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Archive for the ‘Genetics’ Category

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

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

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

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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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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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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.

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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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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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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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Healthcast: The importance of genetic testing – KLBK | KAMC | EverythingLubbock.com

Tuesday, November 5th, 2019

LUBBOCK, Texas Family trees show where youve been.

But the family tree that genetic counselor Julie Beasley shows her patients at Joe Arrington Cancer Center shows what their future could look like.

Genetics is important for everybody no matter your gender, your race, your age, explained Beasley. Genetic testing and family history can play a vital role in healthcare for any role in any race.

She talks to people who have cancer or family history of cancer and helps them figure out if something is hereditary or can expose them to cancer in their family.

Its important to know your family history to get an idea of whats in your family but not just what they were diagnosed with but how old were they or was it a rare type of cancer, Beasley explained.

This testing can help patients get diagnosed earlier or could prevent it all together.

Interpreters are also available for people who dont speak English so they can also understand what is going on.

I think its very important because sometimes theyre scared to come in because of the diagnosis but if they dont completely understand whats going on then they may not be willing to come back, said Delia Rubio, intake coordinator at Covenant Health. This way theyre informed and they know.

Beasley hopes patients will see the importance of genetic testing and how it can benefit people in the future.

If patients know its there we can help them with managing it so they dont worry as much and they can put that behind them, said Beasley.

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Seattle Genetics and BeiGene Announce Global License Agreement for Advanced Preclinical Product Candidate – Business Wire

Tuesday, November 5th, 2019

BOTHELL, Wash. & BEIJING & CAMBRIDGE, Mass.--(BUSINESS WIRE)--Seattle Genetics, Inc. (Nasdaq: SGEN) and BeiGene, Ltd. (Nasdaq: BGNE; HKEX: 06160) today announced that the companies have entered into a license agreement for an advanced preclinical product candidate for treating cancer. The agent utilizes a proprietary Seattle Genetics antibody-based technology and is expected to advance into clinical trials in the first half of 2020.

Under the terms of the agreement, Seattle Genetics has retained rights to the product candidate in the Americas (United States, Canada and Latin American countries), Europe and Japan. BeiGene has been granted exclusive rights to develop and commercialize the product candidate in Asia (except Japan) and the rest of the world. Seattle Genetics will lead global development and BeiGene will fund and operationalize the portion of global clinical trials attributable to its territories. BeiGene will also be responsible for all clinical development and regulatory submissions specific to its territories. Seattle Genetics will receive an upfront payment and is eligible to receive progress-dependent milestones for a total deal value of up to $160 million and tiered royalties on any product sales.

Collaborating with BeiGene on this product candidate has the potential to accelerate its availability both globally and in several key geographic regions, notably China where there is an unmet medical need for anti-cancer therapies, said Roger Dansey, M.D., Chief Medical Officer at Seattle Genetics. BeiGene brings to this collaboration strong clinical and commercial capabilities and a focus on innovative, targeted oncology drugs. We look forward to working together to develop this therapy for patients worldwide.

Seattle Genetics is recognized for its transformative oncology discoveries and we are excited to collaborate on the global development of this new drug candidate. This collaboration ties closely to our mission, to bring meaningful and innovative new medicines to patients around the world, through our commitment to world-class clinical development and commercialization, said Lai Wang, Ph.D., Senior Vice President, Head of Global Research, Clinical Operation & Biometrics and APAC Clinical Development at BeiGene. The pending start of this new global trial adds a complementary molecule to our broad oncology development program, which now includes more than 60 clinical trials around the world.

About Seattle Genetics

Seattle Genetics, Inc. is an emerging multi-product, global biotechnology company that develops and commercializes transformative therapies targeting cancer to make a meaningful difference in peoples lives. ADCETRIS (brentuximab vedotin) utilizes the companys industry-leading antibody-drug conjugate (ADC) technology and is currently approved for the treatment of multiple CD30-expressing lymphomas. Beyond ADCETRIS, the company has a late-stage pipeline including enfortumab vedotin for metastatic urothelial cancer, currently being reviewed for approval by the FDA, and tisotumab vedotin in clinical trials for metastatic cervical cancer, which utilize our proprietary ADC technology. In addition, tucatinib, a small molecule tyrosine kinase inhibitor, is in late-stage development for HER2-positive metastatic breast cancer and in clinical development for metastatic colorectal cancer. We are also leveraging our expertise in empowered antibodies to build a portfolio of proprietary immuno-oncology agents in clinical trials targeting hematologic malignancies and solid tumors. The company is headquartered in Bothell, Washington, and has a European office in Switzerland. For more information on our robust pipeline, visit http://www.seattlegenetics.com and follow @SeattleGenetics on Twitter

About BeiGene

BeiGene is a global, commercial-stage, research-based biotechnology company focused on molecularly-targeted and immuno-oncology cancer therapeutics. With a team of over 3,000 employees in China, the United States, Australia and Europe, BeiGene is advancing a pipeline consisting of novel oral small molecules and monoclonal antibodies for cancer. BeiGene is also working to create combination solutions aimed to have both a meaningful and lasting impact on cancer patients. BeiGene markets ABRAXANE (nanoparticle albuminbound paclitaxel), REVLIMID (lenalidomide), and VIDAZA (azacitidine) in China under a license from Celgene Corporation.i

Seattle Genetics Forward Looking Statements

Certain of the statements made in this press release are forward looking, such as those, among others, relating to the development and commercialization of the specified product candidate and the possible financial payments from BeiGene to Seattle Genetics. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks associated with developing and commercializing novel drug candidates and that the collaboration agreement may be modified, terminated, or not provide anticipated benefits. More information about the risks and uncertainties faced by Seattle Genetics is contained under the caption Risk Factors included in the companys Quarterly Report on Form 10-Q for the quarter ended September 30, 2019 filed with the Securities and Exchange Commission. Seattle Genetics disclaims any intention or obligation to update or revise any forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.

BeiGene Forward Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995 and other federal securities laws, including statements regarding future development and potential commercialization activities of the specified product candidate under the agreement with Seattle Genetics, potential payments payable to Seattle Genetics, the speed and outcome of drug development plans, and other information that is not historical information. Actual results may differ materially from those indicated in the forward-looking statements as a result of various important factors, including BeiGene's ability to demonstrate the efficacy and safety of its drug candidates; the clinical results for its drug candidates, which may not support further development or marketing approval; actions of regulatory agencies, which may affect the initiation, timing and progress of clinical trials and marketing approval; BeiGene's ability to achieve commercial success for its marketed products and drug candidates, if approved; BeiGene's ability to obtain and maintain protection of intellectual property for its technology and drugs; BeiGene's reliance on third parties to conduct drug development, manufacturing and other services; BeiGenes limited operating history and BeiGene's ability to obtain additional funding for operations and to complete the development and commercialization of its drug candidates, as well as those risks more fully discussed in the section entitled Risk Factors in BeiGenes most recent quarterly report on Form 10-Q, as well as discussions of potential risks, uncertainties, and other important factors in BeiGene's subsequent filings with the U.S. Securities and Exchange Commission. All information in this press release is as of the date of this press release, and BeiGene undertakes no duty to update such information unless required by law.

i ABRAXANE, REVLIMID and VIDAZA are registered trademarks of Celgene Corporation.

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GPs urged to inform women about pre-pregnancy genetic testing – The Age

Tuesday, November 5th, 2019

This is concerning, the study's lead researcher Dr Ruth Leibowitz said, because GPs are the first point of call for most pregnant women and those seeking preconception medical care.

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"One theory is that GPs simply dont really know about the tests and the majority of these tests are being driven by patients requesting it," Dr Leibowitz said during a presentation of her findings at the GP19 conference in Adelaide last Friday.

When prenatal testing shows a fetus is at risk, families are faced with a profound and difficult decision on whether to keep the baby or terminate the pregnancy.

Many couples who are found to be carriers of the mutations prior to pregnancy can use IVF in conjunction with genetic testing of embryos to avoid having a child with a genetic condition.

Of the 21,172 women screened, one in 20 were carriers for at least one of the severe genetic disorders.

About 70 per cent were in the highest socio-economic quartile as measured by residential postcode. About 53 per cent were pregnant at the time of screening.

Earlier this year, the Royal Australian and New Zealand College of Obstetricians and Gynaecologists set new guidelines, recommending that all women planning a pregnancy or in their first trimester should be given information about preconception carrier screening.

But Professor Martin Delatycki, clinical director of the Victorian Clinical Genetics Services and member of the Genomics Advisory Working Group, estimates less than 10 per cent of aspiring parents are offered such screening.

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"What the results show us is that GPs are in an ideal position to offer it because they see women before they are pregnant," Professor Delatycki said.

"When women are not pregnant and they have screening, they have much more time to make a decision if theyre at high risk of having a child with one of the genetic conditions.

"It is very critical its a choice for people, not just a routine test," he said. "Because its not right for everybody.

Royal Australian College of General Practitioners president Harry Nespolon argued the onus should be on obstetricians with the expertise to discuss genetic testing with would-be parents, with many GPs choosing to refer women on to genetic counsellors.

For some patients, testing for the rare conditions went against their belief system, Dr Nespolon said.

"This is not a decision to be taken lightly because there is a lot to consider about requesting genetic screening, ultimately it can affect patients pyschologically and financially. It can affect people quite deeply and the choices they make."

Carrier screening to determine if couples carry the mutations for SMA, cystic fibrosis and fragile X is not routinely offered and many doctors do not know the tests exist.

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Professor Delatycki said recent research pointed to women having a higher chance of having a baby with one of the three genetic conditions, than there is of having a baby with Down Syndrome.

The tests can cost up to $1800 for couples and are not covered by Medicare, prompting concerns that only wealthy aspiring parents can take this precaution in a bid to avoid having a baby with a severe genetic condition.

Fragile X syndrome causes intellectual disability and behavioural and learning challenges, and is also the most common single-gene cause of autism worldwide. Spinal muscular atrophy is a severe muscle-wasting disease, while cystic fibrosis damages the lungs and digestive system.

The landmark Mackenzie's Mission trial has begun recruiting 10,000 Australian couples to be screened for 500 severe and deadly genetic conditions.

The results of the trial are expected to inform whether the federal government will introduce Medicare subsidies for carrier screening.

Melissa Cunningham is The Age's health reporter.

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New intellectual-property options help hemp breeders protect their genetics – Hemp Industry Daily

Monday, October 28th, 2019

Published 7 hours ago | By Laura Drotleff

(This is an abridged version of a story that appears in the Fall issue ofHemp Industry Magazine.)

Hemp farmers across the United States require many varieties of the plant, such as those conceived to grow in distinct climates or with certain traits desired by the end customers, among others.

To meet those needs, plant breeders constantly are striving to create hemp varieties with special traits, including disease resistance and new combinations of cannabinoids.

Thosebreeders spend years developing new varieties and enduring the tedious process ofhybridizing, growing, trialing, selecting and then doing it over and over.

That part of the breeders job has gotten easier.

Thanks to the 2018 U.S. Farm Bill, breeders now have a few options and legal recourse to protect their genetics.

Hemp Industry Magazine spoke with industry stakeholders about some of the ways hemp breeders can protect their intellectual property.

The links below will inform hemp plant breeders about:

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Researchers develop new test to diagnose the genetic cause of autism – Medical Device Network

Monday, October 28th, 2019

Murdoch Childrens Research Institute (MCRI) in collaboration with Lineagen, a Utah-based diagnostic genetic testing and clinical information services company, has developed a new test, called Methylation Specific Quantitative Melt Analysis, for the more accurate and timely diagnosis of Fragile X syndrome.

Fragile X syndrome is a common genetic cause of intellectual disability and autism spectrum disorder.

This syndrome impacts about one in 4,000 children. Approximately 90,000 Australians and over one million Americans are impacted in some way by this syndrome.

A large section of these are women who may not be affected with Fragile X, but carry a DNA premutation in their FMR1 gene, which then impacts their children.

One major problem with Fragile X is that this syndrome is not clinically identifiable at a young age. An average age of diagnosis in Australia is about five years, while in the US, it is over three years, according to the Centers for Disease Control and Prevention.

Due to delayed diagnosis, impacted children often do not receive the medical care they need in time.

MCRIs associate professor and lead researcher of this international study David Godler said: The impact of delayed diagnosis is significant and potentially preventable not only to the families but also for our health system. This is why we developed our new test, called Methylation Specific Quantitative Melt Analysis (MS-QMA). This is a one step process, to assist in more accurate and timely diagnosis of Fragile X in affected children referred for genetic testing.

This one-step process looks at the number of chemical modifications or marks, called methylation, added to a patients FMR1 gene in Fragile X, that are not usually found in typically developing children without the syndrome.

An increase in these marks cut down the production of a protein called FMRP, which is needed for healthy brain development and function.

For the first time, this study shows that the number of these marks can be increased, even in people without the usual genetic changes seen in Fragile X syndrome (called CGG repeats).

Previously, this was not known, partly as the present standard testing does not involve looking at these marks as part of the initial CGG screen.

The existing regular testing examines these marks through a second separate test, and only on the restricted number of patients suspected with the typical genetic change (CGG repeats) linked with Fragile X, called full mutation, and large permutation alleles. A reason for this is because the second methylation test is expensive.

For this trial, Lineagen and MCRI compared DNA test results of over 300 patients from paediatric clinics in the US and Australia.

As per standard testing, these patients either had Fragile X mutations or did not have mutations.

Although the second group of patients had no Fragile X mutations diagnosed by standard CGG repeat testing, they were diagnosed by doctors as having a kind of intellectual disability with/or without autism.

The genetic testing was performed in associate professor Godlers laboratory at MCRI using MS-QMA on male and female samples blinded by Lineagen.

With the lifting of the blind, all male and female patients with known Fragile X diagnosis received exact diagnosis using MS-QMA.

Godler said: We also identified, for the first time, smaller more common FMR1 alleles that are not usually tested for methylation (a tell-tale sign of Fragile X), that had abnormal methylation signatures in a significant number of affected patients.

These abnormal signatures were confirmed to be present by the current standard confirmatory methylation test performed by Lineagen. These signatures may compromise function of the FMR1 gene, and potentially lead to Fragile X like clinical features, and is an active area of research for my group.

Contribution to the findings also came from researchers of the University of Melbourne, Victorian Clinical Genetics Services, Genetics of Learning Disability in Newcastle, and The Royal Childrens Hospital.

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Myriad Genetics to Present Seven Studies at the 2019 National Society of Genetic Counselors Annual Meeting – Yahoo Finance

Monday, October 28th, 2019

SALT LAKE CITY, Oct. 28, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN), a leader in molecular diagnostics and precision medicine, today announced that it will present results from seven studies at the 2019 National Society of Genetic Counselors (NSGC) annual meeting being held Nov. 58, 2019 in Salt Lake City.

"We are excited to present new data from seven studies at this years NSGC meeting," said Susan Manley, MS, CGC, MBA, senior vice president of Medical Services at Myriad Genetics. Our presentations highlight the companys commitment to advancing precision medicine in oncology and womens health.

A list of presentations at 2019 NSGC is below. Please visit Myriad Genetics at booth #711 to learn more about our leading portfolio of precision medicine products. Follow Myriad on Twitter via @myriadgenetics and follow meeting news by using the hashtag #NSGC19.

myRisk Hereditary Cancer

Foresight Carrier Screen

Aishwarya Arjunan

PrequelTM Prenatal Screen

About Myriad myRiskHereditary CancerThe Myriad myRisk Hereditary Cancer test uses an extensive number of sophisticated technologies and proprietary algorithms to evaluate 35 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma.

About ForesightCarrier ScreenThe Myriad Foresight Carrier Screen is designed to maximize detection of at-risk couples for serious, prevalent, and clinically-actionable conditions. Foresight has a rigorous disease selection that focuses on 175+ conditions that provides meaningful information to patients. Additionally, Foresight offers superior technology with unmatched detection rates for the vast majority of genes on the panel (>99% across ethnicities) which means patients can trust both positive and negative results.

About PrequelTM Prenatal ScreenThe Myriad Prequel Prenatal Screen is a noninvasive prenatal screen that uses cell-free DNA (cfDNA) to determine if a pregnancy is at an increased risk for chromosome abnormalities, such as Down syndrome. Prequel has been shown to be superior to screening methods that use maternal age, ultrasound and serum screening. Additionally, Prequel has a lower false-positive rate and false-negative rate than these other methods. The Prequel Prenatal Screen can be ordered with the Foresight Carrier Screen and offered to all women, including those with high body mass index, and ovum donor or a twin pregnancy.

About Myriad GeneticsMyriad Genetics Inc. is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice HRD, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, Foresight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor StatementThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to data being presented for its genetic tests at the 2019 National Society of Genetic Counselors Meeting being held Nov. 58, 2019 in Salt Lake City; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

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Myriad Genetics to Present Seven Studies at the 2019 National Society of Genetic Counselors Annual Meeting - Yahoo Finance

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Genetic mutation in monkeys identified as cause of Bardet-Biedl Syndrome – Drug Target Review

Monday, October 28th, 2019

A study has revealed that in rhesus monkeys, a genetic mutation could be the cause of Bardet-Biedl Syndrome, providing a way to study the disease and develop therapies.

Researchers have discovered a genetic mutation in rhesus monkeys that leads to the rare Bardet-Biedl Syndrome (BBS). According to the team, their findings offer a promising way to develop gene and cell therapies to treat the condition in human patients.

The research was conducted at the Oregon Health & Science University (OHSU), US and offers the first known naturally occurring nonhuman primate model of the syndrome which causes vision loss, kidney dysfunction and extra fingers or toes.

their discovery could also be used to develop treatments for other retinitis pigmentosa diseases

Two related monkeys without cells critical for vision were discovered by the researchers. Examining their genomes, they found that both monkeys had a mutation in the BBS7 gene, one of at least 14 genes associated with BBS.

The team then searched a genome database of the monkeys at the Oregon National Primate Research Center at OHSU. They identified a third monkey that had the same mutation and has severe BBS symptoms.

The group are now breeding more animals with the naturally occurring BBS7 mutation, as having more animals with the mutation can enable them to develop cell and gene therapies.

There is no cure for BBS today but having a naturally occurring animal model for the condition could help us find one in the future, said the papers corresponding author, Dr Martha Neuringer, a professor of neuroscience at the Oregon National Primate Research Center at OHSU.

The researchers say that their discovery could also be used to develop treatments for other retinitis pigmentosa diseases.

The results were published in Experimental Eye Research.

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Genetic mutation in monkeys identified as cause of Bardet-Biedl Syndrome - Drug Target Review

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