For those who are interested in learning more about where their family came from using a genetics test, but don't want all the other reports 23andMe offers, the company has a test for that. 

23andMe, a consumer genetics company, said Wednesday that it would now offer two versions of the test:

• The $199 version, which comes with both the health and ancestry components.
• The $99 version, which will just have the ancestry test.

23andMe noted that users could opt into full test if they want to later, but for an additional $125. The ancestry test is essentially what 23andMe offered before it relaunched its health and wellness components last year. The $99 price tag is the same as AncestryDNA's test, which also genotypes your genes to help trace your geographic roots. 

In it, users will get access to reports that break down the Ancestry Composition (which regions your genes most closely align with), haplogroups (a genetic population that shares a common ancestor), and a person's Neanderthal ancestry. They will also get access to the DNA Relatives tool, something 23andMe users can opt into that connects users with one another and shows if they have close or distant relatives in the system.

Here's an example of an Ancestry Composition report. 

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

DON'T MISS: I shipped my spit to AncestryDNA to see how much I could learn from my genes — and found out my family history is more complex than I thought

Join the conversation about this story »

NOW WATCH: The DNA in your body stretches 12 times farther than Pluto

Color Genomics, a genetics testing company that for $249 wants to tell you if you have the genetic mutations that could predispose you to certain types of cancer, just raised another $45 million to help it get its tests into more people's hands.

The series B round is led by General Catalyst. Color previously raised $15 million — bringing the total raised to $60 million — from investors including Laurene Powell Jobs' Emerson Collective, Khosla Ventures, and 8VC, who are all also participating in this funding round. Bono, of the band U2, is also investing in the new round.

Color will also be adding Hemant Taneja, managing director at General Catalyst, and Susan Wagner, BlackRock co-founder, to its board. 

Color CEO and co-founder Elad Gil told Business Insider that General Catalyst was a good fit for the round because of its expertise in apps like Snapchat and Stripe, as well with medical diagnostic startups. "They cover both sides of the spectrum," he said. 

That mix is something that Color's known for, too: Gil and President Othman Laraki both worked at Twitter for a number of years.

Color launched its test in April 2015 and now offers an updated test that looks at 30 genetic markers, or parts of our DNA that have been linked to certain conditions. These genes are linked with a higher risk of developing, breast, ovarian, colorectal, melanoma, uterine, pancreatic, prostate, and stomach cancer. (The company has a white paper explaining how they validated the accuracy of the test's results using 500 samples, though none of the markers can predict a future diagnosis with any certainty; they only measure elevated risk)

Knowing what mutations you have is a key part of understanding your risk of getting certain types of cancer, a highly complex science that researchers are still teasing out. Lifestyle factors, like how often you exercise and what you eat, play a major role in your risk for cancer, but tests like those Color offers look only at your genetic risks.

For example, the risk of getting breast cancer goes from 7% to an average of 55-65% when you have the BRCA1 or 2 gene mutation. Knowing you have one of these genetic tweaks, then, could ostensibly help you make more proactive decisions, like getting more frequent cancer screenings or eating healthier (though few cancer-related genetic risks are understood quite as well as the BRCA gene mutation).

For healthy people, getting genetic tests that are not required or suggested by your doctor does have some risks. Results can be worryingly ambiguous, and there can be false positives, leading to anxiety, stress, and even unnecessary interventions.

With the additional funding, Color has a couple of things in the works: first, it's offering $50 tests for people who have a direct family member with an inherited cancer gene mutation (regardless of whether that family member got his or her report through Color or another genetic test). Gil said the hope is to provide these discounted tests to thousands of families. (While $50 is a deep discount, for women with a significant family history of breast cancer, the BRCA test and associated genetic counseling is actually something that insurers are required by the Affordable Care Act to cover.)

Color's also teaming up with the BRCA Foundation to launch a BRCA gene registry, so that people who have the BRCA mutations can opt in and be contacted for future research or clinical trials. 

How a Color test works:

1. Call your doctor. Because it gives out some serious medical information, Color requires that you have a physician involved. If you don't want to include your own doctor, Color will link you with an independent physician who'll evaluate your information and assign you a test — if they decide it's the right move. Either way, you or your doctor can order the test directly through Color's website. 
2. After registering online, you'll get a testing kit in the mail. 
3. Collect your spit, like you would with many other genetics tests. It might feel a bit awkward.  
4. Send in your spit for Color to analyze. They'll return the results to you and your doctor.
5. Still want to learn more? Color provides a free genetics counselor to discuss your results further as part of its process.

SEE ALSO: A startup that wants to change how we care for seniors just raised another $42 million

CHECK OUT: Why this biotech startup is going after rare neurological diseases

Join the conversation about this story »

NOW WATCH: Doctors now say this type of cancer isn’t actually cancer — and the new classification is changing thousands of lives

A baby containing the DNA from three different people was born, New Scientist reports.

The baby boy, born five months ago, is the first baby born using a particular technique, called spindle nuclear transfer.

Three-parent in-vitro fertilization (IVF) was approved in the UK back in 2015, but the team from the New Hope Fertility Center in New York performed the procedure in Mexico. The team told New Scientist they did it in Mexico because "there are no rules," unlike in the US, where it is still up for consideration but hasn't yet been approved. 

Some diseases — including Leigh syndrome, which is the fatal neurological condition this particular baby's parents were trying to avoid — are passed through the DNA of the mitochondria, the part of the cell responsible for generating energy. These genes only get passed down from the mother.

The idea is to substitute that faulty mitochondrial DNA in a mother's egg with a third set of DNA from a donor's egg to avoid these inherited conditions. That's where you get the "three parents": the father (sperm), mother (egg, with faulty mitochondrial DNA removed), female donor (mitochondrial DNA).

Three different techniques to do this have been studied so far: 

• The first, called cytoplasmic transfer, was used in the 1990s, but in 2002, the FDA put the brakes on the procedure, citing safety and ethical concerns, the BBC reported. Several people were born using the procedure before it was halted.
• The second is called pronuclear transfer, and it involves swapping nuclei after both the mother's eggs and donor's eggs have been fertilized. The scientists discard the donor egg's nuclei and put the mother-father nuclei into the donor's egg. This newly combined embryo is the only one to mature.
• The one these parents used is called "spindle nuclear transfer," a way of combining the donor's mitochondrial DNA with the mother's nucleus so that an embryo doesn't have to be destroyed.

Less than 1% of the baby boy's mitochondria carry the faulty DNA, the researchers told New Scientist, which is ideally too low to cause any problems.

SEE ALSO: This company is trying a radical approach to reverse a rare form of blindness

DON'T MISS: A startup that tries to gauge your cancer risk just raised another $45 million

Join the conversation about this story »

NOW WATCH: Scientists discovered something 'shocking' that could rewrite a key part of human evolution

Andrew remembers feeling a “tinge of apprehension” when he logged on to 23andMe.

Several weeks earlier, he’d spit into a tube and mailed it to the genetic testing company, which analyzes customers’ DNA to estimate where their ancestors came from.

But when he clicked on his color-coded ancestry chart, he felt relief: 99.7 percent European.

He went to the Reddit page /r/WhiteRights, where he’s a moderator, and posted a screenshot: “Finally got around to checking my privilege,” he wrote. At the bottom of the chart, he’d photoshopped in an extra line: “100% Goy.”

“There’s kind of a running joke that everyone works for the JIDF [Jewish Internet Defense Force] or is secretly nonwhite,” explained Andrew, who says he’s a 31-year-old lawyer from Washington, D.C. “So when I posted my 23andMe results, I was playing off that.” (Andrew posts on Reddit as slippery_people, but, like quite a few of the white nationalists I’ve spoken to, he doesn’t want his real identity associated with these views.)

“Everyone” means those posting across the anonymous alt-right digital world — in subreddits, on 4chan, and on other message boards where threads about genetic testing show up several times a week. This loose group of mostly young white men are tech- and media-savvy and not particularly religious, oppose immigration, and may support more extreme steps to make America whiter, such as repealing the 14th Amendment, which guarantees birthright citizenship.

They often feel like it’s a thoughtcrime to take pride in white identity, and they want a safe space to celebrate it. They are some of Donald Trump’s loudest supporters on social media, especially on Twitter.

23andMe’s services were initially quite expensive — $999 for consumer genetic testing when the company was founded, in 2006.

But in late 2012, itdropped the price for ancestry testing to $99, and not long after, screenshots of DNA testing results began appearing on white nationalist message boards — first on Stormfront, then occasionally on subreddits related to white nationalism, and most frequently on 4chan’s “politically incorrect” board /pol/, from which many alt-right memes originate.

These screenshots help posters prove their own whiteness, or serve as an invitation to trash-talk others.(“Eastern European? LOL you’re not even white.” “nice bait, i have blond hair and blue eyes. whiter than you’ll ever be.”)

On the alt-right, the concept of “redpill” is important. It comes from the scene in “The Matrix” when the protagonist must choose between the blue pill (comforting illusion) and the red pill (horrific reality).

To the alt-right, being redpilled means being stripped of politically correct illusions about diversity and buying into ideas that run on a spectrum from opposition to immigration to full-on white supremacy.

And if you believe in the superiority of European culture and white people, then it follows that one of the most important facts you should establish is that you are white yourself.

Sometimes these threads are mostly a joke. Much of the alt-right emerged from message boards that highly prize shock value — a joke about a sacred idea or an unspeakable tragedy, something like the recurring line, “The Holocaust didn’t happen, but it should have.”

Even people who’ve spent years playing the troll game tell me they often don’t know whether someone is ironically racist or actually racist.

So when someone posts a 23andMe screenshot and asks users to rate his whiteness, it’s meant to be funny, as are comments telling him “gas yourself” because his results show a tiny percentage of Ashkenazi heritage.

But sometimes the 23andMe threads devolve into a deep discussion (or a flame war) about what it really means to be white, underscoring what a slippery concept race can be.

Before he did 23andMe, Ken Mylott says, he had “no racial consciousness at all. No sense that I had 50,000 years of European history I’m carrying around in my genes.”

But then Mylott, a high school speech language pathologist in Broward County, Florida, started talking to others in the alt-right. (He’s retiring soon, and he says one of his post-retirement goals “is to not be a coward, and be fearless” when talking about his political views.

So he’s willing to use his real name.) He thinks members of the alt-right, who want to promote a strong white ethnic consciousness, are more likely than the average person to do genetic testing and encourage others to do it too. “So I said, ‘Hey, this is within my budget; I’ll do it.’ And it really was an eye-opener.”

Genetic testing results are not always convenient for the white nationalists’ identity politics. A July post on 4chan began, “Finding out I’m not white.”

The poster recounted an ironic life story: “always think I’m Swedish, Germanic and white as fuck… grow up to be a white nationalist, worshipping Hitler etc … grandparents get old and start doing family research … turns out I’m 25% ethnically Russian, 50% ethnically Finnish and 25% ethnically Sami … MY LIFE HAS BEEN A LIE WHERE DO I GO FROM HERE? DO I MOVE TO FINLAND?”

(Once you have your heart set on a certain race being superior, you have to decide who counts as a member of that race. There is a 4chan meme that Finnish people aren’t white, which causes some Finns distress. Others have argued Spaniards and Slavs aren’t white.)

Andrew, the D.C. lawyer, showed me a thread from last December, by someone he called “one of the most notorious members of /r/CoonTown,” a subreddit banned by Reddit in August 2015 amid an updated content policy. A user named “eagleshigh” reposted his ancestry chart on voat.com, on a board that replaced the banned subreddit.

“Oy vey. My ancestry dna results are back,” Eagles wrote, linking to a chart showing 7 percent African ancestry and 22 percent Native American. Someone reassured him, suggesting he hadn’t come by the genes by choice: “There is no way that anyone’s lineage avoided rape. While there is no way to prove that, I am positive it’s true.” Another said he was “deffo mostly White.”

Mylott says that while it wouldn’t have bothered him if his results had come back “89 percent European” with a mix of something else, “I do see occasional trepidation among people in the alt-right on the net, and they’re worried about, ‘Well, what if this comes back and I’m partly sub-Saharan African or whatever?’”

His 23andMe results showed Scandinavian ancestry he’d had no clue about. It gave him a vivid picture of his ancestors struggling through eight-month winters.

He uploaded his results to another site, Promethease.com, which gives even more information about a user’s genes. (They must first click a disclaimer that says, “I realize that most published reports about DNA variations explain only a small part of the heritability of a trait, and they also don’t take into account how different variants might interact.”) Promethease showed he had a gene that limits oxytocin, a hormone that helps humans bond, thought to have evolved among humans in Northern Europe, where the mortality rate was high. It made perfect sense to Mylott.

That’s why he “can very easily disengage from relationships if they’re not going well, and the next day be whistling like nothing happened,” he said. “The only reason I have this characteristic, which has affected until this day in 2016 my relationships, is because for thousands of years my ancestors lived in an environment that was covered in ice!”

But where Mylott found a sense of personal history, political consciousness, and an understanding of his personality in his 23andMe results, much of the obsession with genetics and ancestry, in the end, comes down to sex. (The alt-right’s first big splash into the mainstream was with the term “cuckservative,” a conservative who’s been cuckholded by minorities.) TheApricity.com is not explicitly political but rather a “European cultural community.”

Like on many older message boards, members can list age, gender, and location, as well asseveral ways of describing their ethnicity, various DNA markers, and supposed ethnic phenotype. Not every member is white, and not every postimplies white supremacy.

But there are countless threads classifying people, usually women, into various European phenotypes, and many about whether a particular person or ethnic group could “pass” as white. (“Can Mandy Moore pass as a full European?”)

Some posters are worried about successfully passing on their white genes. A 4chan commenter posted in July: “[that feeling when] pure white, 100% European DNA … [that feeling when] will end my bloodline because I’m a shut-in virgin autist.”

“We alt-right types may have more at stake in our genetic results than the average deracinated Western white,” Andrew said. “I mean, I can easily picture a white millennial hoping in earnest to find an exotic branch in his family tree.”

23andMe does not test for race. Its main business now is ancestry testing, after some early trouble with the FDA over claims the service could mine your genes to determine risk factors for disease.

The company, based in Mountain View, California, received an investment from Google in 2007, a year after its founding. It got another boost in 2012 when PBS began running “Finding Your Roots,” a show where celebrities traced their ancestry with genotyping from 23andMe.

By June 2015, the company had analyzed the DNA of 1 million customers, though it has faced somecriticism for not having a large enough sample of DNA from people who do not have European heritage.

23andMe analyzes customers’ DNA in two ways. First, it tests their mitochondrial DNA — tracing their mother’s mother’s mother, etc. — and, if the customer is male, his Y chromosome, tracing his father’s father’s father, etc. Because these parts of human DNA are passed down from one parent, it’s a way to test a small piece of a person’s ancient ancestry.

Second, the company tests customers’ 22 pairs of non-sex chromosomes, plus the X chromosome, against its reference data sets, genetic information from modern humans all over the world. “These are present-day individuals, but we’re trying to capture the world as it was before the massive transcontinental migration that’s happened over the last 500 years,” Kasia Bryc, a population geneticist for the company, explained. That’s why some people read a result that says 80 percent European as 80 percent white. But it’s not that simple.

Even those whose results are mostly European often have trace ancestry from other parts of the world. “As much as 10 percent of European-Americans from the South carry small levels of African ancestry, a few percent,” Bryc said, based on the company’s study of 160,000 customers.

Those with less than 28 percent African ancestry were more likely to identify as white, and those with more were more likely to identify as black.

Bryc found that European-Americans living in states with the highest numbers of African-Americans were more likely to have African DNA, specifically West African, “which is consistent with the historical slave trade,” she said. “The correlation there is basically that people are mixing if they’re in the same area. And that’s sort of the story of humans in general.”

Terence Keel, an assistant professor of history and black studies at the University of California–Santa Barbara, studies the relationship between culture and race within science. He says these present-day white nationalists are reproducing very old ideas about race, perhaps due to anxiety about their place in the social order in an era of the first black president.

“Geneticists, after looking at the human genome, realized something we’ve thought for a while, which is there’s not a direct correlation between the external things we see — height, skin color — and the genes,” Keel said. “Once we sequenced the genome, we also discovered humans are about 99.98 percent the same.” Only about 10 percent of genetic variation is between what we traditionally think of as races.

“There are two ways to look at genes. One way is they are like locks that come from God that explain and determine who we are,” Keel said. “The other way is to look at genes as the canvas that records the social and biological history our ancestors went through.” White nationalists, he says, are looking at genes the first way and seeing whites as the smartest, tallest, most morally upright because nature, not society and culture, made them that way. “This happens when groups are trying to justify their social position. If nature creates an order, our politics should mirror that order.”

There’s a long history of people starting from an assumption of white supremacy and then reverse engineering a scientific justification for it. In the late 18th century, German physician Johann Friedrich Blumenbachintroduced the term “Caucasian” to describe Europeans.

He argued that the first humans were white and all other races were the result of degeneration, from climate or poor diet. In the 19th and early 20th centuries, American eugenicists worried that immigrants of “inferior stock” from Southern and Eastern Europe would dilute the old stock of Northwestern Europeans, and argued for sterilization. In North Carolina, more than 7,000 people were sterilized between 1929 and 1976. California sterilized about 20,000 people. Eventually 32 states had sterilization programs. Even Hitler was impressed.

Some white supremacists interpret more contemporary scientific breakthroughs about the human genome as further evidence for white superiority, even when it’s counterintuitive. In an article for GeneWatch, published by the Council on Responsible Genetics, Keel noted “Just days after the discovery of the Neanderthal genome,” Stormfront commenters “claimed Neanderthal DNA was responsible for the ‘intellectual supremacy’ and ‘physical prowess’ of Europeans.”

“Historically, we don’t think of the Neanderthals as very sophisticated, very evolved,” Keel said. (Think of old Far Side cartoons.) “The discovery that the citizens of Eurasia may have up to 3 percent Neanderthal DNA changes our perception of them, because at one point our ancestors got in bed with them and had kids.”

When you live in a world of trolls, you see trolls everywhere — you imagine the world is full of people creating fake personas and making insincere statements to sway public sentiment and for personal entertainment. Being in on the joke that everything’s a joke has the unexpected effect of making you paranoid.

As Andrew noted, a recurring joke within the white nationalist and alt-right world is that everyone is secretly Jewish. /pol/ threads often accuse users of being paid trolls for Hillary Clinton. “Prior to the election I rarely saw any of these ‘23andme’ threads, and when I did it wasn’t to compete to see who was the most white; it was just sharing the heritage you didn’t know you had with others,” a longtime 4chan user told me. When I showed him a thread I thought looked too pat to be true (“To find out I’m 15% black is killing me inside”) he responded, “It could be real. Sometimes even the most veteran 4chan users can have a tough time distinguishing between troll or not troll.”  

Naturally, some alt-righters suspect 23andMe is trolling them, too. One conspiracy theory holds that the company artificially claims customers have sub-Saharan African DNA as part of a hidden agenda to promote diversity. A 4chan user wondered in September, “Have you guys ever thought these test results to be fabricated? Like any pure Aryan person can have their information tampered to make it so they believe that their DNA carriers that of other races?

What if they’re tricking people into self loathing and in a way making them more inclusive?” The entry for 23andMe on the racist conspiracy site Rightpedia claims,“This company likes to give people of European descent about a 1% nonwhite mongrelization, usually Subsaharan African.

They’re really just finding DNA common amongst all races of humans and assigning it as black.” An 8chan commenter asked for a DNA testing service“that’s not known to sprinkle ‘diversity’ into your results to perpetuate the ‘out of Africa’ myth.”A Stormfront user wrote that 23andMe is “rigged” in order to “spread multiculturalism and make whites think that they are racially mixed.”

When I asked Bryc about this conspiracy theory, she was shocked. “We have an algorithm. It’s a very robust machine learning algorithm, and what the results are, are the results that you get.” Andy Kill, who works in media relations for 23andMe, stepped in: “We can unequivocally deny that. 100 percent.”

Join the conversation about this story »

NOW WATCH: GOP STRATEGIST: Why you should stop referring to 'white nationalists' as the 'alt-right'

Veritas Genomics, a biotech company that wants to sequence and analyze your entire genome for $999, just got another $30 million to pull it off. 

Trustbridge Partners led the Series B round, and Lilly Asia Ventures (which had invested previously) and Jiangsu Simcere Pharmaceutical also joined in. In total, Veritas has raised $42 million. 

The company was co-founded by Harvard Medical School biologist George Church (also known for his work with the gene editing technology CRISPR and his help in initating the Human Genome Project). Veritas CEO and co-founder Mirza Cifric told Business Insider that since launching the $999 genome test in March, the company's been busy with a "more than expected number" of genomes to sequence.

Here's how it works: On Veritas' website, you can go in and get started with ordering a test. However, your doctor has to be the one that prescribes the test — Veritas won't provide one for you. Once the forms are filled out and you pay $999, you're on your way to getting your entire genome mapped out. Once it's all analyzed, that information can be accessed online.

Your entire genome is filled a whole lot of information — including a lot we're not entirely sure how to interpret just yet. Most genetics tests out there mainly focus on gathering up single-nucleotide polymorphisms (SNPs for short) that are specific mutations that have been linked particular traits or conditions.

For example, a test for mutations on the BRCA breast cancer gene looks specifically at those mutations (a test Veritas also does for $199 for those who don't want to opt for the full genome experience). Getting your entire genome sequence is a much larger endeavor.  

Veritas is seeing a lot of interest for these types of genetics tests around the globe, where people are willing to pay directly for the tests. Cifric noted that with the higher out-of-pocket costs people in the US are already paying, that could change sentiments in the US, too. 

"We're maintaining the point of view out-of-pocket affordability is the right way to win in the US as well," Cifric said.

Where Veritas thinks it can be a reasonable alternative is to genetics tests that look for a specific number of genes but cost a few thousand dollars (which, depending on the insurer, the cost might not fall directly on the person getting that test). "The genome is the obvious choice, because you get that and lot more," he said.

However, Veritas does recognize that there's still a whole lot we don't know how to interpret all 3 billion base pairs we've got in our genome. But, with more information coming out all the time about what our genes can and can't tell us, the hope is to get people interested for the long haul. 

"It's not just about getting the customer to have their genome sequenced," Veritas' recently hired chief marketing and design officer Rodrigo Martinez told Business Insider. "It's about, how do you keep people interested and engaged."

Veritas says the funding round will go toward making a platform where people can access their reports and genomic data in a more user-friendly way, so that it feels less like something you'd see at the hospital and more like an experience you'd have every day. The investment will also be used to expand the company's global presence.

SEE ALSO: A startup that tries to gauge your cancer risk just raised another $45 million

SEE ALSO: 23andMe is now offering a $99 genetics test again — but it's very different from the original

Join the conversation about this story »

NOW WATCH: What happens when a tarantula meets its worst predator — a tarantula hawk

I'm no stranger to consumer genetics tests. 

I've done ones that told me where my ancestors came from, ones that tried to advise me how to eat and exercise, and of course, 23andMe's test.

But until now, I hadn't come across one that would tell me if I had "superpowers."

So, when I heard about Orig3n, a biotech company that offers such a test, I had to test it out. And, at just $29, the test was by far the cheapest one I've tried out so far.

Here's what I learned.  

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

DON'T MISS: I tried a genetics test that told me how I should eat and work out based on my DNA — and it was frighteningly accurate

This is the "LifeProfile Superhero" test kit, complete with comic-book-looking DNA on the front. Orig3n, the biotech company that makes the test, got the idea after visiting a lot of comic conventions.

Orig3n's main gig is working with induced pluripotent stem cells (stem cells that are found in the blood that are made to behave like embryonic stem cells). Orig3n stores these cells in a biorepository, which can then be used by the consumers who store them in there, or by researchers who are trying to learn more about certain diseases. Orig3n goes all across the country collecting for this biorepository, stopping at conventions, sporting events, and concert festivals to collect samples. 

And as the company's staff was analyzing the genetics of those samples, they realized they could look into performing consumer genetics tests.

Orig3n's CEO Robin Smith told me the reason they're able to keep the costs so low is they run the tests on technology they developed themselves. 

And they're doing a lot of these tests: At a conference over the weekend, they were able to churn out 450 genetics reports in just a matter of days. Typically, spit-test results don't come back for a few weeks. 

"What we’re doing is not just a back-office science project. We're the only company out there interfacing our biotech lab with a direct to consumer informational business," Smith said.  

Inside the box, I found a swab and instructions (along with an inspirational quote from Abraham Lincoln).

For this test, I had to swab the inside of each of my cheeks.

Helix, a company that wants to act like an "app store" of your genetic code, just landed another partner that will build one of the first apps on the platform.  

The startup launched August 2015 with $100 million in funding from Illumina and other partners. 

Every time you do a DNA test, 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 10 different places for 10 different tests, you could just let companies access your genetic code. That way, companies could just develop the apps that analyze your DNA to give you the insights you're looking for (where does your family come from, or do you have a mutation that predisposes you to a certain cancer) without the cost of developing a lab.

When Helix got started last year, the team announced that partners including Mayo Clinic, Duke University, Lab Corp, and GoodStart Genetics would be building out tests for the Helix platform.

Now, Invitae, a company that's been in the genetic testing space for the last six years, wants to get in on the platform too. It's developing health tests that will look at common genetic risk factors, something its CEO says could be useful for generally healthy individuals. (Its standard tests, which Invitae runs on its own platform, are mainly targeted at people at high risk for certain heart conditions, genetic diseases, or cancers.)

"We're taking all of this very sophisticated technology that we built for the mainstream, high-risk diagnostic market," Invitae's CEO Randy Scott told Business Insider. "But[using the Helix platform] ... a healthy individual can get a low-cost scan where we can at least pick up the most common, actionable mutations for cancer and cardiovascular disease and provide that information to patients."

The tests will still have to go through your physician, and will likely cost less than $200, Scott said.

SEE ALSO: I took a $30 test that told me if I had 'superhero' genes — and it was by far the most fun test I've taken

DON'T MISS: A genetics company that wants to sequence and analyze your entire genome for $999 just raised another $30 million

Join the conversation about this story »

NOW WATCH: 5 childhood events that have a great impact on who you are

A new wine delivery service called Vinome is promising to deliver “the ultimate personalized wine experience” — customized to your DNA.

There isn’t much (or, really, any) science to back it up. But it’s got a very big name in its corner.

Vinome just inked a deal with a startup called Helix, which in turn is backed by the world’s biggest DNA sequencing company, the powerhouse known as Illumina. For the past 15 years, Illumina has been selling machines that can quickly decode the human genome. Medical researchers around the world use them. But the company wants to conquer the consumer market, too. That’s why it spent $100 million to launch Helix, which teams up with app developers who can find creative ways to use a customer’s genetic data.

Such as selling them wine.

For about $65 per bottle, Vinome promises to pick out “great wines that are perfectly paired to you” based on an analysis of 10 genetic variants in your DNA, collected via saliva samples. The company — which is based, of course, in Northern California’s wine country — even incorporated the distinctive double helix of DNA into its logo of a corkscrew.

Medical geneticist Dr. Jim Evans isn’t impressed.

“It’s just completely silly. Their motto of ‘A little science and a lot of fun’ would be more accurately put as ‘No science and a lot of fun,’” said Evans, who’s a professor and researcher at the University of North Carolina.

“I’d put this in the same category as DNA matching to find your soulmate,” he said. “We just simply don’t know enough about the genetics of taste to do this on any accurate basis.”

Vinome is just one in a growing wave of targeted consumer genetic tests, which promise to deliver insights about nutrition, weight, and athletic training based on analysis of cheek cells, blood, or saliva. The tests could greatly expand the market for DNA analysis, to the benefit of companies like Illumina, which lately has been struggling to meet sales forecasts.

But public health experts see reason for concern. There’s rarely a straight line between a genetic variant and a complex trait like fitness, weight — or affinity for a good merlot. A complex interplay of genes and environmental factors shape our lives.

“Elevating genes to this kind of status for these kind of complex traits can be inappropriately distracting” from the important social and environmental causes of problems like obesity, said Tim Caulfield, a health policy professor at the University of Alberta who studies consumer genetic testing.

(On top of that, he said he saw a certain irony in adding a “deterministic vibe” to wine drinking. “It seems like the last place you’d want it,” he said. “I hope they don’t do that with beer.”)

‘Arguably defensible’ science

Vinome acknowledges the skepticism, but CEO Ronnie Andrews says he’s sure they’re on to something.

His team includes scientists with backgrounds in molecular diagnostics and cancer genomics.

“Listen, we wouldn’t risk our reputations to launch something in this space … if we didn’t feel like we had something that was arguably defensible in terms of the science, but more importantly would present an incredible experience and a fun experience,” said Andrews, who has formerly held executive roles at General Electric Healthcare and Roche.

The company soft-launched online in May and says it’s already shipped about 300 bottles of California wines to dozens of customers. (The minimum purchase is three bottles —  plus genetic testing —  for $199.)  The official launch will come this holiday season.

Next year, Vinome will roll out an app in partnership with Helix. In a statement provided to STAT, Dr. James Lu, Helix’s senior vice president of applied genomics, said his company “is excited to partner with Vinome because of their novel, fun and modern approach to building a wine recommendation algorithm.” Lu also compared Vinome to Netflix.

A promotional video on Vinome’s website features four people enjoying a picnic — with wine, of course — under a beautiful canopy of trees. “Most things are best when the guessing stops,” the narrator intones — just before a woman with light hair is matched with “aromatic, floral, bright whites” and a man with dark hair is matched with “powerful, textured, bold reds.”

Where do such recommendations come from?

Vinome surveys customers about their taste preferences and looks at their genetic variants in genes such as TAS2R38, a taste receptor. A small body of research suggests variations in markers on that gene can affect whether people can taste a bitter chemical found in certain vegetables — and as a result, whether they like Brussels sprouts.

Cofounder and lead scientist Sara Riordan acknowledges that her team found “virtually nothing” in the scientific literature that linked DNA variations with affinities for certain wines. Even the general literature on the genetics of taste and smell is “pretty small,” she said.

So Vinome decided to gather its own evidence. The team analyzed about 40 genetic variants across about 500 people. Then they had participants taste and rate a dozen wines and fill out a survey about their taste preferences.

The taste test was not designed with a control group — which is generally considered essential for reliable scientific evidence.

But all of it was enough to win over Helix. (Helix “understands that there are no genetic studies that show genetic polymorphisms related to individual wines,” Lu said. He also said Helix takes “the underlying scientific content in each of our products very seriously” and noted existing literature on taste genetics as well as the statistically significant associations found in Vinome’s taste test.)

Vinome has gone ahead and filed for patents and plans to try to publish its findings in a scientific journal, Andrews said. He’s not deterred by critics who point out that the science behind his venture is flimsy at best.

“I hear the skepticism,” Andrews said, “but those people just aren’t wine fans.”

SEE ALSO: There’s even more evidence that one activity could help slow the aging process

DON'T MISS: The 'app store for genetics' just landed another major partner

Join the conversation about this story »

NOW WATCH: There is a secret US government airline that flies out of commercial airports

Browse the published research from 23andMe, and you may be amazed by how much the genetic testing startup has discovered in a few years.

Send in your spit and take a few surveys, and you'll get an idea of how much more is coming.

Since launching in 2006, 23andMe has collected and analyzed DNA samples from 1.2-million customers, with the majority allowing their data to be used in research. Although facing controversy over (past) FDA concerns, (current) partnerships with pharmaceutical companies, and (future) plans to develop its own drugs, the billion-dollar company has always said its mission is to help people access, understand, and benefit from the human genome. There’s no doubt it has made contributions there.

One of 23andMe’s biggest discoveries came this summer with a paper linking 17 genetic tweaks, or SNPs (pronounced "snips"), that appear to be tied to one's risk of developing Major Depressive Disorder (MDD). Past attempts to identify genetic connections with depression were extremely limited, largely because other researchers didn’t have enough data.

"Everyone is recognizing that this is a numbers problem," Ashley Winslow, director of neurogenetics at the University of Pennsylvania, told MIT Tech Review. "It’s hard if not impossible to get to the numbers that we saw in the 23andMe study."

"My group has been chasing depression genes for more than a decade without success, so as you can imagine we were really thrilled with the outcome,"Harvard psychiatry professor Roy Perlis, one of the leading authors of the paper and the Associate Director of the Psychiatric Genetics Program at Massachusetts General Hospital, told Business Insider.

Studies like this could help pave the way to better understanding and treatment of diseases. In fact, 23andMe was also involved this summer in a study focused on the treatment of depression, which linked one gene variant to lower efficacy in one drug.

23andMe is, of course, far from the only group doing research in this field: thousands of genome-wide association studies have been published in recent years. Where the company stands out is in its extensive use of surveys as an easy yet effective way to get data.

23andMe has "proven that volunteer-reporter phenotypes give much the same results as information collected in more traditional ways," Teri Manolio, Director of Genomic Medicine at the National Human Genome Research Institute, wrote in an email.

How much the company has contributed beyond that is a matter of opinion.

Manolio said the company has not played a large role so far, though she also said it had probably done more than other personal genomics companies and that it might play a larger role in the future.

Peter Visscher, chair of Quantitative Genomics at the University of Queensland, was more positive. "23andMe has been an important player in research involving genome-wide association studies (GWAS)," he wrote in an email. "23andMe has contributed significantly to discoveries of new genes across a range of traits and diseases, including, for example, educational attainment and Parkinson’s Disease."

He also noted that the company could be a lot more helpful by sharing additional data with researchers.

23andMe has so far discovered hundreds of genetic links to traits, including parts of DNA that relate to freckling, sneezing, hair loss, not liking the taste of cilantro, smelling asparagus in your pee, allergies, asthma, motion sickness, emotional response, age of puberty, bone density, myopia, hypothyroidism, problem drinking, sleep habits, neuroticism, Parkinson’s, cancer, and more.

The company has also helped establish links between DNA and education attainment, show a wider risk of neurodegenerative diseases, introduce new tech for analyzing Parkinson’s and neurodegenerative diseases, and more.

Then there’s the stuff that’s yet to come. 23andMe members are invited to click through hundreds of questions, asking them about everything from narcissism to math skills, nail biting to vocabulary. Many of these traits haven't been tied to genetics yet but could be some day.

23andMe currently provides a lot of genetic information for $199 to customers who send in a tube of spit. Some of that info is just interesting, like how much Neanderthal DNA people carry, where their more recent ancestors came from, and how likely they are to have dark hair, freckles, and a preference for salty snacks. Some of it is medically important, like whether they carry potentially dangerous variants for things like cystic fibrosis and sickle cell anemia.

Director of Clinical Development at 23andme, Erynn Gordon, told us the company is continually adding more traits to client reports, as well as publishing research. Take misophonia, the genetically linked characteristic of getting annoyed by hearing other people chewing.

"I don’t think it’s out yet, but that might be something that you would see in the future," Gordon said.

The ability to sing in tune or clap in rhythm? Attractiveness to mosquitos? Difficulty hearing conversations in loud areas? These are all things that 23andMe asks about, meaning they are things the company can begin to analyze, figuring out where genetics matter and how.

"We’re just scratching the surface of our understanding," founder Anne Wojcicki said earlier this year.

What will the company do with all its new info? Good, we hope.

DON'T MISS: These clever photos show how much people look like their parents

SEE ALSO: Scientists still can't figure out Lucky Charms

Join the conversation about this story »

NOW WATCH: How to make it out of a free-falling elevator alive

The president of 23andMe, a consumer genetics company, is stepping down.

Andy Page, who has been at 23andMe since 2013, will remain on the company's board, while all of his direct reports are going to report to CEO Anne Wojcicki, according to a letter sent to employees obtained and first reported by Recode. 

"Departing 23andMe is bittersweet for me," Page said in an emailed statement to Business Insider. "On one hand, I will miss the adventures of being with all of the teams day-to-day. On the other hand, I am so pleased that I’ve been able to accomplish what I was brought in to do. I take deep pride in how far 23andMe has come in four short years, and that we are at a stage of strength and maturity where Anne can take the sole leadership role. It has been an incredible ride and I am looking forward to remaining active on the board and assisting the company however I can."

The news comes only a few weeks after Buzzfeed reported that the company won't be pursuing next-generation sequencing, a new, more expensive area of genetic testing that companies have been adopting.

23andMe's chief medical officer Jill Hagenkord left the company in October and is now working at Color Genomics, a genetics testing company that uses next-generation sequencing for its cancer screening tests, under the same title.

In September, the company also said that it would now offer two versions of the test, including a $199 version, which comes with both the health and ancestry components, and a $99 version, which will just have the ancestry test.

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

DON'T MISS: I shipped my spit to AncestryDNA to see how much I could learn from my genes — and found out my family history is more complex than I thought

Join the conversation about this story »

NOW WATCH: The DNA in your body stretches 12 times farther than Pluto

Ever considered taking a peek inside your genes?

Today it seems easy. First, sign up with a personal genetics company like AncestryDNA, 23andMe, or any of the more than a dozen American companies that currently offer the service. Then the procedure is pretty standard: Spit in a plastic tube, pop it in the mail, and wait for your results.

But how much can the average person learn from one of these tests? Can you really find out if you'll develop a disease like breast cancer or whether you'll pass that disease onto your kids?

To find out, we chatted with Robert Klitzman, a bioethicist and psychiatry professor at Columbia University and the author of the recent book "Am I My Genes?" And we learned that genes are, not surprisingly, complicated.

SEE ALSO: Scientists have discovered 5 personality traits linked with a long life

NEXT: I sequenced my DNA at a community lab in Brooklyn — and what I learned surprised me

In most cases, they can't tell you whether you or your children will develop a specific disease — even breast cancer.

Saying you have the gene "for" an illness typically means that one or both copies of a gene — you have two copies of each gene, one from each parent — has a mutation that's been linked with that illness. But having a mutated gene does not necessarily mean you'll develop that illness.

In 2013, Angelina Jolie wrote a column in The New York Times about her decision to have her breasts removed after she discovered she had a genetic mutation that dramatically raised her risk of developing breast cancer. She also had a family history of breast cancer.

About 10% of all breast cancers in the US are linked to the mutation Jolie had. About 90% of all breast cancers are not.

In other words, having the mutation doesn't necessarily mean you'll get breast cancer, but it does mean you're significantly more likely to get it — especially if you also have a family history of it. And not having the mutation doesn't mean you're risk-free. In other words, "you could have the mutation and not get it, or you could not have the mutation and get it," Klitzman said.

For psychological illnesses like depression or anxiety, the picture is even blurrier.

Many of our observable traits — from aspects of our personalities to the color of our eyes — cannot be narrowed down to one or two genes. This appears to be especially true for psychiatric characteristics like intelligence or illnesses like depression, said Klitzman. A 2014 study he co-authored published in the Journal of Genetic Counseling came to similar conclusions.

"For things like intelligence there's easily 100 different genes involved. So the notion that you're going to test for a few of them and that's going to be predictive, that's not reflecting the complexity of genetics and of the mind and brain," Klitzman said.

A 2015 study published in the journal Nature Neuroscience was the first to identify two networks — each of which contain hundreds of genes — that appear to play a role in cognitive function.

In order for one of these tests to really predict your risk of disease, it would have to account for two major factors: your environment and your behavior.

Genetics play a big role in whether we develop certain diseases, but so do our environment and behavior. Everything from what we eat to where we're raised and how often we exercise can affect our risk of developing certain diseases.

"Research suggests that some 50% of all depression cases are linked with genetics," Klitzman said. "The other 50% is environment. So if you're just looking at the genetic factors, you're missing everything else."

Smoking, for example, dramatically raises your risk of developing lung cancer and heart disease; eating right can help lower your chances of developing stomach cancer and of obesity.

I've sent my spit off for more genetics tests than I can count.

Each one I've tried so far has offered a different experience, a different approach to how they present the data, or what information they provide — whether it's my great-grand relative or how much Neanderthal DNA I have. 

Every so often someone asks me which test I would recommend.

Genetic testing companies have proprietary sets of data and different ways they analyze the data, which can also play a role in decision-making, but to me it all boils down to one question: What do you want to get out of the test? 

Let's take the two direct-to-consumer ones I've tried out: AncestryDNA and 23andMe. 

23andMe

23andMe currently offers two versions of its tests:

• The $199 version, which comes with both the health and ancestry components.
• The $99 version, which will just have the ancestry test.

Its health reports can tell you information about traits, (such as if you're likely to have dimples or curly hair), wellness (how well you metabolize caffeine and if you're a sprinter), as well reports on carrier status. These reports can tell you if you carry a mutation for certain conditions that you could pass down to your children. Currently, 23andMe has 41 of these tests, up from the 36 tests it had when it launched in October 2015. 

With 23andMe's ancestry reports, users have access to reports that break down the Ancestry Composition (which regions your genes most closely align with), haplogroups (a genetic population that shares a common ancestor), and a person's Neanderthal ancestry. They also get access to something called a DNA Relatives tool, which 23andMe users can opt into to connect them with other users. It also shows if they have close or distant relatives in the system. 23andMe is big on research and getting users to engage in its research. 

Verdict: If you're looking at this as more of a science experiment, or a way to get involved in research (most recently I got asked to participate in asthma research), and you aren't as interested in retracing your ancestry, this is the test for you. Or, if all you really want to know is your ancestry percentages and how much Neanderthal variants you have, the $99 version is also a good bet.  

AncestryDNA

Ancestry's test, as the name suggests, is all about family histories and geneaology. You won't find health and wellness reports in its $99 test. 

What you will find is information about where your family comes from, and how that connects you to other potential ancestors. Ancestry also helps you link up the DNA test to your self-reported family tree. 

There's a lot to discover within that ancestry data — for example, I was matched up with ancestors dating back to the 18th century, and could explore just how I connected with that ancestor. 

Ancestry's site is situated in such a way that if all you want are the percentage estimates, it's easy to focus on those, too.

But if you want to dig deep into your family tree, you can. I would definitely consider purchasing this test for a relative who enjoys researching our family tree.

Verdict: If the idea of tracing back your family tree for generations and connecting with distant relatives gets you incredibly excited — and less interested in getting health information back — this is the test for you. 

Other ancestry tests:

Although these are the only two I've tried out so far, there are, of course, other tests out there.

• National Geographic has an ancestry test called Geno 2.0 through Helix an Illumina spin-off that's kind of like the "app store for genetics." The test — which is currently $149.99 but originally $199.95 — is different from the others in that it's using next-generation sequencing, instead of the genotyping technology that AncestryDNA and 23andMe use. The test gives a report on ancestry and telling ancestral stories. 
• MyHeritage, for example just launched a DNA test that's currently going for $79 (originally $99). Its tests, like Ancestry's, are focused on building out family connections and trees. 
• Others, like FamilyTree DNA (which offers tests from $59) are geared toward those wanting to find genetic links to others and find family members.

Conclusion: All the genetics tests on the market today come in at around the same price point. And, as I found after taking both tests, the reports can slightly differ a bit, since each company has slightly different methods, algorithms, and data that they're using. So go with the test that will answer the questions you have. Have fun!

SEE ALSO: I shipped my spit to AncestryDNA to see how much I could learn from my genes — and found out my family history is more complex than I thought

DON'T MISS: I tried 23andMe's new genetics test — and now I know why the company caused such a stir

Join the conversation about this story »

NOW WATCH: Countries around the world are pouring billions of dollars into France's revolutionary nuclear fusion reactor

Almost every cell in a human body carries a copy of our genetic code, the DNA that holds the unique biological blueprint for who we are.

That DNA tells our cells what to do. When they divide, that information is copied from one cell to another.

But life is hard on our cells. They become damaged every moment of every day, exposed the radiation of the sun, the heat of our laptops, the chemicals we absorb from air pollution, the alcohol we drink, and more. Aging itself damages them.

This damage can easily become a harmful mutation, causing cells to replicate in an out of control way, leading to disease and cancer. With the constant assault, it's a wonder this doesn't happen all the time.

It's only thanks to a mechanism in our cells that can recognize when something has gone wrong that we aren't all riddled with cancer.

That mechanism, known as the DNA damage response, functions like an individual intelligent agent, able to monitor when things are going wrong and then try to come up with a way to deal with them.

Understanding that response is a key to dealing with diseases that affect us as we age. It could help us figure out why we lose of our vitality as we grow old and it could transform how we understand cancer, that "emperor of all maladies." Cell growth is the key to our lives, how we grow and how our bodies repair themselves; cancer is the potentially deadly perversion of that growth.

One of the remarkable properties of nature’s most remarkable molecule, DNA, is self-awareness: it can detect information about its own integrity and transmit that information back to itself.

Discoveries explaining how that mechanism works are so significant that on December 4, geneticist Stephen Elledge was awarded one of five $3 million Breakthrough Prizes in life sciences. These awards, founded by Sergey Brin and Anne Wojcicki, Mark Zuckerberg and Priscilla Chan, Yuri and Julia Milner, and Jack Ma and Cathy Zhang, honor research that could transform and perhaps more essentially, extend human life. Elledge, Gregor Mendel Professor of Genetics and Medicine in the Department of Genetics at Harvard Medical School and in the Division of Genetics at the Brigham and Women’s Hospital and Investigator with the Howard Hughes Medical Institute, has done significant work in this area.

Elledge's research on the DNA damage response certainly fits the bill. While we've thought that cells had some way to respond to damage ever since the 1940s, Elledge has helped reveal the biological components involved in the process.

"One of the remarkable properties of nature’s most remarkable molecule, DNA, is self-awareness: it can detect information about its own integrity and transmit that information back to itself," Elledge wrote in JAMA after he was awarded a prestigious Lasker award in 2015 for his work.

When this response detects damaged DNA, it can respond in several ways. It may try to repair the damage, but it may also activate the immune system, cause the cell to destroy itself, or trigger a process known as senescence — which helps prevent tumors but is also largely responsible for aging.

While this research was a large part of why Elledge was awarded a Breakthrough Prize, it's only part of his extensive biology research. As a Harvard press release notes, he and colleagues recently discovered a way to identify every virus a person had ever been exposed to.

Other life sciences Breakthrough Prizes this year were awarded to Harry Knoller for his work understanding how RNA is central to protein synthesis; Roeland Nusse for research on a pathway essential for cancer and stem cell biology; Yoshinori Ohsumi, who was also awarded a Nobel Prize this year, for work on cell autophagy; and Huda Yahya Zoghbi for discoveries related to rare disease that help show how neurodegenerative diseases work.

SEE ALSO: Hallucinogenic drugs could soon work 'like a surgical intervention' for mental illness

Join the conversation about this story »

NOW WATCH: A space engineer explains why humans will never go past Mars

Forensic science has become a mainstay of many a TV drama, and it’s just as important in real-life criminal trials. Drawing on biology, chemistry, genetics, medicine and psychology, forensic evidence helps answer questions in the legal system. Often, forensics provides the “smoking gun” that links a perpetrator to the crime and ultimately puts the bad guy in jail.

Shows like “CSI,” “Forensic Files” and “NCIS” cause viewers to be more accepting of forensic evidence. As it’s risen to ubiquitous celebrity status, forensic science has become shrouded in a cloak of infallibility and certainty in the public’s imagination. It seems to provide definitive answers. Forensics feels scientific and impartial as a courtroom weighs a defendant’s possible guilt – looking for proof beyond a reasonable doubt.

But the faith the public and the criminal justice system place in forensic science far outpaces the amount of trust it deserves.

For decades, there have been concerns about how the legal system uses forensic science. A groundbreaking 2009 report from the National Academy of Sciences finally drew the curtain back to reveal that the wizardry of forensics was more art than science. The report assessed forensic science’s methods and developed recommendations to increase validity and reliability among many of its disciplines.

These became the catalyst that finally forced the federal government to devote serious resources and dollars to an effort to more firmly ground forensic disciplines in science. After that, governmental agencies, forensic science committees and even the Department of Defense responded to the call. Research to this end now receives approximately US$13.4 million per year, but the money may not be enough to prevent bad science from finding its way into courtrooms.

This fall, the President’s Council of Advisors on Science and Technology (PCAST) released its own report on forensic science. It’s a more pronounced acknowledgment that the discipline has serious problems that require urgent attention. Some scientific and legal groups are outraged by or doubtful of its conclusions; others have praised them.

As someone who has taught forensic evidence for a decade and dedicated my legal career to working on cases involving forensic science (both good and bad), I read the report as a call to address foundational issues within forensic disciplines and add oversight to the way forensic science is ultimately employed by the end user: the criminal justice system.

Is any forensic science valid?

The President’s Council of Advisors on Science and Technology recognized ongoing efforts to improve forensic science in the wake of the 2009 NAS report. Those efforts focused on policy, best practices and research around forensic science, but, as with any huge undertaking, there were gaps. As PCAST noted, forensic science has a validity problem that is in desperate need of attention.

PCAST focused on what’s colloquially termed “pattern identification evidence” – it requires an examiner to visually compare a crime scene sample to a known sample. PCAST’s big question: Are DNA analysis, bite marks, latent fingerprints, firearms identification and footwear analysis supported by reproducible research, and thus, reliable evidence?

They were looking for two types of validity. According to PCAST, foundational validity means the forensic discipline is based on research and studies that are “repeatable, reproducible, and accurate,” and therefore reliable. The next step is applied validity, meaning the method is “reliably applied in practice.” In other words, for a forensic discipline to produce valid evidence for use in court, there must be (1) reproducible studies on its accuracy and (2) a method used by examiners that is reproducible and accurate.

Among the forensic science they assessed, PCAST found single-sourced DNA analysis to be the only discipline that was valid, both foundationally and as applied. They found DNA mixture evidence – when DNA from more than one person is in a sample, for instance from the victim and the perpetrator, multiple perpetrators or due to contamination – to be only foundationally valid. Same with fingerprint analysis.

Firearms identification had just the potential for foundational validity, but the research that could support it hasn’t been done yet. Footwear analysis lacked studies even showing potential for foundational validity. And bite mark analysis has a low chance of achieving any validity; the PCAST report advised “against devoting significant resources” to it.

All these types of evidence are widely used in thousands of trials each year. Many additional cases never even go to trial because this supposedly definitive evidence seems damning and compels defendants to plead guilty. But the lack of reliable science supporting these disciplines undermines the evidence which, in turn, undermines criminal convictions.

Risks of lacking validity

When forensic methods are not validated but nevertheless perceived as reliable, wrongful convictions happen.

For example, the field of forensic odontology presumes that everyone has a unique bite mark. But there’s no scientific basis for this assumption. A 2010 study of bite marks from known biters showed that skin deformations distort bite marks so severely that current methods of analysis could not accurately include or exclude a person based on the pattern left by their teeth.

In 1986, Bennie Starks was convicted of rape and other crimes after forensic odontology experts testified he was the source of a bite mark on the victim. In 2006, DNA test results showed Starks could not have been the perpetrator. Starks spent 20 years in prison for a crime he did not commit because of faulty evidence from an unreliable discipline. More recently, the Texas Forensic Science Commission recommended a flat-out ban on bite mark evidence.

Like in Starks’ case, questionable forensic evidence plays a significant role in at least half of overturned convictions, according to the Innocence Project. Once a verdict comes in, it becomes a Sisyphean task to undo it – even if newly discovered evidence undermines the original conviction. It’s next to impossible for people once convicted to get their cases reconsidered.

At the moment, only two states (Texas and California) permit a defendant to appeal a conviction if the scientific evidence or the expert who testified is later discredited. More laws like these are needed, but it’s politically a hard sell to grant more rights and avenues of appeal to convicts. So even if the science is undermined or completely discredited, a prisoner is often at the mercy of a court as it decides whether to grant or deny an appeal.

What should be admissible?

The PCAST report recommended judges consider both the foundational and applied validity of the forensic discipline that produced any evidence before admitting expert testimony. This includes ensuring experts testify to the limitations of the analysis and evidence. For example, the justice system traditionally considers fingerprint evidence as an “identification” – for instance, the thumbprint recovered from the crime scene was made by the defendant’s thumb. No one ever testifies that there are little scientific data establishing that fingerprints are unique to individuals. The same holds true for other types of pattern identification evidence such as firearms, toolmarks and tire treads.

The National District Attorneys Association (NDAA) was critical of the PCAST report. It countered that there actually is scientific data validating these forensic fields, but members of PCAST did not adequately consult subject-matter experts. The NDAA also worried that if courts required stronger scientific validity before allowing evidence into court, it would hamstring the entire investigative process.

The NDAA concluded that judges should continue to be the ones who decide what makes evidence reliable and thus admissible. It asserted that the stringent requirements to become expert witnesses, along with the ability to cross-examine them in court, are enough to guarantee reliable and admissible evidence.

But should the admissibility of scientific processes – which ought to be grounded in their proven ability to produce reliable evidence – be determined by people who lack scientific backgrounds? I would argue no.

Pattern identification evidence shouldn’t be excluded from cases wholesale, but forensic evidence needs to be placed into context. When the human eye is the primary instrument of analysis, the court, the attorneys and the jury should be fully aware that certainty is unattainable, human error is possible, and subjectivity is inherent.

Reliance upon the adversary system to prevent wrongful convictions and weed out junk science requires a leap of faith that ultimately undermines the integrity of the criminal justice system. Counting on cross-examination as an effective substitute for scientific rigor and research can’t be the answer (although it has been for more than a century).

The PCAST report is yet another wake-up call for the criminal justice system to correct the shortcomings of forensic science. We demand that guilt be proven beyond a reasonable doubt; we should also demand accurate and reliable forensics. Without improvement, we can’t trust forensic science to promote justice.

Jessica Gabel Cino, Associate Dean for Academic Affairs and Associate Professor of Law, Georgia State University

This article was originally published on The Conversation. Read the original article.

SEE ALSO: Meet the 'super-recognizers,' an elite squad of police officers who are paid to never forget a face

DON'T MISS: This vial of blood is the most controversial piece of evidence in the 'Making a Murderer' mystery — here’s how the test that was run on it works

Join the conversation about this story »

NOW WATCH: Why we have different blood types and why they matter

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

I am often confounded by the realities of 2016. We have apps that can get you food in minutes, Star Wars films that look more realistic than ever before, and access to the endless expanse of human knowledge that is the World Wide Web. But of all the signals that have forced me to acknowledge that, yes, we are living in the future, few have struck me as hard as 23andMe.

23andMe is a direct-to-consumer genome test service meant to provide its customers with an idea of what their genetic makeup says about them. Named for the 23 pairs of chromosomes in a human cell, 23andMe will take a small sample of your DNA and, from it, create over 60 reports regarding information about your health, your bodily traits, and your ancestry. The company was put on hold for two years after the FDA ordered 23andMe to stop marketing the health portion of their genetic analysis kits out of concerns that consumers might misinterpret results as a diagnosis and attempt to self treat. After making some adjustments, 23andMe came back last fall, this time with the full support of the FDA on all fronts.

When I was first assigned the task of covering 23andMe, I was hesitant. Also, I didn’t have many questions about my family history, and any information regarding my potential future health that could be extracted by an analysis of my DNA is information I’d prefer remain unknown. I expressed these concerns to a friend of mine, who immediately said he’d love the chance to get his DNA mapped, so after talking to my editor, it was established that JR would be taking part in the experience.

You can order your own 23andMe kit for $199 here.

DON'T MISS: 26 gifts your dad actually wants this holiday season

SEE ALSO: We tested this company's workout gear, and it solves a very common problem for runners

Meet JR

JR has been a friend since middle school. He was interested in 23andMe mostly because he knew very little about his ancestry. “I used to ask my mom about my family; she would just say that we were rednecks,” he said, when I asked him what he knew about his family. “I’ve always hear that I was part Native American, but I don’t have any evidence.”

There are other reasons that people would want to take part in 23andMe; if you are planning on starting a family, there are carrier status reports that could give insight to potential inherited conditions that you could pass on to your children. In JR’s case, though, he was most interested in figuring out something about his heritage, and so we began.

Mailing your kit

The kit is simple enough. It comes in an attractive, brightly colored box that is quite inviting. Inside is a tube for you to spit into and prepaid packaging for its return. First, you must register your kit online to ensure your results get back to you. After that, you’ll spit up to the line in the provided vial (it took JR approximately 4.5 spits), seal it, put it in the return envelope, and drop it in the mail. It’s a super simple process.

About six weeks after mailing in your sample, you’ll get an email letting you know that your results are ready. JR alerted me when he received his email, and we went through his results together. Here were his most important finds while examining his genome map.

You can order your own 23andMe kit for $199 here.

Results 1: Traits

One aspect of 23andMe's genetic mapping is a break down of certain traits you might have: hair color, sneezing in response to sunlight, and preference in taste. With regard to JR, 23andMe got a lot of things right about his looks — light, straight hair and blue eyes — all based on a little vial of his spit. It was impressive. But one trait caught JR's eye more than the others.

“I was really interested to find out I am more likely to consume more caffeine than the average person. It makes a lot of sense.”

JR works as a barista and is a committed coffee drinker. 23andMe knows a lot.

I have to admit: I've become a genetics geek. Ever since I sent my first saliva sample to be analyzed by consumer-genetics company 23andMe, I've become obsessed with what I can find out from a sample of my DNA.

After trying out 23andMe's $199 test, I wanted to see how one of its competitors' tests stacked up.

For $99, AncestryDNA will sequence your genes to help trace your geographic roots. It doesn't provide health and wellness information, although Ancestry launched a program aimed at tracking family-health history called AncestryHealth. The company also recently teamed up with Alphabet's biotechnology company, Calico, to study the genetics of the human lifespan. 

Here's what it was like to use AncestryDNA:

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

SEE ALSO: The 7 best science-backed fitness apps

Shortly after I ordered it online, my AncestryDNA kit arrived in the mail in a small box the size of a hardcover book.

Learn more here.

Opening it up, I found a collection tube (and a bag to seal it in once I was done), a set of instructions, and a smaller box to send it all back in.

No stranger to collection tubes, I wasn't quite looking forward to spitting up to the top of the line on this tube. As I learned previously, generating enough spit for the collection process (which helps ensure the company has enough DNA to run it a second time in case of errors) can be hard work.

Scientists have figured out the specific gene mutation responsible for red hair — and why it's more common in beards than on heads.

Follow BI Video: On Twitter

Join the conversation about this story »

SEE ALSO: An experimental treatment to help Parkinson's patients respond to medication better appears to be working

DON'T MISS: The UK just became the first country to legally offer 'three-parent' gene therapy

Join the conversation about this story »

NOW WATCH: Here's what happens to your body when you stop eating sugar

A cancer startup that wants to build a blood test to screen for cancer is seeking to raise at least $1 billion.

Grail was created in January 2016 by gene-sequencing giant Illumina, funded by a group of Silicon Valley investors including Jeff Bezos, Bill Gates, and Google Ventures, raising $100 million at the time.

Now, it's looking for at least $1 billion for its Series B round. The company said in a release that it's "received indications of interest to invest." The news comes ahead of a major healthcare investor conference in San Francisco, so it's possible the company is looking to gauge investor interest heading into the conference. 

"This raise, when completed, will provide Grail the resources to develop its first products and embark on the large-scale trials required to demonstrate the stringent performance requirements of a cancer screening test," Grail chairman Jay Flatley said in a statement Thursday.

The idea behind a cancer-screening test is to identify the tiny bits of cancer DNA that are hanging out in our blood but currently undetectable. If Grail is successful, it'll be the first to pull off a cancer-detecting blood test that works proactively. The concept is similar to liquid biopsy tests, which use blood samples to sequences genetic information in that blood to figure out how tumors are responding to a certain cancer therapy.

With one simple blood draw, Grail's plan is to sequence and screen for those bits with the hope that it will help catch cancer before it starts to be a full-blown problem.

But getting a test that will be accurate will take a lot of time and require huge clinical trials. Fast Company reported one trial that will take place in the United Kingdom with as many as 500,000 people. Another trial, called the Circulating Cell-free Genome Atlas study, launched in December 2016. 

SEE ALSO: We got a glimpse at how the cancer test that Jeff Bezos and Bill Gates just invested in will work

DON'T MISS: I shipped my spit to AncestryDNA to see how much I could learn from my genes — and found out my family history is more complex than I thought

Join the conversation about this story »

NOW WATCH: An exercise scientist reveals exactly how long you need to work out to get in great shape

In a dream Brian Hanley told me about, he’s riding a bus when he meets a man in dark leather clothing. Next thing he knows, he is splayed across a tilted metal bed, being electrocuted.

The dream was no doubt connected to events that took place last June at a plastic surgeon’s office in Davis, California. At Hanley’s request, a doctor had injected into his thighs copies of a gene that Hanley, a PhD microbiologist, had designed and ordered from a research supply company. Then, plunging two pointed electrodes into his leg, the doctor had passed a strong current into his body, causing his muscle cells to open and absorb the new DNA.

The effort is the second case MIT Technology Review has documented of unregulated gene therapy, a risky undertaking that is being embraced by a few daring individuals seeking to develop anti-aging treatments. The gene Hanley added to his muscle cells would make his body produce more of a potent hormone—potentially increasing his strength, stamina, and life span.

Hanley, 60, is the founder of a one-man company called Butterfly Sciences, also in Davis. After encountering little interest from investors for his ideas about using DNA injections to help strengthen AIDS patients, he determined that he should be the first to try it. “I wanted to prove it, I wanted to do it for myself, and I wanted to make progress,” says Hanley.

Most gene therapy involves high-tech, multimillion-dollar experiments carried out by large teams at top medical centers, with an eye to correcting rare illnesses like hemophilia. But Hanley showed that gene therapy can be also carried out on the cheap in the same setting as liposuction or a nose job, and might one day be easily accessed by anyone.

In an attempt to live longer, some enthusiasts of anti-aging medicine already inject growth hormone, swallow fullerenes, or gulp megavitamins, sometimes with disregard for mainstream medical thinking. Now unregulated gene therapy could be the next frontier. “I think it’s damn crazy,” says Bruce Smith, a professor at Auburn University who develops genetic treatments for dogs. “But that is human nature, and it’s colliding with technology.”

To pull off his experiment, Hanley used his scientific knowledge and part of his life savings. He put his insider know-how to work to procure supplies, order blood tests, win the sign-off of a local ethics committee, and engage a plastic surgeon who helped give him two treatments, a small dose in 2015 and then a larger one last June.

Hanley, who drives a battered sedan humming with Hindu rave music, fits the profile of an underappreciated genius on a self-improvement quest. He’s a prolific online commenter whose opinions touch on everything from radiation to electric cars and street pickup of leaf piles. But his scientific thinking seems generally sound, and he says the meaning of his dream is straightforward too: he’d become Dr. Frankenstein’s monster. “My unconscious is really not that subtle,” says Hanley. “I had become something else, not entirely me.”

Hanley’s undertaking has caught the attention of big-league scientists. His blood is now being studied by researchers at Harvard University at the laboratory of George Church, the renowned genomics expert. Church, who provided MIT Technology Review with an introduction to Hanley, says he knows of a handful of other cases of do-it-yourself gene therapy as well. “And there are probably a lot more,” he says, although no one is quite sure, since regulators have not signed off on the experiments. “This is a completely free-form exercise.”

In 2015, we wrote about the case of Liz Parrish, an entrepreneur without a background in biology who claimed to have received a dose of gene therapy in Latin America. Parrish briefly worked for Hanley, whom she knew from anti-aging meetings. At least one additional person who underwent self-administered gene therapy is a U.S. biotech executive who did not want his experience publicly known because he is dealing with the U.S. Food and Drug Administration on other matters.

Hanley says he did not secure the approval of the FDA before carrying out his experiment either. The agency requires companies to seek an authorization called an investigational new drug application, or IND, before administering any novel drug or gene therapy to people. “They said ‘You need an IND’ and I said, ‘No, I don’t,’” recalls Hanley, who traded e-mails with officials at the federal agency. He argued that self-experiments should be exempt, in part because they don’t pose any risk to the public.

That’s not to say gene therapy is without dangers, such as immune reactions. “I spent years doing very little else other than iterating designs and thinking of all the ways something could go wrong,” he says. When I met him on Stanford University’s campus to discuss his project, Hanley zipped open his cargo pants to show me three black dots tattooed on his left thigh, marking the site of one of the injections. Had the gene therapy gone haywire, he says, his fail-safe option was to have the affected tissue surgically removed.

Informed consent

During a day I spent with Hanley in Menlo Park, he seemed to burst with energy, several times colliding with me as we tried to walk through doors. Was it the gene therapy at work, an excitable personality, or just a show? “I think getting near Spider-Man-like transformations of people is potentially possible,” he says of gene therapy.

Most often, this approach relies on viruses to shuttle DNA into a person’s cells. Hanley opted instead for a simpler method called electroporation. In this procedure, circular rings of DNA, called plasmids, are passed into cells using an electrical current. Once inside, they don’t become a permanent part of person’s chromosomes. Instead, they float inside the nucleus. And if a gene is coded into the plasmid, it will start to manufacture proteins. The effect of plasmids is temporary, lasting weeks to a few months.

Because of its relative simplicity, the same technique is now eyed as a novel way to quickly deliver vaccines in response to emerging diseases. In August, the U.S. National Institutes of Health began dosing volunteers with a plasmid containing parts of the Zika virus.

Hanley took the technique in a different direction, poring over decade-old studies by a company called VGX Animal Health that had tried zapping plasmids into the muscles of cows, dogs with kidney disease, and baby piglets. They’d explored adding extra copies of the gene for growth-hormone-releasing hormone (GHRH)—a molecule that is normally made in the brain. One of its roles is to travel to the pituitary gland, where it acts as a regulator of growth hormone itself, telling the body to make more. It also appears to have an array of other roles, including enhancing the immune system.

“We never did try it in humans, but from everything that I saw in dogs, cats, cattle, pigs, and horses, it seems like a reasonable leap forward,” says Douglas Kern, a veterinarian who worked at VGX. “It has very profound positive effects in most species.”

Hanley says he designed a plasmid containing the human GHRH gene on his computer, with the idea of developing it as a treatment for AIDS patients. But no investors wanted to back the plan. He concluded that the way forward was to nominate himself as lab rat. Soon he located a scientific supply company that manufactured the DNA rings for him at a cost of about $10,000. He showed me two vials of the stuff he’d brought along in a thermos, each containing a few drops of water thickened by a half-milligram of DNA.

In planning his study, Hanley skipped some steps that most companies developing a drug would consider essential. In addition to proceeding without FDA approval, he never tested his plasmid in any animals. He did win clearance for the study from the Institute of Regenerative and Cellular Medicine in Santa Monica, California, a private “institutional review board,” or IRB, that furnishes ethics oversight of human experiments.

However, in the application by his company to increase “GHRH levels “to more youthful levels” in a single subject, Hanley did not indicate that he planned to be the subject himself. He says that’s not a problem, because he knows the risks so well after working on the idea for so long. “I am informed consent personified,” he says. “There is no one in the world more informed than me.”

But ethicists not involved in the study see a significant omission. “If I found out only after I approved a protocol that it was intended to be self-experimentation, I’d be seriously unhappy,” says Hank Greely, a law professor at Stanford University. “That is definitely the kind of thing an IRB should know about.” He says the issue is one of potentially impaired objectivity, as when a physician proposes to treat family members—except even more so, since Hanley is the designer of the therapy as well as its recipient, and may be financially dependent on the outcome.

“One thing you have when you’re experimenting with yourself is a very, very deep conflict of interest,” says Greely.

The video

When I asked Hanley for proof the treatment had actually occurred, he obliged by providing documentation and playing for me a video of the experiment he had stored on his laptop. In it, Hanley appears sitting in his undershorts in a doctor’s office. The scene, recorded in June, shows the surgeon from the elbows down, wearing shorts, running shoes, and white exam gloves. The two met at a gym working out, Hanley says. Off screen, a female friend of Hanley’s makes small talk as large ice packs are laid on his thighs.

“How are you feeling?” the doctor asks.

“A little nervous,” Hanley replies.

Also watching the experiment that day, via Skype, was Bobby Dhadwar, a postdoc in Church’s Harvard laboratory, which Hanley has kept abreast of his plans. “When I first heard someone is going to electroporate themselves, I thought they had to be kidding. It’s usually something we do to animals,” says Dhadwar. 

The procedure, involving an electrical discharge into the body, is painful. Hanley tried it first in the summer of 2015, with no anesthetic. In a diary he keeps to track his results, he compared the feeling to torture. “Pow!” he noted. “No way is that acceptable. Have to work on that protocol.”

This time, Hanley had opted to take six milligrams of the tranquilizer Xanax and got local anesthetic in his thighs. The doctor can be seen placing a plexiglass jig built by Hanley onto the biologist’s thigh. The doctor leans in with a hypodermic needle to inject the sticky solution of GHRH plasmids into the designated spot. He also uses the jig to guide the two electrodes, stiff sharp needles the size of fork tines, into the flesh. The electrodes—one positive, one negative—create a circuit, a little like jump-starting your car.

In the video, Hanley’s thigh shudders as the current is turned on, his cells open momentarily, and the DNA rings slip inside.

“That was better than last time,” he’s heard saying.

The results

Three weeks after the treatment in June, Hanley’s diary records that he flew to Boston. By the morning of June 28 he had arrived at Church’s Harvard lab, where he spent two weeks at a vacant desk. The geneticist, who enjoys millions in NIH grants, has a large program testing 45 different gene-therapy interventions in mice to see which extend their lives the most, or even reverse aging.

Church has said he thinks the gene therapy is “underrated” as a way to conquer old age and believes in a not-so-far-off scenario where “everyone takes gene therapy” not in order to cure hemophilia, sickle-cell anemia, or some other rare disease, but to reverse the results of getting old.

That makes Hanley a person of considerable interest to the lab—he’s a sort of visitor from the near future. “We think it’s very interesting to hear about people who are self-medicating with gene therapy,” says Dhadwar. “It’s so easy to acquire these materials; it’s just one step to say ‘I am going to start treating myself.’”

Dhadwar told me the lab had received blood samples from both Hanley and Parrish and was carrying out measurements to determine whether new genes were active in their bodies. He said in Hanley’s case levels of GHRH appeared elevated, suggesting that the treatment had had an effect, although he cautioned that his results are not definitive. 

With “indie” gene therapists checking in and out of his Harvard lab, I asked Church if it was becoming a sanctuary for people flouting medical convention, if not the law. One real risk is that gene therapy could become a zone of reckless and unproven treatments. “We certainly don’t encourage people to do this; in fact, we encourage them not to,” Church says. But he doesn’t see why he should give up the chance to offer scientific feedback or assistance: “I don’t think of it as offering a haven so much as a critique.”

Invictus

In many conversations and e-mails with Hanley, I frequently wondered what his deepest motive was, and whether he even knew it himself. Was it to “develop products people will love,” as he told me, as if he were the Steve Jobs of plasmids? When I described the experiment to Greely, the legal ethicist, he said it reminded him of the treacly 19th-century poem “Invictus,” by William Ernest Henley. It’s the one that ends, “I am the master of my fate: I am the captain of my soul.”

Maybe doing gene therapy on himself was Hanley’s way to take control of his business, his health, and his identity. Altering your DNA, in a very literal way, alters who you are. It also let him play in a big scientific pond alongside people doing “real science,” like those in the Church lab. “To be in that game, you need to be hooked into NIH or Google’s billions,” says Hanley. “Someone like me, I look for things that are proven and that I am convinced of, and then how do we implement it?”

So what happens next? The U.S. Food and Drug Administration could get involved, intervening with warning letters or site visits or auditing his ethics board. The plastic surgeon—whose name Hanley wished to keep confidential—could face questions from California’s medical board. Companies that supply plasmids might start taking a closer look at who is ordering DNA and what they plan to do with it. Or perhaps authorities will simply look the other way because Hanley experimented on himself. 

The kind of attention Hanley is hoping for, he says, is from investors. Maybe someone will fund a larger study, or perhaps there is a wealthy person interested in paying for his treatment.

Hanley is proud of what he’s done. He created a company, secured patents, made new contacts, identified a gene therapy that has plausible benefits for people, thought in detail about the risks, and offered himself up as a pioneering volunteer. Doing gene therapy to yourself, Hanley says, “focuses the mind, it really does.”

SEE ALSO: What we know about people who have the brain of a 'superager'

Join the conversation about this story »

NOW WATCH: A Harvard psychologist reveals the best way to fake it till you make it