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Category Archives: Genetics
Fulgent Genetics Announces Increase to Full Year 2020 Guidance to $300 million – Yahoo Finance
Posted: November 25, 2020 at 11:58 pm
TEMPLE CITY, Calif., Nov. 23, 2020 (GLOBE NEWSWIRE) -- Fulgent Genetics, Inc. (NASDAQ: FLGT) (Fulgent Genetics or the company), a technology company providing comprehensive testing solutions through its scalable technology platform, today announced that it has updated its revenue guidance for the full year 2020 due to accelerating demand for its COVID-19 testing solutions.
The company now expects to generate at least $300 million in revenue for the full year 2020, an increase of 28% compared to previous guidance of $235 million. This updated guidance represents estimated year-over-year revenue growth of more than 800%.
Since our Q3 earnings call on November 9th, we have seen accelerating demand for our COVID-19 tests and are raising our full year revenue guidance to reflect this significant increase, said Paul Kim, Chief Financial Officer of Fulgent Genetics. As COVID-19 cases continue to rise across the country, we expect to see increasing demand for testing through the balance of the year. We believe we remain well positioned to meet this demand with our ample resources and capacity to run more than 60,000 tests per day.
About Fulgent Genetics
Fulgent Genetics proprietary technology platform has created a broad, flexible test menu and the ability to continually expand and improve its proprietary genetic reference library while maintaining accessible pricing, high accuracy and competitive turnaround times. Combining next generation sequencing (NGS) with its technology platform, the company performs full-gene sequencing with deletion/duplication analysis in an array of panels that can be tailored to meet specific customer needs. In 2019, the company launched its first patient-initiated product, Picture Genetics, a new line of at-home screening tests that combines the companys advanced NGS solutions with actionable results and genetic counseling options for individuals. Since March 2020, the company has commercially launched several tests for the detection of SARS-CoV-2, the virus that causes the novel coronavirus (COVID-19), including NGS and reverse transcription polymerase chain reaction (RT-PCR) - based tests. The company has received Emergency Use Authorization (EUA) from the U.S. Food and Drug Administration (FDA) for the RT-PCR-based tests for the detection of SARS-CoV-2 using upper respiratory specimens (nasal, nasopharyngeal, and oropharyngeal swabs) and for the at-home testing service through Picture Genetics. A cornerstone of the companys business is its ability to provide expansive options and flexibility for all clients unique testing needs through a comprehensive technology offering including cloud computing, pipeline services, record management, web portal services, clinical workflow, sequencing as a service and automated laboratory services.
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Forward-Looking Statements
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Examples of forward-looking statements in this press release include statements about, among other things: anticipated future revenue and guidance; evaluations and judgements regarding demand for the companys testing services, including its COVID-19 testing services, evaluations and judgements regarding the companys resources and its ability to meet any increasing demand for testing services and statements regarding the companys ability to continue to grow its business.
Forward-looking statements are statements other than historical facts and relate to future events or circumstances or the companys future performance, and they are based on managements current assumptions, expectations and beliefs concerning future developments and their potential effect on the companys business. These forward-looking statements are subject to a number of risks and uncertainties, which may cause the forward-looking events and circumstances described in this press release to not occur, and actual results to differ materially and adversely from those described in or implied by the forward-looking statements. These risks and uncertainties include, among others: the ongoing impacts of the COVID-19 pandemic, including the preventive public health measures that may continue to impact demand for its tests and the pandemics effects on the global supply chain; the market potential for, and the rate and degree of market adoption of, the companys tests, including its newly-developed tests for COVID-19 and genetic testing generally; the companys ability to capture a sizable share of the developing market for genetic and COVID-19 testing and to compete successfully in these markets, including its ability to continue to develop new tests that are attractive to its various customer markets, its ability to maintain turnaround times and otherwise keep pace with rapidly changing technology; the companys ability to maintain the low internal costs of its business model, particularly as the company makes investments across its business; the companys ability to maintain an acceptable margin on sales of its tests, particularly in light of increasing competitive pressures and other factors that may continue to reduce the companys sale prices for and margins on its tests; risks related to volatility in the companys results, which can fluctuate significantly from period to period; risks associated with the composition of the companys customer base, which can fluctuate from period to period and can be comprised of a small number of customers that account for a significant portion of the companys revenue; the companys ability to grow and diversify its customer base and increase demand from existing and new customers; the companys investments in its infrastructure, including its sales organization and operational capabilities, and the extent to which these investments impact the companys business and performance and enable it to manage any growth it may experience in future periods; the companys level of success in obtaining coverage and adequate reimbursement and collectability levels from third-party payors for its tests; the companys level of success in establishing and obtaining the intended benefits from partnerships, joint ventures or other relationships; the companys compliance with the various evolving and complex laws and regulations applicable to its business and its industry; risks associated with the companys international operations; the companys ability to protect its proprietary technology platform; and general industry, economic, political and market conditions. As a result of these risks and uncertainties, forward-looking statements should not be relied on or viewed as predictions of future events.
The forward-looking statements made in this press release speak only as of the date of this press release, and the company assumes no obligation to update publicly any such forward-looking statements to reflect actual results or to changes in expectations, except as otherwise required by law.
The companys reports filed with the U.S. Securities and Exchange Commission (SEC), including its annual report on Form 10-K for the year ended December 31, 2019 filed with the SEC on March 13, 2020 and the other reports it files from time to time, including subsequently filed quarterly and current reports, are made available on the companys website upon their filing with the SEC. These reports contain more information about the company, its business and the risks affecting its business, as well as its results of operations for the periods covered by the financial results included in this press release.
Investor Relations Contacts:The Blueshirt GroupNicole Borsje, 415-217-2633; nicole@blueshirtgroup.com
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Caveats in Genetic Testing: Reporting in the Media – The Great Courses Daily News
Posted: November 25, 2020 at 11:58 pm
By Roy Benaroch, M.D., Emory UniversityPersonal genetic testing is now quite common, but consumers should know about the drawbacks. (Image: Dusan Petkovic/Shutterstock)Are the Example Cases Relevant?
In the October 2017, The New York Times, published an article headlined Personal Genetic Testing is Here. Do We Need It? The tone of the article was set by the subheading: Jody Christ, in her home in Elysberg, PA, says genetic testing saved her life, though experts warn such tests require caution.
This article begins with a personal story, in this case, of a 62-year-old Jody Christ who struggled unsuccessfully for years to control her high cholesterol.
A genetic test revealed she had familial hypercholesterolemia, which put her at high risk for atherosclerotic heart disease, and she underwent a triple-bypass heart surgery. The article quotes Ms. Christ, If I had not taken that test I might be dead by now. Thats a dramatic and unequivocal endorsement of this kind of genetic test.
But this startling example isnt a realistic example of the kind of genetic testing that the rest of this article talks about. Ms. Christ had intractably high cholesterol and testing revealed a definite, causal diagnosis. She needed to have been tested for arterial blockages anyway, even without the genetic test.
This is a transcript from the video series The Skeptics Guide to Health, Medicine, and the Media. Watch it now, on The Great Courses Plus.
The remainder of the article discusses testing on asymptomatic people, or people who dont experience any health problems. And that kind of testing is very different.
Continuing from theTimesarticle:
Experts [] also warn that some consumers may be led astray by genetic findings that are overblown or irrelevant. The Centers for Disease Control and Prevention, for example, takes a cautious approach to personal genomics tests, telling consumers on its website to think before they spit and that evidence on the ability of genetic information to change health behavior has been lacking.
But that cautious sentiment is followed by a paragraph about a company offering testing for genetic variants linked to several kinds of cancer, or another test for heart problems. A medical officer at one of these companies says: This is really for people who dont have any reason to think that theyre at particular riskbut the problem is you really dont know unless you do the genetic test.
Some services, according to the article, claim to predict how well youll respond to different medications or even to different kinds of exercises, or which foods you should eat, or even which types of wine you might prefer.
So, the tests range from things that have at least some scientific support to claims that are just silly. Quoting a professor of genetics, the article says, Theres this mixture of some that have real solid footing and then some that have zero footing.
TheTimesarticle, though beginning with a personal endorsement, did at least superficially present a caveat, by covering the shortcomings inherent in the interpretation of these tests.
Learn more abouthow to better understand and evaluatemedical data.
A 2017Huffington Postarticle focused on a different caveat that ought to be considered before testing. Titled What to Consider Before Taking a 23andMe Test, the thesis was revealed in the subhead, You might not want to know all of your health results. The title refers to testing by a specific company, 23andMe, which is one of the largest direct-to-consumer genetic testing companies.
The article begins in the first person, which is ordinarily taboo in traditional journalism, but gives the article a more personal touch.
I stared at the email announcing Your 23andMe results are ready for several minutes before I had the courage to uncover my genetic health and ancestry secrets.
The article continues, talking about how more and more of these consumer genetic tests are likely to become available. The FDA has announced theyve streamlined approval, and there are several new start-ups that are ready to offer testing for your risk of cancer, genetic diseases, and, quote, an untold number of insights.
A handful of labs are working on offering a very low-cost way to sequence your entire genome, perhaps for as little as $100, in the next few years. Yet experts worry, to quote the article directly again, that consumers might be psychologically unprepared to handle frightening health information.
This is especially true about tests for diseases that currently have no cure, like Alzheimers or Parkinsons disease. In fact, the FDA approval of 23andMes health tests explicitly requires consumers to opt in to testing for these kinds of conditions.
Learn more abouthealth, medicine, and the media.
And, again, theres the crucial importance of understanding that these tests do not make a diagnosis. They can only predict a risk level. The Huffington Post article did say that toward the end, but what it didnt say is that we cannot be sure of the accuracy of these risk estimates.
So what did the authors testing show? The 23andMe material said shed have a 5%-7% chance of having Alzheimers by age 75. But we should take a look at the context the article didnt provide. According to the Alzheimers Association, the risk of having Alzheimers in the 65-74 year age range is between 3% and 9%. The evaluated risk is not much more accurate than the general estimate.
So, the media will often tell you the result of tests but not the complete context. The consumer and the reader should always know the caveats and the pitfalls.
The Centers for Disease Control is cautious about genetic testing because there is generally very little evidence about the ability of genetic information to change health behavior.
Some genetic testing services claim that their tests can predict how well an individual will respond to different medications or even to different kinds of exercise, or which foods you should eat, or even which types of wine you might prefer.
The FDA wants customers to opt in for genetic tests for diseases which have no cure or prevention, such as Alzheimers or Parkinsons disease. This is because consumers might be psychologically unprepared to handle frightening health information.
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Upcoming DCHA Webinar: Genetic Focus: Creating the Most Valuable Calves Across the Dairy Herd – Hoard’s Dairyman
Posted: November 25, 2020 at 11:58 pm
The information below has been supplied by dairy marketers and other industry organizations. It has not been edited, verified or endorsed by Hoards Dairyman.
Maximizing and cultivating the right genetics from your herd is no easy feat, particularly in our shifting and consolidating dairy market. As we strive to improve the efficiency and profitability of our dairy herd, it's more important than ever to assess opportunities to tie in a quality beef solution on our lower genetic animals. Let's take a closer look at the impact of using a differentiated beef-on-dairy program to drive profitability and give thought to its place in a high-caliber genetic strategy.
Please join us Thursday, December 3, 2020, at 2:00 p.m. Central time.
Matthew Cleveland, director, Global Beef Product Development, ABS
Brandon Sowder, director, North American Business Development-Beef InFocus, ABS
Samantha Wilson, North America Beef InFocus & NuEra Genetics Brand Manager, ABS
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Upcoming DCHA Webinar: Genetic Focus: Creating the Most Valuable Calves Across the Dairy Herd - Hoard's Dairyman
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Your Dog Could Have the Same Genetic Makeup as Canines Living During the Ice Age – Yahoo Lifestyle
Posted: November 2, 2020 at 11:50 pm
Your Dog Could Have the Same Genetic Makeup as Canines Living During the Ice Age
There are at least five types of dogs that have DNA tying to breeds from 11,000 years ago, according to a new study.
Is your dog your very best companion? We understand. There's a good reason that canines are said to be a man'sor woman'sbest friend. But just how long exactly have dogs been around? A group of researchersconsisting of scientists from the Francis Crick Institute, the University of Oxford, the University of Vienna, and archaeologists from over 10 countriespublished a study in the journal Science that just gave their answer. According to the article, titled "Origins and Genetic Legacy of Prehistoric Dogs," the team dug deep to discover that the genetic makeup of the modern dog traces back to the end of the Ice Agewhich means your dogs are actually connected to some of the most ancient pet species, CNN reports.
Hillary Kladke / Getty Images
To come to their findings, the scientists studied the DNA from ancient dog bones. From there, they found that there were five types of dogs with specific genetics that came out of the Ice Age. These dogs have "mixed and combined" lineages that are still found in the everyday dog today. The researchers uncovered that Rhodesian ridgebacks have ties to DNA from an ancient Middle Eastern or African lineage, Siberian huskies have genetic makeup from an ancient Siberian lineage, and dogs like chihuahuas and Mexican hairless dogs have some pre-Columbian DNA.
Related: The Most Low-Energy, Non-Shedding Dog Breeds
Anders Bergstrom, the lead author and post-doctoral researcher in the Ancient Genomics Laboratory at London's Francis Crick Institute, also shared that canines have been housebroken and found worldwide for some time now. "Already by 11,000 years agobefore agriculture, and before any other animal had been domesticateddogs had not only been domesticated, but they had already diversified genetically and likely spread across large parts of the world."
Bergstrom added, though, that the mixing of DNA is common in dogs. "All dog breeds from Europe share a common history that started with an ancient mixture, many thousands of years ago, between two very distinct dog lineagesone related to dogs in the Near East, and the other related to dogs in Siberia. This ancient mixing event between these two lineages gave rise to the European dog gene pool which later would give rise to all present-day European dog breeds," he said. "We find that when we compare the history of dogs to the history of humans, to a quite large degree they mirror each other, suggesting that in many cases, the history of dogs has been shaped by humans. In many cases humans would simply bring their dogs with them as they migrated and moved across the world."
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Race, genetics, and their impact on health – Mumbai Mirror
Posted: November 2, 2020 at 11:50 pm
Amongst the various forms of discriminations the world has seen, Apartheid, a system of institutionalised racial segregation practised in South Africa, was one of the worst. I went to medical school with several South African students and the stories of discrimination they told me about were horrifying. Thankfully Apartheid, which was based on white supremacy and lasted more than 40 years, ended in the early 1990s.
I am often asked by my Caucasian friends if I felt discriminated against in the UK because of my brownness. I reply that it may have been true in early 1970s. I remember waiting in line to be served a pint of beer, only to be ignored by the proprietor of the pub. When I had the good fortune of going with a white girl, there was never a problem getting served.
Of course things have changed in the UK, which is today a proudly multicultural country. Overt discrimination of the kind that existed earlier is no longer tolerated. Asian communities especially are a thriving group, eagerly courted by political parties. Today when I go to a pub in London, I find the barmaid waiving me in.
This brings us to the topic of todays column: the role of race in health outcomes. Differences in health status, life expectancy and other indicators in different racial and ethnic groups are well documented. But before we get to that, let me get a somewhat controversial subject out of the way: the dominance of black athletes.
Black athletes enjoy a huge over-representation at the highest level of many sports - from the 100 metres sprint through to the marathon, every single record is currently held by athletes of African origin.
Sir Roger Bannister, who ran the first sub-4-minute mile, said in a speech to the British Association of Advancement of Science in 1995 that heel-bone length, subcutaneous fat and differences in the length of the Achilles tendon may explain the advantage that Africans may have in running sports. A study published in the Journal of Applied Physiology reported that Africans display an enhanced resistance to fatigue while running on a treadmill. There are tens of such studies - many of them controversial - which are beyond the scope of one column.
Coming back to race and health outcomes: Diabetes, for example, is 60 per cent more common among African Americans than white Americans. Black Americans are 2.5 times more likely to suffer limb amputations and 5.5 times likely to suffer from kidney disease because of diabetes.
Blacks in America are more likely to die of asthma than whites and, despite lower tobacco exposure, Blacks are 50 per cent more likely to get lung cancer.
Black Americans suffer twice the risk of stroke than Whites; strokes kill four times more 35- to 54-year-old Blacks than white. Black men have a 40 per cent high cancer death rate, and women 20 per cent higher death rate, than their white counterparts.
The stats for the other major minority group in America - the hispanics - are similarly depressing.
Around 15 years ago, the US FDA controversially approved a drug called BiDil for a single racial-ethnic group - African Americans - for treatment of congestive heart failure. The scientific research leading to BiDils approval tested the drug only in African American populations.
Craig Venter, the famous American biotechnologist who produced the map of the human genome, said it was disturbing to see things categorised in terms of race.
Is race really a surrogate marker for describing human genetic variation? In India genetics and race are certainly considered interchangeable. People still prefer getting married to someone of their own community. One of the major consequence of endogamy - the practice of marrying within the same community - is genetic diseases arising out of a limited gene pool. We would certainly be better off if we looked to widen our gene pool.
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How Long Does It Take to Grow a Beard? Tips, Genetics, and More – Healthline
Posted: November 2, 2020 at 11:50 pm
Facial hair, like scalp hair, grows in stages and understanding it may help you maximize your beard-growing potential.
A full beard can take 2 to 4 months to grow, as facial hair tends to grow between 0.3 and 0.5 millimeters (mm) every 24 hours. This works out to between one third and one half an inch per month.
Many factors can affect the growth of your beard, but there are some lifestyle strategies you can try to enhance your beard growth. Read on to learn more about what influences beard growth and if it can be influenced.
Once you stop shaving, you can expect facial hair to grow in stages. Hair may grow fuller and faster in certain areas, especially at first. Be patient, though, as this is a normal growth pattern for most guys.
Your ethnicity, age, genetics, and hormones not to mention various medical conditions can all affect whether your beard comes in faster or slower, or in all the places you desire.
If your beard seems to be taking a long time to grow in, one of the following factors may be at play.
You may remember guys in high school who seemed to have a full beard before they got their drivers license. Theyre the exception, not the rule.
Typically, full beard growth is possible starting at around age 18, but for many men, that time may not arrive until theyre 30. So, if youre not getting the beard growth you want, it may be because its not your time.
Certain ethnic groups tend to be more hirsute than others. Chinese men, for example, generally have less facial hair than white men, and men of Mediterranean descent generally have thicker beards.
Beyond your ethnic origins, your direct family traits have much to do with whether you can grow a full beard. Likewise, your genetics also determine the texture of your hair, your likelihood of going bald, and so forth.
For clues about your beards future, look to your male relatives. While theres no guarantee that a dad with a full beard will have a son who can pull off the same thing, hair patterns do tend to be hereditary.
Low levels of testosterone can make it more difficult to grow a beard. Talk with your doctor about taking supplements or trying testosterone therapy to help combat low testosterone.
If you want to grow your beard faster, there are a few strategies worth trying. Understand, however, that these tips may not work for everyone.
For general health, its recommended you have a balanced diet that includes fruits, vegetables, whole grains, and lean proteins, while avoiding processed food and added sugars.
For healthy hair growth, some key nutrients should have a place in your diet, including:
Too much stress and too little sleep can cause countless health problems, not to mention affect your beard growth.
Aim for 7 to 8 hours of sleep each night, and try strategies such as meditation or deep-breathing techniques to help de-stress.
Its not uncommon for guys to have thicker hair around their mouths and parts of their sideburns but a little less on their cheeks.
One way to help mask thinner (or zero) growth in those spots is to let the hair around them grow longer. You can hide those sparse spots a little with longer beard hair nearby.
Hair growth, whether its on your scalp or your face, is subject to many changes in your health.
Underlying medical conditions such as alopecia barbae or alopecia areata can cause hair loss from your beard or make it harder to grow a beard that isnt patchy or thin in places.
Alopecia areata is the more common condition. It occurs when the bodys immune system mistakenly attacks healthy hair follicles. When beard alopecia areata develops, men are usually middle-aged and hair loss is typically along the jawline.
Unusual conditions, such as prolactinoma a noncancerous tumor of the pituitary gland can also result in thin or missing facial hair.
Conversely, a noncancerous birthmark called Beckers nevus can sometimes cause excessive, coarse hair to form at the site of the birthmark.
The time it takes to grow a beard not to mention the look of the final product varies from person to person.
If youre trying to grow a full beard, plan on waiting a couple of months before you reach your goal. That means being patient and watching for signs of medical conditions that may affect your beard growth.
If youre concerned about a lack of beard growth, talk with your doctor or a dermatologist.
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Brighton researchers lead study on genetics and asthma – The Argus
Posted: September 12, 2020 at 12:58 am
A STUDY has shown for the first time that genetics may play a part in how well children respond to treatment for asthma.
Researchers at Brighton and Sussex Medical School (BSMS) say their findings indicate that childrens asthma symptoms could be better controlled with personalised treatments.
Dr Tom Ruffles, honorary consultant in paediatric respiratory medicine, worked with a study team led by Professor Somnath Mukhopadhyay, chairman in paediatrics at the Royal Alexandra Childrens Hospital and BSMS.
Dr Ruffles and Professor Mukhopadhyay presented the results from their trial at the virtual European Respiratory Society International Congress.
According to Dr Ruffles, asthma affects one in 11 children in the UK and a child is admitted to hospital because of their asthma every 18 minutes.
He told the conference: Asthma is a common condition in children that causes coughing, wheezing and difficulty breathing.
We have a number of medicines that are generally effective in treating children with asthma, but they dont work equally well for all children.
We think that genetic differences could have an effect on whether these medicines work and thats what we wanted to examine in this study.
Previous research suggests the majority of children with asthma will benefit from standard treatment with a medicine called salmeterol and their regular steroid inhaler.
However about one in seven children have a small genetic difference which means using this medication could actually result in them having more asthma symptoms.
The BSMS study involved 241 young people aged between 12 and 18 who were all being treated for asthma.
Participants were randomly assigned either to receive treatment according to existing guidelines, or treatment according to particular genetic differences their genotype an approach known as personalised medicine.
Children in the personalised medicine group were treated with an alternative asthma medicine called montelukast.
Researchers followed the children for a year to monitor their quality of life, with a score between one and seven according to how their symptoms were and whether their normal activities were limited by their asthma.
They found that for children with a particular gene who were given personalised treatment, they experienced an improvement in their quality of life score.
Professor Mukhopadhyay said: These results are very promising because they show for the first time, that it could be beneficial to test for certain genetic differences in children with asthma and select medication according to those differences. In this study we saw only a modest effect, but this may be partly because the childrens asthma was generally very well controlled and only a few children experienced any serious symptoms during the 12-month period.
Larger trials, with a focus on those with poorer asthma control, may help us determine the true benefit for children of prescribing in this way.
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Invitae Appoints Kimber Lockhart to its Board of Directors – BioSpace
Posted: September 12, 2020 at 12:58 am
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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BRCA1 and BRCA2 Gene Mutations: I Have a Mutation, What Are My Options? – University of Michigan Health System News
Posted: September 12, 2020 at 12:58 am
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
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Long-Lasting Wound Infections Linked to Microbes and Genetics – The Scientist
Posted: September 1, 2020 at 8:52 am
The paper
C. Tipton et al., Patient genetics is linked to chronic wound microbiome composition and healing, PLOS Pathog, 16:e1008511, 2020.
How quickly scrapes, cuts, and gashes in the skin heal can vary greatly depending on a persons body mass, age, and whether the individual suffers from certain chronic conditions such as diabetes. Genetics, a new study suggests, may also play a role, with variations in two specific genes lowering the diversity of a wounds microbiome and lengthening healing time.
Through a partnership with Southwest Regional Wound Care Center in Lubbock, Texas, geneticist Caleb Phillips at Texas Tech University and colleagues gained access to 85 patients DNA samples. Analyzing each persons sample and comparing it to the diversity of bacteria in the patients infected wound, the team found that individuals with specific single nucleotide polymorphisms (SNPs) in TLN2, a gene involved in actin assembly, and ZNF521, which encodes a transcription factor, had lower overall microbial diversity in their wounds and were much more likely to suffer from Pseudomonas and Staphylococcus infections. Those patients skin injuries were also much slower to heal, suggesting that individuals with these specific TLN2 and ZNF521 mutations may be at higher risk of developing chronic wounds.
Despite the modest sample size, Phillips says, the study offers a better understanding of what makes a patient vulnerable to chronic wounds. The SNPs the team described in TLN2 and ZNF521 could serve as biomarkers to identify patients at risk for slow wound recovery, he notes.
The extent of the microbiomes role in chronic wounds is a really big question in the field of healing and repair, notes Lindsay Kalan, a medical microbiologist and immunologist at the University of WisconsinMadison who was not involved in the study. While the papers results are not immediately translatable for patient care, she says, it is definitely a step in the right direction.
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Long-Lasting Wound Infections Linked to Microbes and Genetics - The Scientist
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