Category Archives: Genetics

Genetics

Viking achieves three of top five – Riverine Herald

Viking Genetics Australia has achieved three of the top five positions for daughter-proven sires on BPI for the August run.

Reds

VIKRTOKYO cemented his number one position with a strong BPI of 291 with 75 Australian daughters on top of his 2656 international daughters.

Tokyo has exceptional production, positive fertility and a conformation ABV that any breed would be proud to own according to Viking Genetics.

VikRFaabeli and VikRFroerup are the other two shining stars in the top five line up.

Faabeli has close to 2000 international daughters in his proof.

He will breed a smaller robust cow with nice udders and good production, perfect for intensive grazing systems according to Viking Genetics.

Froerup is a new sire with one of the highest NTM (Nordic Total Merit) proofs ever achieved as a proven sire.

Holsteins

Viking Australia said there were several sires to keep an eye on coming through the ABV system, one being VIKHSPARKY.

Sparky is the highest ranked daughter fertility sire (117) with milking daughters that is A2A2.

He has more than 4000 international daughters in his proof.

Viking Genetics said Sparkys udders and teat length were a feature, but what you could not see on his Australian proof was his amazing daughter resistance to the biggest foot issues in Australia, white line separation and sole haemorrhage.

Watch VIkHRomello and VikHBooth as well, because they have increasing proofs here on top of their Viking proofs.

Milking daughters in Australia are proving popular with Booth transmitting high milk yields to nice medium-size heifers with lovely udders and temperament.

Romello daughters are stylish with strong front ends, lovely udders, excellent daughter fertility and good lactation persistency (NTM proofs).

Jerseys

VikJQuintana is emerging through the BPI system as his daughters are coming into production in Australia.

Reports of high classifying daughters with nice stature and chest, udder depth and teat length are becoming common place.

It is early days with 27 daughters in 10 herds here in Australia on top of his 1065 daughters in Denmark, but just these few have almost doubled his BPI score from the April run.

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Viking achieves three of top five - Riverine Herald

Genetics

Original New Guinea Singing Dogs Still Exist in the Wild, Study Shows | Biology, Genetics – Sci-News.com

The founding population of the New Guinea singing dog, a small-to-medium-sized canid thought to be extinct in the wild since the 1970s, is not, in fact, extinct, according to an analysis of the nuclear genomes from a dog population discovered during a recent expedition to the New Guinea highlands.

Lady Foot, a Highland wild dog native to New Guinea. Image credit: New Guinea Highland Wild Dog Foundation.

The New Guinea singing dog was first described in 1897, and became known for its unique and characteristic vocalization, described as a wolf howl with overtones of whale song.

Originally classified as a distinct species, Canis hallstromi, its taxonomy remains controversial in part due to the availability of only captive specimens for genetic analysis and debate regarding their origin.

Though genetically similar to the Australian dingo, it represents a distinct population, as evidenced by both morphology and behavior.

Only 200-300 captive singing dogs exist in conservation centers, with none seen in the wild since the 1970s.

The New Guinea singing dog that we know of today is a breed that was basically created by people, said senior author Dr. Elaine Ostrander, a researcher in the National Human Genome Research Institute, part of the National Institutes of Health.

Eight were brought to the United States from the Highlands of New Guinea and bred with each other to create this group.

Two of three Highland wild dog puppies previously spotted via a trail camera. Image credit: New Guinea Highland Wild Dog Foundation.

Another New Guinea dog breed found in the wild, called the Highland wild dog, has a strikingly similar physical appearance to the New Guinea singing dogs.

Considered to be the rarest and most ancient dog-like animal in existence, it is even older than the New Guinea singing dogs.

In 2016, an expedition led by the New Guinea Highland Wild Dog Foundation in collaboration with the University of Papua reported the existence of 15 wild dogs on the western side of the island near the open-cut Grasberg Mine, the largest gold mine in the world.

A subsequent 2018 field study led to the collection of blood samples from three individuals in their natural environment, as well as demographic, morphologic, and behavioral data.

Initially we were searching for a dog that didnt want to be found, said James Mac McIntyre, a zoologist and the director of field research at the New Guinea Highland Wild Dog Foundation.

The Highland wild dogs are shy and reclusive. They reside in the rough rocky terrain above the tree line. We spent long days in thin air and often cold rainy conditions.

The wild dogs nuclear genome confirmed that the Highland wild dogs are the original New Guinea singing dogs.

Detailed DNA testing confirmed that the Highland wild dog is a direct ancestor of the New Guinea singing dog, said co-author Dr. Kylie Cairns, a conservation biologist in the Centre for Ecosystem Science at the University of New South Wales.

Both canids are close genetic relatives to the Australian dingo forming their own lineage unlike any other in the world.

We found that New Guinea singing dogs and the Highland wild dogs have very similar genome sequences, much closer to each other than to any other canid known, said co-author Dr. Heidi Parker, a staff scientist in the National Human Genome Research Institute.

In the tree of life, this makes them much more related to each other than modern breeds such as German shepherd or bassett hound.

The evidence of wild populations is welcome news to conservationists, who hope to diversify the gene pool of the captive population.

Many had feared the population was extinct, or heavily mixed with domestic dogs, Dr. Cairns said.

Now that we know there is a wild population, programs can help diversify and conserve the captive population.

The results were published in the Proceedings of the National Academy of Sciences.

_____

Suriani Surbakti et al. New Guinea highland wild dogs are the original New Guinea singing dogs. PNAS, published online August 31, 2020; doi: 10.1073/pnas.2007242117

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Genetics

According to Latest Report on Human Genetics Market to Grow with an Impressive CAGR – Owned

Latest Research Report: Human Genetics industry

This has brought along several changes in This report also covers the impact of COVID-19 on the global market.

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Human Genetics Market competition by top manufacturers as follow: QIAGEN, Illumina, Agilent Technologies, GE, Thermo Fisher Scientific, LabCorp, Promega

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The Type Coverage in the Market are:

CytogeneticsPrenatal GeneticsMolecular GeneticsSymptom Genetics

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Research CenterHospitalForensic Laboratories

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Human Genetics is the arena of accounting worried with the summary, analysis and reporting of financial dealings pertaining to a business. This includes the training of financial statements available for public ingesting. The service involves brief, studying, checking and reporting of the financial contacts to tax collection activities and objects. It also involves checking and making financial declarations, scheming accounting systems, emerging finances and accounting advisory.

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Market segment by Regions/Countries, this report coversNorth AmericaEuropeChinaRest of Asia PacificCentral & South AmericaMiddle East & Africa

Report Highlights: Detailed overview of parent market Changing market dynamics in the industry In-depth market segmentation Historical, current and projected market size in terms of volume and value Recent industry trends and developments Competitive landscape Strategies of key players and products offered Potential and niche segments, geographical regions exhibiting promising growth A neutral perspective on market performance Must-have information for market players to sustain and enhance their market footprint

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According to Latest Report on Human Genetics Market to Grow with an Impressive CAGR - Owned

Genetics

Teen who was told he would never sit an exam prepares to start genetics course at UCD – Irish Examiner

A teenager with autism who was told he was unlikely to ever sit a state exam has been offered a college place to study genetics.

He is determined to find out why his parents - who don't have autism - had four children on the spectrum.

Tristan Lennon from Mornington, Co Meath is getting ready to take his place at University College Dublin (UCD) after securing the extra points he needed through a post leaving certificate course (PLC). The 18-year-old student is encouraging people to take a PLC course, even if they receive the points they need for their preferred course, as he said it gives you the grounding you need for college life.

Tristan's mum Carol was told before his Junior Certificate that it was unlikely that he would ever sit a state exam. She fought to get the additional resources he needed to have the same chance as any other pupil.

"He needed one-on-one help in a lot of subjects so we were told he wasn't expected to sit any state exams due to his needs but I insisted and persisted and, just two days before the Junior Certificate, he was given all he needed as emergency measures," she said.

"And he did really well.

"Again, before the Leaving Certificate, we were told there was no resource accommodation available and again I pulled out all the stops to get it for him."

Tristan, now 18, missed out on the points he needed to get straight into his course but did a PLC, receiving ten distinctions and enough extra merits to get his place in the genetics course in UCD through the CAO round zero.

Tristan was one of 4,411 applicants to receive 5,432 offers for third-level places through the CAO round zero in early August.

Those who fall into the round zero category include graduate entry medicine applicants, additional mature applicants, deferred and access applicants, as well as those presenting QQI FET/FETAC qualifications for courses with a quota for such applicants.

"He has come a long way. We didn't think he would get on the train independently to go to his work experience in Dublin as part of the course but he did and he even stood up to a gang who assaulted him on his first journey," his proud mum said.

Four of Carol's five children have been diagnosed with autism. She has fought hard for extra services for her children over the years.

I've learned that you have to fight and fight hard to be heard when you have a child with autism in Ireland.

"And I'm very proud of where my children are today because of any supports and resources that I've fought for to help them to get the chance they deserve in life."

Tristan has encouraged everyone to consider a PLC course, even if they get the points they need for their preferred couse.

"The PLC gave me a grounding of how college worked and taught me how to commute independently and how to start independently learning," he said.

"Now I'm ready to concentrate solely on my course. My current interest is in genetics and I would like to research if there is a concrete link between the make-up of genes and disabilities.

"I'd love to find out why my parents, who don't have autism, had four out of five children with autism."

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Teen who was told he would never sit an exam prepares to start genetics course at UCD - Irish Examiner

Genetics

Coming Home to the Klamath – Hakai Magazine

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Four aging dams on the Klamath River are coming down. Their completion between 1921 and 1964 brought hydroelectric power to Northern California. It also blocked hundreds of kilometers of fish habitat, causing chinook salmon to effectively disappear from the upper river basin. But the removal of dams is no guarantee the fish will return, so a team of wildlife researchers hopes it can coax the fish to repopulate the river by exploiting a new discovery about salmon genetics.

The Klamath was once the third-largest salmon-producing river in the United States, and its fish are still prized by Indigenous tribes that live along its winding path. In the Klamath, as in many other rivers, chinook salmon come in two main types: spring-run and fall-run. Spring-run fish start their migration from the rivers estuary four to six months before their fall-run cousins, and their return spawning run takes them farther up the river. Over time, however, human activities including mining, agriculture, and dam construction all but swept spring-run fish from the upper Klamath. Today, only the fall run of chinook salmon is large enough to support fishing.

Though dam removal has yet to beginthat wont come for at least another yearJohn Carlos Garza and Anne Beulke are already investigating how to replenish spring-run chinook in the upper reaches of the Klamath River Basin. Garza is a geneticist with the US National Oceanic and Atmospheric Administrations Southwest Fisheries Science Center and a researcher at the University of California, Santa Cruz, where Beulke is pursuing doctoral studies. Their research was motivated by a mystery of salmon behavior.

People have long recognized spring- and fall-run patterns, but scientists couldnt actually explain what caused this distinction. We found these curious patterns again and again, Garza says, even though they were the same type of salmon. Once they acquired the technology to quickly sequence fish DNA, however, the scientists started analyzing the genes of salmon that spawned at different times. We found a single region in the genome thats responsible for the difference between early- and late-migrating fish, Garza says. This led them to wonder whether they could re-create the missing spring-run salmon by crossing fall-run salmon with those that have the early-migration gene.

Garza and Beulke are now preparing to apply their discovery. They plan to crossbreed and release hatchery-raised spring-run chinook from the nearby Trinity River with fall-run chinook from the Klamath. When the fish return to the hatchery once more to spawn, theyll crossbreed them again with more fish from the Klamath. With every generation, youll get fish with a higher percentage of their ancestry from the Klamath River, he says.

Ideally, Garza and Beulke should begin their project this September to take advantage of the 2020 spawning season. Their work was scheduled to start in March, but stakeholder agencies have been slow to agree. The current pandemic may influence their schedule, too. I cant even get into the lab right now, Beulke says.

Although other plans have proposed reintroducing spring-run fish from nearby rivers, Garzas method has the advantage of preserving the evolutionary history of the Klamath River fish. During his analyses, Garza noticed that some fall-run salmon included genetic descendants of the Klamaths earlier spring-run fish. Crossing spring- and fall-run fish from within the river, then, would enable new spring-run generations to also preserve the adaptive genetic patterns of their Klamath ancestors.

At this point, I like Carloss approach, says Kathleen OMalley, a geneticist at Oregon State University. Its a great opportunity to test the connections between a genomic region and run timing. There are a lot of variables, she adds, but its certainly a worthwhile project. It may take more years than anticipated, though, to actually get enough data points.

Garza is comfortable taking the long view. This is a process that occurs naturally, he says. Were just accelerating things. Within 10 years, we could have thriving spring-run chinook salmon populations.

After all, the dams have been up for 100 years.

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Coming Home to the Klamath - Hakai Magazine

Genetics

New Guinea singing dogs, renowned for their ethereal howls, are no longer believed to be extinct – Salon

Human activity on Earth has led to a surge in extinctions,which is what makes it so excitingthat the New Guinea Singing Dog, which scientists have thought for decades only survived in captivity, may still survive in the wild after all. The singing dogs, which can breed with domesticated dogs and are closely related to Dingos,are beloved for their ethereal, choral howls.

The study, which was published Monday in Proceedings of the National Academy of Sciences, analyzed the genetic material of a population of canids known as highland wild dogs that were discovered in the New Guinea highlands. These dogs howled in ways that sounded an awful lot like the New Guinea Singing Dogs of the past, even though the species has not been seen outside of inbred zoo populations and the occasional exotic pet collection since the 1950s. Scientists became intrigued in 2012 after an ecotourism guide photographed an animal that looked like a New Guinea Singing Dog and, by 2018, a researcher was able to collect DNA samples from three specimens (two temporarily trapped dogs and a third one that had died).

The DNA results came back,and provided scientists with good news: These were not ordinary village dogs that had wandered away from their homes, but were direct relatives ofNew Guinea Singing Dogs. To be exact, the wild dogsshared a 72 percent genetic similarity with New Guinea Singing Dogs that are held in captivity and that genetic diversity among the wild dogs is probably a good thing, since all of the captive dogs are descended from seven or eight wild ancestors.

This news has major implications for how scientists and the general public can understand dogs.

"These dogs form a group with Dingos that appear to have separated from the ancestors of the average breed dog long before breeds were created," Dr. Heidi G. Parker, a co-author of the study who works at the Dog Genome Project for the National Human Genome Research Institute at the National Institutes of Health, told Salon by email. "They may represent one of the earliest forms of dogs."

She added that our new information about New Guinea Singing Dogs may shed new light on the domesticated dog breeds that so many people know and love.

"Studying this group of dogs may help us establish a timeline for the development of the modern breed types that are so popular now," Parker explained. "Not when the breeds were created by when the modern types of dogs became abundant."

Parker expressed cautious hope that the New Guinea Singing Dogs could be revived.

"We don't know enough right now about the size of the remaining population and how diverse it is. We hope that this will increase interest in these dogs and in preserving them," Parker told Salon.

Salon also spoke with James McIntyre,director and director of field research at New Guinea Highland Wild Dog Foundation, who conducted all of the field research involved in the study. He explained that New Guinea Singing Dogs are very different from the domesticated variety to which so many of us have grown accustomed.

"if you looked at it from a relative distance, you would say, 'Oh, that's a dog,' but if you were to get a little bit closer, there's something very unique about it," McIntyre told Salon. "And you would probably ask somebody, 'Hey, what kind of dog is that?' Because there is something that is unique to them that you don't see and haven't seen. And a lot of it is the way their eyes are set and all that these dogs are extremely intelligent, athletic, flexible. They have a very strong predatory urge."

After noting that it takes a "special kind of person" to keep one of these dogs in their home, McIntyre elaborated that "they don't come when they're called. And like I said, they're very predatory, so you don't want to have a little Shih Tzu or your cat out when this dog gets out. It's just their nature. They're highly predatory. They're more cat-like in their intelligence and disposition than they are like a dog, and in their athletic ability they're almost somewhere between a monkey and a cat then they would be a dog. They're extremely agile."

Study co-author Dr.Elaine Ostrander told Salon that scientists had believed that the dogs were extinct in the wild for half a century.

"So the punchline is that people thought New Guinea Singing Dogs were extinct in the wild and this study shows that they, in fact, are not," Ostrander, an American geneticist at the National Human Genome Research Institute of the National Institutes of Health, told Salon by email. "This changes what we thought about dogs. We know that New Guinea Singing Dogs have not been seen in the wild for over 50 years. The only ones that we knew existed are in conservation centers and are derived from very small numbers of founders many decades ago. Those dogs are losing genetic diversity."

Ostrander said the discovery of a wild population gives hope that the species can be prevented from suffering a genetic bottleneck, both in the wild and in captivity. "The discovery that the Highland Wild Dogs are the original New Guinea Singing Dog give us hope that we can restore the breed/species to its previous genetic status and diversity," Ostrander said.

There have been other intriguing studies of canid genetics to come out in 2020.A study in Junepublished in the journal Proceedings of the Royal Society B revealed that London foxes could be unintentionally self-domesticating because of their close proximity to human beings. The physical signs included urban foxes having wider snout tips and smaller brain cases. Later that same month, a studypublished in the journal Science found that sled dogs like Alaskan Malamutes, Siberian Huskies and Greenland sledgedogs are genetically connected to an Arctic dog from roughly9,500 years ago. This more than tripled the length of time that scientists believed sled dogs had been around.

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New Guinea singing dogs, renowned for their ethereal howls, are no longer believed to be extinct - Salon

Genetics

Global Preimplantation Genetics Diagnosis Market to Flourish With An Impressive CAGR by 2020-2027 Know The Latest Covid19 Impact Analysis – Bulletin…

Reportspedia announces a new report titled GlobalPreimplantation Genetics Diagnosis Market, which outlines the rationale standpoint of the unpretentious forces of the market. It announces the addition of another new dimension to this industry explaining the performance of the major players. The Preimplantation Genetics Diagnosis Market has also been segmented on the basis of the provincial players, out of which some are well established while some have newly entered the global market. These players have established actions such as research and development, determined to bring in new services that can efficiently compete with the other established players.

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Reproductive Genetics InnovationsReprogeneticsLaboratory Corporation of America HoldingsIlluminaPerkinElmerQuest Diagnostics IncorporatedGenesis GeneticsNateraGenea Limited

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Chromosomal AbnormalitiesGender SelectionX-Linked DiseasesAneuploidySingle Gene DisordersOthers

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HospitalsClinicsOthers

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Some Points from Table of Contents

Global Preimplantation Genetics Diagnosis Market Insight and Forecast to 2027

Chapter 1Preimplantation Genetics Diagnosis Market Report Overview

Chapter 2Global Growth Trends

Chapter 3Market Competition by Manufacturers

Chapter 4Preimplantation Genetics Diagnosis by Regions

Chapter 5Preimplantation Genetics Diagnosis by Region

Chapter 6Preimplantation Genetics Diagnosis Market by Type (2020-2027)

Chapter 7Preimplantation Genetics Diagnosis Market by Application (2020-2027)

strong>Chapter 8Company Profiles and Key Figures in Preimplantation Genetics Diagnosis Business

Chapter 9Production and Supply Forecast

Chapter 10 Marketing Channel, Distributors, and Customers

Chapter 11 Industry Trends and Advanced Strategy

Chapter 12Conclusions

Chapter 13Appendix

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Genetics

Genetics start-up continues COVID-19 testing as DPH probes testing errors, including some in Fall River, Taunton – Taunton Daily Gazette

A Boston consumer genetics company that has batted away former employees accusations of shoddy practices since at least 2019 is now under investigation by the state Department of Public Health for logging hundreds of false positive coronavirus test results, including some in Fall River and Taunton.

The company, Orig3n, has halted COVID-19 testing in the state. A company spokesman said the false positives were due to human error in processing the tests.

In August, after learning about the Massachusetts investigation, North Carolina issued a stop order for its coronavirus testing contract with the company, Orig3n.

The consumer genetics start-up, which claims it can tell customers what kind of foods they should eat and whether theyre predisposed to intelligence based on their DNA, has secured some of the biggest coronavirus testing contracts in the country.

According to an Orig3n spokesman, the company continues to offer COVID-19 testing elsewhere in the U.S.

So far, the Massachusetts DPH has found Orig3n sent out more than 300 COVID-19 tests wrongly classified as positive in Massachusetts, a number that could increase as DPH staff continue investigating. Orig3n claims the company isnt aware of any additional false positives. According to a Harvard epidemiologist and lab director, false negatives are far more difficult to discover, because most tests come back as negative.

Ted Owens, CEO at North Hills Pines Edge skilled nursing facility in Needham, one of roughly 60 long-term care facilities that used Orig3n test services, said in an Aug. 11 bulletin to residents and staff that Orig3n returned a total of 19 false positives to the nursing home.

The numbers didnt seem credible to Owens, but Pines Edge began immediately to take actions based on the working assumption that we needed to treat these results as correct.

It turned out that several other skilled nursing facilities also showed an unusual spike in positive cases last week, and oddly enough, all these facilities had used the same testing vendor, Owens continued. This caught the attention of the epidemiologists at Mass DPH, who intervened and instructed the vendor to re-test the samples.

Upon retesting, all of the positive tests were found to be negative.

The spike in cases -- which turned out to be false positives -- caused a panic in Needham. They came as the school district made plans to return to in-person learning, and a public health nurse for the town was asked to appear before its Select Board.

Needham Public Health Nurse Tiffany Zike told the Board on Aug. 18 that a number of coronavirus cases reported in July were considered false cases that were revoked due to the lab having an issue.

A $25,000 wire transfer

In early May, nursing homes across Massachusetts were looking for a miracle.

The Massachusetts DPH had ordered long-term care facilities coping with severe coronavirus outbreaks to test 90% of residents and staff for COVID-19 by May 25 in order to qualify for a portion of the $130 million in relief funding offered by the state.

Many nursing homes struggled to meet the deadline because of a shortage of COVID-19 tests. The National Guard was testing nursing home residents and staff on behalf of the state, but demand was high.

When Ron Doty got a memo from the Massachusetts Senior Care Association on May 6 offering Orig3n as a turnkey mobile testing option, he immediately reached out to the company.

Doty, administrator at Marlborough Hills Rehabilitation & Health Care Center in Marlborough, wired $25,000 to Orig3n. The next day, he received 250 COVID-19 test kits from the company.

Two months later, Orig3n was asked to suspend COVID-19 testing in Massachusetts, which it did on Aug. 8. Staff at the Massachusetts DPH noticed the lab was reporting an unusually high rate of positive tests, prompting the agency to investigate, according to a DPH spokesperson.

The state DPH declined to identify which nursing homes used Orig3ns testing services, citing the ongoing investigation.

Tony Plohoros, Orig3ns spokesman, said the lab is now working with state health officials to correct problems in its Boston lab, which has ceased processing coronavirus samples but continues to process consumer genetic profiles.

While it remains unclear if the federal government has taken action to halt use of Orig3ns COVID-19 testing services in other parts of the country, as North Carolina did, concerns about Orig3n hadnt yet reached a health care supply company in Ohio as of this week. That company, Link-age Solutions, is still working with Orig3n to provide coronavirus tests to long-term care facilities nationwide.

Patrick Schwartz, a spokesman for Link-age Solutions, said Thursday the company was unaware Orig3n was asked to cease coronavirus testing in Massachusetts.

One of the highest accuracy ratings in the market

Orig3n received an emergency authorization to conduct COVID-19 testing from the Food & Drug Administration in April.

The same month, the company received a federal Paycheck Protection Program loan valued between $350,000 and $1 million from Silicon Valley Bank, according to U.S. Treasury data.

Since getting the FDA approval, Orig3n has provided testing services to The New England Power Generators Association, Bostons homeless population, a boarding school in Virginia, and other public and private entities.

In late June, Link-age Solutions, a Mason, Ohio-based company that helps long-term care facilities nationwide obtain supplies ranging from pharmaceuticals to office supplies issued a press release touting Orig3ns breakthrough testing method as having one of the highest accuracy ratings in the market.

In partnering with Orig3n, Link-age could offer in-demand coronavirus tests to its members at a reduced cost, according to the press release. Results would be returned less than 36 hours after specimens arrived at the lab, the release said.

The lab boasts output capabilities of 6,000 and up to 12,000 tests per day, and will offer billing to Medicare where appropriate, the press release stated. Reporters questions to the Centers for Medicare & Medicaid Services have gone unanswered.

Schwartz, the Link-age spokeman, said Thursday his company continues to offer COVID-19 testing services performed by Orig3n, and that feedback about Orig3ns tests from its customers has been positive.

Company flagged in the past

Orig3n lists its office location as the third floor of 27 Drydock Ave. in the heart of Bostons Seaport. Until August, thats where the company processed its coronavirus tests.

Before it got into the coronavirus business, Orig3n billed itself as a consumer genetics pioneer, carving a path toward a future of wellness and health through the use of diagnostics, genetics and biotechnology.

The company, founded in 2014, offers tests ranging in cost from $29 to $298 that are supposed to help people learn what kinds of food, exercise and beauty products would work best for their genetic profiles, and even whether they are genetically predisposed to so-called superhero traits including intelligence and strength, according to Bloomberg Businessweek.

A former Orig3n employee who spoke to Gannett New England reporters on the condition of anonymity because of a nondisclosure agreement with the company said the number one complaint received by customer service was genetic profile tests not being returned to customers. The employee, who left the company pre-pandemic, didnt think the company could handle both genetic profile testing and coronavirus testing.

Unless things drastically changed since I have left, not even testing, just bandwidth-wise, they were already kind of drowning when I left, the employee said.

Despite its start-up status, Orig3n quickly gained prominence partly through securing big-name partnerships, including one with the NFLs Baltimore Ravens.

In September 2017, the Ravens linked up with Orig3n for an event called DNA Day. Roughly 70,000 Ravens fans were set to pour into the teams stadium, where they could have picked up a free genetic testing kit.

The event never happened. The Ravens postponed it days before federal health officials told The Baltimore Sun they were, working to determine whether any of the testing being offered by Orig3n is subject to the requirements of the Clinical Laboratory Improvement Amendments of 1988.

The federal regulatory standards apply to labs testing human samples in the United States, and are intended to ensure accuracy, effectiveness and reliability.

About a year after DNA Day was scrapped, 17 former Orig3n employees criticized the company in Bloomberg Businessweek, alleging it, habitually cut corners, tampered with or fabricated results, and failed to meet basic scientific standards.

Marketing, not science, the employees said, was the companys priority.

Press releases put out by Orig3n throughout the pandemic show the company was eager to publicize contracts with respected institutions, both public and private.

On May 12, the company announced what it called a comprehensive solution to enable COVID-19 testing for Massachusetts nursing home residents.

In the press release, the company said it sought to become the partner of choice for coordinating and providing COVID-19 testing for defined populations beyond long-term care residents and employees, including private employers, schools, government agencies, and cities and states.

The nursing home program is one of many applications for Orig3ns fully-integrated solution, the press release said.

What went wrong?

Doty, the Marlborough nursing home administrator, would not have known about Orig3n if not for the May 6 memo from Massachusetts Senior Care Association, an organization many nursing homes relied on during the viruss spring surge in the state to interpret complex and shifting guidance from the DPH.

Massachusetts Senior Care Association President Tara Gregorio said in a statement that her organization essentially serves as a messenger for its members, and that it relies on governmental agencies to vet labs like Orig3n.

Throughout the pandemic, MSCA has passed along lists of government approved COVID-19 PCR testing labs options available to our members, Gregorio wrote. We must rely, as all providers do, on the licensing process to ensure legitimacy and accuracy of these labs.

The FDA, which gave Orig3n emergency authorization to conduct coronavirus testing last spring, has not yet responded to Gannett New England reporters seeking comment.

According to a Massachusetts DPH spokesman, Orig3n told the agency after it was contacted by DPH that errors in testing occurred because of a broken vial or contaminated plate during final processing, an explanation DPH investigators are now trying to confirm.

In an email to Gannett New England reporters on Friday, Plohoros, Orig3ns spokesman, said, human error at the beginning of the laboratory testing process caused a pre-extraction reagent that was used in the affected batch tests to become contaminated.

In an Aug. 18 press conference, Massachusetts Secretary of Health and Human Services Marylou Sudders said erroneous results from Orig3n affected the number of COVID-19 cases reported in Fall River and Taunton.

The positive test rates for that three-day period for that one lab just seemed high, and so (we) went back, and the lab stopped processing, theyre still not processing any tests, Sudders said, adding that DPH staff was analyzing tests processed prior to the discovery to make sure the issue was, as Orig3n told the DPH, a one-time problem rather than a more structural issue.

Dr. Michael Mina is an assistant professor of epidemiology at Harvard T. H. Chan School of Public Health who has experience running laboratories that perform PCR testing.

Mina says a lab that processes 6,000 to 12,000 PCR coronavirus tests a day as Orig3n has said it does would need to be run with what he called extreme quality control measures.

It requires an amazing amount of concentration and care to really ensure youre not getting contamination or any number of other problems that can happen, he said. If this was an easy (test), I would have said, sure, any lab can do it but this particular (test) ... it really is a finicky test. You have to be extremely careful about how youre doing it, and that means you need a lot of quality controls. You need to be a really diligent lab.

Mina, who stressed he has no knowledge of Orig3n other than circulating allegations that the company had previously been investigated, said when a mistake like the kind Orig3n described occurs, staff should immediately stop processing, sterilize the area and alert any affected patients and health departments.

The fact that the Massachusetts DPH noticed the problem and not Orig3n is a problem, Mina said.

That shows in general that the quality control wasnt being maintained, he said, adding that performing intense quality control checks multiple times daily is a core tenet of running any lab, especially a high-complexity clinical lab. And if were giving them the benefit of the doubt, they didnt know that there was a problem because otherwise its just nefarious.

Mina said that a professionally run lab would likely have caught the mistake, and alerted the state DPH immediately.

Part of the reason for that is simply a motive to care for the patient, who will likely make important decisions about their own behavior based on the test result they receive, which in turn affect other people.

At Brigham, for example, where I was one of the medical directors, of course people feel embarrassed (about making a mistake), but theres this strong culture where people recognize that their embarrassment is not worth a patients hardship, Mina said. Thats one thing that really, I think, lacks a little bit when we move into industry laboratories running clinical tests. That same spirit of honesty ... might not exist everywhere.

While mistakes at labs are common, Mina said, theyre also commonly fixed and they dont usually require an investigation.

Mina said that the U.S. did need to increase its capacity to process coronavirus tests this spring, but labs, especially ones new to the medical diagnostics space, as Orig3n is, need to be monitored closely.

Its just important to keep all these things in check, Mina said. The frenzy to do coronavirus testing has been so extreme. I dont think labs should be immediately shut down for mistakes, but we have to remain vigilant to ensure that all the testing that is being done is up to the highest standards.

See more here:
Genetics start-up continues COVID-19 testing as DPH probes testing errors, including some in Fall River, Taunton - Taunton Daily Gazette

Genetics

Complex Genetics Identified for Heart Condition Affecting Seemingly Healthy Young Women – GenomeWeb

NEW YORK New research suggests that some of the same genetic factors contribute to both myocardial infarction and to spontaneous coronary artery dissection (SCAD), though the variants that increase the likelihood of having a heart attack appeared to reduce the risk of SCAD a condition that is overrepresented in women under 50 who are atherosclerosis-free and lack obvious cardiac risk factors.

Continued here:
Complex Genetics Identified for Heart Condition Affecting Seemingly Healthy Young Women - GenomeWeb

Genetics

Massachusetts startups COVID-19 testing halted as hundreds of false results probed – Enterprise News

The consumer genetics startup, which claims it can tell customers what kind of foods they should eat and whether theyre predisposed to intelligence based on their DNA, has secured some of the biggest coronavirus testing contracts in the country.

A Boston consumer genetics company that has batted away former employees accusations of shoddy practices since at least 2019 is now under investigation by the state Department of Public Health for logging hundreds of false positive coronavirus test results.

The company, Orig3n, has halted COVID-19 testing in the state. A company spokesman said the false positives were due to "human error" in processing the tests.

In August, after learning about the Massachusetts investigation, North Carolina issued a stop order for its coronavirus testing contract with Orig3n.

The consumer genetics startup, which claims it can tell customers what kind of foods they should eat and whether theyre predisposed to intelligence based on their DNA, has secured some of the biggest coronavirus testing contracts in the country.

According to an Orig3n spokesman, the company continues to offer COVID-19 testing elsewhere in the U.S.

So far, the Massachusetts DPH has found Orig3n sent out more than 300 COVID-19 tests wrongly classified as positive in Massachusetts, a number that could increase as DPH staff continue investigating. Orig3n claims the company isnt aware of any additional false positives. According to a Harvard epidemiologist and lab director, false negatives are far more difficult to discover, because most tests come back as negative.

Ted Owens, CEO at North Hills Pines Edge skilled nursing facility in Needham, one of roughly 60 long-term care facilities that used Orig3n test services, said in an Aug. 11 bulletin to residents and staff that Orig3n returned a total of 19 false positives to the nursing home.

The numbers didnt seem credible to Owens, but Pines Edge began immediately to take actions based on the working assumption that we needed to treat these results as correct.

It turned out that several other skilled nursing facilities also showed an unusual spike in positive cases last week, and oddly enough, all these facilities had used the same testing vendor, Owens continued. This caught the attention of the epidemiologists at Mass DPH, who intervened and instructed the vendor to re-test the samples."

Upon retesting, all of the positive tests were found to be negative.

The spike in cases which turned out to be false positives caused panic in Needham. They came as the school district made plans to return to in-person learning, and a public health nurse for the town was asked to appear before the Select Board.

Needham public health nurse Tiffany Zike told the board on Aug. 18 that a number of coronavirus cases reported in July were considered false cases that were revoked due to the lab having an issue.

$25,000 wire transfer

In early May, nursing homes throughout Massachusetts were looking for a miracle.

The DPH had ordered long-term care facilities coping with severe coronavirus outbreaks to test 90% of residents and staff for COVID-19 by May 25 in order to qualify for a portion of $130 million in relief funding offered by the state.

Many nursing homes struggled to meet the deadline because of a shortage of COVID-19 tests. The National Guard was testing nursing home residents and staff on behalf of the state, but demand was high.

When Ron Doty got a memo from the Massachusetts Senior Care Association on May 6 offering Orig3n as a turnkey mobile testing option, he immediately reached out to the company.

Doty, administrator at Marlborough Hills Rehabilitation & Health Care Center in Marlborough, wired $25,000 to Orig3n. The next day, he received 250 COVID-19 test kits from the company.

Two months later, Orig3n was asked to suspend COVID-19 testing in Massachusetts, which it did on Aug. 8. Staff at the DPH noticed the lab was reporting an unusually high rate of positive tests, prompting the agency to investigate, according to a DPH spokesperson.

The state DPH declined to identify which nursing homes used Orig3ns testing services, citing the ongoing investigation.

Tony Plohoros, Orig3ns spokesman, said the lab is now working with state health officials to correct problems in its Boston lab, which has ceased processing coronavirus samples but continues to process consumer genetic profiles.

While it remains unclear if the federal government has taken action to halt use of Orig3ns COVID-19 testing services in other parts of the country, as North Carolina did, concerns about Orig3n hadnt yet reached a health care supply company in Ohio as of this week. That company, Mason, Ohio-based Link-age Solutions, is still working with Orig3n to provide coronavirus tests to long-term care facilities nationwide.

Patrick Schwartz, a spokesman for Link-age Solutions, said Thursday that the company was unaware Orig3n was asked to cease coronavirus testing in Massachusetts.

One of the highest accuracy ratings in the market

Orig3n received an emergency authorization to conduct COVID-19 testing from the Food and Drug Administration in April.

The same month, the company received a federal Paycheck Protection Program loan valued between $350,000 and $1 million from Silicon Valley Bank, according to U.S. Treasury data.

Since getting the FDA approval, Orig3n has provided testing services to The New England Power Generators Association, Bostons homeless population, a boarding school in Virginia and other public and private entities.

In late June, Link-age Solutions, which helps long-term care facilities nationwide obtain supplies ranging from pharmaceuticals to office supplies, issued a press release touting Orig3ns breakthrough testing method as having one of the highest accuracy ratings in the market.

In partnering with Orig3n, Link-age could offer in-demand coronavirus tests to its members at a reduced cost, according to the press release. Results would be returned less than 36 hours after specimens arrived at the lab, the release said.

The lab boasts output capabilities of 6,000 and up to 12,000 tests per day, and will offer billing to Medicare where appropriate, the press release stated. Reporters questions to the Centers for Medicare & Medicaid Services have gone unanswered.

Schwartz, the Link-age spokeman, said Thursday his company continues to offer COVID-19 testing services performed by Orig3n, and that feedback about Orig3ns tests from its customers has been positive.

Company flagged in the past

Orig3n lists its office location as the third floor of 27 Drydock Ave. in the heart of Bostons Seaport neighborhood. Until August, thats where the company processed its coronavirus tests.

Before it got into the coronavirus business, Orig3n billed itself as a consumer genetics pioneer, carving a path toward a future of wellness and health through the use of diagnostics, genetics and biotechnology.

The company, founded in 2014, offers tests ranging in cost from $29 to $298 that are supposed to help people learn what kinds of food, exercise and beauty products would work best for their genetic profiles, and even whether they are genetically predisposed to so-called superhero traits including intelligence and strength, according to Bloomberg Businessweek.

A former Orig3n employee who spoke to Gannett New England reporters on the condition of anonymity because of a nondisclosure agreement with the company said the number one complaint received by customer service was genetic profile tests not being returned to customers. The employee, who left the company pre-pandemic, didnt think the company could handle both genetic profile testing and coronavirus testing.

Unless things drastically changed since I have left, not even testing, just bandwidth-wise, they were already kind of drowning when I left, the employee said.

Despite its startup status, Orig3n quickly gained prominence partly through securing big-name partnerships, including one with the NFLs Baltimore Ravens.

In September 2017, the Ravens linked up with Orig3n for an event called DNA Day. Roughly 70,000 Ravens fans were set to pour into the teams stadium, where they could have picked up a free genetic testing kit.

The event never happened. The Ravens postponed it days before federal health officials told The Baltimore Sun they were working to determine whether any of the testing being offered by Orig3n is subject to the requirements of the Clinical Laboratory Improvement Amendments of 1988.

The federal regulatory standards apply to labs testing human samples in the United States, and are intended to ensure accuracy, effectiveness and reliability.

About a year after DNA Day was scrapped, 17 former Orig3n employees criticized the company in Bloomberg Businessweek, alleging it habitually cut corners, tampered with or fabricated results, and failed to meet basic scientific standards.

Marketing, not science, the employees said, was the companys priority.

Press releases put out by Orig3n throughout the pandemic show the company was eager to publicize contracts with respected institutions, both public and private.

On May 12, the company announced what it called a comprehensive solution to enable COVID-19 testing for Massachusetts nursing home residents.

In the press release, the company said it sought to become the partner of choice for coordinating and providing COVID-19 testing for defined populations beyond long-term care residents and employees, including private employers, schools, government agencies, and cities and states.

The nursing home program is one of many applications for Orig3ns fully-integrated solution, the press release said.

What went wrong?

Doty, the Marlborough nursing home administrator, would not have known about Orig3n if not for the May 6 memo from Massachusetts Senior Care Association, an organization many nursing homes relied on during the viruss spring surge in the state to interpret complex and shifting guidance from the DPH.

Massachusetts Senior Care Association President Tara Gregorio said in a statement that her organization essentially serves as a messenger for its members, and that it relies on governmental agencies to vet labs like Orig3n.

"Throughout the pandemic, MSCA has passed along lists of government approved COVID-19 PCR testing labs options available to our members, Gregorio wrote. We must rely, as all providers do, on the licensing process to ensure legitimacy and accuracy of these labs."

The FDA, which gave Orig3n emergency authorization to conduct coronavirus testing last spring, has not yet responded to Gannett New England reporters seeking comment.

According to a Massachusetts DPH spokesman, Orig3n told the agency after it was contacted by DPH that errors in testing occurred because of a broken vial or contaminated plate during final processing, an explanation DPH investigators are now trying to confirm.

In an email to Gannett New England reporters on Friday, Plohoros, Orig3ns spokesman, said human error at the beginning of the laboratory testing process caused a pre-extraction reagent that was used in the affected batch tests to become contaminated.

In an Aug. 18 press conference, Massachusetts Secretary of Health and Human Services Marylou Sudders said erroneous results from Orig3n affected the number of COVID-19 cases reported in Fall River and Taunton.

The positive test rates for that three-day period for that one lab just seemed high, and so (we) went back, and the lab stopped processing, they're still not processing any tests, Sudders said, adding that DPH staff was analyzing tests processed prior to the discovery to make sure the issue was, as Orig3n told the DPH, a one-time problem rather than a more structural issue.

Dr. Michael Mina is an assistant professor of epidemiology at Harvard T. H. Chan School of Public Health who has experience running laboratories that perform PCR testing.

Mina says a lab that processes 6,000 to 12,000 PCR coronavirus tests a day as Orig3n has said it does would need to be run with what he called extreme quality control measures.

It requires an amazing amount of concentration and care to really ensure you're not getting contamination or any number of other problems that can happen, he said. If this was an easy (test), I would have said, sure, any lab can do it but this particular (test) ... it really is a finicky test. You have to be extremely careful about how you're doing it, and that means you need a lot of quality controls. You need to be a really diligent lab.

Mina, who stressed he has no knowledge of Orig3n other than circulating allegations that the company had previously been investigated, said when a mistake like the kind Orig3n described occurs, staff should immediately stop processing, sterilize the area and alert any affected patients and health departments.

The fact that the Massachusetts DPH noticed the problem and not Orig3n is a problem, Mina said.

That shows in general that the quality control wasn't being maintained, he said, adding that performing intense quality control checks multiple times daily is a core tenet of running any lab, especially a high-complexity clinical lab. And if we're giving them the benefit of the doubt, they didn't know that there was a problem because otherwise it's just nefarious.

Mina said that a professionally run lab would likely have caught the mistake, and alerted the state DPH immediately.

Part of the reason for that is simply a motive to care for the patient, who will likely make important decisions about their own behavior based on the test result they receive, which in turn affect other people.

At Brigham, for example, where I was one of the medical directors, of course people feel embarrassed (about making a mistake), but there's this strong culture where people recognize that their embarrassment is not worth a patient's hardship, Mina said. That's one thing that really, I think, lacks a little bit when we move into industry laboratories running clinical tests. That same spirit of honesty ... might not exist everywhere.

While mistakes at labs are common, Mina said, they're also commonly fixed and they don't usually require an investigation.

Mina said that the U.S. did need to increase its capacity to process coronavirus tests this spring, but labs, especially ones new to the medical diagnostics space, as Orig3n is, need to be monitored closely.

It's just important to keep all these things in check, Mina said. The frenzy to do coronavirus testing has been so extreme. I don't think labs should be immediately shut down for mistakes, but we have to remain vigilant to ensure that all the testing that is being done is up to the highest standards.

Trevor Ballantyne and Jeannette Hinkle are reporters for Gannett New England.

More here:
Massachusetts startups COVID-19 testing halted as hundreds of false results probed - Enterprise News