NEW YORK Thermo Fisher Scientific said this week that the US Federal Bureau of Investigation has approved its Applied Biosystems RapidHit ID System for use by accredited forensic DNA laboratories to process DNA reference samples and search resulting profiles against the US National DNA Index System (NDIS) CODIS database without manual interpretation and review.
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In Brief This Week: Thermo Fisher, Fulgent Genetics, Qiagen, and More - 360Dx
If a patient learns that they do carry a mutation in their BRCA1 or BRCA2 genes, a genetic counselor can discuss potential options with them.
A common option for women is to undergo increased screening, including getting a breast exam from a health care provider every six months, and also a yearly mammogram and breast MRI.
There are also medications that people with BRCA gene mutations can take to reduce the risk of developing breast cancer, she says.
Doctors call these medications chemoprevention, but that makes it sound like chemotherapy, which its not, Milliron says. It is a medication that you do take for several years, and I think it's really important to have that discussion about the pros and cons and what to expect with a specialized health care provider. Women have to be at least age 35 and finished with family planning before they can consider taking a medication to reduce the risk of developing breast cancer because there is a risk of causing birth defects.
The medication that is usually given to premenopausal women is called tamoxifen, and studies point to more clear benefit for women with BRCA2 mutations. There are additional, related medications that are usually prescribed to postmenopausal women if tamoxifen is not a good option for those women.
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Some women chose to have both breasts removed a prophylactic/risk reducing bilateral mastectomy which has been shown to reduce the risk of developing breast cancer by about 90% to 95%, Milliron notes.
This is obviously a very, very personal choice, Milliron says. If you look at the statistics of the women who choose increased screening with mammogram and breast MRI, and the women who choose risk reducing or prophylactic bilateral mastectomy, there is no difference in the chance of passing away from breast cancer between those two groups. So that is something that I think is very important for patients to know and to understand.
These decisions can be influenced by watching family or friends go through cancer treatment, as can family dynamics as well as cultural and religious considerations, she adds.
Ovarian cancer is a different story than breast cancer, however.
I've been a genetic counselor for 22 years, and that is the only thing that has not yet changed about my job is that we still do not have a screening tool for ovarian cancer that works, Milliron says. So for a woman who has a BRCA1 gene mutation, we usually talk about having the ovaries and the fallopian tubes removed between 35 and 40. And then for a woman who has a BRCA2 gene mutation, we usually talk about having them removed between 45 and 50.
While the statistics vary slightly between studies, research shows this surgery can reduce the risk of developing ovarian cancer and fallopian tube cancer by 80 to 95%.
Birth control pills are also a potential option for women with these mutations to reduce their risk of developing ovarian cancer.
That may influence their breast cancer risk, however, so that's a conversation that we have to have, Milliron adds.
Men who carry a BRCA1 or BRCA2 gene mutation, are at increased risk for prostate cancer. And these can be more aggressive and develop at younger ages. For them increased screening starting about age 40 to 45 is recommended, including prostate-specific antigen, commonly referred to as PSA, testing and a digital rectal exam yearly.
The Rogel Cancer Center is very lucky to have a prostate cancer risk assessment clinic, Milliron says. So many times men are somewhat forgotten in the BRCA1, BRCA2 picture.
You can learn more about cancer genetics on the Rogel Cancer Centers website.
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BRCA1 and BRCA2 Gene Mutations: I Have a Mutation, What Are My Options? - University of Michigan Health System News
SAN FRANCISCO, Sept. 11, 2020 /PRNewswire/ --Invitae Corporation (NYSE: NVTA), a leading medical genetics company, today announced the appointment of Kimber Lockhart to its Board of Directors, effective September 10, 2020.
"We are excited to welcome Kimber Lockhart to our board of directors, bringing expertise in scaling fast-growth businesses that will provide valuable insight as we continue to grow," said Sean George, co-founder and chief executive officer of Invitae. "Her expertise as a product, engineering and infrastructure leader, combined with her perspective on leveraging technology to improve healthcare for patients, will be a valuable addition to our board as we continue to pursue our mission to bring genetics to mainstream medicine to improve healthcare for billions of people around the world."
"I'm happy to join the board of directors at Invitae at this exciting time in the company's continued growth," said Lockhart. "Invitae's approach is unique and the company's capabilities combined with its dedication to its mission to make comprehensive genetic information services widely available has the potential to transform healthcare for patients worldwide."
Lockhart is an experienced technology leader, scaling technology platforms to support rapid business growth. Since 2015, Lockhart has served as chief technology officer at One Medical, a national leader in technology-enabled primary care, where she was previously vice president of engineering from 2014 to 2015. Prior to joining One Medical, Lockhart served in various engineering leadership roles at online file-sharing service Box from 2009 to 2014. Previously, Lockhart was co-founder and CEO of Increo Solutions, provider of document rendering and collaboration technologies, which was acquired by Box in 2009. She holds a B.S. in Computer Science from Stanford University.
About Invitae
Invitae Corporation (NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.
Contact:Laura D'Angeloir@invitae.com(628) 213-3369
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Invitae Appoints Kimber Lockhart to its Board of Directors - BioSpace
As of October 1, 2020, the National Library of Medicine (NLM) will no longer offer Genetics Home Reference as a stand-alone website. Instead, much of the content from Genetics Home Reference has been transferred to MedlinePlus, the NLMs flagship website for health information for patients, families, and the general public.
Please visit MedlinePlus Genetics (https://medlineplus.gov/genetics) to access genetics information and learn more about this change.
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Genetics Home Reference - NIH
WHILE its long been said you are what you eat, a team of animal scientists in the US is taking an in-depth look at whether a beasts genetics influences the make-up and performance of its rumen bacteria.
Assistant professor and microbiologist in the University of Tennessees Institute of Agriculture Department of Animal Science, Phillip Myer, is leading a study to determine how the rumen, the largest compartment of the cattle stomach, and the microbes that inhabit it affect the conversion of low-quality feedstuffs into usable energy for ruminants.
Funded by the USDA National Institute of Food and Agriculture, the US$500,000 study seeks to identify whether the genetics of a particular cow influences the rumen microbiome and whether that influence can be passed on to future generations.
The overarching hypothesis of the project was that host beef cattle genetics are associated with the variation of microbes in the rumen, producing an individualised rumen microbiota among animals, Prof Myer said.
He believes that if certain microbes are significant for feed efficiency, disease resistance, and other desirable production traits in cattle, then ruminal microbes represent the greatest opportunity to rapidly improve beef cattle nutrition and influence growth to help producers meet future global protein demands.
Specifically, the three-year project seeks to determine the microbes and microbial interactions in the rumen of Angus cattle as well as the microbes relation to feed efficiency. The scientists involved, including Jonathan Beever, director of the UTIA Genomics Centre for Advancement of Agriculture; Brynn Voy, also a professor in the UT Department of Animal Science; and Larry Kuehn and James Wells, both with the USDA US Meat Animal Research Centre are also seeking to estimate the heritability of the rumen microbes and microbial features and to identify host genomic markers that ensure heritability.
The goal is microbiome manipulation to enhance agricultural production, Prof Myer said.
This project will ultimately provide a means to increase food availability while lowering environmental impacts, develop more sustainable cow-calf production systems, and enhance Angus breeding programs, he said.
The research grant was one of 23 thatthe US National Institute of Food and Agriculture announced last month that should lead to better management strategies for animal production systems, enhance production efficiency, and further develop high quality animal products for human use. Each of the grants was part of NIFAs Agriculture and Food Research Initiative.
Source: University of Tennessee Institute of Agriculture
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Genetics: Is the composition of rumen bacteria a heritable trait? - Beef Central
LUBBOCK, Texas We all know that family plays a role in our traits like height and hair color. Now, a new study finds that ones genetics may even influence how their wounds heal. Researchers from Texas Tech University say that certain genes are linked to the amount of bacteria and pathogens found in wounds.
These pathogens, collectively known as a wounds microbiome,play a big role in determining how efficiently a wound heals in general. They also factor into how long the healing process will take. The more diverse a wounds microbiome, the faster it heals, according to researchers.
A group of patients treated at Lubbocks Southwest Regional Wound Care Center for a lower-extremity infected wound gave their permission to be included in this study. Each of those patients had a sample taken from their wound, as well as a cheek swab. A number of advanced techniques (microbiome profiling, genome fingerprinting, wet lab validation, etc.) were then used to analyze all of the collected patient samples.
We showed that there are identifiable locations in peoples genome where, depending on their genotype, they tend to get infections by specific bacteria, explains co-study leader Caleb Phillips, assistant professor at Texas Tech University and director of the Phillips Laboratory in the Department of Biological Sciences, in a release. The different genomic locations identified tend to be related in terms of the types of genes they are close to and may regulate. A working hypothesis emerging from the research is that genetic differences influencing genes encoding the way our cells interact with the environment and each other are important for infection differences.
This discovery in and of itself does not offer any tangible benefits for patients. The studys authors say their work sets the stage for future innovations, however.
Personalized medicine is a current hot topic in modern healthcare, where the goal is to identify inherent differences within individuals that may cause them to be impacted differently by disease and finding treatments that are well-suited and tailored to the individual and may contribute to better patient outcomes, says co-study leader Craig Tipton, a doctoral student. Our project furthers two equally-interesting avenues of research with potential translation to the clinic. In one, it is our goal to develop robust genomic predictive models that could help physicians to determine a patients risk for chronic wound infection, particularly to specific bacteria.
In the second, this work helps to inform how genetic variation in patients can influence microbiome-host interactions and wound infection pathogenesis. By further studying infection pathogenesis and how these complex microbial communities interact, it may be possible to improve existing therapies or to develop new therapeutic strategies altogether, Tipton adds.
Professor Phillips is also planning out a follow-up project that will hopefully provide enough genetic information to construct predictive models. Also, a second study is gearing up that will investigate if people living in different regions of the United States exhibit differences in their chronic wound microbiomes.
The study is published in PLOS Pathogens.
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Genetics influence wound infection and healing time, study finds - Study Finds
As the role of germline genetic testing becomes more widespread in prostate cancer, a recent trial aimed to identify how genetic counseling could impact an individuals decision to undergo genetic testing and ultimately, identify strategies to improve access to this service for men with potentially lethal prostate cancer, according to Huma Q. Rana, MD, MPH.
There is an increasing recognition of the importance of genetic testing for men with prostate cancer, said Rana. That being said, there are logistical challenges to having [these patients] undergo germline genetic testing, [including those that pertain to additional] appointments for patients who already have advanced cancer, limited expertise of germline genetic testing, and a limited genetics workforce.
During the 2020 ASCO Virtual Scientific Program, Rana presented findings from the randomized controlled ProGen trial (NCT03328091), which evaluated the role of video-education or in-person genetic counseling for men with potentially lethal prostate cancer.
Of 662 eligible patients with signed consent, 164 were randomized to undergo in-person genetic counseling and 498 were randomized to receive 8 minutes of video education. Patients then elected to undergo genetic testing via a 67-gene panel that identified common genetic alterations, such asBRCA1, BRCA2, ATM, CHEK2,and other DNA damage and repair genes. Participants also took part in various surveys, some of which are awaiting further analysis.
Of those patients who received in-person genetic counseling, 88% received the intervention and 98% consented to undergo genetic testing. In the video-education arm, 93% received the intervention and 99% consented to genetic testing.
Overall, 84 pathologic variants were identified in 13% of patients. Of these patients,BRCA1/2accounted for 32% of positive results.
In an interview withOncLive, Rana, an assistant professor of medicine at Harvard Medical School and clinical director of Cancer Genetics and Prevention at Dana-Farber Cancer Institute, discussed the rationale for conducting the ProGen trial, findings from the study, and the clinical implications the results may have on the genetic testing paradigm of men with potentially lethal prostate cancer.
OncLive:What was the rationale to conduct the ProGen trial?
Rana:Access to germline cancer genetic testing has been a long-standing issue. There are increasing indications for germline genetic testing. Through studies by our colleagues, we had recognized that there was a high prevalence of inherited mutations among men with advanced prostate cancers and that this could have significant implications on their treatment.
Men with advanced prostate cancer, and in particular, those who also had underlying mutations in genes likeBRCA2,are known to have poor outcomes. Therefore, it is important to identify these men to match them with targeted therapies that are available to them.
Prostate cancer is a very common disease. Recognizing that traditional germline genetic testing would be difficult and could potentially overwhelm the already strained systems for genetic testing, we decided to conduct this randomized controlled trial. We compared a short educational video, which focused on the educational components of a genetic counseling visit, with in-person genetic counseling for men with potentially lethal disease.
What is the role of genetic testing in men with prostate cancer currently, and how has it evolved in recent years?
Traditionally, cancer genetic testing has focused on women with a personal or family history of breast cancer. In many ways, we thought that the populations of men with advanced prostate cancer and men with potentially lethal prostate cancer were underserved. [We saw an] opportunity to reevaluate how we do germline genetic testing.
What genetic alterations are most prevalent among this patient population?
The main actionable findings among men with advanced prostate cancer are pathogenic or likely pathogenic variants in genes that are responsible for homologous recombination repair. That includes genes such asBRCA1/2, as well as other genes within the same homologous recombination, Fanconi anemia, DNA repair pathway likePALB2 andATM,among others.
In our study, we found that 13% of subjects had a pathogenic variant identified. Of those subjects, 32% had either aBRCA1orBRCA2pathogenic or likely pathogenic variant. This has implications potentially for their own treatment in terms of a matched targeted therapy, such as a PARP inhibitor. Additionally, this could also have significant implications for their relatives in terms of risk stratification for their sisters and daughters and risk of prostate cancer among men in their families.
What was the design of this study and what eligibility criteria were used to select patients?
Eligible subjects were those who had potentially lethal prostate cancer, including men with metastatic prostate cancer whether that be hormone sensitive, castration resistant or de novo disease. Also, men with localized prostate cancer who had a Gleason score of 8 or higher, men who were diagnosed with prostate cancer at age 55 or younger, and men with persistent or rising prostate-specific antigen after prostatectomy were also eligible.
Additionally, eligible men included those with potential biomarkers of lethal prostate cancer, including a family history of close relatives with specific cancers that would enrich for underlyingBRCAmutations. For example, men with prostate cancer and a family history of ovarian cancer were included.
We excluded subjects who had previously had genetic counseling or germline genetic testing, as well as men who had an active hematologic cancer because we would not be able to send a blood or saliva sample [for] them. We also excluded men who did not have potentially lethal prostate cancers.
Subjects were accrued across 3 sites: Dana-Farber Cancer Institute, the Barbara Ann Karmanos Cancer Institute, and UT Southwestern Medical Center. This could allow for geographic diversity among the subjects accrued.
The study was randomized controlled. Eligible subjects were approached and asked if they wanted to participate in the study. Those who consented to the study662 subjectswere randomized 3:1 to video education or in-person genetic counseling. They then scheduled their video-education visit or their genetic counseling visit. At the end of that visit, they were asked if they wanted to undergo germline genetic testing.
In both arms, a very high uptake of germline genetic testing was observed, with no significant differences between arms in terms of demographic characteristics or outcomes. High satisfaction was also reported in both arms at the first time point. Additional analyses of surveys 4 months and 12 months out from result disclosure are pending.
What were the results that were presented during the 2020 ASCO Virtual Scientific Program?
Men who consented to genetic testing underwent a 67-gene panel through a commercial laboratory. This panel-based test looked at genes involved in homologous recombination repair, as well as other DNA damage repair pathways. Other outcomes of interest included a family history of cancer, genetic testing satisfaction, the Multidimensional Impact of Cancer Risk Assessment score, which looks at the impact of genetic testing on distress, uncertainty, and positive experiences, as well as family communication of genetic test results.
At present, we have results available on the genetic testing outcomes, which as I said, showed that 13% of subjects had a positive genetic test result and thatBRCA1/2pathogenic variants account for 32% of subjects with positive results. We also have data on completion of intervention and completion of genetic testing. In the genetic counseling arm, 88% of subjects received their intervention. Of those who received genetic counseling, 98% consented to genetic testing. In the video-education arm, 93% received the intervention of an 8-minute educational video. Of those who received that intervention, 99% consented to genetic testing.
No real difference in consent to genetic testing was observed between arms in terms of those who received their intervention. Obviously, there was some drop-off of consented subjects who did not undergo their intervention.
Regression models were performed to determine if any specific clinical factors of interest such as metastatic prostate cancer, age at diagnosis of prostate cancer 55 years or younger, Gleason score, or hormone-sensitivity [status] were predictive of having a positive genetic test result. Separately, [the models determined] whether [these factors] were predictive ofBRCAstatus.
One significant result showed that an age of less than 65 at the time of prostate cancer diagnosis was associated with a higher likelihood of having a positive genetic test result. Despite that statistically significant result, it is important to point out that 8% of subjects over the age of 65 diagnosed with prostate cancer had a positive result. Personally, I would not use age at diagnosis to determine which patients would quality for germline genetic testing.
What are the clinical implications of these findings?
We can harness technology and technological advances such as video education to improve access to germline genetic testing as it can be impactful in someones cancer treatment, as well as in risk stratification for subjects and their family members.
It is important to note that genetic counseling is still important and genetic counselors still provide a valuable service. The emphasis of this study was placed on moving genetic counseling to the backend so that genetic counselors and their efforts could be focused on patients who had positive test results or those who were anxious about their negative or variant results and wanted to discuss those further with an expert.
Rana HQ, Stopfer JE, Petrucelli N, et al. A randomized controlled trial of video-education or in-person genetic counseling for men with prostate cancer (ProGen). J Clin Oncol. 2020;38(suppl 15)1507. doi:10.1200/JCO.2020.38.15_suppl.1507
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Study Analyzes the Role of Genetic Counseling in Men With Prostate Cancer - OncLive
Professor Edwin Kirk, Clinical Geneticist and Genetic Pathologist talks to us about the role genetics has played in bringing about a revolution in modern medicine.
He has spent the past 20 years at the Sydney Children's Hospital helping families understand a whole host of genetic conditions.
His new book is called The Genes That Make Us which explains the links between genetics and diseases.
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The Genetic Revolution - Nightlife - ABC News
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.
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Genetics start-up continues COVID-19 testing as DPH probes testing errors, including some in Fall River, Taunton - Fall River Herald News
Frozen reproductive cells hatched by surrogate hens will lead to the formation of a chicken biobank for breeds of chickens used in research. Scientists are looking to develop a new technology to limit the number of chickens required for research by freezing reproductive cells and using sterile surrogates to hatch the required breeds.
The method, say scientists, will enable genetic diversity which helps limit risk of poor health to be maintained in those chickens created from frozen material. A team from the Roslin Institute, Scotland, will aim to transfer frozen reproductive stem cells from many individuals of one chicken breed into eggs from sterile surrogate chickens of a different breed. The hatched offspring from the injected eggs that results will look like the sterile line, but will lay eggs of the transferred breed and retain genetic diversity.
A biobank of breeds used in research would help to reduce the number of research chickens, currently bred in large numbers across the world, needed to maintain a genetically diverse population and prevent problems with inbreeding.
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A team from the Roslin Institute, Scotland, will aim to transfer frozen reproductive stem cells from many individuals of one chicken breed into eggs from sterile surrogate chickens of a different breed. - Photo: Mark Pasveer
Dr Mike McGrew, of the Roslin Institute, said: Discovering a way to easily freeze avian reproductive cells and subsequently bring back a genetically diverse flock will help the preservation of endangered breeds of poultry, increase food security from disease outbreaks and reduce numbers of animals used in research.
Scientists will optimise how to freeze reproductive cells by studying three breeds of chickens used in research. The team will then aim to show that a surrogate parent can lay eggs that come from many individual donor birds.
This result will determine the ability to capture the genetic diversity of a chicken flock. This will validate the development of biobanks for flocks of poultry for research purposes, which will limit the number of animals bred for use in this way. The method could also be used to preserve rare chicken breeds.
The adult surrogate birds will have only their reproductive cells changes to the genetics of the transferred cells, and therefore will be largely unaffected, with the exception that their offspring will be a different breed of chicken.
Their projects requires new insights into avian reproduction, which differs considerably from mammalian specie. Researchers hope to recreate the practices applied in other research species, where reproductive materials are frozen to secure future availability while reducing the numbers of animals used in research, as well as preserving the genetics of the species.
Such an approach can also avoid the random genetic changes that can occur naturally between generations of animals bred for research, which can lead to unhealthy animals.
The study, which is supported with funding from the UK Governments Foreign and Commonwealth Office, the Centre for Tropical Livestock Genetics and Health and the National Centre for the Replacement Refinement and Reduction of Animals in Research.
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Chicken Biobank to cut numbers of birds for research - Poultry World