the potential to neutralize the added risk of future episodes in individuals who are genetically vulnerable," study lead author Karmel Choi, postdoctoral fellow in psychiatry at Massachusetts General Hospital, said in a statement.

The study is published today (Nov. 5) in the journal Depression and Anxiety.

Depression can run in families, which suggests that genetic factors contribute to the risk of developing the disease, according to the National Institutes of Health (NIH). Although research on the genetics of depression is in its infancy, studies suggest that multiple genes, each with a small effect, combine to increase a person's risk of the disease, according to the NIH.

In addition, previous studies have found that exercise can reduce people's risk of depression. But it wasn't clear if this benefit applied to those with certain risk factors, such as a genetic risk for depression, the authors said.

In the new study, the researchers analyzed information from nearly 8,000 participants in the Partners HealthCare Biobank, a database intended to help researchers better understand how people's genes, environment and lifestyle affect their health. Participants provided a blood sample, had their genomes analyzed and filled out a survey about their lifestyle behaviors, such as how much exercise they typically get in a week. This information was then linked with people's electronic health records (EHRs) within Partners HealthCare, a Boston-based health care system.

To be included in the new study, participants could not be currently depressed, and so the researchers excluded people who had visited a medical professional for depression within the past year. The authors then looked to see which of those remaining participants experienced a new episode of depression based on billing codes from their EHRs within the next two years.

The researchers also used genomic data to calculate a person's genetic risk for depression, and gave people a "score" based on their risk. This allowed the researchers to divide participants into three groups: those with low, intermediate and high genetic risk for depression.

The researchers found that, not surprisingly, those with a high genetic risk for depression were 50% more likely to experience a new episode of depression within the next two years, compared with those at low genetic risk.

However, across all risk groups, people who were more physically active were less likely to experience a new episode of depression. For example, among those in the high-risk group, the incidence of depression was nearly 13% for those who didn't exercise, compared with just 8% for those who exercised for about 3 hours a week.

What's more, both high-intensity exercises, such as running, and low-intensity exercises, such as yoga, were linked with a decreased risk of depression.

However, the study only found an association and cannot prove that a lack of exercise causes depression (although previous research has suggested that exercise likely helps ward off depression). In addition, the EHRs used in the study do not capture the severity of a depressive episode and do not reflect care outside of the Partners HealthCare system.

Still, the study provides "promising evidence" that doctors can use to counsel patients and "make recommendations to patients that here is something meaningful they can do to lower their risk even if they have a family history of depression," Choi said.

Of course, in addition to reducing depression risk, regular exercise has a slew of other health benefits, such as reducing people's risk of heart disease, type 2 diabetes and some cancers, according to the Centers for Disease Control and Prevention (CDC). However, less than a quarter Americans meet national exercise guidelines, according to the CDC's National Center for Health Statistics.

Originally published on Live Science.

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First-of-its-kind study reveals genetic traits determining coat colors and physical appearance in over 200 dog breeds – PRNewswire

Tuesday, November 5th, 2019

VANCOUVER, Wash., Nov. 4, 2019 /PRNewswire/ -- Wisdom Health - the world's leader in pet genetics and researchers at Purdue University today announced the most comprehensive study of dog coat color and physical trait genes ever conducted is published in PLOS ONE. The study "True Colors: commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential" found that many dog breeds carry gene variants for unexpected physical traits such as coat colors, which could randomly appear in future generations.

Thanks to the increasing popularity of at-home pet genetic testing, researchers utilized Wisdom Health's extensive database to provide insight into the physical trait variation of nearly 12,000 purebred dogs from 212 breeds, along with four wild canine species.

"As our study demonstrates, purebred dogs have so much more than meets the eye - literally. The information provided by a WISDOM PANEL dog DNA test can help us better understand the hidden elements of dog genetics," said Dr. Angela Hughes DVM PhD, veterinarian and canine genetics expert at Wisdom Health. "While our study focused primarily on purebred populations, these hidden traits can also have ramifications for mixed breed dogs. When unexpected or hidden traits are passed to mixed breed dogs from their purebred ancestors, it further complicates the already difficult task of visual breed identification making DNA tests the only reliable method of determining breed ancestry."

The study also found that the frequency of hidden gene variants in purebred dogs could provide information about the history and relatedness of certain seemingly disparate breeds - such as the Australian Shepherd and the Airedale Terrier.

"We used previously-identified genetic links between breeds to map a potential route of gene variant dispersal, such as the tailless gene variant that exists in both the Australian Shepherd and Airedale Terrier," said Dr. Kari Ekenstedt DVM PhD, assistant professor and dog genetics researcher at Purdue University's College of Veterinary Medicine. "Through genetic relationship analysis of purebred populations, we can examine the distribution of specific coat color and trait variations and help estimate a time frame for when these variations first came about. For instance, the presence of a particular allele in a wide variety of dog breeds suggests that the variant existed within domestic dogs well before pure breed development roughly 200 years ago."

Most important for future research, the study provides a baseline of trait frequency data for a given population of purebred dogs. Based on these findings, breeders can utilize DNA panel testing to identify their desired traits and avoid expression of undesirable traits in future litters.

"In many cases, the frequency of undesirable trait variants within a breed is very low. But the genetic potential to produce those traits exists, and knowing this potential can help breeders and breed organizations make informed decisions going forward," said Dr. Dayna Dreger PhD, the lead author on the PLOS ONE publication.

Wisdom Health has also simultaneously crossed another major milestone within the pet genetics industry: as of today, more than 1.5 million dogs worldwide have been tested with the WISDOM PANEL test.

"This study reveals the power of genetic testing to uncover the hidden stories of breed relationships and trait distribution across the globe," said Dr. Becca Chodroff Foran PhD, Research & Development Director at Wisdom Health. "With 1.5 million dogs tested with WISDOM PANEL and counting, our research program continues to invest in the development and discovery of actionable genetic insights to better understand and care for our beloved pets."

About the Study

About Wisdom HealthWisdom Health's mission is to facilitate responsible pet care by enhancing the well-being and relationship between pets, pet owners, breeders, shelters and veterinarians through valuable insights into pets as individuals. For more than a decade, Wisdom Health has researched and developed state-of-the-art genetic tests for companion animals, revolutionizing personalized pet care. By unlocking the secrets of their dog or cat's DNA, owners and veterinarians can work together to tailor wellness programs that fit the one-of-a-kind needs of their unique pet. For more information, visit http://www.wisdompanel.com, or follow Wisdom Panel on Facebook, Instagram and Twitter.

About KinshipAdvances in science, technology, health and nutrition offer an opportunity to transform the $100B+ pet care industry. With industry-leading data and analytics capabilities, a $100M venture fund and pioneering startup accelerator program, unique set of technology businesses like Whistle and Wisdom Health,Kinship is building the first-of-its-kind coalition of partners to transform the future of pet care. Kinship is a business division of Mars Petcare, the global leader in pet health, nutrition and services, dedicated to one purpose:A Better World for Pets. Follow @kinshipco to learn more.

About Mars PetcarePart of Mars, Incorporated, a family-owned business with more than a century of history making diverse products and offering services for people and the pets people love, the 85,000 Associates in Mars Petcare are dedicated to one purpose: A BETTER WORLD FOR PETS. With 75 years of experience, our portfolio of almost 50 brands serves the health and nutrition needs of the world's pets including brands PEDIGREE, WHISKAS, ROYAL CANIN, NUTRO, GREENIES, SHEBA, CESAR, IAMS and EUKANUBA as well as The WALTHAM Centre for Pet Nutrition which has advanced research in the nutrition and health of pets for over 50 years. Mars Petcare is also a leading veterinary health provider through a network of over 2,000 pet hospitals including BANFIELD, BLUEPEARL, PET PARTNERS, VCA, Linnaeus and AniCura. We're also active in innovation and technology for pets, with WISDOM PANEL genetic health screening and DNA testing for dogs, the WHISTLE GPS dog tracker, and LEAP VENTURE STUDIO accelerator and COMPANION FUND programs that drive innovation and disruption in the pet care industry. As a family business and guided by our principles, we are privileged with the flexibility to fight for what we believe in and we choose to fight for: A BETTER WORLD FOR PETS.

SOURCE Wisdom Health

https://www.wisdompanel.com

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Is Genetic Testing Worth the Time? – Curetoday.com

Tuesday, November 5th, 2019

Before undergoing genetic testing, stop to consider its effect on your daily experience, including your ability to get life insurance.

A few months later, my moms cancer came back. It had metastasized to her brain and eventually found a home in her bones, liver and lungs. Shortly before her death in late 2005, while we were eating lunch, my mom mentioned that she wished shed gotten more life insurance. This emotional math equation struck me as genuinely morbid. How can you attach a dollar amount to a life missed, time not spent together? What is the cost of a broken heart?

Months after my mother died, a check arrived in the mail. Now, almost 14 years later, the money is long gone. I spent it hosting holidays, on a birthday gift to myself every year for almost a decade, on gifts for my two children when they were born and on the medical bills from breast cancer screenings that my health insurance didnt cover. The last chunk went to the deductible for my preventive mastectomy in 2013. I appreciated every penny and didnt take for granted that I had a decade-long cushion allowing me to do things that would have otherwise been outside my reach. My mothers life insurance money allowed me to take the steps to secure my healthy future.

In 2008, I finally had genetic testing and learned that I didnt have the BRCA mutation. But because of other hereditary risk factors, including a family history of breast cancer, I started regular screening until I decided to pursue surgical intervention.

Over the last year, my preventive oncologist has been suggesting that I undergo expanded panel testing. In the years since my initial testing, many more genetic markers for breast cancer have been discovered. The thought of having more testing sent me into a tailspin at first. My anxious and uneasy feelings recalled the hurricane of emotions I felt when my mom died, when a routine ultrasound revealed I had a breast lump and when I faced a series of emotional choices about surgery and reconstruction. What would I do if I learned I had a mutation that predisposed me to other cancers? Would I need more surgery? What additional foreshadowing would this have for my childrens health? I simply wasnt ready to know.

Even in what can be considered a best-case scenario, in which I was able to make the choice to reduce my cancer risk through surgery, this decision required me to put my whole life on pause. I juggled the logistics of single parenthood, surgery, my job and household management pretty well, though Id be remiss to ignore the army of help I had. However, my life was still affected by many critical things that none of my doctors ever discussed.

The list of things I was unprepared for due to my preventive mastectomy is almost endless. Here are a few examples:

Not a single person suggested that I get life insurance before undergoing genetic testing, nor did it occur to me to consider how it would affect my (and my childrens) ability to get insured until I met a previvor who sells insurance, which brought the topic to the front of my mind. Now, I feel lucky that Ive been putting off a second round of testing, because the delay gives me time to explore our life insurance options.

This process, and the time Im taking to do it, has given me perspective on my experience with screening, mastectomy and reconstruction. In hindsight, I realize that I should have taken more time to ask my doctor questions and brought a friend to take notes. I should have talked with more women about their experience to help guide my choices and better inform me about my options. Now, when I meet women facing these choices, that is the advice I give.

Of course, this lesson about slowing down and being more considerate is one I can use in all areas of my life.

As a breast cancer previvor, Kristen Carbone recognizes the need to feel vital and strong in both mind and body after mastectomy. In 2016, she founded Brilliantly (brilliantly.co), a brand that provides full-spectrum solutions and support to women so they can prosper and reclaim themselves along their journey.

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