Estonia To Offer Free Genetic Testing, And Other Nations May Follow

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For residents of Estonia, genomic tests may soon become as commonplace as blood pressure. The country has launched the first stage of a national state-sponsored genetic testing and information service, which will seek to help residents minimize their risk of illness based on their DNA. If the experiment goes well, it’s possible that other countries with nationalized healthcare systems will follow suit.

The initiative, which launched on March 20, will start by providing 100,000 of its 1.3 million residents with information on their genetic risk for certain diseases. Genetic information from the project will first be delivered to a family doctor, so that patients will receive counseling about what their results actually mean and how they can better adapt their lifestyle to avoid illness. According to a press release from the University of Tartu’s Institute of Genomics, which is hosting the new service, the country plans to eventually offer free genetic testing to all of its residents.

Estonia isn’t the only nation to offer free or low-cost genetic testing to most of its residents — the National Health Service (NHS) in the United Kingdom also offers them, but often only to help doctors diagnose diseases, not to help patients prevent them (and patients in the NHS still have to pay a lab processing fee).

It’s not surprising that Estonia is among the first to adopt modern trends; the small nation seems to always be on the cutting edge. The country has had a biobank program since the year 2000, established with the goals of accelerating research and making healthcare more personalized. It was the first nation to ever hold elections via the Internet, the first to offer “e-residency” for anyone in the world, and among the first to propose a national cryptocurrency. Adding genetics to its state-sponsored healthcare program, it could just offer a model for a better way to use genetics for good health.

In many places, getting genetic information alongside health advice is much more difficult. In the United States, genetic testing is usually available through primary care physicians, but according to the U.S. National Institute of Health (NIH), insurance companies don’t have good systems in place to evaluate whether genetic tests will be covered. That means that patients may not know whether or not they can afford genetic testing until they actually get it, even if it’s recommended by their doctors.

Instead, patients might turn to the cheaper, and arguably easier, method of at-home genetic testing — no driving to an appointment, no standing on a scale; you just spit in a cup, mail it off, and get results, all for a flat fee. Yet these tests don’t include the expertise of a genetic counselor, who can help a person understand how particular mutations can affect their risk of developing a disease. There are also concerns that companies like 23andMe are using genetic data for research in ways that consumers don’t understand, and even concerns that some home-testing kits could yield results that are false or misleading.

Compare that to the Estonian system. Though some experts have cautioned that free genetic advice could cause unnecessary alarm, having results delivered through a doctor leaves patients much less prone to misinformation and unnecessary freak-outs than if they tried to interpret those results themselves.

Additionally, thanks to the 1999 Estonian Human Genes Research Act, all genetic data belongs to the donor that submitted it; Estonians can choose what studies to participate in, and will soon be able to check an easy-to-use online portal to see which research studies have actually used their data.

Genetic testing is more popular than ever, and it makes sense that people want to decode their DNA to make their lives better, not just to learn about their lineage. Other countries, from Iceland to the United Arab Emirates, have plans to sequence the DNA of large segments of the population with the goal of making citizens’ lives better. These plans likely won’t be perfect at first. But other nations looking to implement their own systems might build off those, and citizens will be the ones to benefit.

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Home Genetic Tests Could Be Giving You False Results

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Home genetic tests like 23andMe have grown more popular, and so too have stories of people surprised by their results. Sometimes they’re whimsical, like the German family that discovered they’re actually Scottish; other times they call whole identities into question, like the man who discovered his father had another son he didn’t know about, which led his parents to divorce.

But a new study suggests that some of those “surprises” might just be mistakes.

Ambry Genetics, a company that interprets data from consumer DNA tests, examined the raw data from 49 patients that had already received results from at-home tests. Its re-analysis, recently published in the journal Naturefound that 40 percent of the variants reported to patients were not actually present at all.

Particularly cringe-worthy, MIT Technology Review reports that many of the false-positive calls were related to genes that are related to an increased cancer risk — meaning that tests could have given families a big scare for no reason. And this high error rate is particularly concerning given that the U.S. Food and Drug Administration just approved 23andMe to sell genetic tests for cancer risk.

Sophisticated technology has made genetic testing more accessible than ever, giving us another way to sate our desire to know more about ourselves. Whether it’s our risk of developing Alzheimer’s or confirming a family legend about Native American relatives — or even our supposed “genetic compatibility” with a potential date — we’ve come to believe that genetics will tell us everything we might want to know.

Yet these mistakes highlight what scientists and genetic counselors have warned the public about for years: that home genetic tests should be interpreted with the help of an expert, particularly when it comes to disease risk. Because of the complex interplay that happens between genetics, environment lifestyle, and health, genetic risk is not a definite.

The same is true of consumer genetic tests that interpret ancestry — they’re not as straightforward as companies assert. As NPR’s Gisele Grayson recently discovered of her own genes, the process of genetic recombination (when your embryo is formed from sperm and egg) means that you might have a genomic makeup that’s quite different from your parents or siblings.

At-home genetic testing companies also base their information on that of all of the people they’ve already tested, meaning that their data on under-tested populations (that’s generally people of color) could be flawed; “the smaller the percentage of a population within a continent that is in the database, the less certain [genetic analyses] are,” Grayson wrote.

If all of this really squashes your hope of using genetics to find out “who you are,” it might be useful to remember that human beings are a closely related species as it is. Mathematics and genetic research alike has found that every human currently alive shares a common ancestor as recently as 3,400 years ago.

Yes, genetic tests are, disappointingly, imperfect. But don’t worry, in the long-run of human history, your genetic “ancestry” doesn’t mean all that much anyway.

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Doctors Could Help Sick Babies With Rapid Genetic Tests

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Life-Saving Sequence

In August 2016, Amy Jaeger and Robert Supple became the parents of a daughter they named Rylee. Instead of spending their first months with their baby in blissful exhaustion, the new parents were faced with panic — their baby was shaking and spasming, and they didn’t know why. They took Rylee to a number of specialists, watching her undergo a seemingly endless number of tests.

Then, as reported by Technology Review, Jaeger and Supple finally found answers after a neurologist recommended whole-genome sequencing, a method in which a patient’s entire genome (all of their DNA) is analyzed and evaluated.

Just a week after Rylee’s blood was taken, her parents received a diagnosis — one that would have been fatal if left untreated. “This is part of a new wave of precision medicine,” Stephen Kingsmore, president, and CEO of Rady Children’s Institute for Genomic Medicine said to Technology Review. Quick genetic testing could allow doctors rapidly diagnose patients like Rylee.

Genetic testing hasn’t always been this speedy, but new advancements at Rady have expedited the process a great deal. The technique is fairly simple: pieces of DNA are scanned in a sequencing machine which takes apart, analyzes, and then assembles nucleotides. With the help of a variety of tools, genetic mutations can then be identified.

Better Tests, Better Treatment

It took about 13 years to sequence the first human genome. Thanks to research and technological improvements, sequencing has progressively become a much quicker process. In fact, Rady researchers once challenged themselves (and their technology) to see just how fast the process could be: the result? A completed sequence in just 19.5 hours. While the effort was extraordinary, it was also very atypical — but the team hopes that one day, they might be able to at least whittle down the time sequencing to under 24 hours. If they could achieve that, the testing and the results would then fit into a single shift for a doctor in the intensive care unit.

While it could have broader applications, for now, the team at Rady is focused on sequencing for infants and newborns because of the high risk of fatality. Very young children who are not properly diagnosed may be receiving improper treatment, or none at all, for potentially fatal conditions. From the time of birth, there could be a relatively short window for diagnosis if an infant is exhibiting abnormal symptoms. The sooner a child can be diagnosed, the sooner they can be treated — and their life potentially saved.

While Rady’s sequencing method is still in the research stage, the team has sequenced 340 children so far. About one-third of those patients were diagnosed from the test and about two-thirds of those diagnosed received different treatment because of the test’s results. Not only did it lead to improved treatment for many of the children — it even saved some of their lives.

This is not the only effort to use genetic testing to help babies and kids: doctors offer genetic testing for healthy babies as a supplement to other tests to see if they might have any underlying, less obvious conditions. But, in cases where babies are born with abnormal symptoms — but the reason is not immediately identified — rapid whole-genome sequencing could be truly life-saving.

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23andMe Cleared to Sell Genetic Tests for Cancer Risk

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Detecting Cancer

Genomics and biotech company 23andMe now has approval from the Food and Drug Administration (FDA) to sell consumers a DNA kit that tests for cancer risk. This is the first time the FDA has authorized a direct-to-consumer genetic test to determine cancer risk.

Back in 2013, the FDA ordered 23andMe to stop selling their flagship product: a “Personal Genome Service” kit. The agency thought the results of the at-home test might not be accurate. False positives could encourage consumers to seek out unnecessary medical treatment, while false negatives could lead them to believe they were free from risk when they weren’t.

After reviewing data and research from 23andMe, the FDA is now convinced that the company’s cancer test is accurate enough to receive its stamp of approval.

Researchers know of more than 1,000 BRCA breast cancer genetic mutations. However, 23andMe’s new test will analyze users’ DNA on the hunt for just three BRCA1 and BRCA2 mutations. These mutations are most common in people of Ashkenazi Jewish descent, but extremely rare in the rest of the population.

Extensive research supports a link between these mutations and breast, ovarian, and prostate cancer, so they serve as a solid starting point for 23andMe. The company will likely branch out to other mutations with future tests.

“Traditionally, you only would get tested for BRCA if you have a family history of cancer,” Shirley Wu, 23andMe’s director of product science, told Gizmodo. “We are providing a test people at risk that otherwise would have been missed. This is a giant step forward for consumers in giving them direct access.”

False Sense of Security

Testing for just three mutations does come with its problems. A person might take 23andMe’s test, get a negative reading, and assume they are risk-free. However, as previously mentioned, we know of more than 1,000 BRCA mutations, and this test only rules out three.

“Those tested can get the false illusion that they are not carriers, when in fact they may have other of hundreds of known functional mutations. The new offering by 23andMe is better than nothing, but we need to (and can) do far better,” Eric Topol, a geneticist at the Scripps Institute, told Gizmodo.

Other at-home tests, such as those from genetics company Color, are far more comprehensive, but a physician must order them. We still don’t have an FDA-approved, comprehensive test that consumers can purchase directly.

Still, 23andMe’s new testing kit could serve to show the potential benefits and risks of at-home testing, and it may serve as an important stepping stone on the path to comprehensive tests to determine a person’s risk of developing cancer and other health conditions.

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“Genetic Report Cards” Will Be the Future of Predicting Disease Risk

The at-home genetic testing boom of the last couple decades has provided us with remarkable insight into who we are, where we come from, and what the future holds for our health. It’s also provided science with invaluable data — and a lot of it.

Millions of people all over the world are swabbing the insides of their cheeks in their living rooms in hopes of improving their understanding of their familial health. Armed with the genetic profiles of these voluntary test subjects, researchers are beginning to glean a more nuanced understanding of conditions that have long defied medical insight, not to mention discovering new ones.

Researchers are also using that data to refine — or develop entirely new — treatments for diseases that science had since proclaimed untreatable. From there, the prospect of curing incurable conditions seems closer than its ever been.

The more such “direct-to-consumer” genetic testing becomes accessible to the general public (that is, the tests become more affordable and easy to use) the more data researchers will have to work with. With all that data is sure to come additional investment. With that investment is sure to come rapid progress towards combatting diseases — not just in what the tests can uncover, but when.

Disease Report Cards

We are closing in on an era when newborns could be sent home with more than a hospital blanket and a knitted cap: Parents could leave with a cost-effective and accurate genetic profile of their child. Amit Khera, a cardiologist and researcher at the Broad Institute in Cambridge, Massachusetts calls this a polygenic score, or more colloquially, a genetic report card of sorts.

“Where I see this going is that at a young age you’ll basically get a report card,” Khera told the MIT Technology Review. “And it will say for these 10 diseases, here’s your score. You are in the 90th percentile for heart disease, 50th for breast cancer, and the lowest 10 percent for diabetes.”

Just imagine: A roadmap of risk for your child’s health. Not only for the next few months, or the next few years — but the child’s entire life.

As we uncover more links between our selves and our genes — everything from earwax consistency to personality quirks to taste aversions — we may be able to predict a lot more about a child than just their lifetime risk of heart disease.

Genetic risk for a number of conditions can be mitigated by lifestyle, environment, and other factors over which we can exert some control. While the risk of a condition like Type II diabetes is certainly modifiable, we’re learning (as we are with many other diseases) that there are more than one or two genes we have to keep an eye on. The genetic culprits behind certain diseases number not in the dozens, but the hundreds.

Worth the Risk?

Humans have thousands of genes in varying positions in our genome. When it comes to assessing risk, the presence of genes we know are involved in certain conditions is balanced against the others — usually in percentages — and the risk is reported as an average. As more genes are identified as being linked to certain conditions, these predictions will become more accurate.

Improving risk assessments would matter not just for infants at birth (if not for fetuses when they’re still in the womb) — but the rest of us, too, who may be more at-risk for a condition like heart disease than we realized.

The question, then, becomes what, if anything, do we do with our knowledge of those disease predictions? What should medical professionals do with that information? If the risk is something that can be mitigated by changing one’s diet, starting a medication, quitting smoking, or even wearing a fitness tracker, the information would be actionable. If the condition is inevitable, then is being able to forecast one’s future medical hardships a blessing or a curse?

This debate is particular important in the realm of predicting neurological diseases like Alzheimer’s. If a genetic test indicates someone is likely to develop Alzheimer’s — and even goes so far as to give that person an idea of when they will begin to develop symptoms — it could give them time to prepare. How would the timing of that information impact how a person lived their life?

If an adult was told they would develop the condition within the next decade, they would probably be grateful to have the time to make arrangements with their families and caregivers about certain wants and needs. But what if someone learned that information at age 25? At 15? Or if people had to live their entire lives with the knowledge of their inevitable cognitive decline because they were assigned an “Alzheimer’s score” the day they were born?

These questions will largely be informed by the rate at which effective treatments are developed for the diseases that genetic tests are screening for.

It may be that, by the time we receive a “genetic report card” in childhood, the options for treating (if not reversing) age-related diseases may mean our risk score hardly troubles us at all. But between now and that time, there will be a great deal of uncertainty — thanks to our knowledge of our health fates outpacing our ability to combat those fates.

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Nebula Genomics Will Let You Rent out Your Genetic Information

Sequencing Subscription

When the human genome was sequenced for the first time in 2001, the project cost $ 1 billion, as per a report from Nature – but today, individuals can undergo the same process for around $ 1,000, and prices are set to drop even further. Nebula Genomics, a start-up co-founded by genetic sequencing pioneer George Church, wants to give people an even cheaper option.

Nebula is using blockchain technology to construct a platform that lets customers reap the benefits of making their genetic information available to researchers, while maintaining their privacy.

Individuals will send a saliva sample to Nebula, which is analyzed by the company. From there, other entities are free to pay a fee to access to the genetic information for research purposes, using a secure computation platform provided by Nebula. The data can be rented out over and over again, even to more than one buyer at the same time.

The system is based around a purpose-built cryptocurrency dubbed Nebula tokens. Companies would need to buy tokens in order to pay for access to people’s genetic information, and individuals would initially pay a small fee to have their DNA sequenced using the coin. The idea is that they would get the money back as their genetic code is purchased by researchers all over the world.

The Genetic Market

In the past few years, various other services have sprung up that give people the ability to learn more about their genetic make-up.

The likes of 23andMe and AncestryDNA don’t offer full genome sequencing, but they do use a similar business model in that customers are asked to consent for their data to be used for research purposes. Their information is then sold on, but they don’t receive any of the money.

Companies are racing to provide a cheap way for people to undergo this analysis because they want a greater insight into their background, or a better understanding of potential health risks. The data they’re amassing will be valuable for years to come, thanks to its applications in the development of new drugs and other medical research, so building up as large a database as possible now could have a huge payoff.

In an interview with The Guardian, Nebula co-founder Dennis Grishin suggested that its customers might be able to take advantage of this need for data by finding a third party (such as a research institution) willing to subsidize the initial fee.

The company hopes to have its service operational in the U.S. within the next six months, but there are some lingering questions about its privacy measures. The key is giving researchers the access they need in order to carry out their work, while still maintaining privacy and ensuring that the information can’t be exfiltrated from the system.

The computation platform at the heart of the system is crucial – and since Nebula will make its money from researchers paying to use that infrastructure, it should come as no surprise that the company is putting great efforts into making sure its security is rock solid. The startup is already collaborating with security experts that will help make sure that data are protected, anonymous and overall a good investment and research tool.

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A New Tool Uses CRISPR to Uncover Genetic Mutations and Infections

CRISPR gene editing has been making waves over the last few years, and it’s showing no signs of stopping. It’s expected to transform our lives in many ways; everything from correcting genes to creating healthier food.

In April 2017, a team of researchers from various universities, including the Broad Institute, MIT, and Harvard, debuted a CRISPR-based diagnostic tool. The tool enabled them to perform a number of diagnostic tasks, like identifying cancerous mutations and detecting viruses through genetic samples, such as saliva, blood, and urine.

The team has been working to improve their diagnostic tool, named SHERLOCK (Specific High-sensitivity Enzymatic Reporter unLOCKing), over the last 10 months. The team debuted the new and improved SHERLOCK in their research published this week in the journal Science. The latest version of the tool has better sensitivity and can quantify the amount of the virus or mutation in the sample. Even with the improvements, the team’s research demonstrated that they were able to maintain the original version’s rapid performance and inexpensive cost.

Both versions of SHERLOCK utilize a CRISPR-associated protein called Cas13. This protein can be programmed to target a specific part of DNA or RNA — be it a viral genome, genes that help bacteria become antibiotic-resistant, or those aforementioned cancerous mutations. Once targeted, Cas13 can cut that specific piece — which can sometimes cause the target to cut other nearby DNA or RNA segments.

SHERLOCK uses strands of synthetic RNA to create a signal after it’s cut. Cas13 will chop up this RNA after cutting its original target, releasing the signaling molecule. The end result is a reading that informs the user whether or not the initial target is still present.

Previously, SHERLOCK could only identify one genetic sequence at a time. The new version can identify multiple sequences, and doesn’t need as much of a genetic sample to do so.

“With the original SHERLOCK, we were detecting a single molecule in [one-millionth of a liter], but now we can achieve 100-fold greater sensitivity,” said Omar Abudayyeh, co-first author on the research, and an MIT graduate student at Broad Institute, in a statement. “That’s especially important for applications like detecting cell-free tumor DNA in blood samples, where the concentration of your target might be extremely low. This next generation of features helps make SHERLOCK a more precise system.”

SHERLOCK Paper Test Strips. First 2 strips are unused; middle three show negative readings; final three show positive readings. Image Credit: Zhang lab, Broad Institute of MIT and Harvard
SHERLOCK Paper Test Strips. First 2 strips are unused; middle three show negative readings; final three show positive readings. Image Credit: Zhang lab, Broad Institute of MIT and Harvard

In addition to the improvements made to SHERLOCK, the team has also developed a paper test that allows diagnostic results to be seen with the naked eye. The test uses visual cues similar to those seen in pregnancy tests. When a line appears in the SHERLOCK test, it signifies whether or not the target was detected.

Though new-and-improved, SHERLOCK isn’t ready for the real world just yet. Though Feng Zhang, senior author of the research, and a core institute member at the Broad Institute, believes the tool’s latest improvements have pushed it one step closer to practical applications — which could include a lot more than detecting mutations and viruses.

“[SHERLOCK] demonstrates potential for many healthcare applications, including diagnosing infections in patients and detecting mutations that confer drug resistance or cause cancer, but it can also be used for industrial and agricultural applications where monitoring steps along the supply chain can reduce waste and improve safety,” added Zhang.

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Here’s What We Know About the Crazy New Startup Where Scientists Use Crypto to Buy Your Genetic Data

If innovators have their way, you’ll soon start seeing blockchain beyond the realm of cryptocurrency. People have been thinking creatively about how to use the technology powering Bitcoin to do things like shake up how people vote or access their birth records.

Now, pioneering Harvard and MIT geneticist George Church (of CRISPR and mammoth-resurrection fame) has a new startup that plans to use blockchain technology for genome sequencing — but it’s not yet clear whether it will be popular enough to edge out the competition.

The startup, dubbed Nebula Genomics, seeks to change how companies handle an individual’s DNA. Though companies like 23andMe have become popular and thousands of people have gotten their genomes tested for things like their ancestry and health conditions they might pass on to their children, most people still haven’t had their DNA sequenced. Some of the reasons may be that the test is still fairly pricey, plus consumers aren’t assured much privacy in doing so.

That’s where Nebula thinks it can do better — consumer-patients can get paid for submitting their genomic information, and ensure it’s safe in the process, according to a white paper the company recently published.

Here’s what we know about Nebula’s plans so far. It’s simple, until it’s not:

  1. Companies like 23andMe and AncestryDNA are “middlemen,” acquiring people’s DNA, then selling it to pharmaceutical and research companies for millions of dollars. Nebula wants to eliminate them. In their place, DNA/data owners will interface directly with DNA/data buyers. There will be no “middlemen,” as Nebula puts it.
  2. Nebula will sequence the DNA itself, but it’ll be pricey, at least at first. Sequencing a single person’s DNA will start at $ 1,000, though Nebula expects it to drop to less than $ 100 “in a few years.”
  3. Owners don’t have to sell their information. After a person gets their results from Nebula, an app will allow them to “interpret their personal genomic data without sharing it with any third party.” As the app analyzes more DNA sequences, the information available to consumers will become more comprehensive.
  4. All data will be privately stored on Nebula’s network. Initial access is granted only to the owner, though they can give others access to it as well. Owners can also choose to store their data wherever they want, including on Dropbox.
  5. Organizations that want to buy users’ DNA have to be upfront about who they are, and all transactions will be recorded on the Nebula blockchain. It’s unclear if real names are required, or if something like “DNA_Enthusiast93” will suffice.
  6. Nebula tokens will be the sole currency on the network. Individuals use Nebula tokens to pay Nebula for their personal genome sequencing. Entities looking to buy genomic data will pay tokens to gain access to genome sequences, purchased with traditional currency. Interestingly, Nebula acknowledges that the value of Nebula tokens will decrease as DNA sequencing becomes cheaper. It’s still pretty unclear what this would mean for the network, or how exactly people will exchange tokens.
  7. Buyers, such as pharmaceutical companies or academics, can conduct surveys targeted at DNA owners and provide Nebula tokens in exchange. These buyers can also offer to pay an individual’s genome sequencing cost if the survey reveals information that is particularly interesting to the buyer.

Given the way genome sequencing industry currently works, integrating blockchain seems pretty revolutionary. But Nebula isn’t so unique, in fact— other startups such as EncrypGen, Luna DNA, and Zenome have indicated that they might build platforms for people to sell their own DNA, as Tech Crunch notes. The company won’t officially launch until later this year, giving the competition plenty of time to catch up.

A harder question to answer: will people trust paying with Nebula tokens? As STAT News points out, both bitcoin and Ripple have experienced sizable drops in their respective values in 2018, and bitcoin’s might even fall farther. The idea of investing in a new cryptocurrency that comes with an expiration date may be a hard sell.

And Nebula has some steep competition. Tests from 23andMe are popular, and incredibly simple (just give them your spit). The affordable $ 80 – $ 160 price is just low enough to seem worth it.

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Discover your ethnic origins with the $69 AncestryDNA genetic testing kit

Your ancestors await!

Get the AncestryDNA genetic testing kit for just $ 69 today on Amazon. We haven’t seen a deal on AncestryDNA’s testing kit since Cyber Monday. It used to sell for as much as $ 100 but ever since the holiday shopping season it has settled for a price around $ 80. Either way, this is a good deal that brings it down a peg.

This genetic testing kit uses your saliva to collect and analyze your DNA. After you send in your sample, the AncestryDNA people will analyze it and uncover your ethnic mix. It’s based on a DNA network that is six million strong and growing and covers more than 165 regions worldwide. This is one of the more popular testing kits out there and has 3.9 stars based on 2,454 user reviews on Amazon.

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