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Scientists say they have created the 'closest thing anyone has ever made' to a new life form

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DNA anlysis

  • Scientists say two new, laboratory-built ‘letters’ can survive harmoniously alongside the natural alphabet of DNA in a cell.
  • They hope this new artificial pair of amino acids will eventually help them invent drugs that last longer and work better.
  • Their results were published online in the journal Nature.  


Scientists have just built the first fully-functioning, artificial instruction system for creating new matter inside living cells — a find that could one day make it possible to create more precise, effective, and longer-lasting drugs.

The duo of synthetic ‘X’ and ‘Y’ bases, created at The Scripps Research Institute (TSRI) in California, can integrate seamlessly into the DNA of E. coli, and function inside of a living cell. These tiny amino acids are distinct from our own 'A-T' (adenine – thymine) and 'G-C' (guanine – cytosine) pairs — the amino acids that combine and form the basis for all genetic information in the natural world.

“I would not call this a new lifeform — but it’s the closest thing anyone has ever made,” TSRI Professor Floyd Romesberg, who led the research, wrote in a release.

He said it’s like our genetic "alphabet" only had four vowels, and now, we’ve added two more artificial letters into the mix — and with them, the ability to make whole new sounds and words that we would have never encountered in the natural world.

Romesberg told Business Insider that perhaps the most remarkable thing about the artificial X-Y pair is that it can co-exist alongside natural DNA pairs. And from the cellular level, they function just like those natural pairs: retrieving information and pumping out proteins — the materials we use for making new cells and building life.

The researchers hope this means that one day, the artificially-made amino acids could be used to create new kinds of targeted drugs for humans that have fewer side effects, work more effectively, or last longer. 

This is something Romesberg has been working on since 2014, when he co-founded biotechnology company Synthorx, which he created to engineer new kinds of drugs. Back then, his team was able to store X-Y pairs in a cell, but didn’t yet know how to retrieve the information inside them and create new proteins. After much trial and error, the team figured out how to do all that, pumping out artificial proteins that could be used to generate new drugs.

But the discovery is incremental. Because these new letters are synthetic, “the cell can't grow if we don't provide them,” Romesberg said. That's both good news and bad news. It makes the find less scary, because there’s no chance that these X’s and Y’s could escape the cell, going off and multiplying on their own outside.

But it also means the X's and Y's always have to be manufactured by scientists. So while these new letters might help us make some new genetic "words," they're not quite like natural life. 

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NOW WATCH: 40 years ago, NASA sent a message to aliens — here's what it says


This company adds human DNA to your tattoo ink so you can keep your loved ones extra close

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tattoo

  • Everence ink lets add a loved one's DNA into a new or existing tattoo
  • You can send in a sample of DNA and have it synthesized into a material that can be added to tattoo ink for $540.
  • The DNA doesn't have to be human, which is good news for pet lovers

Tattoos have gone through a lot of changes over the years. They’ve transitioned from a form of rebelling to a means of expression. And the actual process has changed, too. Methods are constantly improving, and the ink used is undergoing changes as well. The latest innovation in materials contains an unexpected ingredient: DNA.

The ink Everence lets you put a literal piece of someone into a new or existing tattoo. Starting at $540, you can send in a sample of a loved one’s DNA (whether that be from the inside of someone’s mouth, carbonized hair, or cremated ashes, etc.) and have it synthesized into a material that can then be added to any type of tattoo ink.

everence

It doesn’t even have to be human DNA, either — if you have a family pet you want to remember, you can send their DNA in, too. If that sounds a little iffy, don’t worry; it’s reportedly as safe as regular tattoo ink.

According to the New York Times, inventor of Everence and founder of Endeavor Life Sciences, which creates the product, Patrick Duffy wanted to find new ways to connect people and honor the ones that may no longer be with us.

Mixed ash and other organic materials into tattoos is nothing new, but those ingredients would eventually be absorbed into the body. But for Everence, DNA material is milled, sterilized and stuck into capsules of PMMA, AKA plexiglass, and because DNA is protected by the PMMA capsules, it will stick around and stay a part of you. That way you can literally carry your loved one with you wherever you go.

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NOW WATCH: Why Korean parents are having their kids get plastic surgery before college

A Chinese province is collecting DNA and iris scans from all its residents

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Xinjiang police

  • Authorities in one Chinese province are collecting DNA, iris scans, fingerprints and blood types from residents.
  • The biometric data collection appears to be mandatory.
  • This province also monitors residents with facial-recognition cameras, surveillance apps, and voice-recognition technology.


Authorities in the Chinese province of Xinjiang have begun collecting DNA and biometrics from all its residents, Human Rights Watch reported Wednesday.

All residents between 12 and 65 are having DNA samples, fingerprints, iris scans, and blood types collected.

Called The Population Registration Program, police will be collecting iris scans and fingerprints during home visits or by creating centralized collection points. Medical authorities will collect DNA samples and blood type information during yearly physicals that are then sent to police bureaus "for profiling."

Participation does not appear to be optional. One man told Human Rights Watch that local committee members "had demanded that they [people in his neighborhood] must participate in the physicals.”

Guidelines direct officials “to ensure that [information from] every household in every village, every person in every household, every item for every person” is collected.

It is also unclear whether locals getting examinations — under the program 'Physicals for All,' which ended in October — know their medical data is being collected.

“Xinjiang authorities should rename their physical exams project ‘Privacy Violations for All,’ as informed consent and real choice does not seem to be part of these programs,” Sophie Richardson, China director of Human Rights Watch, said. “The mandatory data-banking of a whole population’s biodata, including DNA, is a gross violation of international human rights norms, and it’s even more disturbing if it is done surreptitiously, under the guise of a free health care program.”

Xinjiang has a very different population to the rest of China

Uyghur men gather for a holiday meal during the Corban Festival on September 13, 2016 in Turpan County, in the far western Xinjiang province, China.

The demographics of Xinjiang are very different to the rest of China, and have led to strong government crackdowns.

Across China, 92% of residents are ethnic Hans. But in Xinjiang, 49% of its 20 million residents are ethnically Uyghurs, most of whom are Muslim.

Living in China's largest province with their own strong ethnic identity and language, Uyghur people face discrimination and a large share of government oversight to suppress any potential separatism.

Reports have emerged this year of men, women and children being detained at "political education" centers in Xinjiang, where they are forced to watch government propaganda videos and renounce their ethnic and religious identities.

Uyghurs are living in a surveillance state

n Uighur woman protests in front of policemen at a street on July 7, 2009 in Urumqi, the capital of Xinjiang Uighur autonomous region, China.

Government surveillance in Xinjiang is ubiquitous.

In the last year Xinjiang recruited more than 90,000 personnel for security positions. Nearly all of them will work at 7,500 "convenience police stations" dotted throughout the region.

Facial-recognition cameras are common and authorities have requested residents install surveillance apps on their phones.

In 2016 Xinjiang police bureaus began collecting residents' voice samples. This was likely an early step toward China's national voice database, that will be able to automatically identify targeted voices in phone conversations.

Also in 2016, several areas of Xinjiang announced that locals would need approval to travel overseas.

All passport holders had to report to local police stations where their passports would be held for "safekeeping." Once passports were handed over, those wanting to travel internationally would need to apply for " approval to leave the country."

SEE ALSO: Beijing is rapidly demolishing its own city, and 27,000 billboards are next

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NOW WATCH: Megyn Kelly: 'I regret a lot' of the controversial stuff I've said

What to keep in mind about your privacy when taking genetics tests like 23andMe or AncestryDNA

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Helix DNA 6

  • Taking a DNA test to learn about your ancestry or health can be fun, but it requires the transfer of sensitive information: your genetic data. 
  • When sending in your DNA sample, it's important to get a clear picture of who owns that information and who will be able to see it. 
  • Before taking any test, always read the terms of service. 

 

DNA tests can tell you where your family is from and what health conditions you might be predisposed to get. 

They've gained significant popularity in recent years — over Thanksgiving weekend alone, shoppers bought 1.5 million AncestryDNA kits. 

But the rise of consumer genetics tests has brought up a number of privacy concerns, since they deal with information that's fundamental and unique to every individual. Many consumers are wondering: When you spit into a tube and submit your sample for one of these reports, who has access to that information and who ultimately owns your DNA?

Senator Chuck Schumer raised the issue at a press conference in November, calling on the Federal Trade Commission to "take a serious look at this relatively new kind of service and ensure that these companies can have clear, fair privacy policies."

In a blog post published December 12, the FTC recommended reading the fine print. "If you’re thinking about buying an at-home DNA test kit, you owe it to yourself – and to family members who could be affected – to investigate the options thoroughly," it says.

James Hazel, a post-doctoral research fellow at Vanderbilt University's Center for Biomedical Ethics and Society, has been looking into the privacy policies of consumer genetics tests. He said the FTC's suggestion is very important. 

"We are good at clicking 'agree' and not reading the terms of service," he said.

When it comes to DNA tests, a lot of pertinent information hides in that fine print, including language about who owns your DNA, where your genetic information is going, and what the process of deleting your information from a database entails. 

I've tried ancestry tests from from 23andMeAncestry, and National Geographic (a test run through the Helix DNA test platform), so I checked in with all of them to see how they stack up in terms of privacy. 

Helix DNA 7

Who owns your DNA?

For starters, there's the question of who "owns" your DNA after you send in a spit sample. The 3 billion genetic building blocks, or base pairs, are what makes us who we are. 

"You’re granting us the rights to share information, but fundamentally you own your data," Elissa Levin, Helix's director of policy, told Business Insider. 

23andMe and Ancestry said the same thing — although the companies need some rights in order to analyze your sample and send results back, they don't have total ownership. They can't, say, bar you from taking another DNA test in the future. 

"We believe that you own your data," 23andMe privacy officer Kate Black told Business Insider. "So whoever's data this is is ultimately the owner of that information. However, we do need certain rights and privileges to process their sample and provide them with our services."

From there, it's a matter of how far those rights go.

Who gets to see your de-identified information? 

When providing a spit sample for a genetics test, your information can either be identified — that is, linked to your name — or de-identified. It's most common for the sample of spit you submit to be processed without your name on it.

While reading through your test's privacy policy, note who has access to both kinds of information. Based on the three companies I spoke with, the de-identified information mainly stays that way (you're assigned an identification number that only the companies can pair with your account).

In many cases, an external lab might be involved in sequencing the genetic data to pass back to the company. For example, 23andMe works with contracted labs in North Carolina and California. 

"The lab has some access but they don’t know who it relates to," Eric Heath, Ancestry's chief privacy officer, told Business Insider. spit tube with solution

Helix does the sequencing in its own lab, then sends some of that information to its test partners, such as National Geographic. Helix is trying to be like the "app store" for genetics, allowing you to submit your spit to them once, then use the sample for multiple tests based on what type of analysis interests you.  

"The information we share with them is only the relevant piece," Levin said. "For some partners it might be a few markers or it could be hundreds of genes." 

But there's a key caveat to keep in mind: Because your DNA is unique to you, it's can't be totally de-identified. 

"DNA is so unique, and there are so many data sources out there, that it is incredibly hard to fully anonymize — and more so to promise and provide any absolute guarantee that the data are anonymized," Laura Lyman Rodriguez, director of policy, communications, and education at the National Human Genome Research Institute, told the magazine Undark in 2016

How is the data that’s tied to your identifiable information used?

Your identifiable information includes any self-reported data and your name. 

With 23andMe, Black said, nobody has access to both your email and genetic information — only one or the other. The system that combines the two pieces to give you a report is automated, she said. 

The same goes for Ancestry. Heath said the personal identification and genetic data are "not commingled until we provide you with your results." 

Helix leaves the genetic information de-identified, and it's up to the partners to recombine the analysis with the person who submitted a sample. Because each partner has their own privacy policies, it's important to read those as well. 

The three companies we spoke with all said they've created safeguards so that even if there's a security breach, your genetic information and names aren't connected.23andMe kit

Can you opt out of giving research partners your genetic data? 

Another privacy concern is the possibility that your DNA could get shared with other companies without your consent. 

23andMe and Ancestry both have research partnerships with pharmaceutical companies that explore things like the genetics of aging, psychiatric disorders, or lupus.

Both companies require you to consent to sharing your information if you want to participate in those programs. Unless you agree, your information will remain with just 23andMe or Ancestry (and the contractors they work with to do the test). The same goes for connecting you with potential family members. 

Helix does not currently have research partnerships. Levin said if that changes, there would be a voluntary process users could opt into as well.

How to wipe your information after taking a test

After you've gotten your results back, your genetic data lives on with the company you sent it to, and likely in the tube of spit you submitted. If you're not comfortable with that, the vast majority of your data can be stricken from databases and storage facilities.

Things get a bit trickier if you consented to share your information with third-party researchers. In that case, you can usually stop information from being used in new projects, but anything previously shared will still be out there. 

Before taking any of these tests, it's best to learn about the process of deleting an account, and find out whether your sample will be stored indefinitely. 

23andMe

When you register your test with 23andMe, you can opt to either have your sample stored or discarded after use.

To close your 23andMe account, search through the help center for a page titled "Requesting Account Closure." On that page are links to submit a request or email customer service (customercare@23andme.com). 

If you opt to have your spit sample stored but later change your mind, an option in the settings section of your report allows you to discard the sample.

 

how to discard spit sample 23andme

However, there are a few places your information may continue to live. Under the regulatory standards that apply to clinical labs, Black said, 23andMe has to retain the bare lab test result for 10 years.

Ancestry

Ancestry stores your spit sample so it can be used for quality purposes, such as making sure the lab is running as it's supposed to and the testing is accurate. That also allows the company to update your results if more accurate sequencing technology comes onto the scene. 

To delete your DNA results on Ancestry, go to the DNA section at the top of the page — your test settings include a way to delete your results.  If you want to remove your spit sample completely, you need to call Ancestry's member services

delete via ancestry

Helix

Helix also stores your spit sample. To get rid of that spit sample, you can fill out a request with customer services. Helix alludes to retaining data for regulatory purposes in its privacy section, however.

In the settings of your Helix account, there steps for how to close an account. Doing that would cut off the flow of data to Helix's partners, Levin said. 

"Even if you had previously consented to share info with National Geographic, closing would close out the data-stream," she said.

Read the full privacy documents

For more information, here are the privacy pages and terms of service documents for the three tests described above:

SEE ALSO: I've taken AncestryDNA, 23andMe, and National Geographic genetics tests — here's how to choose one to try

Join the conversation about this story »

NOW WATCH: These are the 3 dogs with the most health problems

Alcohol can damage your DNA and increase cancer risk, according to new research

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man drinking cocktail alcohol

  • The body produces the chemical acetaldehyde when it processes alcohol. 
  • Acetaldehyde can break or damage DNA in blood stem cells — and when healthy stem cells break down, it can give way for cancer cells to develop.
  • The body does have enzymes that can protect against this damage — called aldehyde dehydrogenases — but sometimes these fail to work. 


LONDON (Reuters) - Drinking alcohol produces a harmful chemical in the body which can lead to permanent genetic damage in the DNA of stem cells, increasing the risk of cancer developing, according to research published on Wednesday.

Working with mice in a laboratory, British scientists used chromosome analysis and DNA sequencing to examine the genetic damage caused by acetaldehyde, a harmful chemical produced when the body processes alcohol.

Their findings offered more detail about how alcohol increases the risk of developing 7 types of cancer, including common forms such as breast and bowel cancer. It also showed how the body seeks to defend against the damage alcohol can do.

"Some cancers develop due to DNA damage in stem cells. While some damage occurs by chance, our findings suggest that drinking alcohol can increase the risk of this damage," said Ketan Patel, a professor at the Medical Research Council Laboratory of Molecular Biology, who co-led the study.

The World Health Organization's International Agency for Research on Cancer classifies alcohol as a Group 1 carcinogen, citing "convincing evidence" it causes cancer in humans.

A study published in 2011 found that alcohol is responsible for around 4 percent of all cancer in Britain — equating to around 12,800 cases a year.

In Wednesday's study, published in the journal Nature, Patel's team gave diluted alcohol to mice and then analyzed the effect on the animals' DNA. They found that acetaldehyde can break and damage DNA within blood stem cells, permanently altering the DNA sequences within these cells.

This is important, Patel said, because when healthy stem cells become faulty, they can give rise to cancerous cells.

The researchers also looked at how the body tries to protect itself against damage caused by alcohol. The first line of defense is a group of enzymes called aldehyde dehydrogenases or ALDHs, Patel explained. These break down the acetaldehyde into acetate, which cells can then use as a source of energy.

In the study, when mice lacking a critical ALDH enzyme were given alcohol, their DNA suffered four times as damage compared with mice with a properly functioning version of the enzyme.

Patel said cells also have a second line of defense in the form of a range of DNA repair systems which, most of the time, allow them to fix and reverse different types of DNA damage.

But in some instances and in some people — particularly people from South East Asia — the repair systems fail to work, meaning their cells are unable to repair effectively.

"It's important to remember that alcohol clearance and DNA repair systems are not perfect, and alcohol can still cause cancer in different ways — even in people whose defense mechanisms are intact," Patel said.

 

(Reporting by Kate Kelland Editing by Jeremy Gaunt)

SEE ALSO: The first gene therapy approved to treat blindness has a price tag of $850,000

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DIGITAL HEALTH BRIEFING: Genome Medical launches genetic services for employers — Microsoft working on sequencing the immune system — Fitbit investment points to glucose monitoring

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Welcome to Digital Health Briefing, a new email providing the latest news, data, and insight on how digital technology is disrupting the healthcare ecosystem, produced by BI Intelligence.

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Have feedback? We'd like to hear from you. Write me at: aaouad@businessinsider.com


GENOME MEDICAL LAUNCHES GENETIC SERVICES FOR EMPLOYERS: Genome Medical, a San Francisco-based genomics firm, introduced several programs designed to enable employer groups to offer genetic services and testing to their employees. By leveraging its national network of clinical genetic experts — the firm offers genetic counseling in all 50 states — Genome Medical will give employers the resources to help improve the health and well-being of their employees, and potentially a more efficient way to manage any costs related to healthcare. Here are the new programs they are offering:

  • Genetic Medical Services: Genome Medical offers genetic counseling, genetic test ordering, and case management services to help identify and evaluate individuals at risk for inherited diseases or conditions. 
  • Proactive Health Programs: By using family history assessments and proactive genetic screening services, individuals with specific genetic markers are provided with early knowledge of risk, leading to preventive care and more informed treatment decisions. For example, an individual's response to anesthesia and other medications could be predicted by analyzing their genes, reducing the likelihood of a complication.  
  • Genome Medical Second Opinion: Employees can get a second opinion on any genetic-related diagnosis or treatment plan from physicians in Genome Medical's network. These physicians can provide expert knowledge on genetic testing, advise on a patient's best course of action, and make referrals. 
  • Genetics Resource Center: Via interactive tools, which include messaging services and a telehealth platform, users can ask questions and seek out options across a larger number of genetic topics and conditions.

Genetic testing is poised to take off as physicians are finding new and more accurate ways to provide care. Just from analyzing a patient's genetics, healthcare providers are starting to be able to provide patients with preemptive care for potential conditions. As advancements in technology enable the healthcare industry to get a clearer picture of the role genetics plays in health and disease, the genetic testing market will take off — the global genetic testing market is expected to grow at a compound annual growth rate (CAGR) of 9.9%, from $4.6 billion in 2016 to $9.8 billion by 2025, according to Inkwood Research.

MICROSOFT'S AI-DRIVEN PROJECT TO CREATE A UNIVERSAL BLOOD TEST: Microsoft has partnered with biotech company Adaptive Biotechnologies to build a universal blood test that is capable of screening for dozens of diseases at once. The project aims to sequence the immune system, which would enable providers to identify infections, cancers, and autoimmune disorders at their earliest stages, from a simple blood test. A project as vast as this will require massive cloud computing power, expertise in AI technologies, and strong machine learning capabilities, which Microsoft will provide as part of this deal. Microsoft's investment has not been disclosed, but the project is the "cornerstone" of its Healthcare NExT initiative, which was launched last year to accelerate innovation in the healthcare industry by using advancements in artificial intelligence and cloud computing. 

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FITBIT INVESTMENT COULD POINT TO GLUCOSE MONITORING: Fitness tracker company Fitbit has invested $6 million in Sano, a company that’s developing blood sugar-monitoring patches, in a move that could point toward the addition of glucose monitoring to the company’s wearables and smartwatches, according to CNBC. The possible addition of glucose monitoring — which people with diabetes need to track regularly — could open up a new market for the wearable manufacturer as it looks to boost flagging device sales. While the company has sought to appeal to the general consumer with its Ionic smartwatch, it’s also partnered with health systems and insurers as a way to buoy demand, with insurers offering discounts or rewards for using the fitness trackers. Further, the company allows users to integrate data from third-party diabetes management solutions into a wellness tracking app. But moving to directly integrate diabetes management into its devices could give Fitbit a major opportunity for growth; there are over 29 million adults in the US alone with Type 2 diabetes who could potentially use such a device to monitor their disease. Apple — Fitbit’s main competitor in the wearables space — has reportedly been looking pioneer noninvasive glucose monitoring.

Fitbit shipments and revenue

INTOUCH HEALTH ACQUIRES TRUCLINIC FOR ITS DIRECT TO CONSUMER SOFTWARE: InTouch Health, a provider of an enterprise telehealth platform, has entered into an agreement to acquire TruClinic, a direct-to-consumer web-based health provider. This acquisition will allow InTouch to integrate TruClinic's software into its own offerings, enabling patients to initiate and receive consultations with their physicians from home. This combined solution will also let hospitals choose if they want to use their own doctors or InTouch’s network of contracted physicians to offer virtual care. Direct-to-consumer telehealth solutions appear to be gaining in popularity. For example, New York-Presbyterian (NYP) and Walgreens recently announced they were working to virtually connect Walgreens customers with NYP physicians at self-service kiosks, and CVS is testing a virtual care service in Ohio with the Cleveland Clinic. As more patients are exposed to these convenient solutions, the market could see rapid growth — the global telehealth market is expected to grow as an annualized rate of 27% between 2016 and 2021 to reach $9.4 billion, according to Markets and Markets.

In other news…

  • Matternet, a drone startup, and the Stanford Blood Center have applied to take part in a Federal Aviation Administration trial using drones to transport blood from the center to a hospital, according to the Mercury News. The proposed project, which mirrors similar programs implemented by Matternet as well as Zipline in other parts of the world, could cut down the time needed to transport blood for a transfusion or testing.
  • The Mayo Clinic and Corindus Vascular Robotics are exploring whether robotic-assisted coronary procedures can be conducted safely and effectively off-site, according to MobiHealthNews. 

Join the conversation about this story »

The 11,500-year-old skeleton of a baby girl offers clues on how the Americas first came to be populated

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ancient beringians

  • The remains of a baby girl buried roughly 11,500 years ago is providing genomic evidence of an ancient population previously unknown to science.
  • She was part of a population researchers have named "Ancient Beringians."
  • The findings give some insight into how the Americas first came to be populated.


A six-week old infant who died some 11,500 years ago in central Alaska is now providing clues about how the Americas first came to be populated.

Genomic data from remains of the girl – named "Xach'itee'aanenh T'eede Gaay" (Sunrise Girl-Child) by the local indigenous community –  broadly support a migration model that scientists have long argued for, while also revealing the existence of an ancient population previously unknown to science.

"We've said for decades that the first Americans came from Northeast Asia to the Americas during the late Pleistocene, but the empirical evidence for that has not been at our fingertips as it is now," says Ted Goebel, an anthropologist at Texas A&M University in College Station, who was not involved with the study. "To finally start to see the genomic evidence come forth to help us test these theories we've developed based on stone tools is really cool."

The girl was a member of an ancient population that the report authors have named "Ancient Beringians." Beringia is the name given to Alaska, Eastern Siberia, and the land bridge that periodically connected the two during the last ice age.

The findings suggest a revised family tree: a single ancestral Native American group split from East Asians about 35,000 years ago, before later splitting, some 20,000 years ago, into two distinct groups. One was the Ancient Beringians, and the other constituted the ancestors of modern-day Native Americans, who later split into northern and southern populations about 15,700 years ago.

"Trying to integrate these findings with what we know from archaeology and paleoecology presents exciting new puzzles," says Ben Potter, an anthropologist at the University of Alaska in Fairbanks and one of the lead authors of the study, which was published Jan. 3 in the journal Nature. He first discovered the archaeological site in 2006 and has been working there ever since. "The peopling has been shown now to be more complex than we thought previously."

Population splits and migration routes

Fig 2 popsplitsScientists have sought ancient human remains from Beringia at the end of the last ice age, says Victor Moreno-Mayar, a geneticist at the Centre for GeoGenetics at the University of Copenhagen's Natural History Museum of Denmark, who conducted much of the genetics work for the study. The discovery of three individuals, one of them cremated, fulfilled this wish.

But Xach'itee'aanenh T'eede Gaay's genome held a surprise: it was clearly Native American, but not from either of the two major modern Native American groups. "It represented a population that diverged from that common ancestor," says Dr. Moreno-Mayar.

All of this helps narrow down and strengthen the theories of just how those populations arrived in the Americas. It also lends support to the so-called "Beringian standstill" hypothesis, which posits that there was a period of time in which a genetic isolation of ancestral Native Americans occurred before they migrated south, either in Beringia or in Northeast Asia.

But mysteries remain, including definitive answers about where and when some of these population splits occurred and which migration routes were used.

In their paper, the authors outline two possible models. In one scenario, which Dr. Potter favors since it matches well with archaeological data and paleoecological data, the split occurred in Northeast Asia, and the two separate populations later crossed over the land bridge prior to 15,700 years ago, when the Native American ancestors split again. With the ice age still at its maximum around 20,000 years ago, Potter notes that any further migration would have been difficult.

In the other theory, the ancestral population had already arrived in Alaska or eastern Beringia by 20,000 years ago, and the split occurred there, with the second split into North and South American populations occurring south of the ice sheets.

What happened to the Ancient Beringians? They might have died out, says Potter, or they could have been absorbed by Northern Native Americans who migrated back to the far North.

Dr. Goebel likens the puzzle to a murder mystery. "You read the book, and the author divulges new clues over the course of the book," he says. "Every time a new genome is analyzed and reported, it provides a new clue that's making the pathway to uncover the real story that much clearer."

SEE ALSO: NASA's $1 billion Jupiter probe has taken mind-bending new photos of the gas giant

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NOW WATCH: Here's how the map of the United States has changed in 200 years

The Y chromosome is slowly disappearing — here's what it means for men

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GettyImages 50970192

  • The male Y chromosome is progressively degenerating. 
  • Studies have shown that the chromosome is undergoing a structural rearrangement in order to slow the effects of decline. 
  • In the future, genetic engineering may be able to replace the gene function of the Y chromosome. 


The Y chromosome may be a symbol of masculinity, but it is becoming increasingly clear that it is anything but strong and enduring. Although it carries the "master switch" gene, SRY, that determines whether an embryo will develop as male (XY) or female (XX), it contains very few other genes and is the only chromosome not necessary for life. Women, after all, manage just fine without one.

What’s more, the Y chromosome has degenerated rapidly, leaving females with two perfectly normal X chromosomes, but males with an X and a shriveled Y. If the same rate of degeneration continues, the Y chromosome has just 4.6m years left before it disappears completely. This may sound like a long time, but it isn’t when you consider that life has existed on Earth for 3.5 billion years.

The Y chromosome hasn’t always been like this. If we rewind the clock to 166 million years ago, to the very first mammals, the story was completely different. The early "proto-Y" chromosome was originally the same size as the X chromosome and contained all the same genes. However, Y chromosomes have a fundamental flaw. Unlike all other chromosomes, which we have two copies of in each of our cells, Y chromosomes are only ever present as a single copy, passed from fathers to their sons.

This means that genes on the Y chromosome cannot undergo genetic recombination, the "shuffling" of genes that occurs in each generation which helps to eliminate damaging gene mutations. Deprived of the benefits of recombination, Y chromosomal genes degenerate over time and are eventually lost from the genome.

Despite this, recent research has shown that the Y chromosome has developed some pretty convincing mechanisms to "put the brakes on", slowing the rate of gene loss to a possible standstill.

For example, a recent Danish study, published in PLoS Genetics, sequenced portions of the Y chromosome from 62 different men and found that it is prone to large scale structural rearrangements allowing "gene amplification"— the acquisition of multiple copies of genes that promote healthy sperm function and mitigate gene loss.

The study also showed that the Y chromosome has developed unusual structures called "palindromes" (DNA sequences that read the same forwards as backwards — like the word "kayak"), which protect it from further degradation. They recorded a high rate of "gene conversion events" within the palindromic sequences on the Y chromosome — this is basically a "copy and paste" process that allows damaged genes to be repaired using an undamaged back-up copy as a template.

Looking to other species (Y chromosomes exist in mammals and some other species), a growing body of evidence indicates that Y-chromosome gene amplification is a general principle across the board. These amplified genes play critical roles in sperm production and (at least in rodents) in regulating offspring sex ratio. Writing in Molecular Biology and Evolution recently, researchers give evidence that this increase in gene copy number in mice is a result of natural selection.

On the question of whether the Y chromosome will actually disappear, the scientific community, like the UK at the moment, is currently divided into the "leavers" and the "remainers". The latter group argues that its defence mechanisms do a great job and have rescued the Y chromosome. But the leavers say that all they are doing is allowing the Y chromosome to cling on by its fingernails, before eventually dropping off the cliff. The debate therefore continues

A leading proponent of the leave argument, Jenny Graves from La Tr obe University in Australia, claims that, if you take a long-term perspective, the Y chromosomes are inevitably doomed — even if they sometimes hold on a bit longer than expected. In a 2016 paper, she points out that Japanese spiny rats and mole voles have lost their Y chromosomes entirely — and argues that the processes of genes being lost or created on the Y chromosome inevitably lead to fertility problems. This in turn can ultimately drive the formation of entirely new species.

The demise of men?

As we argue in a chapter in a new e-book, even if the Y chromosome in humans does disappear, it does not necessarily mean that males themselves are on their way out. Even in the species that have actually lost their Y chromosomes completely, males and females are both still necessary for reproduction.

In these cases, the SRY "master switch" gene that determines genetic maleness has moved to a different chromosome, meaning that these species produce males without needing a Y chromosome. However, the new sex-determining chromosome — the one that SRY moves on to — should then start the process of degeneration all over again due to the same lack of recombination that doomed their previous Y chromosome.

However, the interesting thing about humans is that while the Y chromosome is needed for normal human reproduction, many of the genes it carries are not necessary if you use assisted reproduction techniques. This means that genetic engineering may soon be able to replace the gene function of the Y chromosome, allowing same-sex female couples or infertile men to conceive. However, even if it became possible for everybody to conceive in this way, it seems highly unlikely that fertile humans would just stop reproducing naturally.

Although this is an interesting and hotly debated area of genetic research, there is little need to worry. We don’t even know whether the Y chromosome will disappear at all. And, as we’ve shown, even if it does, we will most likely continue to need men so that normal reproduction can continue.

Indeed, the prospect of a "farm animal" type system where a few "lucky" males are selected to father the majority of our children is certainly not on the horizon. In any event, there will be far more pressing concerns over the next 4.6m years.

SEE ALSO: Scientists have discovered a new type of wolf for the first time in 150 years

Join the conversation about this story »

NOW WATCH: This 90-second animation will change your perception of the human body


The best at-home DNA kits to help you learn about your health and heritage

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The Insider Picks team writes about stuff we think you'll like. Business Insider has affiliate partnerships, so we get a share of the revenue from your purchase.

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The Insider Pick:

  • Your DNA holds the story of your lineage as well as a wealth of information about your body in terms of fitness, aging, health, and more. The AncestryDNA Genetic Testing Kit is the best DNA testing kit you can buy because it compares your DNA to 165 worldwide regions, helping you create an amazingly accurate picture of your heritage.

Your DNA, short for deoxyribonucleic acid, carries the entire story of your natural past, present, and even your future. It is the very substance of every part of your body, and it is the result of thousands of generations of reproduction and countless instances of mutation. The expression of the genes in your DNA makes you who you are, determining everything from eye color and height to which diseases you might easily defeat and which you need to watch out for. The study of your DNA can also provide a remarkably accurate portrait of your heritage, linking you to pockets of humanity that existed many thousands of years ago in far-flung corners of the world.

Did your ancestors cross the Bering Strait Land Bridge? Do you have some Neanderthal DNA in your makeup? Did your great-great-something sail the Pacific atop an outrigger? These questions and many more can be answered through the use of a DNA kit, and all it takes is a bit of saliva. 

Learning about your genetic ancestry can be both amusing and informative, but DNA test kits can also provide actionable information. With the right kit, you can analyze your results to better understand how your body responds to everything from sugars and alcohol to caffeine, or you can create a customized fitness and dietary regimen based off your own DNA. Studying your genes can also help you learn what illnesses you might be susceptible to developing, helping you live a lifestyle that minimizes the chances of their occurrence or at least helping you mitigate symptoms and effects should the condition arise.

We have included DNA test kits that are primarily aimed at studying ancestry alongside those geared toward health and wellness. We have a kit principally intended to determine paternity and we have one that's perfect for the armchair ethnographer. But all the home DNA test kits on our list share a few things in common: They are easy to use, they're reliable, and each will shed new light on that stuff that makes you ... you.

Read on in the slides below to learn why the AncestryDNA Genetic Testing Kit is our top pick for the best DNA testing kit, and why you should also consider the Helix DNA DNAFit Test Kit, the 23andMe DNA Ancestry + Health Kit, the MyHeritage DNA Test Kit, and the Rapid DNA Testing Paternity DNA Test Kit.

SEE ALSO: I've taken AncestryDNA, 23andMe, and National Geographic genetics tests — here's how to choose one to try

The best DNA testing kit overall

Why you'll love it: The AncestryDNA Genetic Testing Kit traces your ethnic mix from 165 global populations, creating a portrait of your lineage that is thorough and precise.

Forget about poring over pages of personal records or scanning the microfiche at the local library. When it comes to putting together your family tree, it's what's in your genes that really counts. While talking to relatives or studying marriage licenses and birth certificates can probably help you trace your personal history back a few generations and might give you a semi-accurate sense of your ethnic heritage, the AncestryDNA Genetic Testing Kit can link you to no fewer than 165 distinct world populations, creating a precise portrait of your makeup.

Learning about your ethnic heritage is fascinating and fun, and it can even help you understand certain issues that might impact your future, informing you of health conditions to which you might be susceptible. But when you use the AncestryDNA Genetic Testing Kit, the results actually extend beyond you and those chromosomes of yours.

At the time of writing, more than six million people have used this kit, and everyone who submits their results has the option of seeing which other users closely match their genetic makeup.

Thus using the AncestryDNA Genetic Testing Kit might reveal the existence of a long-lost aunt, cousin, or even a sibling. Your family is almost surely larger than you know, and a DNA testing kit might just be the perfect way to find someone out there with the same genetic history as you.

Thousands of people have used the AncestryDNA Genetic Testing Kit to find out all about relatives past and present. One lady reported a moving story that, having been adopted, the kit "helped [her] find her sister" after "25 years of dreaming about doing so." Another user called this kit "the only test you need" due to its thorough results.

Business Insider tried the kit and we highly recommend it to anyone who is curious about their ancestry. A writer with PCMag called the kit "an easy-to-use tool for exploring your background" that helped you "find relatives." A Smarter Hobby review said the AncestryDNA Genetic Testing Kit had the "most extensive database of DNA results" among comparable kits.

Pros: Surveys extensive population, helps link users with relatives, easy to use

Cons: Full results require subscription

Buy the AncestryDNA Genetic testing Kit from Ancestry for $79

Buy the AncestryDNA Genetic Testing Kit on Amazon for $79



The best fitness-oriented DNA test kit

Why you'll love it: The Helix DNA DNAFit Test Kit lends insight into how your body processes vitamins and nutrients to help improve your fitness, weight, and health.

If you are committed to living a healthy life in which exercise and proper diet play leading roles, then you owe it to yourself to invest in the Helix DNA DNAFit Test Kit.

First, to be clear, I don't use the word "invest" flippantly: This kit costs $300, which is more than three times the price of the next most expensive kit on our list (and four times the cost of the least pricey). But it is also a unique DNA testing system that gives you a host of results pinpointing all sorts of fitness and dietary metrics that will allow you to take full control of your exercise regimen, weight management, nutrition needs, and general lifestyle writ large.

Using the Helix DNA DNAFit Test Kit will help you learn if your body is predisposed to get great results from high-intensity cardio workouts or if lower intensity, prolonged aerobic exercise suits you best. It will reveal if you might be predisposed to muscular injury and thus should take extra precautions during training. It can inform you about ideal post-exercise recovery practices for your body. If you are already an exercise enthusiast, then why not bring science into your workout routine and make the most of every pushup, sprint, cycling trip, or circuit training session?

On the dietary front, the Helix DNA DNAFit Test Kit may well change the way you eat, in the process helping you maintain an ideal weight, enjoy more energy, avoid intestinal issues, and live an overall healthier life. The testing can reveal carbohydrate sensitivities, an increased need for omega-3 acids or anti-oxidants, or show a predisposition for storing saturated fats, to name just a few of the many factors it reports.

A customer named Matcha called this kit ideal for "anyone serious about fitness and nutrition," saying provides "in-depth information about how your body is wired to metabolize nutrients." Another user was more succinct, saying the Helix DNA DNAFit Test Kit "helps you achieve your goals."

An article from Wired said that the Helix DNA DNAFit Test Kit might be able to help you "live an optimally healthy life" so long as the results are used in conjunction with a good diet and plenty of exercise.

Pros: Gives detailed information on diet and fitness predispositions, helps you avoid foods and practices that may cause harm

Cons: Very expensive option

Buy the Helix DNA DNAFit Test Kit on Amazon for $299.99



The best health risk predictor DNA kit

Why you'll love it: The 23andMe DNA Ancestry + Health Kit tells you which illnesses you're predisposed to get and give you a full look at your ancestry.

First, just to make sure you understand the full costs, if you want to get a comprehensive genetic health report using the 23andMe DNA Ancestry + Health Kit, you will need to buy the $159 kit.

Knowing what diseases you are predisposed to develop can help you live a lifestyle that will help lessen the chances of their appearance and/or help prepare your body fight back. The kit can also tell you which genes you are carrying that might pass on diseases or other genetic traits that could cause issues, helping you in your family planning. 

Even the basic $79 23andMe DNA Ancestry Kit still gives you lots of interesting and amusing ancestry data. You can also upgrade it if you do decide that you want the health analysis, too.

Spit one gob of saliva into its tube, and you can learn how much Neanderthal DNA you inherited and you can compare your genetic makeup to a few dozen world populations alive today. And when you and a family member each use a 23andMe DNA Ancestry Kit, you can see how much DNA you have in common or how much you differ based on genetics inherited from shared ancestors.

With nearly a thousand reviews posted on Amazon, the 23andMe DNA Ancestry Kit has a decent 3.9-star average. One gene tester called it an easy-to-use kit that shared great insights into her genetic ancestry, though several others had complaints about customer service issues.

A reporter for Business Insider tried the test and found it very interesting and helpful. An Insider Picks writer gave it to a friend to test and came away impressed by all the information that was gleaned from the test.

 A TopTenReviews.com write-up noted that the kit was unique in providing information on "Neanderthal ancestry and traits." A Wirecutter review said that the basic 23andMe kit was lower priced than many, but also mentioned that a disproportionate amount of the company's "reference population database" was Euro-centric.

Pros: Great access to information on medical issues, includes data on Neanderthal ancestry

Cons: Additional costs for health info, customer service complaints

Buy the 23andMe DNA Ancestry Kit on Amazon for $79 (ancestry only) 

Buy the 23andMe DNA Ancestry + Health Kit on Amazon for $159 (ancestry and health)



See the rest of the story at Business Insider

Scientists just got a step closer to treating incurable diseases using a revolutionary gene-editing tool

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CRISPR

  • Researchers using the genetic-editing technology CRISPR have successfully modified the DNA in cells from Huntington's disease patients.
  • The feat shows it might be possible to to use CRISPR to treat Huntington's, which is currently incurable and fatal.
  • CRISPR is a way to edit DNA cheaply and efficiently; researchers think it could transform the ways we treat any sort of genetic condition.
  • But before CRISPR can be used to edit the DNA of living humans, scientists say it needs to be made safer and more efficient.


In people with Huntington's disease, the nerve cells of the brain start to break down over time.

The disease is fatal, often within 10 to 30 years, and as of now, there is no cure.

But Huntington's disease is caused by a single genetic mutation— it's triggered by an inherited gene, making it something researchers call a Mendelian disorder. Because of that, it's a prime target for scientists working with technologies that edit specific parts of genetic code.

In a recent study, scientists took a step toward using what's often referred to as the most revolutionary genetic technology in existence, CRISPR, to tweak the genes that cause Huntington's.

In people with the disease, due to a certain repeated section of genetic code, a toxic protein gets produced that accumulates and causes neurodegeneration. Usually symptoms begin to appear when patients are in their 30s or 40s. People start having trouble controlling movements and balancing, which is followed by difficulties with speech and swallowing as well as cognitive problems. 

But a group of researchers from Poland were successfully able to edit cells from Huntington's patients. The team took cells from those patients, and used CRISPR to slice and inactivate disease-causing sections of DNA. That drastically reduced the amount of neurodegenerative proteins produced — by approximately 70%.

"Our strategy is safe and efficient, and no sequence-specific side effects were observed," Dr. Marta Olejniczak, an associate professor at the Institute of Bioorganic Chemistry in Poland who led the study, said in a news release.

Getting to the point when we can safely and accurately edit genes to treat Huntington's disease with CRISPR would be a huge deal. Not only could this enable researchers to treat what has long been considered an incurable disease, it may also indicate that other Mendelian disorders like sickle-cell anemia, Tay-Sachs disease, and cystic fibrosis could be effectively treated with similar CRISPR techniques.

Demonstrating effective use without side effects is a big step in getting there. But showing that a method works safely in cells is many steps away from using a treatment in humans.

The promise of CRISPR

CRISPR is essentially a cheap and easy way to edit DNA.

The tool involves a small group of molecules that uses RNA to find a specific section of DNA that it can tweak. It can cut a section out, add in new genetic material, or even replace an undesired section with new genetic code — a biological "find-and-replace" operation for genetic code.

Jennifer Doudna, a biologist at the University of California at Berkeley, is credited as one of the first researchers to discover CRISPR.

"We're basically able to have a molecular scalpel for genomes," she previously told Business Insider. "All the technologies in the past were sort of like sledgehammers."

If the tool proves successful in people, it might be possible to do far more than address genetic disorders. Scientists could change genes to reduce risk factors for other diseases and potentially even improve human health in other ways.

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Treating Huntington's — and then more diseases

As the researchers wrote in the new study, prior studies have used other genetic editing tools to prove it was possible to remove the segment of genetic code that's responsible for Huntington's. Unfortunately, doing so created new complications, especially when genetic editing tools sliced both of the connected strands of DNA.

Editing genetic code with CRISPR can lead to unintended consequences, too. Researchers have been able to successfully make desired edits by delivering a package of CRISPR molecules to cells, but sometimes these packages have only made some of those edits, not all. Other times, the tool has made too many undesired off-target tweaks, which could be dangerous.

In this particular study, the research team overcame these obstacles by using a specific CRISPR package designed to avoid off-target effects. (There are many different collections of molecules that can form different CRISPR tools.)

The Polish team used what's known as a CRISPR Cas9 nickase. Instead of slicing both strands of the DNA double helix (something that can result in new undesired mutations), the nickase just slices one of the strands, which the study authors wrote can make for a much more precise edit.

At least in the cells they tested, that approach worked. 

However, researchers say they'll still need to make this method more precise and better understand it before it could be tried in people. For now at least, there's still a lot we don't know about how modifying the genetic code affects patients.

But making modifications without causing off-target effects is an exciting, important step toward eventually using  CRISPR to help people. Researchers think it could even be possible to edit human embryos and remove the sections of genetic code that cause these diseases before people are born.

SEE ALSO: A US panel has endorsed limited genetic modification of humans — here's what that means

Join the conversation about this story »

NOW WATCH: Watch science writer Carl Zimmer explain CRISPR in 90 seconds

A startup that runs an 'app store' for genetics just raised $200 million

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Robin Thurston headshot

  • Helix, a DNA-testing startup that runs an "app store" for your genetic code, has raised $200 million.
  • DFJ Growth Fund led the series B round, and former AOL CEO Barry Schuler, a partner at DFJ, is joining the company's board.
  • Helix has so far inked 47 partnerships with companies to run tests on the Helix platform. The tests range in cost from around $20 to hundreds of dollars.


A startup that runs a marketplace for DNA tests that cover everything from ancestry to your preference of wine has raised $200 million.  

DFJ Growth Fund led the series B round, and former AOL CEO Barry Schuler, a partner at DFJ, is joining the company's board. Illumina, Kleiner Perkins Caufield Byers, Mayo Clinic, Sutter Hill Ventures, and Warburg Pincus, which had previously invested in Helix when it raised $100 million back in 2015, joined in the round as well. 

The funding comes at a time when the DNA-testing field is exploding. In the past few years, the number of people taking DNA tests has picked up pace, with more than 12 million people sequenced, with almost 10 million of those tests happening since 2016.

Helix, which launched its marketplace in July 2017, definitely felt the effect of the increasing interest, Helix CEO Robin Thurston said, though he did not disclose the number of people who've taken a Helix test. 

Helix DNA 3How Helix works

Every time you do a DNA test and send in a sample of spit, parts of your same genes are just getting sequenced again and again. Helix wants to cut out that physical step.

Instead of sending your spit nine different places for nine different tests, you could just let companies access your genetic code. Say you want to learn about your ancestry. You can pay for National Geographic's Geno 2.0 test and send in your tube of spit to Helix. Your results would come back through National Geographic's system, and you wouldn't necessarily have to do anything with Helix ever again once it's done sequencing your DNA.

But say you want to try Vinome, a test that uses insights from your DNA to determine your taste in wine. Since you've already had your spit analyzed, all you have to do is let Vinome access that information, and your results will come back to you in a matter of days, much faster than the six to eight weeks you might otherwise wait with a physical sample. It also cuts down on some of the cost.

It can also introduce more companies to the DNA-testing space. Instead of having to invest in physical labs and sequencing machines, all companies have to do is focus on the software that turns the analyzed DNA into useful reports.

That could change the way we think about DNA. Helix cofounder Justin Kao told Business Insider in July that the hope is to make DNA as seamlessly integrated into people's lives as GPS has become. Through apps like Lyft or Yelp, we don't exactly think of ourselves as using GPS, since it's just something that powers the app.

"That's where we're going with genomics," Kao said. Instead of actively thinking about our DNA, it could just be integrated into an app that tells us about a certain fitness plan.

Helix has so far inked 47 partnerships with companies to run tests on the Helix platform. The tests range in cost from around $20 to hundreds of dollars.

SEE ALSO: A doctor was so frustrated trying to find freelance work that he built a startup around it — and it just raised another $12 million

DON'T MISS: I tried National Geographic's next-generation ancestry test and was surprised by my results

Join the conversation about this story »

NOW WATCH: A memory champion who has memorized 10,000 digits of pi reveals how to improve your memory in minutes

23andMe can now tell you about your breast cancer risk

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23andMe kit

  • The FDA just allowed 23andMe to provide tests that analyze your genetic risk for cancer.
  • The test can give you a report about three BRCA1/BRCA2 gene mutations, which are associated with an increased risk in breast and ovarian cancer and are most commonly found in people of Ashkenazi Jewish descent.
  • It's the first direct-to-consumer test that the FDA is allowing to provide information about your genetic risk for cancer. Typically, cancer genetics tests require a doctor's prescription. 

23andMe can once again tell you about your genetic risk for cancer.

The FDA has given the genetics testing company the green light to give its customers a report about three BRCA1/BRCA2 gene mutations that are associated with an increased risk in breast and ovarian cancer. That makes 23andme the first direct-to-consumer test allowed to provide some information about your genetic risk for cancer. Typically, cancer genetics tests require a doctor's prescription. 

"Worrying about the many current 23andMe customers who have one of or more of these variants has caused me sleepless nights," 23andMe CEO Anne Wojcicki said in a blog post on Tuesday. 

In November 2013, the US Food and Drug Administration barred 23andMe from sending any data related to health to customers, including the BRCA tests it had. The FDA cited concerns that the company was misrepresenting genetic tests as medical advice.

But when the test relaunched in 2015, 23andMe was able to provide health reports showing whether a person carried a variant for a genetic disease that could be passed down to his or her child. The results also included wellness reports with information about caffeine consumption and lactose intolerance. In 2017, 23andMe got the green light to provide health risk reports for conditions like celiac disease and Alzheimer's disease. 

The BRCA mutations 23andMe looks at are most commonly found in people of Ashkenazi Jewish descent. Their presence indicates an increased risk of breast cancer, but that doesn’t mean a person will necessarily get the disease — just that the chances are higher. 23andMe looks at three mutations, but even if you don’t test positive for one of them, you could still carry another mutation that the test doesn't include.

"While the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations and most BRCA mutations that increase an individual’s risk are not detected by this test," Donald St. Pierre, the FDA's acting director of the Office of In Vitro Diagnostics and Radiological Health, said in a news release. "The test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk."

According to the FDA, the BRCA mutations are present in about 2% of Ashkenazi Jewish women. 23andMe said in a news release that women with one of the variants have a 45-85% chance of developing breast cancer by the time they reach 70. Most American women have a 7% chance of developing breast cancer by 70, according to the CDC.

Kathy Hibbs, chief legal and regulatory officer at 23andMe, told Business Insider that these three mutations are among the most well-defined when it comes to the BRCA1 and BRCA 2 genes. Should someone have a family history of breast cancer, they might want to take a more comprehensive, doctor-ordered test that looks for more mutations in the BRCA1/2 genes, along with other genes associated with cancer. 

"The point of our product is to give individuals a broad screen," Hibbs said. After that, if a deeper screen is needed, the user can choose whether to get their doctor involved. 

Like with 23andMe's Alzheimer's and Parkinson's disease reports, users have to opt-in to receive the reports during the ordering process and once they get the results. The reports will come with educational modules to make sure users fully understand the information they're about to receive. 

The reports aren't available just yet for existing 23andMe users. The company said in a release that the test would be up in the "coming weeks." 

SEE ALSO: 23andMe can finally tell you if you're at a higher risk for diseases like Alzheimer's — here's what you should know first

DON'T MISS: Over a 40-year career, this 'stubborn scientist' helped change the way we think about cancer and genetics

Join the conversation about this story »

NOW WATCH: The surprising reason why NASA hasn't sent humans to Mars yet

Genetic experts have a message for anyone thinking of taking 23andMe's new breast cancer test

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Helix DNA 7

  • Genetics testing company 23andMe can now tell you about your breast cancer risk — at least based on three mutations found on the BRCA1 and BRCA2 genes.
  • Genetic counselors who help people navigate tests like those that determine your cancer risk have concerns about how those who have taken the test will interpret their results. 
  • Here's what those experts would like you to know about what the test does — and doesn't — tell you about your breast cancer risk. 

The FDA on Tuesday gave the OK for 23andMe to provide a breast cancer risk report without a prescription. 

That makes 23andme the first direct-to-consumer genetics test allowed to provide some information about your genetic risk for cancer, specifically around three mutations to the BRCA1 and BRCA2. Typically, cancer genetics tests require a doctor's prescription, and they tend to go more in-depth than these three mutations.

23andMe's test costs $199 for both the ancestry and health components. After ordering, 23andMe sends you a test kit with a saliva collection tube, which you then send back to the company's labs. From there, the tube's contents are analyzed, and 23andMe provides you a wide range of reports from information about your ancestors to information on how you metabolize coffee, along with other health risk reports for conditions like celiac disease and Alzheimer's disease, so those are included in the test as well in addition to your BRCA risk.

"Worrying about the many current 23andMe customers who have one of or more of these variants has caused me sleepless nights," 23andMe CEO Anne Wojcicki said in a blog post on Tuesday.

The reports aren't available just yet for existing 23andMe users. The company said in a release that the test would be up in the "coming weeks."

But genetic counselors, who help people navigate tests like those that determine your cancer risk, already have their concerns about the newly-approved test — mainly around how users will interpret the results. 

What you can learn from the test

23andMe's test is looking specifically at mutations to the BRCA1 and BRCA2 genes, which are connected with an increased risk of breast and ovarian cancer in women, and breast and prostate cancer in men.

  • The three BRCA mutations 23andMe analyzes are most commonly found in people of Ashkenazi (Eastern European) Jewish descent. That's the group this test will be especially useful for. "If you are not of Jewish background, this test has very little utility for you," former National Society of Genetic Counselors president Mary Freivogel told Business Insider. 
  • BRCA1/2 have thousands of mutations that can mess up how the genes work. So even if someone doesn't have one of the mutations, they could still carry another mutation that the test doesn't include.
  • The presence of a mutation doesn't necessarily mean you have cancer, just that the chances are higher. For example, in the US, the average woman has a 7% of chance of getting breast cancer by age 70. That escalates to a 50% if the woman has a mutation to her BRCA 1/2 genes.
  • Knowing whether you have a mutation could get a conversation started with health care providers to see what kind of additional tests you should take and what kind of preventive measure should happen next.

Kathy Hibbs, chief legal and regulatory officer at 23andMe, told Business Insider that these three mutations are among the most well-defined when it comes to the BRCA1 and BRCA 2 genes. Should someone have a family history of breast cancer, they might want to take a more comprehensive, doctor-ordered test that looks for more mutations in the BRCA1/2 genes, along with other genes associated with cancer.

"The point of our product is to give individuals a broad screen," Hibbs said. After that, if a deeper screen is needed, the user can choose whether to get their doctor involved.

Here's what the report looks like if you have one of the mutations 23andMe tests for.

Screen Shot 2018 03 07 at 12.15.08 PM

Why genetics experts are concerned about the DTC test

Having genetic mutations linked to hereditary cancer risk can be incredibly crucial information. Because there's such a higher risk of getting cancer for those who have mutations, there are a number of ways to intervene, including surgery to remove breasts and ovaries. 

"Having a positive presents you with a lot of serious decisions," Freivogel said. "If you're not ready to make those decisions, a positive result can put you into a tailspin."

She recounted an instance when one of her friends in her mid-20s asked her doctor if she should be getting regular breast cancer screenings because she had a family history of breast cancer. Her doctor suggested a DNA test, which came back positive.

At that point, her doctor started asking questions Freivogel's friend wasn't entirely prepared to answer, such as discussing a preventive mastectomy and asking if she planned to have kids soon because she may need to have her ovaries removed. 

Before 23andMe users can view their results for BRCA1/2, they have to complete an educational module, which should help set some of these expectations. Like with 23andMe's Alzheimer's and Parkinson's disease reports, users have to opt-in to receive the reports during the ordering process and once they get the results.

On the report itself, for those who do have one of the mutations, 23andMe advises, "It is important to talk with a healthcare professional about options for screening and prevention. It is also important to confirm this result in a clinical setting before taking any medical action."

There's also the concern of what happens if someone gets a result that's negative for the three mutations tested. 

Helix DNA 6For example, I asked Freivogel if I should view my results, knowing that I'm of predominantly Scandinavian descent and not of Ashkenazi Jewish descent and likely won't test positive for the results. She told me it probably wouldn't be worth it. Her bigger concern is that if someone of Scandinavian descent tested negative but did have a family history of breast and ovarian cancer, they might not fully understand that they still could have a mutation, just not in the three tested. 

On the reports that come up negative for the mutations 23andMe looks at, users will get a message that says, "Most cases of breast and ovarian cancer are not caused by the genetic variants we tested, so women without a variant are still at risk of developing these cancers. It’s important to continue with any cancer screenings your healthcare provider recommends."

Myriad Genetics, a company that provides BRCA1/2 testing through doctors, shared the concern of a false-negative result from direct-to-consumer (or DTC) tests. 

“We have concerns that DTC tests designed to evaluate only a tiny fraction of the genetic causes of hereditary breast cancer could cause harm to patients by inducing a false sense of security associated with a negative test," Myriad Genetics spokesman Ron Rodgers told Business Insider in an emailed statement. 

SEE ALSO: 23andMe can now tell you about your breast cancer risk

DON'T MISS: Patient groups have a message for anyone thinking of taking 23andMe's new test

Join the conversation about this story »

NOW WATCH: What Silicon Valley is doing to make humans live longer

NASA sent one identical twin brother to space for a year — and it may have permanently changed 7% of his DNA

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NASA astronauts Scott and Mark Kelly

  • Scott and Mark Kelly are identical twins with two sets of the same DNA.
  • While Scott spent a year in space, his brother Mark stayed on Earth, giving NASA a unique opportunity to see how space flight changes the human body and brain.
  • They're uncovering some fascinating results: about 7% of Scott Kelly's DNA may have permanently changed in space.


When NASA astronaut Scott Kelly stood up last March after spending a year in space, he was two inches taller.

The engineer and veteran of four space flights is part of a long-term NASA study that aims to figure out how being in space changes our bodies and brains.

Scott Kelly is uniquely positioned to give NASA key insight into these changes because he is both an astronaut and a twin. For its research, NASA is comparing Scott Kelly's DNA with the identical DNA of his twin brother, Mark Kelly. Mark stayed on Earth for Scott's 340-day stint aboard the International Space Station, giving NASA the rare opportunity to compare how being space affected his genes.

Although each Kelly brother was born with the same set of DNA, life has exposed each set of genes to a range of divergent experiences — space being one of them. Those experiences affect the way the Kellys' genes are expressed (also known as being "turned on" or "turned off").

Scott's newfound height turned out to be only a temporary result of his spine being physically stretched in a gravity-free environment, and not a tweak to his genes. But it's just one of the many alterations the researchers have documented so far. Deep within Scott's DNA, they are finding a range of tweaks that are not present in his brother Mark. While some were temporary and seemed to occur only while he was in space, others were long-lasting.

"When he went up into space it was like fireworks of gene expression,"Christopher Mason, a principal investigator on the NASA twins study and an associate professor at Weill Cornell Medical College, told Business Insider. "But the changes that seem to have stuck around include changes in immune system function and retinal function related to his eye health."

Roughly 7% of Scott Kelly's genes may have permanently changed as a result of his time in space

NASA astronaut Scott KellyAccording to Mason, some 7% of Scott's genes have not returned to normal since he landed back on Earth more than two years ago. Kelly said he was surprised by that change in a Marketplace interview on Thursday.

"I did read in the newspaper the other day … that 7% of my DNA had changed permanently,"Kelly said. "And I'm reading that, I'm like, ‘Huh, well that's weird.'"

Those changes appear to have occurred in genes that control functions related to Kelly's immune system, bone formation, and DNA repair, as well as in those involved in responding to an oxygen-depleted or carbon-dioxide rich environment.

"With a lot of these changes, it's as if the body is trying to understand this, quite literally, alien environment and respond to that," Mason said.

In many respects, Kelly's genes display the hallmarks of a body reacting to what it perceives as a threat, he added.

"Oftentimes when the body encounters something foreign, an immune response is activated. The body thinks there’s a reason to defend itself. We know there are aspects of being in space that are not a pleasant experience and this is the molecular manifestation of the body responding to that stress."

The full results of NASA's twin study aren't public yet — but here are some interesting findings

The full results of NASA's twin study haven't been released yet, but the preliminary data is already giving scientists a lot to ponder.

Some of those findings build on what we already knew, like the fact that being in space stretches your spine, shrinks your muscles, and messes up your sleep cycle.

But the long-term effects of taking our bodies for a jaunt outside Earth's protective atmosphere are much less understood. Here's a quick look at what the researchers have uncovered so far:

  • Scott's telomeres got longer, then shrunk back to normal. Scott's telomeres, or the caps at the end of chromosomes, became longer than his brother's while he was in space, but quickly returned to their normal length once he returned home. "That is exactly the opposite of what we thought,” Susan Bailey, a radiation biologist at Colorado State University in Fort Collins, told Nature last year. That's because shorter telomeres are generally associated with getting older. Scientists are still studying what this means, but it could be linked to getting more exercise and eating fewer calories while in space, according to NASA.
  • Scott's genetic expression changed in a variety of ways. Scott's genes showed both increased and decreased levels of methylation, a process that results in genes getting turned on and off. “Some of the most exciting things that we’ve seen from looking at gene expression in space is that we really see an explosion, like fireworks taking off, as soon as the human body gets into space,” Mason said in a statement last year. According to NASA, this could "indicate genes that are more sensitive to a changing environment whether on Earth or in space."
  • The twins hosted different gut bacteria. Researchers noted differences between Scott's and Mark's gut bacteria (essentially the microbes that aid in digestion) throughout the year-long study. This was probably a result of their different diets and environments, NASA said.
  • Scientists are looking for what they're calling a "space gene." By sequencing the RNA in the twins' white blood cells, researchers found more than 200,000 RNA molecules that were expressed differently between the brothers. It is normal for twins to have unique mutations in their genome, but scientists are "looking closer to see if a 'space gene' could have been activated while Scott was in space," NASA said.

NASA is still combing through the results of the study and expects to release the full set later this year. That research will inform space missions — including potential trips to Mars— for years to come.

 

Dina Spector contributed to an earlier version of this story.

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DON'T MISS: 8 weird things that happen to your body if you live in space for a year

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NOW WATCH: NASA and Lockheed Martin reveal their plans to build the first-ever Mars space station

NASA astronaut Scott Kelly shared what it was REALLY like to live in space for a year

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NASA astronaut Scott Kelly

  • AstronautScott Kelly spent a year aboard the International Space Station (ISS) to study the effects of space travel on the human body.
  • His identical twin brother and former NASA astronaut, Mark Kelly, remained on Earth.
  • NASA's Twins Study confirmed preliminary findings that 7% of astronaut Scott Kelly's DNA no longer matches his identical twin brother's after landing two years ago.
  • During a Reddit AMA while he was still aboard the International Space Station, Kelly shared some of the more nuanced details about what it's like to live in space for a year.

 

What's it like to not walk on solid ground for a year?

That's one of the questions NASA astronaut Scott Kelly and companion Russian cosmonaut Mikhail Kornienko set out to answer during their year-long mission on board the International Space Station (ISS).

In 2016, the men succeeded in their mission to discover how a long-term, low-gravity environment affects the human body, becoming the first humans to ever spend a year in zero gravity. Their mission was twice as long as typical US missions, and their journey of more than 143 million miles is considered critical in preparing astronauts for future expeditions to Mars. Kelly's identical twin brother and former NASA astronaut, Mark Kelly, remained as a control subject on Earth.

When Kelly initially returned from space two years ago, he was 1.5 inches taller, slower and less accurate, and his genetic code had changed significantly. While most of that returned to normal, preliminary findings from NASA now show that that 7% of his DNA has not returned to normal after landing and no longer matches his identical twin brother's.

During a Reddit AMA while he was still aboard the International Space Station, Kelly shared his observations about life in space. Here are some of the most interesting things the astronaut revealed:

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Space isn't as scary as you might think

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"I don't feel alone or afraid. I was up here for six weeks as the only American on the US side of the space station and I was fine. I have been afraid when the ground has called and privatized the audio generally meaning something bad has happened. So I have been a little afraid."

This is a response to the question, Do you ever feel alone/afraid? If so, how do you combat those feelings?



The Bahamas are just as beautiful from space

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"My favorite spot on Earth to see from space is probably the Bahamas. The brilliant and varied colors of the blue water and contrast from here is pretty spectacular."

This is a response to the question, What is your favorite part of Earth to see from space?



Kelly's first meal upon returning to earth wouldn't be fast food

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"The first thing I will eat will probably be a piece of fruit (or a cucumber) the Russian nurse hands me as soon as I am pulled out of the space capsule and begin initial health checks."

This is a response to the question, What will be the first thing you eat once you're back on Earth?



See the rest of the story at Business Insider

8 weird things that happen to your body if you live in space for a year like Scott Kelly

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In the name of science, former NASA astronaut Scott Kelly shoved himself into the top of a rocket, accelerated to 17,500 mph, and fell around Earth for 340 days — nearly an entire year.

The lack of gravity, radiation exposure, Kelly's diet, and other facts of life in orbit affected his body in significant ways — including, as NASA is learning now, even perhaps his genetic blueprint.

The Twin Study, which is still in progress, uses Scott Kelly's identical twin brother and fellow former astronaut, Mark Kelly, to unmask the subtle but important effects of long-duration space travel on the human body.

Here are eight biological oddities that researchers have found happen to your body if you're in space for a year.

SEE ALSO: After spending 340 days in space, here's where astronaut Scott Kelly is most excited to visit

DON'T MISS: NASA astronaut Scott Kelly shared what it was REALLY like live in space for a year

Your face looks different.

space 6



Your bone density can change.

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Your body fluids shift.

space_7



See the rest of the story at Business Insider

Ancient humans had sex and interbred with a mysterious group known as the Denisovans more than once, new research has found

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Cave Caveman Drawing Art Prehistoric India Paintings rock

  • We've known for a long time that early humans interbred with Neanderthals and Denisovans, other early hominin species that co-existed with Homo sapiens.
  • A new study indicates humans interbred with Denisovans more than once, showing that there were more interactions between these early hominin groups than we knew.
  • This helps show that we still have a long way to go in understanding the evolution and emergence of our own species, what would become modern humanity.

The more we learn about ancient human history, the more we see that Homo sapiens is not a unique species that stands apart from the rest of the evolutionary tree.

As our early ancestors spread around the globe and encountered other early hominin species like the Neanderthals, we interbred with them and had babies.

We've known for years now that early humans interbred with Neanderthals and Denisovans — other hominins that existed as early Homo sapiens were making their way out of Africa. Roughly 2% of the DNA in modern people from Europe and Asia comes from Neanderthals. Though we know less about the Denisovans and our interactions with them, up to 5% of the DNA of modern residents of Papua New Guinea show traces of interbreeding with Denisovans. Smaller traces of those ancient liaisons are found across Asia.

And a new study sheds even more light on the Denisovan connection. According to that research, humans didn't just interbreed with Denisovans once — it happened at least twice.

We know very little about the Denisovans. Our knowledge comes from one set of ancient fossils discovered in the Altai mountains of Siberia. But the 2010 genetic sequence of that individual revealed these ancient hominins had left traces in modern humans, especially in Oceania.

Researchers from the University of Washington in Seattle wanted to better compare the genomes of modern humans and ancient Denisovans. To do so, they studied 5,600 whole-genome DNA sequences for people from Europe, Asia, America, and Oceania.

Denisovan homo sapien

"We analyzed all of the genomes searching for sections of DNA that looked like they came from Denisovans," said study senior author Sharon Browning, a professor of biostatistics at the University of Washington School of Public Health, in a news release.

They expected they'd find that most of the Denisovan DNA would trace back to that Oceania population from Papua.

"But in this new work with East Asians, we find a second set of Denisovan ancestry that we do not find in the South Asians and Papuans," Browning said. "This Denisovan ancestry in East Asians seems to be something they acquired themselves."

She thinks it's possible that early humans in Oceania met and mated with a southern group of Denisovans around the same time the ancestors of modern East Asians encountered a northern group, all around 50,000 years ago.

This indicates that Denisovans may have been more widespread than we might have imagined based on this one fossil specimen we have. It seems they could have been widespread enough for separate groups of Homo sapiens and Denisovans to encounter and mate with each other in different places — and to do so enough that the genetic history of those encounters is still clear.

In recent years, we've learned that the first cave art in Europe was made by Neanderthals, not Homo sapiens. We've discovered the remains of previously unknown cousins of early humans, deep inside a cave in South Africa. There's much we don't know about the world we as a species emerged from.

And if anything, this helps demonstrate that our emergence — and our branch on the evolutionary tree — is less separate and unique from other early species than we may have thought.

SEE ALSO: Scientists have pinpointed when the first cave paintings were made — and it means Neanderthals were more advanced than they thought

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NOW WATCH: Here's why I'm donating my body to science

Angelina Jolie shed light on a genetic mutation tied to breast cancer risk — now 23andMe will test you for it, but scientists are worried

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23andMe kit

  • "Direct to consumer" genetics tests have soared in popularity in recent years as the cost of genetics sequencing has plummeted.
  • AncestryDNA, Helix, and 23andMe are some of the companies offering the tests.
  • But 23andMe is the only one with approval from the Food and Drug Administration to include information about breast-cancer risk based on three mutations on the BRCA 1 and 2 genes.
  • Experts say a "negative" result on 23andMe's test may be give some people a false sense of security that they are not at risk for the disease.

The eyes may be the windows to the soul, but spit is increasingly the portal to your health.

The consumer genetics company 23andMe recently got a green light from the US Food and Drug Administration to include information on breast-cancer risk in its online customer reports, based on screening for three of the multiple genetic mutations linked to the disease. But the new test could be dangerously misleading, according to several genetics experts in the industry who spoke with Business Insider about the new test.

23andMe is one of a handful of new companies offering spit-in-a-tube genetics tests that don't require a doctor, also known as direct-to-consumer genetic testing. The tests have soared in popularity in recent years as the cost of genetics sequencing has plummeted.

According to 23andMe, the company has taken multiple steps to ensure that customers do not misinterpret their results. Still, experts say many people could be misled because they fail to read the so-called fine print.

The problem with 23andMe's new test is simple, according to John Witte, the program leader for the cancer genetics program at the University of California at San Francisco. If you do 23andMe's most recent genetics test and come up "negative" for the three cancer-linked mutations it screens for, you may believe your cancer risk is either low or nonexistent.

But it isn't.

That's something 23andMe clearly states in the report that will accompany the new test, Andy Kill, a representative for 23andMe, told Business Insider. The company's report will include a mandatory eight-page "education module" that customers must complete before they can see their results. It contains the following statement:

"Women without a variant are still at risk of developing cancer. It's important to continue with any cancer screenings your healthcare provider recommends."

Despite all those warnings, Witte and other experts believe the test could still be troublesome — especially for people who don't thoroughly read all of that information.

"There are many other genetic variants that are linked to breast cancer that wouldn't be picked up by 23andMe's test," Witte said. "A 'negative test' just means you don't carry one of the three mutations it tests for. That's all it means."

Angelina Jolie and the importance of genetic counselors

angelina jolie leg dress 2012 oscars23andMe's latest test, which will be available to customers in the coming weeks, reveals whether you have a mutation on two genes that have been found to be closely linked to breast and ovarian cancer — also known as the BRCA genes.

The actress Angelina Jolie brought public awareness to the mutations when she made the decision to have her breasts and ovaries removed after testing positive for the BRCA1 mutation.

The problem with a genetics report coming without accompanying information from a doctor or genetic counselor, experts say, is that testing positive or negative for the mutations doesn't reveal whether you'll get breast cancer. It is merely one of several factors, including things like family history, ancestry, and lifestyle, that ultimately determine the development of the disease. To understand the next steps you should take, you should have a physician or a genetics counselor at hand, Witte said.

Jolie did not make the decision to have her breasts and ovaries removed solely because she carried the BRCA1 gene mutation, which interferes with how genes — the blueprint for the proteins that make up cells — function. As she wrote in a 2015 essay for The New York Times, Jolie also had a family history of breast cancer, and that strongly influenced her choice.

Normally, BRCA genes function as safeguards against cancer. They protect cells from growing out of control and developing into the disease. Healthy BRCA genes repair genetic errors that can occur when cells multiply, for example, which is why an improperly functioning or mutated BRCA gene — though rare among the general population— can sharply increase cancer risk.

It's the job of a physician or genetic counselor to walk through all of this dense, complicated information with a patient.

"I hope the people who take this test have genetic counselors," Witte said. "I hope people will at least go see their doctor."

Other limitations of the new test

Because BRCA mutations are so rare among the general population, 23andMe's new test holds real value only for people with Ashkenazi Jewish heritage, Pamela Munster, a professor of oncology at the University of California at San Francisco who is a coleader of the Center for BRCA Research, said in an email. For people with Ashkenazi Jewish heritage, the chances of inheriting the mutation are 10 times as high as they are for the general population, of whom only 0.25% have the mutation.

"If you're Ashkenazi Jewish, those are the most common ones for that population, but I don't know that that distinction is going to come through to the average person," Witte said.

The new test does not address breast-cancer risk variants that are unusually common among members of other populations, such as people with Latino/Latina heritage, Witte added.

"I do know that in the Latino/Latina populations there are other variants linked with breast cancer risk. So the test isn't going to be very informative for them. But the point is — will they know that it's non-informative? That's a concern."

Kill, the 23andMe representative, said the new test underwent months of FDA review and was safe: "The BRCA-related report is in the same format as our other genetic health risk reports which have undergone extensive user comprehension studies submitted to FDA."

SEE ALSO: I tried 23andMe's new genetics test — and now I know why the company caused such a stir

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Bill Gates says it would be a 'tragedy' to pass up a controversial, revolutionary gene-editing technology

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bill gates

  • Bill Gates is advocating for the use of genetic editing tools like CRISPR.
  • CRISPR allows scientists to edit DNA, eliminating undesirable genes and potentially swapping in preferable alternatives.
  • Gates thinks we could use genetic editing to make livestock and crops more sustainable and to eliminate malaria-causing mosquitoes.


The ability to rewrite the genetic code for life is a powerful one.

In the past few years, scientists have revolutionized our ability to do so with the discovery and refinement of a molecular tool called CRISPR that allows us to edit sections of DNA. This tool can snip specific parts of genetic code out and replace them with new segments, eliminating diseases or giving creatures whole new traits.

While it was possible to edit DNA before CRISPR's discovery, this tool allows us to do so far more accurately and cheaply than ever before.

In a recent essay published in Foreign Affairs, Bill Gates described some of the ways genetic editing technologies have the potential to transform the world. Since the 1990s, he wrote, the world has made significant progress toward ending child mortality, fighting disease and hunger, and raising people out of poverty.

But there's still a long way to go.

"[I]f the world is to continue the remarkable progress of the past few decades, it is vital that scientists, subject to safety and ethics guidelines, be encouraged to continue taking advantage of such promising tools as CRISPR," Gates wrote.

Gates has long been supportive of using genetic editing tools. He was one of the early investors in Editas Medicine, one of the first companies to start trying to use CRISPR to eliminate human diseases. Gates Foundation researchers have worked for nearly a decade on ways to use genetic editing to improve crops and to wipe out malaria-carrying mosquitoes.

In this latest essay, Gates lays out exactly where he thinks gene editing could have the biggest impact right now.

DNA

Feeding the world

One of the first places that many experts think people will encounter life forms with edited DNA is in the world of agriculture.

Editing the genes of a plant or animal doesn't involve adding in genes from other creatures, like some forms of genetic modification. (Genetically modified organisms are still considered safe by most scientists — and Gates supports those, too.) But it's possible to change organisms in powerful ways using genetic editing.

As Gates explained, researchers are studying ways to modify the genes of livestock animals like tropical cows, which normally don't produce much milk, to make them produce milk more like dairy cows. Scientists also trying to see if they can make dairy cattle more resilient in hot weather, something essential in a warming world. Researchers have already figured out how to edit the genetic code of cows to remove their horns using a similar sort of modification.

Editing the genes of crops could also make it easier for them to survive hot or arid conditions, provide more nutrients, and require less water to thrive. These are the sorts of modifications that could be essential to feed the world — as Gates wrote, the population of Africa is expected to more than double by 2050. And the world will only continue to get warmer.

FILE PHOTO: An Anopheles stephensi mosquito obtains a blood meal from a human host through its pointed proboscis in this undated handout photo obtained by Reuters November 23, 2015.  A known malarial vector, the species can found from Egypt all the way to China. REUTERS/Jim Gathany/CDC/Handout via Reuters

Wiping out disease

Many researchers are also interested in using gene editing to modify human genes to treat or eliminate diseases with genetic causes, like a form of blindness or Huntington's disease.

But Gates points out the the same genetic editing tool might be able to make enormous progress in the fight against malaria, a disease that his Gates Foundation has been trying to eradicate for years.  The mosquito-borne illness kills about 450,000 people every year and infects hundreds of millions.

Out of 3,500 species of mosquito around the world, only the females from about 40 Anopheles species can transmit malaria. Using CRISPR, researchers think they could fundamentally alter the DNA of some members those species in a way that would spread a gene that would make the population infertile or only able to produce male offspring

Making a genetic change designed to spread to the rest of the population is an effort known as a gene drive, a process Gates said could potentially wipe out or drastically reduce the populations of Anopheles mosquitoes.

But spreading a deadly gene through a species is not something to take lightly. As Dan Strickman, a medical entomologist and Senior Program Officer for Vector Control at the Gates Foundation, told me on a visit to their offices in 2016, the potential that these genes could somehow transfer to another species is a serious concern.

"Nobody signed up for that," he said.

But so far, tests have shown that gene drives can be conducted safely in lab settings. In a 2016 report (co-funded by the Gates Foundation), the National Academies of Sciences, Engineering, and Medicine endorsed continued research into gene drives.

The ability to easily modify DNA is a wildly powerful tool that could do a world of good as long as it's done carefully.

As Gates wrote, "It would be a tragedy to pass up the opportunity."

SEE ALSO: Scientists just got a step closer to treating incurable diseases using a revolutionary gene-editing tool

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Cancer patients are increasingly being treated based on their inherited genetics — and it’s putting doctors in a difficult position

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Helix DNA 7

  • Cancer doctors are increasingly turning to genetics test to help them treat their patients with advanced forms of cancer. 
  • But as we learn more about the genetics, we're learning that a lot of it is connected to the genes we inherit, as opposed to the mutations that arise in tumors.
  • That's putting doctors in a difficult position, because that information can have implications on not just the cancer patient, but his or her whole family. 

It started to hit Dr. David Nanus, chief of hematology and oncology at Weill Cornell Medicine and NewYork-Presbyterian. 

About one in 10 of the patients he sees with a condition like advanced prostate cancer has a mutation in their DNA associated with the cancer that can be useful in treating the disease. So testing that inherited DNA is becoming a more common occurrence. 

But what happens when that test comes back with a positive result for a hereditary genetic mutation?

"If I have a prostate cancer patient who's 65 years old and has a BRCA2 mutation, and advanced prostate cancer, that's fine, but what about his son who's 30 and may have inherited it or his young daughter who's now may be at risk for breast cancer?" Nanus said.

Those family members, if also carrying the mutation, may have to consider things like regular screenings, or even preventive surgical procedures. At this point, he typically refers the family out for genetic counseling. 

For Nanus, the gravity of the genetic information he communicated to his patients clicked into place when thinking about treating an Ashkenazi Jewish man with big family.

"It's when you have an Ashkenazi jewish family with 14 children," Nanus said. "If you have a patient that's positive, that means statistically, seven out of his children are going to be positive. It's a one out of two chance of inheriting it. That's where it sort of hits you, it's like 'Holy cow, this is not just this guy, it could be 100 people.'"

That realization led Nanus to bring the issue up with National Cancer Institute director Dr. Norman Sharpless. At the end of a presentation about Sharpless' plans for the institute under the Trump administration, Nanus asked how best to deal with this situation.

The question was in part in response to a February update to the National Comprehensive Cancer Network's prostate cancer guidelines, recommending germline genetic testing (that is, the DNA you inherit) and counseling to men with certain forms of prostate cancer. Separately, in March, 23andMe got FDA clearance to provide reports on three BRCA1/BRCA2 gene mutations that are associated with an increased risk of certain cancers. 

Nanus asked: 

"So in solid tumors now, we're recognizing with the sequencing, there's a lot of genetically inherited mutations. And we're faced with this genetic counseling, germline mutation analysis — I'm just curious, what's the NCI's position on this going forward?"

It's a difficult situation. Knowing what mutations you have can be a key part of understanding your risk of getting certain types of cancer. For people diagnosed with cancer, knowing those mutations — both the ones you inherited and the ones found in the tumor itself — can be useful for treating the disease.

"It also has a whole can of worms" Sharpless said in response to the question, because knowing the hereditary mutations associated with cancer not only impact you, but the people you pass along your genetic code to: your children and grandchildren. 

How to proceed

When it comes to genetic mutations, some have been clearly associated with a particular cancer. For example, risk of getting breast cancer in women goes from 7% to an average of 55-65% when you have the BRCA1 or 2 gene mutation. 

But there are also a lot of genetic mutations out there that are called "variants of unknown significance" which may or may not have a link to a particular disease. That makes communicating the results even more tricky.

For now, Sharpless recommends a cautious approach. 

"I think what should be done today is one should adopt an extremely cautious position about what you're going to tell the patient," Sharpless said. "Any germline event that’s going to be communicated to the patient has to be a really clear pathogenic event."

Genetic counselors, like National Society of Genetic Counselors cancer expertJoy Larsen Haidle, want to be viewed as teammates. 

"This is the crossroads where our specialties are going to be merging, and working in parallel to make sure that we get the right test and the information is right," Larsen Haidle said.

For Nanus, the genetic components of cancer are already something he thinks about when treating each patient, along with their other health conditions like heart disease. Ideally, he'd like to see some guidelines put in place that could help doctors navigate the implications of a person's genetics on their cancer risk, not just for themselves but for their families. 

"It is here already, I think it'll just be a growing field, and at some point the NCI will have to bring in the experts around the country and come up with some better guidance for the average doctor, internist and oncologist," Nanus said.  

SEE ALSO: I revisited my 23andMe results that can now tell whether you may have an increased risk of cancer — here's what it was like

DON'T MISS: Over a 40-year career, this 'stubborn scientist' helped change the way we think about cancer and genetics

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