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Researchers say theyve discovered six genetic variants associated with the development of anxiety disorders in what they call the largest study of anxiety traits.

In a study published Tuesday in the American Journal of Psychiatry, researchers examined genetic and health data from 200,000 U.S. veterans. The data was compiled by the Million Veteran Program, a research groupfunded by the federal government to determine how genes, lifestyle and military exposures affect health and illness.

While there have been many studies on the genetic basis of depression, far fewer have looked for variants linked to anxiety, disorders of which afflict as many as 1 in 10 Americans, Murray Stein, a staff psychiatrist in the VA San Diego Healthcare System, said in a statement.

In the analysis, researchers discovered six genetic variants associated with higher risks of developing anxiety disorders. The variants related to anxiety disorders were found on chromosomes 1, 3, 6, 7 and 20. The studys authors called it an important step forward in understanding how genes contribute to mental conditions.

The variant on chromosome 7 is identified to be correlated with higher occurrences of bipolar disorder and schizophrenia.

Its also associated with the reception of estrogen, but researchers were reluctant to draw the conclusion on whether that could explain why women are twice as likely than men to be affected by anxiety disorders. While female veterans were included in the study, more than 90 percent of the participants were men. The studys authors said more research is needed on the topic.

The study also found that five of the genetic variants were found in white Americans, while an additional variant was found in African Americans.

Minorities are underrepresented in genetic studies, and the diversity of the Million Veteran Program was essential for this part of the project, Dan Levey, of the VA Connecticut Healthcare Center and Yale University, said in a statement.The genetic variant we identified occurs only in individuals of African ancestry, and would have been completely missed in less diverse cohorts.

According to the Anxiety and Depression Association of America, almost 40 million people in the U.S. experience an anxiety disorder in any given year.

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Scientists discover six genetic links to anxiety - The Hill

A presentation by a Bayer Crop Science rep described the company's successful Multiplex PCR genetic detection

Incs () BHQplex CoPrimer technology, which is used in diagnostics tests utilizing DNA or RNA, was the star of a presentation from Bayer Crop Science at an agricultural presentation on Tuesday.

The presentation, titled "CoPrimer Assays for Multiplex PCR," was put on by a Bayer representative at the International Plant & Animal Genome XXVIII conference this weekin San Diego.

It described a study that involved developing genotyping assays which detect genetic sequences using the Utah-based companys CoPrimer technology. That detection process includes includes multiplex PCR (polymerase chain reaction), a system for detecting multiple genetic sequences all at once, rather than having to do a new test for each particular sequence.

"We are excited to announce this third-party validation, the importance of which cannot be overstated, and which further supports our confidence in the uniqueness and superior advantages of our patented CoPrimer platform technology, CEO Dwight Egan said in a statement. Bayers commitment to a world where more sustainable farming practices and more adaptive, resilient plants are part of the solution to making hunger a thing of the past aligns perfectly with our mission to improve the lives and quality of life in communities across the world.

Co-Diagnostics technology is being licensed by LGC Biosearch Technologies, a biotechnology company based in the UK.

"With partners like LGC, including their globe-spanning footprint in over 200 countries, and validation from such an important force in the world of agriculture as Bayer, we believe that Co-Diagnostics is better positioned than ever to leverage our technology platform and establishing the Company as a valuable player in the world of AgBio, Egan said.

Contact Andrew Kessel at [emailprotected]

Follow him on Twitter @andrew_kessel

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Co-Diagnostics" genetic detection technology on display at international agriculture conference - Proactive Investors USA & Canada

More consumers are developing a taste for goat cheese, milk, and meat as they become aware of the high protein and great taste of these products. While U.S. goat producers are enjoying this steady trend, they remain focused on keeping their animals healthy, especially from scrapie a fatal brain disease that affects goats and sheep.

The goat industry is one of the fastest growing animal industries in agriculture, said Stephen White, an Agricultural Research Service geneticist. Not too many years ago, there were only a few hundred thousand goats in the country. But in January 2018, goats and kids totaled 2.62 million head.

Meat and dairy are the biggest markets, followed by mohair, but goats serve in other unique capacities, said ARS veterinary medical officer David Schneider. Goats are being used to manage weedy areas along highways, get rid of kudzu in the Southeast, and even mow lawns. Theyre also used as pack animals to carry supplies through rugged areas.

For any of these businesses, a single outbreak of scrapie could be devastating.

There is no cure or treatment for scrapie, which is in the same family transmissible spongiform encephalopathies (TSEs) or prion diseases as mad cow disease. TSEs are rare degenerative brain disorders characterized by tiny holes that give the brain a spongy appearance.

Most often scrapie is transmitted through birth fluids to other goats and sheep, and it can remain infectious in the environment for many years. It was first recognized in sheep in Great Britain and other European countries more than 250 years ago and was first diagnosed in U.S. sheep in 1947 in a Michigan flock.

All animals that get scrapie die. But there is good news from ARS. White and Schneider, who both work at ARSs Animal Disease Research Unit in Pullman, Wash., are the first to demonstrate by infectious disease challenge that goats with the S146 allele (a different form of a gene) are less susceptible to scrapie over a usual goat lifetime. They also tested the K222 allele in goats. Their research shows that goats with one copy of either the S146 or K222 allele did not develop scrapie after being challenged with infection at birth. The study was published in The Veterinary Journal in 2018.

Commercial goats raised for either meat or milk age out of herd participation as milkers, dams of commercial offspring, or as sires by around 6 years of age, White said. In this ongoing ARS research, goats with the resistance alleles have lived beyond this commercial lifetime up to 7 years with no clinical disease and without getting sick.

The only countries considered to be scrapie free are Australia and New Zealand. Currently, if one goat is diagnosed with scrapie on a U.S. farm, all goats are quarantined for life or euthanized. You couldnt restock your operation with any susceptible animal, White said. The farmers operation would be over.

This research is good news for both goat and sheep producers because it could help with eradication efforts. Before U.S. producers can take advantage of import and export markets, scrapie must be eradicated from the United States and meet the World Organisation for Animal Health (OIE) criteria for disease freedom.

I think for the sheep industry alone, thats about $10 to $20 million annually in lost revenue, Schneider said.

ERADICATION EFFORTS

The U.S. Department of Agricultures Animal and Plant Health Inspection Service heads the National Scrapie Eradication Program. The agency reports that the prevalence of scrapie has decreased significantly since 2002 through eradication efforts. According to OIE rules, to be declared free of scrapie a country must conduct extensive surveillance for the disease and have had no scrapie cases for seven years, Schneider said.

In sheep, genetic resistance was discovered years ago. A test was then developed to allow U.S. sheep producers to test flocks and breed for the resistance allele. Now if theres a scrapie outbreak on a farm, sheep that have the resistant genotype do not have to be quarantine or euthanized.

The goat industry is hoping that APHIS will recognize the S146 and K222 genetic alleles and give the resistance goats the same get out of jail card that sheep have, White said.

In 2007, White and Schneider started their study by challenging goat kids at birth with a mega dose of scrapie. The ongoing study consists of three genotype groups: goats with the protective S146 allele, goats with the K222 allele, and a control group with the common U.S. goat allele.

Most of the goats with the S146 or K222 allele lived a very long time and did not contract scrapie. Those that died were euthanized due to other natural causes. In contrast, all animals in the control group got scrapie within two years.

The S146 and K222 alleles had previously been associated with scrapie resistance in goats, but resistance to challenge had not been scientifically demonstrated, White said. Were the only ones, to our knowledge, testing these alleles for scrapie resistance to challenge with scrapie from anywhere in the Western Hemisphere. Also, our research is one of the longest running studies, he added.

In 2016, the U.S. Animal Health Association passed a resolution declaring that the evidence for these two alleles is compelling and should be incorporated into the scrapie eradication program, White said. Last year, a European Food Safety Authority panel of scrapie experts determined that there was enough evidence for the two alleles, plus a third known as D146, to be considered resistance alleles for classical scrapie in goats. The panel, which cited ARS research, concluded that these are resistance alleles and recommended they be used in scrapie control and eradication programs.

A DNA test was developed to identify animals with the S146 and K222 alleles and became commercially available in 2018. ARS scientists did not develop the test, but they played a major role in making sure it worked and helping to get it to the goat industry.

This ARS research is a definitive demonstration of goat scrapie resistance, Schneider said. Its important to farmers, their networks, the goat and sheep industries, and other countries with goat scrapie problems.

We have a long-time cooperation with the Canadian Food Inspection Agency, Schneider said. Weve been asked to help them with their in-house testing so they can apply the data to their scrapie eradication program.

Scientists continue to study the goats in the project to find out how long theyll live. This is ARS making an impact serving a role in long-term experiments that only ARS can and its happening now, Schneider said.By Sandra Avant, formerly with ARS Office of Communications.

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Wiping out scrapie in goats, the genetic way - Fence Post

High genetic risk score (GRS) may predict organ damage, end-stage renal disease, and all-cause mortality in patients with systemic lupus erythematosus (SLE), according to study results published in Annals of Rheumatic Disease.1

Investigators genotyped data of a discovery cohort and a replication cohort that included patients with SLE and healthy controls. Patients with SLE (n=1001) were enrolled in the discovery cohort from various clinics in Sweden; healthy controls (n=2802) were enrolled from blood donor centers in the same areas. The replication cohort included 5524 patients with SLE and 9859 healthy controls of European descent, initially enrolled for a study published in 2017.2 Genotyping data were collected from both cohorts using a 200K Immunochip single nucleotide polymorphism array. Cumulative GRSs were assigned to each study participant based on 57 SNPs with known associations to SLE. Risk allele counts of the 57 SNPs were calculated for each participant by summing the total number of risk alleles. Ordinal and logistic regression were used to assess GRS differences between patients and healthy controls.

Results indicated that SLE was more prevalent in the high GRS quartile compared with the low GRS quartile in both the discovery (odds ratio [OR], 12.32; 95% CI, 9.53-15.71; P =7.910-86) and replication (OR, 7.48; 95% CI, 6.73-8.32; P =2.210-304) cohorts. In the discovery cohort, compared with patients in the low GRS quartile, those in the high GRS quartile had a 6-year earlier mean disease onset (33 vs 39 years; P =4.310-5), higher prevalence of damage accrual (OR, 1.47; 95% CI, 1.06-2.04; P =2.010-2), and higher prevalence of any renal disorder (OR, 2.22; 95% CI, 1.50-3.27; P =5.910-5), end-stage renal disease (OR, 5.58; 95% CI, 1.50-20.79; P =1.010-2), and proliferative nephritis (OR, 2.42; 95% CI, 1.30-4.49; P =5.110-3).

Patients in the high GRS quartile vs the low GRS quartile of the discovery cohort were also more likely to have a positive antiphospholipid antibodies test (OR, 1.84; 95% CI, 1.16-2.9; P =9.410-3), with more than doubled odds of being triple positive (OR, 2.27; 95% CI, 1.02-5.09; P =4.610-2). In survival analyses conducted in the discovery cohort, compared with the low GRS quartile, the high GRS quartile displayed earlier onset of first organ damage (43 vs 51 years), first cardiovascular event (45 vs 51 years), nephritis (31 vs 39 years), and end-stage renal disease (43 vs 64 years). Decreased overall survival was also observed in the high-to-low quartile comparisons (hazard ratio, 1.83; 95% CI, 1.02-3.30; P =4.310-2).

These data support the prognostic capacity of GRS for SLE outcomes. The highest GRS quartile was strongly associated with poorer outcomes, including organ damage, cardiovascular events, renal dysfunction, and all-cause mortality. Our results indicate that genetic profiling may be useful for predicting outcomes in patients with SLE, the investigators wrote.

References

1. Reid S, Alexsson A, Frodlund M, et al. High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus [published online December 11, 2019]. Ann Rheum Dis. doi:10.1136/annrheumdis-2019-216227

2. Langefeld CD, Ainsworth HC, Vyse TJ. Transancestral mapping and genetic load in systemic lupus erythematosus. Nat Commun. 2017;8:16021.

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High Genetic Risk Score Associated With Organ Damage, Renal Dysfunction, and All-Cause Mortality in SLE - Rheumatology Advisor

AsianScientist (Jan. 14, 2019) An international team of scientists has sequenced the genomes of almost 2,000 Asians to find clues about Asian ancestry, health and disease. Their findings are published in Nature.

Despite forming over 40 per cent of the worlds population, Asian people have previously accounted for only six per cent of the worlds recorded genome sequences.

To raise the representation of Asian genomes in biomedical studies, Nanyang Technological University, Singaporetogether with Macrogen, South Korea; Genentech, US; and MedGenome, India/USlaunched the GenomeAsia 100K consortium in 2016. The consortium aims to understand the genome diversity of Asian ethnicities by sequencing 100,000 genomes of people living in Asia.

GenomeAsia 100K is a significant and far-reaching project that will affect the well-being and health of Asians worldwide, said NTU Professor Stephan C. Schuster, the consortiums scientific chairman and a co-leader of the study.

In the present study, the researchers analyzed the genomes of 1,739 people, which represents the widest coverage of genetic diversity in Asia to date. Genomic DNA was extracted from blood and saliva samples, then sequenced in the laboratories of the four consortium members. The digital sequencing data were subsequently sent to Singapore for processing and storage.

Zooming in on the frequencies of known genetic variants related to adverse drug response, the team reported that Warfarin, a common anticoagulant drug prescribed to treat cardiovascular diseases, has a higher frequency of appearance in individuals with North Asian ancestry, such as Japanese, Korean, Mongolian or Chinese.

Using this data, scientists can now screen populations to identify groups that are more likely to have a negative predisposition to a specific drug. Knowing a persons population group and their predisposition to drugs is extremely important if personalized medicine is to work, Schuster emphasized.

In addition, the researchers discovered that Asia has at least ten ancestral lineages, whereas northern Europe has a single ancestral lineage. Moving forward, the GenomeAsia 100K consortium will continue to collect and analyze up to 100,000 genomes from all of Asias geographic regions to fill in the gaps of the worlds genetic map and to account for Asias unexpected genetic diversity.The article can be found at: GenomeAsia100K Consortium (2019) The GenomeAsia 100K Project Enables Genetic Discoveries Across Asia.

Source: Nanyang Technological University; Photo: Shutterstock.Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.

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Filling In The Gaps Of Asia's Genetic Map - Asian Scientist Magazine

A Chinese court sentenced biomedical scientist He Jiankui and two accomplices to prison on Monday for illegal medical practice for genetically engineering three babies.

In November 2018, He announced the birth of the first two children, twin girls named Lulu and Nana, as well as the pregnancy of a second woman carrying a genetically engineered fetus. The news created a scientific firestorm, with human genetic engineering experiments widely viewed as dangerous and unethical by scientific organizations worldwide. The third baby has now been born, according to reporting from Chinas state news agency.

The genetic engineering team fabricated an ethics review of their experiment, according to the Nanshan District People's Court of Shenzhen City ruling. They used the faked permissions to recruit couples living with HIV in hopes of helping them to conceive children genetically engineered to receive a mutation giving them immunity to some forms of the disease.

He, formerly a biomedical scientist at the Southern University of Science and Technology in Shenzen, received a prison sentence of three years and a fine equivalent to $480,000. His associates, Zhang Renli and Qin Jinzhou, received jail terms of two years and 18 months with a two-year reprieve, according to the ruling, for practicing medicine without a license and violating Chinese regulations governing assisted reproduction.

The prison sentence and stiff financial penalty sends a message to other Chinese scientists that unsanctioned efforts at human germline editing will not be tolerated, University of Pennsylvania Perelman School of Medicine researcher Kiran Musunuru told BuzzFeed News, by email. I expect that it will have a deterrent effect, certainly in China and possibly elsewhere.

At an October conference, Musunuru had reported that a draft study submitted to a scientific journal about the twins by Hes team suggested that the genetic engineering attempt had badly misfired, targeting the wrong location for the mutation and potentially seeding other mutations throughout the DNA of the children.

Science academies worldwide formed an oversight commission in March, following widespread condemnation of the experiments.

The court ruling found the three sentenced scientists acted "in the pursuit of personal fame and gain" and have seriously "disrupted medical order, according to Chinese state media.

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The Chinese Scientist Who Made The First Genetically Engineered Babies Is Going To Prison - BuzzFeed News

It was quite a year for the Jews of the Bay Area. From TV shows to Barbie Death Camp to white supremacists to racial diversity in the Jewish community, here are the 10 stories our online readers clicked on the most in 2019.

It was a big year for Israeli TV in America. One show in particular, Shtisel, became an unlikely crossover hit among American viewers when the 2013-2016 series about the travails of a haredi family in Jerusalem hit Netflix late last year. As our TV reviewer Esther D. Kustanowitz wrote in January, there are some universal themes about family, community and change that kept mainstream audiences fascinated by the show:

In September, we brought you perhaps the strangest piece of news we covered this year: the curious case of Burning Mans Barbie Death Camp display. Heres how reporter Gabe Stutman described it: A sea of nude Barbies is seen moving toward three full-size kitchen ovens. Some are crucified on bright pink crosses. Other photos show toy soldiers with semi-automatic rifles marching the Barbies from the rear. A banner strapped to an RV proclaims the Barbie Death Camp the friendliest concentration camp at Burning Man. Another reads arbeit macht plastik frei, a reference to the message over the Auschwitz gate meaning work makes you free.

Some might say its the least Jewish story we wrote this year, but I beg to differ. My visit to the recently remodeled Church of Jesus Christ of Latter-day Saints Temple in Oakland was a personal highlight of the year. It was the first time it had been open to the public in over 50 years, and the visit did not disappoint. As I wrote at the time: I was there out of my love of religious architecture and because Id heard that [Mormon temples] include architectural references to the Mishkan (the portable sanctuary used by the Israelites as they wandered in the desert), as well as the ancient Temples that stood on Jerusalems Temple Mount.

No one article about him truly topped the list, but weve been covering the story since the 24-year-old Concord man was arrested in June and accused of plotting online to shoot Jews. Police found a weapons cache and Nazi literature in his home. He has been in and out of court and jail since then. Last month, a federal charge was added: In 2017, he falsified an application to join the Army by lying about his mental health history, according to the FBI. His bail has been revoked and he remains in custody as his case progresses.

This profile of iconoclastic billionaire Craig Newmark, founder of Craigslist, was the first in-depth interview he has given about his Jewish upbringing and values. More and more Im conscious of the notion of treating people like I want to be treated, and more and more Im conscious of the notion that I got lucky financially and I should share that in ways that mean something, he told our late colleague Rob Gloster in April.

The 2018 Portrait of Bay Area Jewish Life and Communities revealed that one-quarter of local Jewish households include at least one person of color. In our Jan. 25 editorial, we wrote: Its time we acknowledge not only the tendency to make Jews the other in broader society, but the equally pernicious tendency to other Jews of color right here within our own community. Our cover story is replete with stories from Jews of color being stared at or questioned when they show up in synagogue, and being passed over for leadership positions. But we also highlighted ways in which the situation is changing for the better.

Remember this years middling Netflix film The Red Sea Diving Resort, based on the secret Israeli plan to extract Ethiopian Jews through Sudan in the early 80s? Yeah, theres no reason you should. Much more interesting is the real-life story of one of the Israeli naval commandos who took part in the operation. Nir Merry lives in Mountain View today, and as he told editorial assistant Gabriel Greschler, during the operation he spent nights picking up Ethiopian Jews who had hiked for days, sometimes weeks, to reach the rendezvous point. He recalled avoiding armed Sudanese patrols on the coastline and ferrying the refugees to a disguised Israeli Navy ship in the Red Sea. We were tired but really excited, Merry said. I remember picking [up] an [Ethiopian] lady and you could hear little squeaks. And I realized it was a baby tucked in her dress close to her body.

Just last week, Adam Eilath, head of school at Ronald C. Wornick Jewish Day School in Foster City, registered his dismay at the Hanukkah-themed episode of the Disney series Elena of Avalor. In his opinion piece he wrote, As a Sephardic Jew raising two small daughters in an American Jewish community whose default is almost always Ashkenazi. I was excited that the episode would feature Princess Rebekah from a Latino (Ladino) Jewish kingdom. But, he continued, As usual, the only way that Sephardic culture gets represented in this episode is by incorporating Sephardic food.

This story was part of a three-part series on the rise of home genetic testing and the ease of doing genealogical research from the comfort of your home computer. One woman we spoke with grew up Catholic, but found out that she was 50% Asheknazi Jewish from a 23andMe home genetic test. But, as reporter Maya Mirsky asks, what does that really mean? The question itself is a new wrinkle in the age-old debate of just what it means to be Jewish, which has been given a kick in the pants from the commercialization of a field of science that says it can tell you something new: For a price, you can now choose from one of seven commercial genetic tests to find out just how Jewish you are.

In October we reported on a Nazi flag seen hanging inside a state parole office in Sacramento. How did it get there? And why was it hanging in a government building? The California Department of Corrections and Rehabilitation told us in an email that they have a zero tolerance policy for the display of objects that are derogatory in nature, but they pointed out that their officers deal with gang members and high-risk sex offenders, [so] we will come into contact with items that may be considered objectionable. However, the email continued, We take this issue seriously and have removed the item and are looking into the circumstances for why the flag was displayed in potential view of the public. No word yet on what they found out.

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Our 10 most read stories of 2019: genetics, TV, 'Barbie Death Camp' and more - The Jewish News of Northern California

(KARK) An Arkansas infant born with a life-threatening genetic disorder has received a multi-million dollar treatment that could save her.

Its also a big milestone since shes the first baby in the state that had the pricey one-time injection paid for by insurance.

When Josephine Gilmore was 4-months-old, doctors found she was born with Spinal Muscular Atrophy, also known as SMA. Its a rare genetic disorder that causes a persons nerves to start dying before theyre born.

How could I let this happen to my kid? Why didnt I see the signs? But you dont know, says Josephines mom Casey Gilmore. Theres not enough education about SMA and how horrible of a disease it is.

The earlier doctors detect the disorder, the better the outcome. Unfortunately many times SMA is not found until a child is a few months old, and that can be too late.

At 6 months nearly 90 percent of the motor neurons in a childs body are dead, Gilmore explains.

There is a gene therapy drug that can help reverse the effects of SMA. Its a one time injection that costs around $2.1 million. Doctors call it life-saving.

Read more:http://bit.ly/35UVgCo

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Infant with life-threatening genetic disorder receives $2.1M injection - KVOA Tucson News

What Can Genes Tell Me About My Cancer Risk?

Before pursuing any kind of genetic testing, it is important to understand that the majority of cancers are not the direct result of genes passed down from your parents. Inherited gene changes sometimes called mutations or variants contribute to somewhere between 5 and 10 percent of all cancers. For that reason, genetic testing and counseling is typically recommended only for people who have had certain types of inherited cancer or who have histories of cancer within their family.

Genetic testing allows healthcare providers to look for inherited gene mutations associated with increased cancer risk, such as BRCA1 and BRCA2 gene changes that have a clear tie to breast and ovarian cancer. For example, women in the general population have roughly a 12 percent chance of developing breast cancer in their lifetime; for women with BRCA mutations, it is closer to 70 percent, according to the NCI. Understanding that risk can help a woman and her healthcare providers plan prevention strategies.

RELATED: My Genetic Test Came Back BRCA Positive. Now What?

Medical-grade genetic cancer testing is typically ordered by your doctor or a specialist, such as a genetic counselor. The tests are noninvasive and typically use a blood or saliva sample.

"Medical-grade testing is developed and approved to answer medical questions [such as]: 'Do I carry a mutation in one of these hereditary cancer genes?'" says Ellen Matloff, the president and CEO of My Gene Counsel, a company that helps clients better understand their genetic testing results, and the former director of the cancer genetic counseling program at Yale University School of Medicine in New Haven, Connecticut. "At-home testing kits are for entertainment and are not developed, or approved, to answer medical questions."

There are several reasons for that. Medical-grade testing is far more thorough, Matloff says. For example, medical-grade testing for BRCA gene mutations analyzes thousands of gene variant options, whereas one leading at-home kit considers just three.

There are also differences in accuracy. A study published in March 2018 in the journal Genetics in Medicine found that 40 percent of gene variants reported in direct-to-consumer tests were false positives and that some of the variants companies told users meant they were at increased risk for certain health conditions are actually considered common gene variants by clinical labs.

An unpublishedstudy presented in October 2019 by Invitae, a medical-grade genetic testing company, found that an individual's ethnicity may have a significant impact on whether their at-home test results are accurate. MUTYH gene mutations, for example, would have been missed in 100 percent of Asian and 75 percent of African American test takers, but only 33 percent of Caucasian individuals.

"Medical-grade testing uses laboratory techniques and validation methods not used by most at-home testing kits," Matloff explains. "So those results are generally more accurate."

Health insurance plans will often cover genetic testing which can cost thousands of dollars but not always, according to the U.S. National Library of Medicine and Breastcancer.org. Direct-to-consumer genetic cancer risk tests tend to be less expensive, so they can be a good starting point for people who are worried about their family history and who do not want to spend too much.

"There are some at-home genetic cancer testing kits that are good, reasonably priced, and convenient for people who do not meet insurance criteria for coverage of traditional medical-grade testing and prefer to pay out of pocket and have the test delivered to their house," Matloff says.

But it is important to remember that everyone from the American Cancer Society to the U.S. Food and Drug Administration (FDA) caution that the tests may provide incomplete or inaccurate information, and urge individuals to talk to their doctors before making any health-related decisions on the basis of those tests.

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What to Know Before You Buy an At-Home Genetic Cancer Risk Test - Everyday Health

NEW YORK, Dec. 30, 2019 /PRNewswire/ --

The Asia Pacific prenatal and newborn genetic testing market is expected to reach US$ 1,679.956 Mn in 2027 from US$ 630.914 in 2018. The market is estimated to grow with a CAGR of 11.6% from 2019-2027.

Read the full report: https://www.reportlinker.com/p05833588/?utm_source=PRN

The key factors responsible for the growth of the market in Asia Pacific are rising burden of genetic diseases among infants, increasing fertility rates and developing healthcare scenario with rising awareness among populace regarding the benefits of prenatal testing.On the other hand, use of digital microfluidics in newborn testing is likely to be a prevalent trend in the future years.

Soaring birth rates among developing economies are responsible for fueling global baby boom.However, the rising birth rate also contributes to rising birth defects and infants suffering from several genetic diseases.

According to a report published by Bill and Melinda Gates Foundation in 2018, there are almost 250 babies born every minute around the globe. Moreover, according to the Centers for Disease Control and Prevention, the fertility rates for Hispanic women was highest in 2017 among Hispanic women with 67.1 births per 1,000 women.Asian countries such as India and China also have high fertility rates due to factors such as effects of religion, inadequate supply of family welfare services, poverty, and others. According to the World Bank in 2016, the fertility rates in India were reported to be 2.23 births per women as compared to 1.80 in the United States and 1.62 in China. Moreover, neighboring countries, such as Pakistan also have alarming rates of fertility. In 2016, the birth rate in Pakistan was reported to be 3.48 births per woman as per the World Bank data. However, the birthrate in India has successfully reduced its high fertility rate, but still is high as compared to other developed nations. According to the United Nations (UN) report published on June 2019, the fertility rate has reduced to 2.1. Therefore, by 2050 additional 273 million people will be added to India's population. The increasing number of parturient women across the world are thus likely to create increasing demand for prenatal and newborn genetic tests across the globe leading to the growth of the market.The Asia Pacific prenatal and newborn genetic testing market, based on the disease indication was segmented into cystic fibrosis, sickle cell anemia, downs syndrome, phenylketonuria, recurrent pregnancy loss, and Antiphospholipid syndrome, and other diseases.In 2018, Down syndrome segment held the largest share of the market, by disease indication.

The highest share of Down syndrome attributes to the high prevalence of this genetic abnormality among fetuses and availability of multiple tests for its screening and diagnostics. However, the sickle cell anemia segment is expected to grow at the fastest rate during the coming year.Some of the major primary and secondary sources for prenatal and newborn genetic testing included in the report are Food & Drug Administration (FDA), Indian Institutes of Technology (IITs), International Trade Administration (ITA), Japan Society of Obstetrics and Gynecology (JSOG), Council of Scientific and Industrial Research (cSIR), Pakistan Down Syndrome Association (PDSA) and others.

Read the full report: https://www.reportlinker.com/p05833588/?utm_source=PRN

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The Asia Pacific prenatal and newborn genetic testing market is expected to reach US$ 1,679.956 Mn in 2027 from US$ 630.914 in 2018 - PRNewswire

Genetic mutations take place deep inside our DNA and can be challenging to identify, let alone treat. Scientists hope that a new deep learning approach will help doctors better combat these disease-causing mutations.

Thanks to their data-crunching abilities, deep learning and A.I. have become increasingly important medical tools in recent years. These models are able to digest and make use of reams of medical data created by the human body by learning patterns from a test data-set and applying those rules to new, incoming data. Far from replacing a physician, these medical machines simply help physicians make connections quicker and more accurately.

While previous deep learning approaches have found success in predicting harmful mutations in the human genome, this new approach is the first to target metal-binding sites of proteins.

The study was published this December in the journal Nature Machine Intelligence and used something called a multichannel convolutional neural network (MCNN) to better understand what kinds of mutations affect disease development. Because metal ions play key structural and physiological roles in the human body, the team focused specifically on the regulation of different metallic nutrients in proteins, something called metalloproteins.

The studys lead author, Hongzhe Sun, a professor and chemistry chair at the University of Hong Kong, said in a statement that this approach can make use of data the team has already collected.

Machine learning and AI play important roles in the current biological and chemical science, said Sun. In my group we worked on metals in biology and medicine using integrative omics approach including metallomics and metalloproteomics, and we already produced a large amount of valuable data using in vivo/vitro experiments. We now develop an artificial intelligence approach based on deep learning to turn these raw data to valuable knowledge, leading to uncover secrets behind the diseases and to fight with them. I believe this novel deep learning approach can be used in other projects, which is undergoing in our laboratory.

But, before bringing in the A.I., the team first had to analyze data collected from these metalloproteins. They found that mutations in different metal ions, usually caused by a change in size or hydrophilic-ness, affected the development of different diseases. For example, zinc-binding site mutations appeared to play a major role in breast, liver, kidney, immune system and prostate diseases while mutations in calcium- and magnesium-binding sites were associated with muscular and immune system diseases. Due to data availability, the research focused on these three metal types.

From there the researchers broke their data into 80 percent training data for the MCNN to learn from and 20 percent testing data to determine how well the MCNN could apply its new knowledge to novel situations. In order to gain useful knowledge from the data sets, the team extracted both spatial and sequential features from the data and fed that to the MCNN.

Using this data the MCNN was able to identify two disease-causing mutations that a previous similar study, PolyPhen-2, had only marked as benign. These mutations were connected to a variety of cancers as well as a rare genetic disorder called JohansonBlizzard syndrome. Apart from these two novel discoveries, the team also found that the MCNN was able to correctly identify disease-causing mutations 82 percent of the time.

In addition to being a useful tool to help researchers make sense of genetic data and to better tackle disease-causing mutations, the research team also hopes that their approach could be used to develop new drugs as well by predicting the binding affinity of small molecules and proteins.

Abstract:

Metalloproteins play important roles in many biological processes. Mutations at the metal-binding sites may functionally disrupt metalloproteins, initiating severe diseases; however, there seemed to be no effective approach to predict such mutations until now. Here we develop a deep learning approach to successfully predict disease-associated mutations that occur at the metal-binding sites of metalloproteins. We generate energy-based affinity grid maps and physiochemical features of the metal-binding pockets (obtained from different databases as spatial and sequential features) and subsequently implement these features into a multichannel convolutional neural network. After training the model, the multichannel convolutional neural network can successfully predict disease-associated mutations that occur at the first and second coordination spheres of zinc-binding sites with an area under the curve of 0.90 and an accuracy of 0.82. Our approach stands for the first deep learning approach for the prediction of disease-associated metal-relevant site mutations in metalloproteins, providing a new platform to tackle human diseases.

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Scientists are using A.I. to unlock humanity's most mysterious mutations - Inverse

The days when an inventor sat behind closed doors tinkering with groundbreaking technology are over. Nowadays, scientists from a variety of backgrounds work together to come up with an invention or a product. They also dare to bring it to the market at an ever-increasing rate. By no means are all innovations a success, but one invention is enough to change the world.

Innovation Origins regularly speaks to innovation leaders, trendsetters who are high on the innovation ladder. Steef Blok has the floor today. The director of TU/e Innovation Lab is responsible at Eindhoven University of Technology for valorization. That entails bringing knowledge from the university back to society. He has to deal on a daily basis with technologies that the rest of the world might not become acquainted with until ten years from now. Technology forms the foundation for the growth of prosperity in the Netherlands. Our daily lives are wholly influenced by it, Blok states.

He talks about the impact of technology in the past and its importance for the future: Our ancestors used to spend all day collecting and preparing food. Technology made it possible for food to be produced on a greater scale. As a result, not everyone had to deal with food and people started providing services. This is how the economy as we know it today came into being. Later on, machines began to take over more and more of the heavy work that people had to do, for example on farms. As a result, the economy grew and so did prosperity.

Sticking with that example for a moment, the advent of machines meant that the farms had to continue to grow as well. You cant put a large machine on one hectare of land. More space is needed for that. Besides that, farmers have to produce more in order to recoup the cost of those machines. Thats how mass production came about.

Although Blok believes that this type of mass production is now going to be phased out again with the advent of intelligent systems. We can connect machines through these intelligent systems. This allows us to remotely switch on the heating at home, but it also enables ASMLs machines to communicate with each other. The possibilities are unimaginable. Even for the aforementioned farmers. For example, a Brabant potato farmer flies drones over his land in order to measure the amount of manure and water thats on the land. He only fertilizes the soil that actually needs it. That saves time and money and is also better for the environment. The harvest will be better as a result too.

A potato is still a potato, but this farmer takes care of his land in a tailor-made way. Thanks to smart technologies, the more of the same mentality is a thing of the past. This can have several meanings. As an example, in the future, a machine could make a different product for one customer than for another.

Universities are indispensable when it comes to these kinds of developments. This is where such systems are conceived. Universities are about ten years ahead of the market. But not everything that is designed at a university will survive on the market. Some projects dont even get further developed into a product. If that does happen, it sometimes doesnt yield the results you envisage. Weve come up with inventions that I thought would make the world a better place. And nobody on the market cared.

I heard, for example, that early menopause is one of the main reasons why some women cant have children. Women are already really reduced in their reproductive ability ten years before the onset of menopause. For example, if someone starts menopause prematurely, at around 40 years of age, they would have already had low fertility from the age of 30. The average age at which a woman has a child in The Netherlands is now over 29 years of age. Technology might offer a solution to this problem.

At the university, we designed a diagnostic chip that allows us to detect the gene that can predict a womans early onset of menopause. As a result, women know at an early age whether they will start menopause early, and they can tailor the time when they can begin to have children. The chip costs about 6 million. So it seemed like the ideal solution. Expensive and often unpleasant treatments with hormones and IVF would be used less as a result. But in the end nobody wanted it. Women didnt want to know at all when they were going to go through menopause. Oh well. The world is full of surprises.

Consumers will ultimately use a product. Naturally, they have to want to do that. This is not only true in the field of healthcare, but also in the field of sustainability and circularity. Things are already improving in those areas. For example, we are already using more and more refurbished computers instead of immediately throwing away all our electronics. We are also handling food more carefully. If we dont want to burn waste anymore, but want to re-use everything instead, that should already be taken into account during the production process. In order to achieve this, entire production processes need to change.

Genetic engineering is also one of the topics that we do a lot of research on at the university, but on which public opinion is really divided. Bananas grow in a greenhouse under controlled conditions at the University of Wageningen. This way the plants are no longer affected by disease. This allows for a constant supply of bananas. These plants are genetically manipulated. I wouldnt hesitate for a second to use that on a large scale.

Genetic engineering in humans is also being explored more extensively. Ive worked in the hospital sector. Here Ive seen people suffer from diseases like cancer and Ive seen people die. Suppose theres a child on its way who has a disease or disability. But when you remove one gene, its completely healthy. Id do it. Although genetic manipulation does pose a risk to people. Imagine, for example, that over time youve designed a perfect human being. But thats true for other technologies: Atomic energy isnt bad, but an atomic bomb is. I admit that the engineered human being is a bit scary. But we can t stop technological progress.

Read more here:
How innovation works: 'A perfect human being is the danger that genetic manipulation poses' - Innovation Origins

When Anne Weber became pregnant with her first child at age 28, little did she suspect that, rather than bringing home a bundle of joy, she would have to contend with a cancer diagnosis that would change the course of her life.

At her first ultrasound, not only did she find out that she had miscarried but also that she had a large cyst on one of her ovaries. That cyst turned out to be cancer.

"Because I didn't have a strong family history of cancer, everyone assumed it would be benign," she recalled in an interview with Medscape Medical News. "We were all very surprised when the pathology report came back with ovarian cancer."

Although the incidental finding may have been heartbreaking, it may also have been lifesaving. Because it was caught early, her ovarian cancer was of stage I. She underwent surgery and is now telling her story, 10 years later.

Weber is now a patient advocate at FORCE (Facing Our Risk of Cancer Empowered), a national nonprofit organization dedicated to individuals affected by hereditary breast, ovarian, and related cancers, andpreviously worked for a while at genetic testing company Myriad Genetics.

How Weber developed ovarian cancer at such a young age was initially a mystery. Without a family history and without symptoms or personal risk factors for it, her physician did not suspect a hereditary cancer even though at the time, National Comprehensive Cancer Network (NCCN) guidelines recommended that physicians consider genetic testing for anyone younger than 50 who are found to have ovarian cancer. However, her physician didn't offer genetic testing, or even counsel her about it.

Weber was left with nagging questions. She wanted to know why she'd gotten ovarian cancer and how she could prevent a recurrence. So she started sleuthing around on the Internet.

"When I was diagnosed, I knew nothing about this. Literally, I didn't know what terms to type into the search engine," she said.

When she stumbled onto an online forum that linked her to the NCCN guidelines, the pieces of the puzzle began fitting together.

This was 2009, and she was living in Atlanta at the time. She asked her physician about genetic testing, and her doctor referred her to the only genetic counselor in the city, who was at Emory University. At that time, the wait time for genetic testing was 6 months.

"Six months when you're dealing with something like cancer can be pretty dire," Anne said.

Genetic testing for breast and ovarian cancer has not always been straightforward, and fast-moving research means that genetic testing is becoming more and more complex all the time.

The NCCN may have recently provided a step in the right direction. On December 4, the NCCN released updated clinical practice guidelines on genetic/familial high-risk assessment for breast and ovarian cancer.

The guidelines represent a fairly radical shift from previous recommendations, which focused on BRCA genes, according to Robert Pilarski, MS, LGC, MSW, LSW, a genetics counselor and professor of clinical internal medicine at Ohio State University's Comprehensive Cancer Center. He was also vice chair of the NCCN guidelines panel that updated the guidelines.

The NCCN recommendations remain anchored in strong, unbiased evidence and reflect a conservative approach regarding genes for which there is lack of evidence, he said. But the guidelines also acknowledge a shift toward panel testing and include a table of 17 moderate- and high-penetrance genes that should be considered in addition to BRCA genes. They also provide management recommendations for people who carry these genes.

"Most people now are doing panel testing where the panel involves multiple genes besides BRCA," Pilarski said, "This guideline update is the closest that we've got to a consensus [regarding breast, ovarian, and pancreatic cancer] because it now specifies a set of genes that are reasonable to include in at least a basic panel."

The use of multigene panels is controversial, as previously reported by Medscape Medical News. A study published in early 2019 in the Journal of Clinical Oncology suggested that roughly half of breast cancer patients who carry a pathogenic or likely pathogenic mutation are missed by current genetic testing guidelines. That study used an 80-gene panel, and the authors recommended expanded panel testing for all patients with breast cancer.

Critics shot back, arguing that universal testing is not warranted and that large, multigene panels may create undue anxiety among patients as well as confusion among physicians. Research is in its infancy for many of these genes, and physicians don't know how or even whether to act on results for some of them. That's especially true for variants of unknown significance, which have not been confirmed to increase risk for disease.

Perhaps in response to this controversy, the NCCN guidelines do not recommend universal testing for breast or ovarian cancer. Instead, they provide clinical scenarios in which genetic testing is clinically indicated, may be considered, or has low probability of clinical utility. The NCCN authors hedge their bets by not endorsing for or against multigene panel testing.

"I think we held back from becoming too definitive because there may be times when other genes are appropriate," Pilarski explained. "We didn't want to lock patients out of insurance coverage, and we didn't want to lock ourselves into a set of genes that could change next week with changing evidence."

This "wishy-washiness" over multigene panels creates a problem for Mehmet Copur, MD, FACP, an oncologist who wrote a critical response to the study published earlier this year. He is affiliated with the Morrison Cancer Center in Hastings, Nebraska, and is an adjunct professor at the University of Nebraska Medical Center in Omaha.

"I believe they have tried to please both parties, and they have been too nice," he said. "My personal opinion is that I would go for high-penetrance genes in clinically suspicious settings. I would ignore that disclaimer note and say, 'I'm going to do this 17-gene panel.' "

Going one step further, he suggested the creation of commercially available gene panels based on the NCCN recommendations for these 17 genes.

"There are a wide variety of panels available with different genes on different panels. There is a lack of consensus among experts regarding which genes should be tested in different clinical scenarios. If possible, it would be helpful to create commercially available gene panels based on the updated NCCN recommendations," he said.

In another major change, the guidelines now include pancreatic cancer for the first time. But in contrast to breast and ovarian cancer, the NCCN recommends that all patients with newly diagnosed pancreatic cancer receive genetic testing.

"Approximately 1 in 20 patients with pancreatic cancer will have an inherited susceptibility gene. Most people with pancreatic cancer who carry these mutations do not have a family history of pancreatic cancer, so you can't rely on family history to guide you about who should get genetic testing," Michael Goggins, MD, MBBCH, who was also involved in updating the NCCN guidelines, told Medscape Medical News. Goggins is director of the Pancreatic Cancer Early Detection Laboratory at Johns Hopkins University School of Medicine, Baltimore, Maryland.

Advantages of genetic testing for pancreatic cancer include guidance regarding choice of chemotherapy and the possibility of cascade testing for prevention or earlier detection of pancreatic cancer in family members.

Other additions to the guidelines include new recommendations for genetic testing for individuals with Ashkenazi Jewish ancestry, as well as new or updated recommendations for Li-Fraumeni syndrome and Cowden/PTEN hamartoma tumor syndrome.

The guidelines also offer an expanded section on genetics risk assessment and genetic counseling. Genetic testing has become increasingly complex, and the NCCN emphasizes the importance of genetic counseling throughout the testing process.

It has been 10 years since Anne Weber was diagnosed with ovarian cancer. Because she was diagnosed at a young age (28 years) and her other ovary was unaffected, she opted for surgery to remove only the ovary with the tumor.

After her own Internet research and at her own request, Weber underwent genetic testing. She found out that she is a carrier of the BRCA2 mutation, which carries high risk for breast, ovarian, and pancreatic cancer.

Current recommendations are that people with BRCA2 mutations start breast cancer screening at age 25, so Weber was screened immediately.

Her first breast MRI revealed a mass that was found to be stage I breast cancer. At that point, she chose to have her other ovary removed, as well as both fallopian tubes and both breasts, which significantly reduces her risk for recurrence.

"I'm so incredibly grateful that I found the information. All the guidelines say that I shouldn't even have had my first mammogram at my current age of 39. So there is low likelihood that I would have been diagnosed by now, and it certainly would not have been stage I," she said.

Since her diagnosis, she and her husband have adopted a child.

"Genetic testing isn't right for everyone. People aren't going to make the same decisions I did," she said. "The biggest thing is to understand that being positive doesn't mean that you're going to get cancer. It just allows you to have that circle of care to try to prevent cancer, or at least catch it earlier, when it's more treatable."

NCCN. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2020. Full text

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Heartbreaking News, Then Tumor Find Leads to Genetic Testing - Medscape

US Pentagon in Washington DC.

For years, many of us in the genetics community have strongly suggested thatconsumers think long and hard beforeordering recreational genetic test kits for Christmas or any other occasion. But when thePentagon sends a stern warningto its military members, even Santa needs to listen.

Military Mission at dusk

Why would the Pentagon be worried about our military using at-home DNA kits?A memo issued to service membersfrom the Office of the Secretary of Defensestates that recreational genetic kits could give military personnel inaccurate information about their health. These inaccurate results couldhave negative professional consequences,particularly because military members, who are required to report medical problems, are not covered bytheGenetic Information Nondiscrimination Act (GINA),which prohibits genetic discrimination by employers and health insurers.

It is already well known that thesekits should not be usedto answer serious medical questions based on a personal or family history of disease. Anyone with such a history shouldconsult a certified genetic counselorto ensure that an accurate test is ordered and interpreted correctly.The Pentagon concurs, saying they dont advise against genetic testing altogether, but recommend that service members get genetic information from a licensed professional rather than a recreational kit.

But are there other reasons the Pentagon may be warning against recreational genetic test kits? Couldthis genetic information lead to genetic surveillance, tracking, and grave privacy concerns for military personnel and others who use these kits?

China has already demonstratedthat genetic technology and research findings, intended to help people, can instead be used to harm. It is believed that the Chinese government has collected DNA samples from its citizens throughmandatory physicals to create a large databasethats being used to weed out up to one million Uighurs to be sent toconcentration camps. Although U.S. citizens, thankfully, enjoy greater protections than those in China, this example illustrates that our DNA can give insight into ancestry and ethnic origins that can be used for grave harm.

In fact, genetic data can reportedly be usedto determine how gay a person is, and if you are a 23andMe user who shared your data for research, you may have contributed to this study. Could DNA data be used to determine if military personnel may be gay? And if so, could that information beused against them?

And, of course, none of these companies can guarantee that their databases wont be hacked,as has happened in the past. Recently, GEDmatch, the genealogy company used to track down the Golden State Killer, wasacquired by a company created to work with crime labs. Other testing companies have chosen toshare their user data with the FBI.How will all of this consumer data be used, for good or evil? The truth is, we dont know.

finger print with DNA code at background

What we do know is thatundercover military agentscould likely be identified using a small sample of blood or saliva and large DNA databases. This may be true whether or not they personally have undergone recreational genetic testing,since one of their relatives probably has. For our military working undercover, this means that anonymity is likely a thing of the past.

Read more:
Why The Pentagon Is Warning US Military Not To Use Recreational Genetic Test Kits - Forbes

Often, science moves ahead incrementally. Yet sometimes it advances in dramatic leaps and bounds that can stir new hopes for medical benefits while shaking society to its very core. We saw both in 2019, as work using the gene-editing tool CRISPR gained momentum.

The year opened with the scientific community scrambling to respond to the news that Chinese researcher He Jiankui had used CRISPR technology to edit the genomes of human embryos. The experiments resulted in the November 2018 birth of twin girls, the first humans with genetically altered germline cells which means their genetic changes are heritable and can be passed on to future generations.

The National Institutes of Health (NIH), a crucial public supporter of biomedical research, is among the many who consider such experiments both irresponsible and unethical. The NIH has not funded any use of heritable gene-editing technologies in human embryos, and it has no intention of doing so.

But NIHs strong stance against heritable gene editing does not mean that we think CRISPR has no role in the future of clinical medicine. This innovative technology possesses enormous potential for therapeutic good if used for making nonheritable genetic changes. In that approach, genetic material is altered only in relevant somatic (nonreproductive) cells, so there is no chance of passing those changes on to future offspring.

NIHs highest priorities in 2019 included supporting research aimed at using nonheritable gene editing to help people with life-threatening disorders, such as sickle cell disease, HIV infection, cancer and muscular dystrophy. Indeed, such applications may offer the best hope not only for treating, but for curing, many of the nearly 6,000 human genetic diseases that still lack treatments.

Now, scientists and leaders around the globe have an obligation to consider the appropriate use if any of heritable human gene editing. This involves scrutinizing the safety of such experiments, including the risk of unintended mutations, as well as a clear-eyed analysis of actual medical need. In our view, the current arguments that the benefits outweigh the risks are surprisingly uncompelling. But our deliberations should not stop there. We must weigh the profound social, ethical and moral issues associated with modifying the germline in ways that could change the human species forever.

Given the significance of these decisions, in March, leading scientists from seven countries led by Eric Lander and including CRISPR pioneers Feng Zhang and Emmanuelle Charpentier called for a five-year international moratorium on the use of gene editing to modify the human germline for clinical purposes. The NIH supports such a moratorium.

Despite the calls for caution, some researchers are forging ahead. In June, Russian molecular biologist Denis Rebrikov announced plans to implant gene-edited embryos into women. Like his Chinese counterpart, Rebrikov planned to use CRISPR to target the CCR5 gene to protect against HIV; he later changed course to focus on GJB2, a gene linked to heritable hearing loss.

Direct editing of embryos is not the only way to alter the human germline in heritable ways: In August, New York-based reproductive biologist Gianpiero Palermo went public with his plans to use CRISPR technology to target a gene that increases cancer risk in human sperm.

But such moves continued to meet vigorous opposition. In August, a number of research groups working on gene-editing therapeutics issued a statement asserting heritable gene editing is currently inappropriate for use in human clinical studies. That same month, a group of international research societies convened to discuss recommendations for appropriate research, which are slated for completion in spring of 2020.

Meanwhile, the World Health Organizations new expert advisory committee, convened in the wake of Hes experiments, sidestepped the issue of a moratorium at its August meeting. It did, however, establish a global registry to track all kinds of human gene-editing research and to offer consultation on governance of such technologies.

A moratorium of at least five years on heritable human gene editing would provide us time to engage in proactive, rather than reactive, discussions about the future of such technology. That discussion has to be inclusive of many societal perspectives. We must never allow our technology to eclipse our humanity. As an interconnected global society, we have a responsibility to ask ourselves some very hard questions about heritable gene editing and the dangers of human hubris. While difficult, this is a debate that we simply cannot afford to postpone.

Francis S. Collins is the director of the National Institutes of Health.

Read more from the original source:
NIH Director on Human Gene Editing: 'We Must Never Allow our Technology to Eclipse our Humanity' - Discover Magazine

Seattle Genetics' (NASDAQ:SGEN) shares soaredas much as 6% after the U.S. Food and Drug Administration approved its bladder cancer drug this month, and the stock now is heading for a total gain of more than 86% for 2019. The biotech company, which has a pipeline of candidate treatments for various cancers, now has a new product on the market and is optimistic about an investigational treatment that recently earned the FDA's "breakthrough" label.

IMAGE SOURCE: GETTY IMAGES.

Let's have a closer look at the two elements that could lift the shares in 2020, even after this year's spectacular performance.

Seattle Genetics announced the accelerated approvalof Padcev (generic name: enfortumab vedotin-ejfv) on Dec. 18 for the treatment of patients with locally advanced or metastatic urothelial cancer. It's the most common kind of bladdercancer, and develops in the cells lining the inside of the bladder. The approval is specifically for adult patients who have previously been treated with platinum-based chemotherapy and a PD-1 or PD-L1 inhibitor. PD-1 and PD-L1 are proteins in the body, and in some cases, they help cancer cells hide from an immune system attack. Inhibitors prevent this from happening. As for Padcev, it targetsthe Nectin-4 protein and leads to the destruction of cancer cells.

A key point in this approval news is that Padcev is the only FDA-approveddrug for this patient set, meaning that it will be an obvious choice and welcome option for many. Seattle Genetics has said about 2,000 to 4,000 new patients per year may be candidates for Padcev, but CEO Clay Siegall said it's difficult to forecast an exact patient population. However, according to GrandView Research, the global urothelial cancer drug market will reach $3.6 billion by 2023, with a compound annual growth rate of 23%. In the U.S., about80,000 new cases of bladder cancer are diagnosed per year, and about 90% of cases are of the urothelial type. So a foothold in this market is a definite growth opportunity for Seattle Genetics.

Seattle Genetics aims to submit tucatinib, its investigational treatment for HER2-positive breast cancer, to the FDA in the first quarter. That's a positive development, but even better is the fact that the FDA already grantedtucatinib breakthrough status based on data from a phase 3 clinical trial. Tucatinib was administered along with Roche'sHerceptin and another drug, and riskof death declined by 34%. The study also showed a 46% decline in risk of disease progression. HER2stands for a protein -- human epidermal growth factor receptor 2. In HER2-positive breast cancer, high levels of this protein within tumors lead to the spread of cancer cells. Tucatinib inhibits enzymes that activate this type of protein.

Breakthrough status is meant to expedite review and approval for treatments that address life-threatening illnesses, so if all goes well, Seattle Genetics could have a third drug on the market sooner rather than later. (The company also sells Adcetrisfor Hodgkin lymphoma.) The market for HER2-positive breast cancer is expected to increase by 54% from its 2015 level to $9.89 billion in 2025, according to GlobalData.

Padcev and tucatinib both address conditions where the need for new treatments is obvious. Though Seattle Genetics' earningshistory hasn't been great -- it missed its EPS forecasts in the past two quarters -- its recent product news offers investors reasons for optimism about revenue streams to come. A new drug on the market and high hopes for another approval are catalysts that should help its share price make healthy gains in the new year.

Excerpt from:
2 Things That Will Propel Seattle Genetics Stock Even Higher in 2020 - The Motley Fool

Nathan Anderson and two of his four sons, Griffin, 10, and Brennan, 4, have been diagnosed with a rare mutation on their Runx1 gene. Besides causing easy bruising, excessive bleeding and a tendency to develop hematomas, the mutation predisposes them to certain blood cancers. Wife and mother, Joy Anderson, has become an outspoken advocate for the condition and her family.

As Joy Anderson tucked her four boys into their beds one recent evening, she asked each of them to reflect on the difficult year the family has had.

Oldest son Griffin, 10, expressed anger and sadness, especially because he isnt allowed to play contact sports anymore.

Maxwell, 9, said hes worried about his siblings and parents.

Nolan, 8, said hes tried to be more compassionate, as you never know what someone is facing.

And then theres sweet-yet-rambunctious Brennan. At just 4 years old, he doesnt really understand whats been going on, only that hes had many doctors visits and needle pricks lately.

A little over a year ago, the Anderson family received news that rocked their world: Brennan had tested positive for the Runx1 gene mutation.

It was the third such blow for the family, who hails from Arlington, a village in Hancock County outside of Findlay, in just a few short months. Griffin first received the same diagnosis in August 2018, followed by their father, Nathan, in November that year and now Brennan.

Maxwell and Nolan, fortunately, do not share the mutation.

Its like a 50-50 chance of being passed down, Joy said. In that case, I felt like we were a living statistic.

But their situation is anything but routine: Only 120 individuals in the world have been diagnosed with the mutation.

Visible symptoms of the disease, which causes platelet abnormalities, include easy bruising, excessive bleeding and a tendency to develop hematomas. But the most distressing part is its predisposition (40% to 70%) to certain blood cancers.

I felt like I couldnt breathe, like I was having a panic attack, the 41-year-old mother said of the diagnoses. I tried to Google everything to learn more about it, and there isnt really much out there.

Three people she loves dearly half her family now must be followed regularly by a hematologist and undergo bone marrow biopsies annually to monitor for cancer.

Little did I know we would have such a domino effect after we all got tested, she said.

***

The Andersons had spent much of the first nine years of Griffins life trying to figure out what caused his bruising and the huge goose eggs that would form on his body.

Sure, he was an active boy, but with each small accident, his parents couldnt help notice the extreme results that sometimes landed him in the hospital to ensure his blood had clotted.

Doctors in Toledo offered a general diagnosis of low platelets and a blood disorder when Griffin was 3 and prescribed special medication to use during surgeries.

He began seeing various hematologists at Nationwide Childrens Hospital. However, the family still had few answers until a doctor suggested genetic testing in August 2018.

Thats when the Andersons met Elizabeth Varga, a genetic counselor at Childrens, who counseled them what results might yield.

Four weeks after Griffin had blood drawn for the genetic tests, Varga called to say they found something.

Runx1 is a gene involved in the making of blood cells. If there is an abnormality, it can impair the production of platelets, which help blood clot.

Patients are predisposed to something called myelodysplastic syndrome, which is essentially a pre-leukemia state that can evolve and change to be a cancer of the blood, Varga told the family.

Typically, thats acute myeloid leukemia, which is most common in adults over 60, but the Runx1 mutation increases the risk for AML in all ages.

So basically from the time of birth youre kind of set up to have that evolution, Varga said. However, not all patients that have a Runx1 abnormality will ever get cancer right now we dont have a great way to gauge who will and who wont.

To deliver this news to Joy was very difficult, said Varga, who has three young sons.

Each phone call, Joy said, felt like a sucker punch, as she struggled to learn what this would mean for their family.

***

In the days leading up to Griffin and Brennans first bone marrow biopsy in December 2018, the elder brother watched YouTube videos of the minor but uncomfortable procedure, which is the best way to monitor changes.

I was interested in it, the fifth grader said. I want to be an ER doctor when I grow up.

Joy and Nathan Anderson said its a bit of an odd blessing that two sons have the diagnosis as they dont have to be alone.

I usually tell Brennan to be brave and we can do it, Griffin said, adding that his youngest brothers silly antics calm his nerves.

The mutation presents differently in Griffin and Brennan. Both bruise easily, but its much more pronounced in Griffin.

Brennan has dealt with a slew of pulmonology issues asthma, seven bouts with pneumonia that may be linked with the gene mutation.

Discovered only 20 years ago, very little research has been done on the mutation, making it difficult to discern what symptoms are caused by it, said Katrin Ericson, executive director of the Runx1 Research Program, a California-based nonprofit group that funds research and provides patient support.

Earlier this year, Joy Anderson was the first patient family representative to speak at the organizations annual conference. Shes become very active in increasing awareness of the Runx1 mutation, which is underdiagnosed, Ericson said.

Based on epidemiological estimates, between 2,000 and 18,000 people in the United States could be living with it.

Ericson said the organization is thrilled that, in May, the National Institutes of Health launched the first longitudinal, natural history study of Runx1. The Andersons are one of 25 or so families participating, and they traveled to Bethesda, Maryland, in June for testing.

These patients have really been struggling with this most of their lives, Ericson said. They had no idea they had this mutation. Maybe they were misdiagnosed at first.

There can be guilt felt by parents for passing it unknowingly to their children, and Joy said her husband feels this way.

Nathan his parents tested negative never experienced symptoms, he said. However, looking back, routine blood work often showed low platelet counts.

Shortly after the diagnosis, I was at a charity event for work and I was chopping wood, Nathan said. I noticed that I had bruises up and down my arm.

During his first bone marrow biopsy at Ohio State Universitys Arthur G. James Cancer Hospital last December, doctors discovered he had myelodysplastic syndrome (MDS), or pre-leukemia. Hes unsure what this means for the future, except continued monitoring.

Nathan and his two sons will travel to the NIH in the summer for follow-up biopsies. (Griffin and Brennan had a second one in June with zero changes.)

The boys also have blood drawn every few months.

Our hope is if we do more frequent surveillance for MDS, that we will hopefully be able to be preemptive, Varga said. If we do see any progression, the only cure right now is a bone marrow transplant.

However, a bone marrow transplant which requires chemotherapy and a lifetime of immunity-suppressing drugs is a procedure that wouldnt be done without good reason, Varga said.

***

One of the biggest challenges of having a genetic disorder, Joy and Nathan agreed, is explaining it to others.

Some people think were dying and some think were getting chemotherapy, said Nathan, who has taken up running to cope with the diagnosis and keep himself healthy. Others think its not a big deal.

People have questioned the necessity of putting our kids through all this, Joy said. Others have said that everyone would find something wrong if they did genetic testing, she said.

Were trying to monitor and learn more, she said. Im all about being proactive. I feel like what if we never even did anything about it, and then one day this has progressed to leukemia and its so far into it, we cant do anything to help.

That attitude, Varga said, represents a shift shes detected.

Previous generations, there was much more of I dont want to know, Varga said. There was a fear of stigma or discrimination, but younger generations are more embracing (of) knowledge and being powerful.

***

For now though, the Anderson boys will continue to climb on top of their swing set and run in the field behind their house. Theyll fish and ride bikes and wrestle.

Theyre boys still, and we want them to live a normal life, Nathan said. We dont stop.

Griffin has recently fallen in love with playing drums and though his parents dont always appreciate the noise, theyre thankful Griffin has found an outlet other than sports.

The family is thankful for the power the knowledge of this diagnosis ultimately brings them, and with how strong it has shown the six of them to be.

Its a reminder of just how precious life is, Nathan said. You might live a long life or you might run into complications. Its a constant reminder to live every day to the fullest.

award@dispatch.com

@AllisonAWard

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Ohio family faces uncertainty as 2 sons, husband diagnosed with rare genetic disorder - The Columbus Dispatch

Genetic tests sold directly to consumers have been growing in popularity. And Im not just referring to the tests that show your ethnic ancestry, but also those that claim to identify genetic-based health risks. Experts warn that these tests should not be used to inform health decisions without further scrutiny, as the results of these tests can easily be misinterpreted or unreliable.

Business of Healthcare | December 27, 2019

Most genetic testing is done through healthcare providers such as physicians, nurse practitioners and genetic counselors. These providers determine which test is needed, order the test from a laboratory, collect and send the DNA sample, interpret the test results, and share the results with the patient.

Direct-to-consumer genetic testing is different. These tests can be bought online or in stores. Customers send the company a DNA sample and receive their results directly via a secure website or mailed report. Direct-to-consumer genetic testing provides access to genetic information without necessarily involving a healthcare provider.

Dozens of companies offer these tests for a variety of purposes. The most popular uncover genetic variations to make predictions about health, provide information about common traits, andyesoffer clues about a persons ancestry. While the number of companies providing direct-to-consumer genetic testing is growing, along with the range of health conditions and traits tested for, there is very little regulation of these services.

That means if you do use one of these tests to get genetic information about your health, dont make any decisions based on the results without talking to a medical professional.

Continued here:
Business of Health Care: Direct-to-Consumer Genetic Testing - KWBU

The 2010s were the decade in which we were reminded that science is just a method, like the rhythm method. And just like the rhythm method, it can be more or less rigorously applied, sabotaged, overrated, underrated and ignored. If you dont treat it with respect, you may not get the optimal result, but thats not the methods fault.

That may be where the similarities end, because when its done well, science is very effective, and this decade furnished its fair share of breakthroughs to make us gasp. Physicists detected phenomena that were predicted decades ago gravitational waves, the Higgs boson particle indicating that they have been on broadly the right track in their understanding of how the universe works. Astronomers added awe-inspiring detail. Nasa probes found towering ice mountains on Pluto and organic chemistry the stuff of life on Mars and a moon of Saturn. And who could forget the exoplanets those planets orbiting distant stars? Thousands of them were discovered in just the past 10 years. No wonder science fiction is booming.

Biologists didnt slack either. They honed an immunological defence mechanism found in bacteria, Crispr-Cas9, into a powerful gene-editing tool that works in plants and animals including humans. They added several new ancestors to the human family tree and discovered ghostly traces of others as yet unseen and unnamed. And very old DNA started giving up its secrets, after researchers succeeded in extracting it from ancient bodily remains and sequencing it. This threw open a huge window on our species past, revealing that every person alive today is the product of multiple migrations and that relations between different waves of migration have always been complicated. Neanderthals and modern humans probably clobbered each other, for example, but they also interbred.

But this was also the decade in which science was commandeered by all kinds of people with political, social and economic axes to grind. Ancient DNA researchers understood early on the potential for their discoveries to be politicised the science of human origins always has been but they still werent able to fully control the message. Thus we learned about white supremacists engaging in sinister milk-chugging parties in America, supposedly designed to smoke out people of non-European heritage who cant digest lactose, and baseless claims made by some Hindu nationalists that the speakers of the original Indo-European language hailed from the Indian subcontinent. Ancient DNA researchers themselves were accused of engaging in an undignified bone rush, and disrespecting indigenous remains.

Dissing the dead is one thing, dissing the living quite another. The world was shocked when, in 2018, the Chinese biophysicist He Jiankui announced he had used Crispr to edit the genomes of twin girls the first humans born with edited DNA they can pass on. Ethical concerns were raised over whos entitled to know what about private health records as genetic testing becomes mainstream, and over the prohibitive pricing of gene therapies after the first of these was approved in 2012 then taken off the market.

We welcomed the boon of artificial intelligence the fruit of massively increased computing power, cheap memory, advances in data management and new maths and statistics and fretted over its potential negative impact on us.

The first vaccine against Ebola was approved. In the Democratic Republic of the Congo, where Ebola continues to rage, health workers are battling not only the disease, but also hesitation about getting vaccinated. This is now a global problem, and though the reasons for it are complicated and vary according to who is hesitating in the UK and US Andrew Wakefield has a lot to answer for. He abused the scientific method in a previous decade, when he made false claims about a link between the MMR vaccine and autism. Fear of vaccines has come home to roost most visibly, in the form of a global resurgence of measles. Its not all down to him, though. Weve been so well served by vaccines that relatively few people alive today remember what life was like before them how, for example, people wept with joy when Jonas Salks polio vaccine was announced in 1955.

We heard a lot in this decade about how trust in experts has waned, but its difficult to know how much of that perception is real and how much of it comes down to minority opinions bellowed through the sousaphone of social media. In 2019, the US-based organisation Scholars at Risk reported that attacks on higher education communities had more than doubled globally over the previous three years ranging from restrictions on academic expression to wrongful imprisonment and even violence. On the other hand, surveys suggest that trust in scientists is quite stable over the long term, and science funding has been slowly increasing in the worlds richest countries.

Taken together, perhaps what these indicators reflect is that, like the rhythm method, the scientific method is one we should be glad to have in our armoury, but that both have the potential to wreak havoc in the context of a toxic relationship.

Laura Spinney is a science journalist based in Paris. Her latest book is Pale Rider: The Spanish Flu of 1918 and How it Changed the World

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Science made astonishing progress. It was also hijacked by those with an axe to grind - The Guardian

(BPT) - An estimated 130 million Americans make resolutions for 2020 with more than half of them focused on health. However, most resolutions are broken by February.

Marjan Champine, a board-certified and licensed genetic counselor at Ancestry, the global leader in family history and consumer genomics, shares tips for thinking about your health in 2020:

1. Small choices matter for a healthier you in the New Year.

Day in and day out, the small choices we make can end up making a big difference in how we feel and our overall health. The journey to better health can be as simple as to:

2. Talking to your family can unlock valuable insights into your health.

Understanding your familys health history and screening for common genetic conditions can provide information about some potential health risks. Armed with this information, there are powerful choices and actions you can take to improve your health, and your familys health, now and in the future.

You dont need to be alone in trying to make sense out of all of this. Genetic counselors can help you connect the dots of your family health history and the results of genetic health screening tests. Services like those offered by Ancestry, which recently launched AncestryHealth, can also empower you with genetic insights to put you on the path to a better, healthier you. When you and your health care provider know more about your risks for certain conditions, thats the start on the path toward better health.

3. Your genes dont need to be your destiny.

While genetics plays an important role in our health, the daily choices we make about our activity, sleep, nutrition and how we handle stress can also play a role in our quest for better health.

Because families share genetics as well as other health-related risk factors such as diet, lifestyle and environment family history is again important in this regard. Most people understand the health benefits of a good diet and exercise. But whats often overlooked is the importance of knowing your familys health history. By sharing your family health history in addition to any genetic health test results with your health care provider, you can work together to create a personalized plan of action to treat, manage and, in some cases, even prevent certain diseases.

4. Specific, achievable, actionable and enjoyable.

I am always looking for fun ways to improve my health. As part of that goal, my resolution this year is to spend more quality time with my family, share stories about our history and keep a record of our health history all in one place using AncestryHealths family health history tool.

If you havent made a New Years health resolution yet, think of a goal thats specific, actionable and achievable. Also think of goals that can be achieved in ways you enjoy.

5. The time is now.

Now is the perfect time to jump in and begin tackling your 2020 New Years health resolutions. Your family health history and genetic screening results could unlock important information that will allow you to manage your health.

The more you know about your genetic risk factors, including your family health history, the more you can take proactive steps, in collaboration with your health care provider. Taking this information and sharing it with your health care provider is important so that, together, you can create a personalized plan of action for a healthier 2020.

Marjan Champine is a board-certified and licensed genetic counselor at Ancestry with a passion for family, health and helping others.

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Resolving for a healthy 2020? Talking to your family is a great way to start - Eagle & Times