Category Archives: Genetics

Genetics

Reasons Why Long-term Faith on Fulgent Genetics, Inc. (FLGT) Could Pay Off Investors – The InvestChronicle

Lets start up with the current stock price of Fulgent Genetics, Inc. (FLGT), which is $11.20 to be very precise. The Stock rose vividly during the last session to $14.5 after opening rate of $14.5 while the lowest price it went was recorded $11.01 before closing at $15.25.

Fulgent Genetics, Inc. had a pretty favorable run when it comes to the market performance. The 1-year high price for the companys stock is recorded $20.60 on 02/19/20, with the lowest value was $4.71 for the same time period, recorded on 05/21/19.

Price records that include history of low and high prices in the period of 52 weeks can tell a lot about the stocks existing status and the future performance. Presently, Fulgent Genetics, Inc. shares are logging -45.63% during the 52-week period from high price, and 137.69% higher than the lowest price point for the same timeframe. The stocks price range for the 52-week period managed to maintain the performance between $4.71 and $20.60.

The companys shares, operating in the sector of healthcare managed to top a trading volume set approximately around 538484 for the day, which was evidently higher, when compared to the average daily volumes of the shares.

When it comes to the year-to-date metrics, the Fulgent Genetics, Inc. (FLGT) recorded performance in the market was 18.22%, having the revenues showcasing 28.91% on a quarterly basis in comparison with the same period year before. At the time of this writing, the total market value of the company is set at 345.11M, as it employees total of 123 workers.

According to the data provided on Barchart.com, the moving average of the company in the 100-day period was set at 13.55, with a change in the price was noted +0.34. In a similar fashion, Fulgent Genetics, Inc. posted a movement of +3.04% for the period of last 100 days, recording 308,225 in trading volumes.

Total Debt to Equity Ratio (D/E) can also provide valuable insight into the companys financial health and market status. The debt to equity ratio can be calculated by dividing the present total liabilities of a company by shareholders equity. Debt to Equity thus makes a valuable metrics that describes the debt, company is using in order to support assets, correlating with the value of shareholders equity. The total Debt to Equity ratio for FLGT is recording 0.00 at the time of this writing. In addition, long term Debt to Equity ratio is set at 0.00.

Raw Stochastic average of Fulgent Genetics, Inc. in the period of last 50 days is set at 5.53%. The result represents downgrade in oppose to Raw Stochastic average for the period of the last 20 days, recording 5.53%. In the last 20 days, the companys Stochastic %K was 10.80% and its Stochastic %D was recorded 23.03%.

If we look into the earlier routines of Fulgent Genetics, Inc., multiple moving trends are noted. Year-to-date Price performance of the companys stock appears to be pessimistic, given the fact the metric is recording 18.22%. Additionally, trading for the stock in the period of the last six months notably improved by 30.45%, alongside a boost of 194.40% for the period of the last 12 months. The shares increased approximately by 4.35% in the 7-day charts and went down by -9.60% in the period of the last 30 days. Common stock shares were driven by 28.91% during last recorded quarter.

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Reasons Why Long-term Faith on Fulgent Genetics, Inc. (FLGT) Could Pay Off Investors - The InvestChronicle

Genetics

Dr. Philip Leder, Harvard researcher who illuminated the role of genetics in cancer, dies at 85 – The Boston Globe

Dr. Leder, who more than 30 years ago became a co-holder of the first US patent on an animal, the OncoMouse, was 85 when he died Feb. 2 in his home in the Brookline part of Chestnut Hill of complications from Parkinsons disease.

In a tribute posted on a National Institutes of Health website, Dr. Michael M. Gottesman said Dr. Leder was among the worlds most accomplished molecular geneticists.

During Dr. Leders postdoctoral studies at the NIH in the early 1960s, he was recruited by Nirenberg to work on untangling the genetic code.

Their experiments definitively elucidated the triplet nature of the genetic code and culminated in its full deciphering helped set the stage for the revolution in molecular genetic research that Phil himself would continue to lead for the next three decades, wrote Gottesman, who is the NIHs deputy director for Intramural Research and chief of the Laboratory of Cell Biology at the Center for Cancer Research of the National Cancer Institute.

In a eulogy at Dr. Leders funeral, Dr. David Livingston, a Harvard geneticist, said he was brilliant, bold, very good-humored, and blessed with exceptional scientific insight and creativity.

Livingston, who had been Dr. Leders second research fellow at the NIH, added that early on, it became readily apparent that a natural eloquence infused his oral and written scientific discourse.

The groundbreaking research Dr. Leder and Nirenberg conducted came about in part because of the looming prospect of military service. Instead, he volunteered to serve in the US Public Health Service.

I got drafted, so I applied for a position in the Public Health Service, which supplied physicians and scientists to the National Institutes of Health in Bethesda, Dr. Leder said in a 2012 interview with a publication of the American Society for Biochemistry and Molecular Biology. A friend at NIH told me that I ought to meet Marshall Nirenberg because he was doing interesting experiments with the genetic code. Frankly, I didnt know anything about the genetic code. But I went to see Marshall, and he explained to me what he was doing and its importance.

Their research was in competition with work in another laboratory run by Severo Ochoa, a Nobel Prize-winner, and there was a mad race to the finish, Dr. Leder recalled.

I couldnt sleep for days at a time because of the excitement! I must admit it was very competitive; theres no question about that, he added. I would go to bed thinking about the next days experiments and then jump out of bed in the morning and rush to the laboratory. I stayed late at night. It was a lot of work but the intellectual excitement was enormous.

After about 18 years, Dr. Leder left the NIH at the outset of the 1980s to become founding chairman of Harvard Medical Schools department of genetics, where he stayed until 2008.

Working with Timothy Stewart in 1988, he was awarded the first patent on the OncoMouse, an animal genetically engineered to have a predisposition for cancer, which revolutionized the study and treatment of the disease, George Q. Daley, dean of the faculty of medicine at Harvard, said in a statement. Additionally, Phils research into Burkitts lymphoma was instrumental to understanding the origin of tumors with antibody-producing cells.

Dr. Leders many honors included the Albert Lasker Award for Basic Medical Research; the Heineken Prize from the Royal Netherlands Academy of Arts and Sciences; the US National Medal of Science; and the William Allan Medal from the American Society of Human Genetics.

For his many accomplishments, he was extremely modest. He really didnt like to talk about himself much, said his son Ben of Westwood. What he loved about science was the actual work, and thats what really motivated him.

Scientists such as Livingston, who worked with Dr. Leder early in their own careers, considered him a key mentor.

I shall miss Phil forever, Livingston said in his eulogy. Indeed, only rarely has a week passed when I havent thought of him. If the past is any prologue, my abiding hope will be that, when faced with a particularly potent scientific challenge, some of his mentoring magic will spontaneously take hold and point me in one of those special, Phil Leder-like directions.

Although Dr. Leders accomplishments were lasting, he began focusing more on family and subsequent generations as he neared and then entered his retirement years.

What a wonderful ride it has been, he wrote in 2001 for an anniversary report of his Harvard class. But I now see more clearly than ever before that whatever modest gift of knowledge my colleagues and I have been able to turn over to posterity, it has been poor by comparison to the thrill of seeing our grandchildren walk off into the future.

Born in Washington, D.C., on Nov. 19, 1934, Philip Leder grew up in Washington and in Arlington, Va., the only child of George Leder and Jacqueline Burke.

Dr. Leder graduated from Western High School in Washington and went to Harvard, from which he received a bachelors degree in 1956. He graduated from Harvard Medical School four years later.

In 1959, he married Aya Brudner. They had three children and worked together on research.

I continue to collaborate with my wife, Aya, in the remarkable field of molecular genetics, he wrote for the 40th anniversary report of his Harvard class. Lately, however, we find ourselves occasionally sneaking off to New Hampshire, where we have a second home, a canoe, snowshoes, and lots of opportunity to observe nature in real time.

A service has been held for Dr. Leder, who in addition to his wife, Aya, and son, Ben, leaves a daughter, Micki of Washington, D.C.; another son, Ethan of Bethesda, Md.; and eight grandchildren.

Ive discovered that great joy comes from grandchildren, Dr. Leder wrote 50 years after graduating from Harvard College.

Eight grandchildren, he added, can easily shrink a fairly successful career down to its appropriate proportions. In the next few years Ill retire from a life in genetics, which Ive loved, from the genetic code to the human genome. But I wont retire from those grandchildren, and I suspect that many of you feel exactly the same way.

Bryan Marquard can be reached at bryan.marquard@globe.com.

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Dr. Philip Leder, Harvard researcher who illuminated the role of genetics in cancer, dies at 85 - The Boston Globe

Genetics

Rapid genetic testing becomes available to Calgary medical community – CTV News

CALGARY -- When Madden Ellis Garraway was just under two-years-old, he became very sick.

His skin was so dry it bled and he couldnt hold down food, causing his weight dropped to within ounces of his birth weight of seven pounds, six ounces.

Doctors struggled to figure out what was wrong.

We had a large list of things that we were thinking of, and our immunology team and my colleagues who are working with Madden were having trouble arriving at the right one," said Dr. Francois Bernier, head of the Department of Medical Genetics and a professor in the Department of Paediatrics at the University of Calgary's Cumming School of Medicine.

"In fact, we made some attempts to arrive at a diagnosis but we're still unsure. It took a while.

Doctors often struggle with diagnosing unusual health issues, especially those that may require genetic testing.

They often must rely on genome sequencing tests to determine the root cause of a disease and until now, large-scale genome sequencing tests were often sent to labs in the United States for analysis.

Bernier calls it "the diagnostic odyssey," a long, difficult, journey for families waiting while cliniciansfigure out what is causing the underlying health issues.

Madden Garraway in hospital at the age of two. (Photo courtesy the Garraway family)

Maddens family can attest to that.

It was months of waiting, wondering and worrying before Madden's blood was sent to a U.S. lab for genome analysis, where it was learned he suffered from a rare genetic condition called immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome.

IPEX is a rare genetic disorder that can be life threatening.

"If we could have learned about that instantly, or within the several weeks that we can do now, that will save a lot of time," said Maddens father, Patrick Garraway.

"We could have got on with his bone marrow transplant sooner."

Madden received a bone marrow transplant from his sister. Now five-years-old, the playful youngster has made a full recovery and no longer requires medication.

"There are so many families waiting for answers to serious medical conditions," said Bernier.

"Access to gene sequencing early in the medical journey can pinpoint the best treatment approaches and therapies to target the illness."

Madden Garraway today at the age of five. (Photo courtesy the Garraway family)

A new partnership struck between the University of Calgary, University of Alberta, and Alberta Precision Laboratorieswill help families and medical professionalsanswer to those diagnostic puzzles sooner.

The partnership is funded by Genome Canada, the Alberta Childrens Hospital Foundation, and other partners. Four other centres in Canada are also undertaking similar programs through Genome Canadas funding, one in B.C., two in Ontario and one in Quebec.

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Rapid genetic testing becomes available to Calgary medical community - CTV News

Genetics

Scientists create new tool to study the genetic underpinnings of brain disorders – The Medical News

Scientists at the UNC School of Medicine and colleagues created a new computational tool called H-MAGMA to study the genetic underpinnings of nine brain disorders, including the identification of new genes associated with each disorder.

The research, published in Nature Neuroscience, revealed that genes associated with psychiatric disorders are typically expressed early in life, highlighting the likelihood of this early period of life as critical in the development of psychiatric illnesses. The researchers also discovered that neurodegenerative disorder-associated genes are expressed later in life. Lastly, the scientists linked these disorder-associated genes to specific brain cell types.

By using H-MAGMA, we were able to link non-coding variants to their target genes, a challenge that had previously limited scientists' ability to derive biologically meaningful hypotheses from genome-wide association studies of brain disorders. Additionally, we uncovered important biology underlying the genetics of brain disorders, and we think these molecular mechanisms could serve as potential targets for treatment."

Hyejung Won, PhD, study senior author, assistant professor of genetics at the UNC School of Medicine and member of the UNC Neuroscience Center

Brain disorders such as schizophrenia and Alzheimer's disease are among the most burdensome disorders worldwide. But there are few treatment options, largely due to our limited understanding of their genetics and neurobiological mechanisms. Genome-wide association studies (GWAS) have revolutionized our understanding of the genetic architecture related to many health conditions, including brain-related disorders. GWAS is a technique that allows researchers to compare genetic sequences of individuals with a particular trait - such as a disorder - to control subjects. Researchers do this by analyzing the genetic sequences of thousands of people.

"To date, we know of hundreds of genomic regions associated with a person's risk of developing a disorder," Won said. "However, understanding how those genetic variants impact health remained a challenge because the majority of the variants are located in regions of the genome that do not make proteins. They are called non-coding genetic variants. Thus, their specific roles have not been clearly defined."

Prior research suggested that while non-coding variants might not directly encode proteins, they can interact with and regulate gene expression. That is, these variants help regulate how genes create proteins, even though these variants do not directly lead to - or code for - the creation of proteins.

"Given the importance of non-coding variants, and that they make up a large proportion of GWAS findings, we sought to link them to the genes they interact with, using a map of chromatin interaction in the human brain," Won said. Chromatin is the tightly packed structure of DNA and proteins inside cells, folded in the nucleus in a way to maintain normal human health.

Won and colleagues used this map to identify genes and biological principles underlying nine different brain disorders, including psychiatric conditions such as schizophrenia, autism, depression, and bipolar disorder; and neurodegenerative disorders such as Alzheimer's, Parkinson's, amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS).

Using the computational tool H-MAGMA, Won and colleagues could link non-coding variants to their interacting genes - the genes already implicated in previous GWAS findings.

Another important question in brain disorders is to identify cellular etiology - the cells involved in the root cause of disease. This is especially critical as the brain is a complex organ with many different cell types that may act differently in response to treatment. In the attempt of finding critical cell types for each brain disorder, the researchers found that genes associated with psychiatric disorders are highly expressed in glutamatergic neurons, whereas genes associated with neurodegenerative disorders are highly expressed in glia, further demonstrating how the two disorder clusters diverge from each other.

"Moreover, we classified biological processes central to the disorders," Won said. "From this analysis, we found that the generation of new brain cells, transcriptional regulation, and immune response as being essential to many brain disorders."

Won and colleagues also generated a list of shared genes across psychiatric disorders to describe common biological principles that link psychiatric disorders.

"Amongst the shared genes, we once again identified the brain's early developmental process as being critical and upper layer neurons as being the fundamental cell-types involved," Won said "We unveiled the molecular mechanism that underscores how one gene can affect two or more psychiatric diseases."

H-MAGMA is publicly available so that the tool can be widely applicable and available to the genetics and neuroscience community to help expand research, with the ultimate goal of helping people who suffer with brain-related conditions.

Source:

Journal reference:

Sey, N.Y.A., et al. (2020) A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles. Nature Neuroscience. doi.org/10.1038/s41593-020-0603-0.

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Scientists create new tool to study the genetic underpinnings of brain disorders - The Medical News

Genetics

March: Predicting educational achievement | News and features – University of Bristol

Pupils' genetic data do not predict their educational outcomes with sufficient accuracy and shouldnt be used to design a genetically personalised curriculum or tailor teaching, according to a new University of Bristol study. The findings, which compared the genetic scores of 3,500 pupils with their exam results, are published in the journal eLife today [10 March].

Despite some claims that differences in pupils' genetic data could be used to 'personalise' their education or identify those who are likely to struggle or thrive at school, few studies have investigated how accurately genetic measures known as polygenic scores (which combine information from all genetic material across the entire genome) can predict future educational performance better than other measures of student aptitude.

To measure whether genetic data could predict a pupils achievement, researchers from the Bristol Medical School and the MRC Integrative Epidemiology Unit took genetic and educational data from 3,500 children in Bristols Children of the 90s study. They compared pupils polygenic scores with their educational exam results at ages 7, 11, 14 and 16.

Their analysis showed that while the genetic scores modestly predicted educational achievement at each age, these predictions were little better than using standard information known to predict educational outcomes, such as achievement at younger ages, parents educational attainment or family socioeconomic position.

Dr Tim Morris, the studys lead author and Senior Researcher Associate from Bristol Medical School, said: Our analysis shows that some pupils with a low polygenic score are very high performers at age 16. Some of those who would be predicted from their genes to be in the bottom 5% are actually in the top 5% of performers. This contradicts the notion that it is possible to accurately predict how well any one child will perform in education from their DNA.

At the population level, researchers found that children with higher polygenic scores, on average, had higher exam scores than those with lower polygenic scores. They add that polygenic scores can be informative for identifying group level differences, but they currently have no practical use for predicting individual educational performance or for personalised education.

Dr Morris added: Educational achievement is incredibly complex and influenced by a large range of factors including parental characteristics, family environment, personality, intelligence, genetics, teachers, peers and schools, and - often overlooked - chance or random events. This complexity will make it perhaps irresolvably difficult to accurately predict how well any one pupil will do from their DNA.

The best piece of information we currently have for predicting how well a pupil will perform is how well they did in school earlier in childhood. Where we don't know this, such as at the start of schooling, we can make better predictions about a pupils future educational performance by knowing how educated their parents are than by knowing their DNA.

The researchers conclude that genes are insufficient for reliably predicting educational achievement at an individual level. The study was funded by the Economic & Social Research Council [ESRC], the Medical Research Council [MRC] and the Wellcome Trust.

Paper

Can education be personalised using pupils genetic data? by Tim T Morris, Neil M Davies, and George Davey Smith in eLife

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March: Predicting educational achievement | News and features - University of Bristol

Genetics

Podcast: Bird poop, pus, and the Manhattan projectthe surprising origins of the genetic alphabet – Genetic Literacy Project

On the latest episode of Genetics Unzipped, biologist Kat Arney explores the origins of the genetic alphabet: A, C, T and Gthe four letters that spell out all the genetic recipes encoded in DNA.

These letters are the initials of the four nucleotide chemicals that make up DNA: adenine, cytosine, thymine and guanine. They are ingrained in the scientific lexicon and burned into the brain of anyone whos ever worked with or even just learned about genes, genomes and DNA. Its a code thats as inseparable from genetics as the double helix itself.

But while many people know that the structure of DNA was figured out in the 1950s, far fewer people realize that the identities of these molecular letters were uncovered far earlier. In search of the origins of nucleotide names, Arney takes us from the bird poop boom of the 1840s through the heyday of atomic weapons research in the 1940s and beyond.

First we explore the guano mountains of Peru giant hills of solidified seabird excrement which were mined for fertilizer to feed a fast-developing world. Intrigued by the nourishing properties of guano, 19th-century scientists started to investigate its chemical components. This led to German chemist Julius Ungers discovery of guanine in 1846 the first nucleotide molecule to be identified.

DNA itself wasnt discovered until nearly twenty years later, when Johannes Friedrich Miescher isolated a strange sludgy substance from pus-soaked bandages obtained from a nearby clinic. He called it nuclein a name that still lingers in the formal chemical name for DNA, deoxyribonucleic acid. However, his discovery almost went ignored as his supervisor, Felix Hoppe-Seyler, did not believe that such an inexperienced researcher could make such an important finding.

Following up on Mieschers work, his colleague Albrecht Kossel identified cytosine, thymine and adenine as the other components of this mysterious nuclein, after purifying the chemicals from huge amounts of cow organs obtained from a nearby slaughterhouse.

The story of nucleotides doesnt end with the discovery of A, C, T and G. Although these four letters make up the genetic code of DNA, theres another base Uracil, or U that replaces thymine in RNA, a kind of molecular photocopy thats made when genes are read. And we also now know that DNA and RNA bases can be chemically altered to extend the genetic code in some very interesting ways. Finally, we hear how the discovery of the first modified RNA base, pesudouridine, came from a surprising source: the US atomic weapons program at Oak Ridge laboratory in Tennessee.

Full transcript, links and references available online atGeneticsUnzipped.com

Genetics Unzippedis the podcast from the UKGenetics Society,presented by award-winning science communicator and biologistKat Arneyand produced byFirst Create the Media.Follow Kat on Twitter@Kat_Arney,Genetics Unzipped@geneticsunzip,and the Genetics Society at@GenSocUK

Listen to Genetics Unzipped onApple Podcasts(iTunes)Google Play,Spotify,orwherever you get your podcasts

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Podcast: Bird poop, pus, and the Manhattan projectthe surprising origins of the genetic alphabet - Genetic Literacy Project

Genetics

From Iceland COVID-19 In Iceland: deCODE Genetics Will Screen General Population For Virus – Reykjavk Grapevine

Photo by

Magns Andersen

CEO of deCODE Genetics Kri Stefnsson (shown above) intends to screen the entire Icelandic population for COVID-19, of which there have been 60 confirmed cases at the time of this writing.

While almost all of these cases come from three flights returning from Italy and Austria, with the arrivals put in quarantine while testing is underway, the virus has unfortunately found its way into the general population.

Kris desire to screen the general population was not without controversy, as both the Data Protection Authority and the Scientific Ethics Committee initially believed Kri required a special permit in order to conduct the screening. However, Frttablai now reports that both bodies have reversed their position on the matter, as the screening is considered clinical work; not a scientific study.

In fact, a statement from deCODE emphasises that peoples personal data will not be permanently recorded nor put in the companys general knowledge bank. Rather, the purpose of the screening is meant to inform those who have symptoms whether or not they have COVID-19, in conjunction with the Directorate of Health, in order to assist already ongoing efforts.

This screening is expected to go forward within the next week.

Symptoms of COVID-19 include dry cough, fever, and aches in the bones. If you are worried you may have COVID-19, have been to any of the high-risk areas or in contact with anyone who has within the last 14 days, you are urged to call 1700 from an Icelandic phone number or +354 544 4113 from any other phone, where a health care professional will give you further information and guidance.

To prevent transmission or contact with the virus, the cardinal rule is to wash your hands frequently before eating and after touching common surfaces, and avoid touching your face. If you must sneeze or cough, do so into the crook of your elbow or into a tissue. It also naturally follows that you should avoid contact with sick people.

The Directorate of Health in fact has extensive information in English on COVID-19, including a handy FAQ.

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From Iceland COVID-19 In Iceland: deCODE Genetics Will Screen General Population For Virus - Reykjavk Grapevine

Genetics

Coronaviruss Genetics Hint at its Cryptic Spread in Communities – The Scientist

When Emma Hodcroft read that, seemingly out of nowhere, a rash of cases of the novel coronavirus had popped up in Britain in late January, she started collecting media reports on them, searching the articles for clues as to how it had moved to the island nation. Early reports suggested that a lone traveler from Singapore, who was unaware he was infected with virus, had visited a French chalet for a few days and had spread the virus to others at the ski resort. This intrigued Hodcroft, who is half British and a postdoctoral researcher in evolutionary biologist Richard Nehers lab at the University of Basel in Switzerland, where she uses genetics to study and track diseases. She took notes on the cases that were associated with the infected traveler. At first, there wasnt that much information and the story was simple, she tells The Scientist. But more and more cases kept appearing, and she found it hard to keep track of who had traveled to which country and when they were diagnosed.

Hodcroft decided to generate an infographic showing the connections between the traveler from Singapore and the other coronavirus cases emerging in Europe. I thought, Ill make an image and see if anyone else finds this useful, she says. She posted the image on Twitter, and somewhat unexpectedly, it got a lot of attention, she says. People were definitely really, really interested in this. So I kept that image updated over the next week or so. As she updated it, the graphic showed that at least 21 people were exposed to the virus at the ski resort the traveler from Singapore visited; 13 of those people ended up developing COVID-19, the disease caused by the virus. After shed finished the preliminary work, a colleague of Hodcroft saw it and suggested she write it up for publication. She posted the paper on February 26; the next day it appeared in Swiss Medical Weekly.

Hodcroft talked with The Scientist about the work, how its conclusions have been supported by genetic testing of viral strains from patients, and what it tells us about the spread of the virus, SARS-CoV-2, in other countries.

Emma Hodcroft: Firstly, that it seems like so many people [at least 13] could be infected by a single person. It seems like they were infected by the man who traveled from Singapore. So thats quite a lot of forward transmission on his part in a fairly short time period; he was only in France for about four days. Of course, this could be some unusual event that doesnt normally happen, but it lets us put an outer bound on what is possible even if it is not common.

The other thing thats surprising is that, according to the patient statement that he released, the focal patient never had any symptoms. In his own words, he never felt sick. So he did all of this transmission without ever having any indication that he was unwell or that he should be taking any precautions to modify his behavior. It tells us that some infections might be from people who never even know that theyre sick.

Text continues below infographic

Contact tracing showing the spread of SARS-CoV-2 in a particular cluster of patients in Europe.

EH: As far as we can tell, no one from this cluster had severe symptoms. It seems like some people did have some symptoms, but they were never serious. And thats also interesting because it shows that if we didn't know about this outbreak, its pretty likely that these people would have kind of written this off as a bad cold or the flu. None of them would have ended up going to hospital or significantly changing their behavior. And again, this indicates that it might be quite hard, and it is becoming quite hard, to contain this virus because some people don't feel very unwell, such that they would change their behavior or go for testing.

EH: In the US, from the information available, it still doesnt seem like the US has really ramped up testing. We dont know the number of tests that have been performed because its come down off of the CDC website, which is a little concerning. But at least the last reports that were given to us show the US was really lagging behind most countries in the number of tests that it had done.

A few days ago, the research group called the Seattle Flu Study, which is designed to take community samples from random people who have any kind of cough, runny nose, or cold-like symptoms and look for the fluthey pivoted and started testing some of the samples for coronavirus. They found a case in the Seattle area and sequenced the viral genome of the infected person [posted on NextStrain] and showed it links very closely with another case in the Seattle area thats from mid-January. And so this strongly suggests (though we dont yet know for certain) that there has been ongoing undetected transmission in Seattle since mid-January and wasnt picked up because we werent looking for it. This has become clearer in the last few days, as more cases and even deaths have been reported in Washington State. That tells us the virus hasnt just appeared in the last few days in the area.

Text continues below graphic

The viral genome of the first case in Washington (USA/WA1/2020) is identical to Fujian/8/2020. The genome of the virus from a second case in Washington (USA/WA2/2020) is identical to the first Washington case, except it has three additional mutations. This suggests WA1 was a traveler from China bringing the virus to Snohomish County, Washington in mid-January, where the virus circulated undetected for about five weeks, a timespan that explains why WA2 is so similar genetically, with a few mutations. The graphic shows the connection to the other cases with viral sequences now available.

EH: This virus causes respiratory illness, which can make you feel unwell for a few days and then you get better or it can progress. If the illness progresses it can cause lung damage that makes the person more susceptible to other illnesses, such as bacterial infection. This can be treated too and for many people that treatment turns the course of the infection, but some dont and the effort can essentially delay their death. So the infection may have occurred weeks [before a person dies]. This is not something intrinsic to this virus, however. With respiratory illness, its usually something that takes a substantial amount of infection and lung damage before you succumb to it.

EH: Sequencing can tell us a lot about what is happening with the virus right now. The Washington samples are a perfect example. . . . Without having these genomes, we never would have seen this signal of ongoing transmission, which we saw just before the case explosion in Washington. And on the flip side we can tell when cases are coming in from other countries. We have another genome from Washington State thats grouping with genomes that we know have a travel history to Italyso it seems like this could be a case where [an infected person] came back from Italy.

When you have a very small number of cases of a disease, you can do this just through epidemiological contact tracing: you can go to everyone and ask questions and find out the connections between the cases. As the case numbers scale up, this becomes very hard to do. With genetic sequencing, we can do this without having to go and try and figure out where everyone was at the time of infection. Weve had an influx of sequences from Brazil, Switzerland, Mexico, Scotland, Germany. These have clustered with sequences from Italy and have a travel history from Italy and so from that we can show that Italy really is now exporting cases around the world to multiple countries.

EH:Theres been a lot of modeling, not only with genetics but epidemiologically in the last few weeks, and we had pretty strong indications that circulation was wider than publicly thought. At the time, we did try to some extent to get this message out to government health agencies and the public in general. I do think that in the future, incorporating a little bit more of that scientific expertise perhaps into the public dialogue and government decision-making could make a big difference. The earlier that you can act in an epidemic, you have more effect you can have, because one person goes on to infect a few more people who go on to infect a few more people. Its much harder once that has gone up to 10 [infected] people, than if you can stop with person one.

One thing I would note is that studies have shown that limiting transportation really doesnt make much of an impact for outbreaks. Quarantining particular cities, if they seem to be epicenters, can work as a preventive measure, but as the epidemic scales up, you move past being able to contain it in this sense, [and] what you end up doing is just disrupting supply routes, interrupting business, making all of these things much harder.

Editors note: This interview has been edited for brevity.

Ashley Yeager is an associate editor atThe Scientist. Email her at ayeager@the-scientist.com. Follow her on Twitter @AshleyJYeager.

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Coronaviruss Genetics Hint at its Cryptic Spread in Communities - The Scientist

Genetics

$100 Genome Sequencing Will Yield a Treasure Trove of Genetic Data – Singularity Hub

What would the implications be if decoding your genes cost less than a pair of designer jeans? We might soon find out after a Chinese company claimed it can sequence the human genome for $100.

The speed at which the price of genetic sequencing has fallen has been astonishing, from $50,000 a decade ago to roughly $600 today. For a long time, the industry saw the $1,000 genome as the inflection point at which we would enter the genomic agewhere getting a read out of your DNA would be within reach for huge swathes of the population.

That milestone has come and gone, but progress hasnt stopped. And now Chinese firm BGI says it has created a system that can sequence a full genome for just $100. If the claims hold up, thats a roughly six times improvement over state-of-the-art technology.

The key to the breakthrough is a significant increase in the size of the chip that is used to analyze genetic data, so twice as many genomes can be processed at once. Their machine also uses a robotic arm to dunk the chip into baths of the chemicals used to carry out the sequencing process, which allows them to be reused multiple times.

The company says the system, which will be made available to customers late this year, is aimed at large-scale genomics projects and could make it possible to decode the DNA of 100,000 people a year.

The breakthrough could spur further price falls as well by breaking the stranglehold that industry leader Illumina has had on the market. Dennis Grishin, co-founder of startup Nebula Genomics, told MIT Tech Review that he believed the reason the price of genetic sequencing had remained stuck around $1,000 in recent years was due to Illuminas near monopoly.

A $100 genome could significantly broaden the scope of what we can do with genetic data. The growing field of population genetics promises to uncover the genetic quirks that set different groups of people apart, which can prove vital for developing new medicines and understanding the susceptibility of different groups to certain conditions.

While some ambitious projects, such as the UK Biobank project aimed at collating genetic data on 500,000 people, are already underway, the cost of sequencing has so far limited the scope of these projects. A dramatically cheaper system could see these kinds of initiatives become far more commonplace, greatly expanding our understanding of genetic diversity among humans.

By bringing the cost of full genome sequencing within reach of everyday people, the approach could also dramatically expand the scope of personalized medicine. While services like 23andMe have seen a huge expansion in consumer genetic testing, these services only decode a small fraction of the genome that isnt particularly useful for medical purposes.

DNA sequencing is already used to tailor cancer treatment by determining how peoples genetics are likely to influence their response to certain treatments, but it is still far from standard practice. At $100 the practice could become far more common and also be expanded to predict responses to a host of other treatments, ushering in a new era of personalized medicine.

Theres also hope that it would enable new tests that could provide early warning of susceptibility to a host of genetic diseases, or even sequence the DNA of patients microbiomes to detect imbalances in their gut flora that might be responsible for certain conditions or impact their responses to certain treatments.

Rade Drmanac, chief scientific officer of Complete Genomics, a division of BGI, told MIT Tech Review that at $100 it could soon be common to sequence the DNA of every child at birth. This could provide unprecedented early-warning for a host of diseases, but would also open up a Pandoras box of ethical concerns.

The movie Gattaca already explored the potential for discrimination when genetic testing becomes trivially easy, particularly when paired with increasingly powerful genetic engineering that is bringing the potential for designer babies ever closer.

Perhaps more importantly though, our understanding of how our genetics impact our lives is still very hazy. While we have identified some genes that strongly influence propensity for certain diseases, most human characteristics are governed by complex interactions between multiple genes whose activity can vary throughout our lives in response to environmental pressures.

Our ability to read our DNA is far ahead of our ability to understand it, which could lead to all sorts of problemsfrom creating a new class of worried well flagged as at risk of certain conditions that never come to be, to unnecessarily medicalizing or stigmatizing patients in ways that alter the trajectories of their lives.

With a $100 genome now within reach, we will have to tackle these issues with urgency to make sure the genomic age is one to look forward to rather than one to fear.

Image Credit: Pete Linforth from Pixabay

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$100 Genome Sequencing Will Yield a Treasure Trove of Genetic Data - Singularity Hub

Genetics

Genetic testing is helping prevent cancer and changing treatment plans – PhillyVoice.com

It is a truth universally acknowledged that cancer prevention and early cancer detection saves lives.

As scientists and physicians at the major cancer centers work together to unravel the link betweengenetic alterations and cancer risk, genetic testing is rapidly becoming an impactful tool for matching patients to individualized cancer screening programs.

Often called the Angelina Jolie effect based on the actor'slaudable effort to enhance understanding of increased cancer risk for patients with alterations in the BRCA1 or BRCA2 genes the general public has become appropriately more aware of the importance that genetics can play in cancer risk.

Put most simply, genetic testing utilizes DNA usually obtained from small amounts of saliva or blood to identify a genetic mutation, or change, in your DNA that may increase your risk of developing certain cancers. This is determined by sequencing the DNA, which reads the specific DNA code for a subset of genes known to be important for affecting cancer development.

Individuals with a strong family history of cancer or those of a certain ancestry, such as Ashkenazi Jewish ancestry, might be more likely to carry these genetic mutations, but lack of a family cancer history does not mean that someone wont be a carrier. In many cases, genetic risk of cancer arises spontaneously through DNA errors that occur in developing embryos. In other words, genetic risk can result from a spot of ill-timed bad luck, on or before your journey began at the single cell stage.

Being aware that you have a genetic mutation that might increase your risk of developing cancer can help you and your doctor work together and create a personalized plan to help increase your chance of prevention or early detection.

For a man carrying specific alterations in the BRCA2 gene, there may be concern for increased risk of prostate or pancreatic cancer development. The team approach is then taken. After meeting with a genetic counselor, a personalized plan for that patient may entail earlier or more frequent prostate cancer screening, and support for helping the patient change behaviors that may further enhance pancreatic cancer risk, like smoking.

At the Sidney Kimmel Cancer Center at Jefferson, the Mens Genetic Risk centralizes these plans, and coordinates with the patients care team to tailor the individual health plan. Further discussions are also had with regard to cascade testing, or testing family members who may also be at risk. As such, genetic testing can impact not just the patient themselves, but family members as well.

Genetic testing might be recommended to someone if they have a strong family history of cancer, which may include several first-degree relatives parents, siblings and children with cancer; many relatives with the same type of cancer; relatives who were diagnosed at a younger-than-normal age; or a relative diagnosed with a rare cancer, such as a male with breast cancer.

Someone who has already been diagnosed with cancer may benefit from genetic testing as well, especially if they were diagnosed at a young age or have a family history of cancer. Cancers with a known hereditary component include breast, ovarian, uterine, prostate, colorectal, melanoma, pancreatic and stomach cancers.

Having a family history of cancer is not limited to a having a family history of thesamecancer. For example, and related to our case above, a man whose mother or sister had breast cancer might be at risk himself for prostate cancer.

It is also important to note that the presence of a gene mutation is also relevant when treating existing cancer. Certain genetic mutations are also associated with a greater risk of having an aggressive cancer and resistance to certain therapies, which can help your doctor manage specific tumor types.

Your results may help your doctor decide on the best treatment regimen, because researchers have found that some treatments are more effective in people with certain gene mutations. In fact, the FDA has recently approved cancer therapies that are only for patients whose tumors have specific gene alterations and it is expected that many more such targeted therapies will be approved and ready for use in treating cancer.

So what if you have been tested and you do not have an identified genetic risk? It is important to note that not having a family history of cancer or genetic risk of cancer does not guarantee that you will never develop cancer. With regard to family history, the National Cancer Institute notes that only 5-10% of cancers are due to inherited gene mutations.

Additionally, having a family history of cancer does not mean that you are certain to be diagnosed with cancer one day yourself. Genetic testing can help inform you of your genetic risk for certain diseases, but it does not inform you of your overall risk. Other factors that contribute to an increased risk for cancer include environmental factors and lifestyle choices, many of which are modifiable.

If you are considering genetic testing or have questions about whether you or your family should undergo testing, talk to your doctor or other health care providers. Talking to a health professional or genetic counselor can help you decide whether you would benefit from testing. They will collect your family and personal health history, explain what kind of information the test can provide you, and help you decide whether the test is right for you.

After undergoing genetic testing, it is important that you talk to your health care provider about what the results mean for you, whether positive or negative. The results can be confusing, and they can help you interpret your results, allay any fears, discuss potential implications for your family, and help you make an informed decision about how to proceed based on the results. Discussion with a specialist is important for future care decisions.

If appropriate, your doctor may discuss cancer risk-reduction strategies with you, like preventive surgery, medications that help reduce risk or lifestyle changes. They also may recommend alternative screening options to help detect the cancer early, such as beginning mammograms before age 40 or having a colonoscopy at 45 rather than 50.

In addition to the clinical genetic testing, a growing number of companies are making tests available to consumers that can provide insight into ones ancestry, as well as certain health information. There are a few things to keep in mind regarding these direct-to-consumer tests if you decide to go ahead with one.

Ancestry DNA tests are typically not clinical grade, meaning that the information is not of the established quality required to change someones health plan. Even if a cancer gene is suspected on these tests, confirmation would be required using a clinical-grade test that has been deemed valid and reliable for detecting cancer gene alterations.

In addition, many at-home tests are very small in scale, and leave out testing of many genes known to be influential in determining cancer risk. For example, an at-home test might screen for mutations in the BRCA1 and BRCA1 genes, but not for the genes associated with Lynch syndrome, an inherited disorder that increases the risk of several cancer types, including colorectal cancer.

There is a growing concern that negative results from an at-home test can provide consumers with a false sense of security. These tests should not be used as a substitute for the genetic counseling and testing you would receive from your health care provider, who will usually re-order a clinical test to confirm the results, and help you understand the results of the test.

Despite the importance of understanding personal genetic risk of cancer, there are justifiable concerns about privacy. This is an important concept for every person to consider. The Health Insurance Portability and Accountability Act protects your genetic data if you were tested through your health care provider. However, there are fewer protections with the direct-to-consumer DNA testing companies, so be sure to understand the companys privacy policy when signing up for services. Some companies may share your results with third parties, such as medical or pharmaceutical researchers.

A common concern for people considering genetic testing is discrimination based on their genetics. The Genetic Information Nondiscrimination Act is a federal law that protects individuals from genetic discrimination. GINA prohibits health insurers from discrimination based on the genetic information of enrollees, meaning they may not use genetic information to make decisions regarding eligibility, coverage, underwriting or premium-setting. However, GINA does not cover disability, life and long-term care insurance.

GINA also prevents employers who have at least 15 employees from using genetic information in employment decisions such as hiring, firing, promotions, pay and job assignments. Additionally, some states have enacted laws that offer additional protections against genetic discrimination. For more information on GINA and genetic discrimination, click here

In sum, cancer genetics is a rapidly evolving field, and the era is upon us wherein individual wellness plans will be as guided by genetic information as they are by vital signs. It was not long ago when the only genetic testing option was examining the BRCA1 and BRCA2 genes for inherited mutations associated with breast and ovarian cancers.

Fast-forwarding to 2020, we not only understand more about BRCA mutations, but we have discovered that there are many hundreds of other genes related to cancer development and progression. If you had BRCA testing many years ago or were told previously that you were ineligible for genetic testing, talk to your doctor.

As we learn more about genetic mutations and we continue to expand the recommendations for testing to include more people, your doctor might recommend that you undergo genetic testing now or consider additional genetic testing. Understanding your genetic code just might be a life saver!

Karen E. Knudsen, Ph.D., enterprise director at the Sidney Kimmel Cancer Center Jefferson Health, oversees cancer care and cancer research at all SKCC sites in the Greater Philadelphia region. She writes occasionally on topics related to cancer.

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Genetic testing is helping prevent cancer and changing treatment plans - PhillyVoice.com