- A DNA test can give you some insight into your health.
- Genetic testing is an important health-care tool that can tell people a lot about their bodies.
- These tests analyze a sample of a person’s DNA and look for specific changes associated with different conditions.
- Often, test results can help doctors diagnose and predict a person’s risk for developing a disease.
- Other DNA tests can tell people about whether they’re predisposed to certain traits.
- INSIDER spoke with Dr. William G. Feero, M.D., Ph.D., an associate professor of Community and Family Medicine at the Geisel School of Medicine at Dartmouth, to get a better understanding of how different genetic DNA tests work, and what they can teach people about their health.
- Visit INSIDER’s homepage for more stories.
Getting a DNA test can give you a window into your health.
Today, there are numerous genetic tests available to people at the clinical and consumer level. In general, they involve a mouth swab, hair sample, or a blood test to allow doctors, scientists, and individuals to look closely at a person’s DNA for variations (mutations) that are linked to particular traits or conditions.
But it’s important to note that clinical and consumer tests are not created equal. In fact, many home DNA tests aren’t regulated to the degree that medical DNA tests are.
INSIDER spoke with Dr. William G. Feero, MD, PhD, associate professor of Community and Family Medicine at the Geisel School of Medicine at Dartmouth, to learn how medical DNA tests work and the different ways they can be useful for understanding our health. Regardless of your motivations for seeking DNA testing, you should always consult a physician about interpreting your results.
Diagnostic tests can confirm whether you have a hereditary disease like Huntington’s disease, sickle cell anemia, Marfan syndrome, and cystic fibrosis
Most of the time, doctors use genetic testing as a tool to help confirm a genetic disease diagnosis in patients who are experiencing specific symptoms, said Feero.
During a medical DNA test, a licensed practitioner such as a nurse or doctor collects a small sample of hair, skin, saliva, or blood from a patient. Pregnant people may also give a sample of amniotic fluid (aka the liquid around an unborn child.)
According to the National Institutes of Health, genetic tests (at the clinical level) can be used to identify 2,000 hereditary diseases and conditions. Some examples of common hereditary diseases that these tests might find include cystic fibrosis, familial hyperlipidemia, and muscular dystrophy.
“Diagnostic genetic tests look for specific changes in the DNA, in specific genes that are relatively well-proven to cause those genes not to work properly, and for the person to develop disease,” Feero said. “They are highly reliable and very accurate.”
- DNA tests can help determine if you have a hereditary disease.
- William Thomas Cain/GettyImages
One of the benefits of these types of genetic tests is that they allow doctors to detect hereditary diseases at every stage of life. In some cases, if doctors are able to identify the disease before symptoms progress to a severe level, they can help patients plan for managing the condition.
This is especially useful for conditions like familial hyperlipidemia, which can result in premature heart attacks and stroke. Catching these types of diseases during their early stages (as in, before a first heart attack) means a patient will possibly have more options for treating the disease.
This type of testing is usually only done in a health-care setting.
Presymptomatic genetic tests may tell you whether you’re going to eventually develop a (hereditary) disease you don’t actually have yet
When a healthy person with no symptoms has a documented family history of a disease, such as diabetes, genetic tests can analyze specific markers in their genes that are related to that disease, said Feero. Doctors may then use this information to predict whether that person is at risk of developing the condition.
“One clear cut example is Huntington’s disease. It is a single-gene disorder that causes dementia, and it usually starts when someone is in their 50s or 60s,” he told INSIDER. “If you have the mutation associated with that disease, you are 100% going to get it. (In the case of Huntington’s disease, that mutation is an expansion of the region of DNA in a particular gene.)”
But when it comes to diseases that involve multiple mutations, occurring in one or a few genes, determining a person’s risk is a little more complex, said Feero. Some conditions aren’t just caused by changes in a single gene, but rather, a whole range of changes across, potentially, multiple genes. Feero said genetic testing can be useful by allowing doctors to analyze the different types of gene changes. This can give them an idea of whether someone will get a disease, how bad it will be, and perhaps insights on potential treatments.
A carrier test can tell you if your DNA contains a mutation for a genetic disorder that might affect your unborn child
- Genetic testing can help with family planning.
- Syda Productions/Shutterstock
Sometimes people who are totally healthy can have mutations in their DNA that are associated with different genetic disorders, explained Feero. This is called being a carrier, and it basically means their DNA inherited a single copy of the gene mutation for that hereditary condition or disease. Generally, the condition doesn’t actually affect that person or their health, because their DNA still has an additional copy of that same gene that doesn’t have the mutation.
For example, if you’re a carrier for a disease mutation linked to cystic fibrosis, it doesn’t mean you have cystic fibrosis. But there’s a 50% chance that you will pass along a copy of that same mutation to your future children, and cause them to also be a carrier for that condition. However, when two future parents turn out to be carriers for the same genetic disorder, their child may develop the disease, explained Feero.
He told INSIDER, “If a woman is a carrier of a mutation for cystic fibrosis, and her partner is also a carrier of a mutation in one of his cystic fibrosis genes, their baby has a one in four chance of inheriting two bad copies of those genes. [As a result,] there’s an increased chance that baby will be born with cystic fibrosis.”
Expanded carrier status screening is a type of genetic DNA test that can estimate reproductive risks in healthy individuals, said Feero.
He told INSIDER, “Expanded carrier status screening can be useful if you are a woman who is contemplating pregnancy, and you want to know what genetic changes you might have in your DNA that could predict risk for multiple relatively rare, serious diseases in your newborn. For example, [certain] changes in your DNA might be associated with cystic fibrosis or Tay-Sachs risk for the baby.”
Today, many fertility clinics and other health-care facilities offer tests that can tell you if you are a carrier for different genetic disorders. There are also several direct-to-consumer DNA tests that provide these types of results, too.
According to the National Human Genome Research Institute, hereditary conditions that might be detected in a carrier test include Huntington’s disease, sickle cell anemia, spinal muscular atrophy, polycystic kidney disease, Tay-Sachs disease, and Down syndrome.
Knowing this information allows parents to make well-informed choices about family planning.
A predictive genetic test may give you an idea of your risk for developing some hereditary cancers, but they aren’t 100% certain
According to the National Cancer Institute, some genetic tests can provide people with information about whether they inherited mutations associated with several types of hereditary cancer. This includes certain types of breast cancer, colon cancer, melanoma, and sarcoma. One well-known cancer-related mutation that a DNA might check for is the BRCA 1/BRCA 2 gene mutation.
“If you have one of those classic BRCA genes mutations, your risk of developing breast cancer is very high,” said Feero.
For some people, receiving genetic test results that come back positive for a mutation like this can be life-changing. Feero noted this can make that person eligible for additional tests like ovarian cancer and breast cancer screenings, starting at an early age. It may also influence them to talk with their family members about potentially getting tested for mutation as well.
And depending on the other risk factors a person has (like their weight, diet, and other health conditions), it may lead them to take further action to help prevent the disease before it begins. In this case, if someone has the BRCA 1 or BRCA 2 gene mutation, along with other risk factors, they may decide to get a mastectomy (breast removal) to minimize their chances of cancer occurring.
However, it’s important to remember that not all cancers are caused by hereditary mutations. In fact, many of the mutations that cause cancers are sporadic, which means they happen randomly and unexpectedly due to environmental factors. This means a genetic test can’t always say for certain whether someone will get cancer, said Feero.
Conversely, if someone does have the BRCA 1 or BRCA 2 gene mutation, it doesn’t mean they’re 100% guaranteed to get breast cancer, either (though their risk is MUCH higher than the general population).
Still, if you have a family history of cancer and you’re concerned about your risk, you should talk with your doctor about this type of testing.
Depending on the type of DNA test you get, you may also be able to learn about whether you have some increased risk for developing conditions that are caused by multiple factors, like diabetes
Using genetics to predict whether someone will develop a disease is a very complex process. Tests that are done in a clinical setting like a doctor’s office may look for different things than a DNA test you can buy at home. A direct-to-consumer test usually involves a swab that is then mailed into a lab.
“Direct-to-consumer DNA tests use what is called SNP-based [pronounced ‘snip’], or single-based nucleotide polymorphism testing. They look for changes in DNA that are associated potentially with mutations that actually cause disease, that often aren’t the mutations themselves,” Feero told INSIDER.
Most of the time, these tests can tell you if your DNA shows variations that make you predisposed to developing a disease or condition. But this type of result is a lot different than saying you’re definitely going to get a disease.
This is especially the case when it comes to diseases where your genes and lifestyle choices play a role in whether you get it. Results from a SNP test are just one piece of the puzzle, while other factors like your diet, fitness level, blood pressure, and environment also contribute to whether you’ll get that disease.
Currently, the FDA says that some DNA tests are approved to share information regarding a person’s genetic health risk for developing 10 medical conditions, including Parkinson’s disease, celiac disease, Late-onset Alzheimer’s (a progressive brain disorder that affects memory), along with several blood-clotting and tissue disorders.
Still, Feero noted much the mainstream medical community remains uncertain about how accurate and useful these polygenic risk scores are in predicting whether someone will get a disease.
“These risk scores for conditions like type 2 diabetes are really probabilistic,” said Feero. “They predict some increased risk, but are definitely not deterministic, which means they don’t tell you for certain that you will develop type 2 diabetes. Often the increased risk predicted only accounts for a small amount of the total risk a person has for developing a disease.”
He added that it’s important to consider these genetic risk scores only account for one portion of your risk.
“People should be careful about evaluating their reasons for seeking DNA testing,” said Feero. “They should try to understand from a knowledgeable healthcare provider what the test can and can’t tell them about the particular health conditions they may be interested in testing for.”
Some home DNA tests may be capable of telling you whether you’re likely to have certain traits like lactose intolerance or a higher body weight
Many consumer DNA tests now provide people with information that isn’t related to whether or not they have a serious genetic disorder.
SNP testing can detect variations in a person’s genome that are associated with different traits that aren’t necessarily diseases as well as medical conditions, said Feero. As is the case for diseases in which multiple genetic variants play a role, the associations for traits are made based on research that has linked genetic variations in certain populations to these traits. By comparing your DNA to the DNA of others with these traits, these tests can infer traits you might have.
For example, some test results might tell a person if they’re predisposed to lactose intolerance or moving around when they sleep.
It’s important to note these trait tests, as well as SNP-based tests for disease risk, do have limitations
Feero pointed out that one issue with these consumer tests is that they only test for a limited number of relatively common genetic variants. This can be problematic if you’re someone from an underrepresented population because your results might not be as accurate as those for someone from a population group that has been extensively studied for associations between variants and traits and diseases.
And even if you are from a population that has been well studied and is highly represented in available research databases, it’s important to remember these SNP-based test results are not considered a medical diagnosis.
But that doesn’t mean they can’t be beneficial to you. Learning that you may be predisposed to a certain trait might influence you to make positive lifestyle changes that can improve your health overall. For instance, if you learn that you’re more likely to have a higher weight than the average person, you might feel inspired to work out more often at the gym or start a new fitness plan. In addition, some results may encourage you to have important conversations with your doctor about your diet or fitness plan.
But as far validity goes, perhaps it’s best to take these types of results with a grain of salt.
- Samantha Lee/Business insider
- As Silicon Valley tech companies increasingly push into the realm of healthcare, outside experts and clinicians are raising red flags.
- In the cases of suicide prevention, genetic testing, and e-cigarettes, lives may hang in the balance.
- In the tech universe, much of the motivation for a new technology is wrapped up in its potential to disrupt existing markets.
- In healthcare, clinicians have to think about what could happen to someone after they use the tool they are given. The risk of harm is high.
- Visit Business Insider’s homepage for more stories.
When the Harvard psychiatrist and tech consultant John Torous learned that Facebook monitors its users’ posts for warning signs that they might be at risk of suicide, he was shocked.
Having grown accustomed to working with tech giants like Microsoft on scientific research, he wondered why he’d never heard about Facebook’s program. He was even more surprised to find out that as part of its efforts, Facebook was sending emergency responders to people’s homes.
Facebook’s monitoring tool has been running since 2017 and was involved in sending emergency responders to people more than 3,500 times as of last fall, the company said. But the reason Torous hadn’t heard of it is because the company hasn’t shared information about the tool with researchers such as him, or with the broader medical and scientific community.
Without that information, Torous said, big questions about Facebook’s suicide-monitoring tool are impossible to answer. Torous is worried the tool might home in on the wrong users, discourage frank discussions about mental health on the platform, or escalate, or even create, a mental-health crisis where there wasn’t one. In sum, Torous said Facebook’s use of the tool could be harming more people than it’s helping.
“We as the public are partaking in this grand experiment, but we don’t know if it’s useful or not,” Torous told Business Insider.
Facebook says the tool isn’t a health product or research initiative but more akin to calling for help if you see someone in trouble in a public space.
It is the latest example of a trend in Silicon Valley, where the barriers that separate tech from healthcare are crumbling. A growing array of products and services – think Apple Watch, Amazon’s Alexa, and even the latest meditation app – straddle the gap between health innovation and tech disruption. Clinicians see red flags. Tech leaders see revolution.
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Silicon Valley’s critics like to point to Theranos as a dramatic example of what can go wrong as a result of the breakdown. Bolstered by big investors, the secretive blood-testing startup reached a valuation of $9 billion, despite publishing little research showing its tech worked. When it was gradually revealed that the advanced technology required for its devices did not exist, the company and its founder, Elizabeth Holmes, toppled.
Clinicians and researchers interviewed for this article said that tech products and services could often be overhyped or even harmful, even if they couldn’t reach Theranos-level deception. They said the health claims that companies make frequently run ahead of the evidence – a problem when people’s health is on the line.
“There’s almost this implicit assumption that they play by a different set of rules,” Torous said.
Take Juul, which is now the top seller of e-cigarettes in the US. When the San Francisco company launched its high-nicotine vaping devices, it styled them as compatible with a healthy lifestyle. When Juul was then tied to a teen-vaping epidemic, experts called attention to Juul’s lack of published health research and its youthful launch campaign. Had Juul been required to rigorously study its e-cigarettes before flooding the market with them, the company might have avoided putting youth at risk, experts say.
Founded in 2006, 23andMe is one of the oldest Silicon Valley healthcare startups. The company has long portrayed its genetic tests as helping people take better control of their health by providing a snapshot of their risk of diseases like late-onset Alzheimer’s and cancer. In 2013, however, regulators forced the company to stop selling the tests on the grounds that they hadn’t proven their results to be accurate with published research.
Now, with limited regulatory sign-off and dozens of published studies, 23andMe is selling its health tests once again. Yet clinicians still call the reports subpar. These experts say the reports can mislead. They point out that although regulators have approved of them as medical tools, the bar for that threshold was significantly lowered recently. 23andMe, on the other hand, says its reports are empowering and touts regulators’ blessing.
‘The walls are breaking down fast’
- Some experts find 23andMe’s health reports concerning.
- Hollis Johnson/Business Insider
In the view of Laura Hercher, the director of research in human genetics at Sarah Lawrence College, tech companies and clinicians approach health problems from fundamentally different perspectives. Where tech tends to prioritize disruption and convenience, healthcare puts an emphasis on safety.
But the invisible barriers that once separated tech from health are deteriorating, she said. In the meantime, patients and consumers may suffer the consequences, other experts say.
“The walls are breaking down fast,” Hercher told Business Insider. “There’s going to be a lot to figure out as we go along.”
At Facebook, a health problem came to the company. Staff had known there was an issue since 2009, when a cluster of suicides occurred at two high schools near the company’s headquarters in Palo Alto. Then, things became personal. After the company rolled out a livestreaming tool called “Facebook Live” several people used it to livestream their suicides. First it was a 14-year-old girl and then a 33-year-old man, both in the US. Later, in the fall, a young man in Turkey broadcast himself taking his own life.
Facebook tasked its safety-and-security team with doing something about it.
The team spoke with experts at several suicide-prevention nonprofits, including Daniel Reidenberg, the founder of Save.org. Reidenberg told Business Insider that he helped Facebook create a solution by sharing his experiences, bringing in people who’d struggled personally with suicide, and having them share what helped them.
The result was Facebook’s suicide-monitoring algorithm, or, as the company calls it, its suicide-prevention algorithm. Using pattern-recognition technology, the tool identifies posts and livestreams that appear to express intents of suicide. It scans the text in a post, along with the comments on it, such as “Are you OK?” When a post is ranked as potentially suicidal, it is sent first to a content moderator and then to a trained staff member tasked with notifying emergency responders.
Clinicians and companies disagree on the definition of health research
Antigone Davis, Facebook’s global head of safety, told Business Insider that she likens the tool to crisis response and does not consider it health research. She said Facebook doesn’t store data on individuals related to what the algorithm detects about their suicide risk.
“The AI is working on the content, not on the individual,” Davis said.
It is unclear how well the tool works. Because of privacy issues, emergency responders can’t tell Facebook what happened at the scene of a potential suicide, Davis said. In other words, emergency responders can’t tell Facebook if they reached the scene too late to stop a death, showed up to the wrong place, or arrived only to learn there was no real problem.
Torous, a psychiatrist who’s familiar with the thorny issues in predicting suicide, is skeptical. He points to a review of 17 studies in which researchers analyzed 64 different suicide-prediction models and concluded that the models had almost no ability to successfully predict a suicide attempt.
“It’s one thing for an academic or a company to say this will or won’t work. But you’re not seeing any on-the-ground peer-reviewed evidence,” Torous said. “It’s concerning. It kind of has that Theranos feel.”
Reidenberg told Business Insider that he believes Facebook is doing good work in suicide, but because its efforts are in uncharted waters, he thinks everyday issues will arise with the tool. He disagrees with Torous’ view that the efforts are health research. “There isn’t any company that’s more forward-thinking in this area,” Reidenberg said.
Something that’s easier or prettier may not be good enough in healthcare
- When Pax Labs launched the Juul e-cigarette in 2015, the company had published no health research on the device.
- Melia Robinson/Business Insider
Juul has long presented itself as a health-tech company and is eager to show that its devices can improve the health of adult smokers. When it launched its e-cigarettes in 2015 with a party in New York City, Juul’s then-parent company, the tech startup Pax Labs, called the Juul “smoking evolved.”
Before the launch party, though – and for several years afterwards – neither Pax nor Juul published any real health research. Then, reports of a vaping epidemic among teens began to surface.
Meanwhile, clinicians and academics looked at Juul’s devices and saw a big problem: They had a handful of qualities that made them uniquely appealing to young people.
Even compared with other e-cigarettes, Juul devices contain very high levels of addictive nicotine, which may help adult smokers but which also appear to interfere with learning and memory in the still-developing teen brain, according to Suchitra Krishnan-Sarin, a professor of psychiatry at Yale’s center for nicotine and tobacco research. Juuls are also easier to hide and to use discretely, another quality that could be helpful for adults but especially harmful for teens, Krishan-Sarin said.
Other experts point to Juul’s 2015 ads – which depicted young models on flashy backgrounds – and Juul’s sweet flavors, such as crème brûlée and cool cucumber. They say both appealed uniquely to youth. Had the startup studied its devices before selling them, those problems may have been foreseeable, they say.
“The problem is Juul products just came onto the market without any regulation and without any controlled studies,” Krishnan-Sarin told Business Insider.
In a statement emailed to Business Insider, a Juul spokesperson said the company “exists to help adult smokers switch from combustible cigarettes, which remain the leading cause of preventable death around the world,” and added that Juul is now publishing research. The representative also said the company is committed to preventing youth access to its products and supports raising the national tobacco and vapor purchasing age to 21.
“We invite those who criticize us for launching in 2015 to talk to former smokers about the impact switching to Juul has had on their lives,” the spokesperson said.
Who are 23andMe’s genetic tests for?
Then there’s 23andMe, which rolled out the health and disease component of its genetic tests in 2013, before publishing research that showed the tests to be accurate, according to regulators at the US Food and Drug Administration. Today, the agency has approved of 23andMe’s products as medical tools, thanks in part to a less-stringent process introduced last year. In addition, the company has now published dozens of basic research papers. But clinicians say those things don’t mean the tests are safe.
Jeffrey Pollard, 23andMe’s director of medical affairs, told Business Insider that its tests are designed for healthy people who want to learn more about their genes and are not intended to meet the level of care designed for the clinic. He said the company is clear in how it communicates that to customers. Pollard also said 23andMe regularly engages with experts outside the company to ensure their products are up-to-date.
“I think it’s obvious that genetics and the tests we provide are quite impactful, and in that way, we deserve to be paid attention to and embraced,” he said.
But to Hercher, 23andMe’s reports are concerning for several reasons. One is that the tests don’t include counseling, a service that she and other experts see as critical to ensuring that people understand their results and their real risk of disease. Another is that they are not comprehensive because they only look at a select few genes involved in one’s risk of disease.
“Producing something that kind of works and is faster, cheaper, or easier isn’t always an adequate answer if it turns out to put some people at risk,” she said.
‘Move fast and break things’ versus ‘first, do no harm’
- Facebook CEO Mark Zuckerberg answered questions about privacy at a Senate committee last year.
- Chip Somodevilla/Getty Images
A decade ago, Facebook cofounder and CEO Mark Zuckerberg told Business Insider founder Henry Blodget that his prime directive to his team was to “move fast and break things.”
“Unless you are breaking stuff,” he said, “you are not moving fast enough.”
It has become the unofficial motto of Silicon Valley.
But experts including Torous say that mantra is at odds with medicine’s Hippocratic oath, in which doctors swear to “first, do no harm.”
In the cases of suicide prevention, genetic testing, and e-cigarettes, lives may hang in the balance. In the tech universe, much of the motivation for a new technology is wrapped up in its potential to disrupt existing markets. But in healthcare, clinicians have to think about what could happen to someone after they use the tool they are given.
Healthcare is an industry that requires particular caution because patients are often in a vulnerable position. They might be sick or facing an elevated risk of disease or death. The chance of causing harm is high.
Hercher and Torous said that academics and clinicians play by rules different from Silicon Valley’s.
“It’s not that we’re dealing with different fact sets – we have different obligations,” Hercher said. “We live in different universes.”
Academics are worried about vulnerable populations
- Hollis Johnson/Business Insider
Torous is worried that Facebook’s suicide-monitoring tool doesn’t work very well, especially based on what he’s seen published about other similar algorithms. He’s also concerned that it could cause problems by either identifying the wrong people, which would add stress to an already strained healthcare system and waste money, or by discouraging Facebook users from speaking frankly about their mental state with their peers.
“We know Facebook built it and they’re using it, but we don’t really know if it’s accurate, if it’s flagging the right or wrong people, or if it’s flagging things too early or too late,” Torous said.
Krishnan-Sarin and University of Southern California preventive-medicine professor Jessica Barrington-Trimis are concerned that even if Juul helps adult smokes, the products could hurt thousands of young people who wouldn’t have otherwise smoked by making them more likely to pick up a cigarette.
“We want smokers to quit. If you can provide them with a cleaner form of nicotine, that’s great. But many kids say they go through a whole pod in 24 hours. That’s very concerning. Nicotine is a neurotoxin to the adolescent brain,” Krishnan-Sarin said.
In a similar vein, Hercher and Ross are worried that people at a high risk of disease who take a 23andMe test could be harmed. Both of them said the tests are set up in a way that customers could believe that they’ve been screened for a serious disease such as cancer, for example, when in reality, they have not.
One case of this occurred in 2010 when an oncologist named Pamela Munster took a 23andMe breast cancer test and was relieved to learn she was negative, as the New York Times reported.
Two years later, Munster learned she had breast cancer. A more thorough clinical test revealed that indeed, she had a genetic mutation that had raised her risk of the disease. It was a mutation that 23andMe didn’t test for.
“It’s like you bring your car in for service and they say, ‘OK, we checked your rear right brake and it’s working,’” Hercher said. “If you think you’ve just had your car serviced, you’ve not been well informed.”
A developing playbook for health-tech startups: Publish more research
To John Ioannidis, an early Theranos skeptic and a professor of medicine at Stanford University, the time is ripe for another Theranos-like debacle in health tech. In January, he and a team of researchers published a study that suggests that of all the well-funded health-tech startups out there, very few are publishing scientific literature.
The answer to avoiding that problem is simple, he and his coauthors suggest: The startups need to start publishing results. “Startups are key purveyors of innovation: holding them to a minimum standard of evaluation is essential,” they wrote.
Peer-review research involves subjecting your work to a group of outside experts in the same field. Whether it’s a biotech company claiming its new therapy can cure cancer or a tech company that is trying to prevent suicide, those assertions can and should be measured and quantified, Ioannidis and his coauthors say.
Juul appears to have heeded Ioannidis’ call.
Starting this year, the company began to publish health research and told Business Insider last month that it was beefing up its research efforts with a team focused on doing more of that kind of work. Business Insider also exclusively reported that Juul is also exploring a digital-health offering that could complement its devices with an app or other smartphone-based tool designed to help smokers quit.
In addition, Juul has made over its image and done away with ads that outside experts said appealed to teens. Advertisements that featured young models on bright backgrounds have been swapped for images of adults with pops of gray in their hair. A neon online color scheme has shifted to muted hues of navy and gray. Flavors such as cool cucumber and crème brûlée have been shortened to cucumber and crème.
- Hollis Johnson/Business Insider
“We are committed to continuing to research the potential public health impact of our products and have over 100,000 participants enrolled in behavioral studies across the world,” the Juul spokesperson said.
In addition to publishing research, experts say startups need to place a clearer emphasis on safety and transparency. To do that, companies like 23andMe, Juul, and Facebook all need to think more about how their tools might impact potentially vulnerable people.
“There have to be quality controls, there has to be truthfulness,” Hercher said. “Is simply having good information enough? There has to be a line somewhere.”
Facebook maintains that its work in suicide does not fall under the domain of health, but instead is restricted to emergency response. It has not published any data on the algorithm.
As far as the world of genetic-testing is concerned, experts say it’s still something of a Wild West for customers, but a handful of companies are trying to address that. They hope to combine the convenience and simplicity of 23andMe with the thorough nature of a clinical experience.
Invitae, one startup, recently announced plans to roll out a test that, like 23andMe’s, could be ordered by consumers, only it would incorporate genetic counseling and require a doctor’s sign-off. Last month, another startup called Helix launched a comparable test that includes optional genetic counseling. And Color Genomics has long had a test that works similarly and links customers to genetic counselors over the phone.
“There’s some great science out there,” Ross said. “I want to see more of it.”
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- Hollis Johnson/Business Insider
By nature, Black Friday is a day that’s very much about materialism. Consumers flood stores and online sites in search of deals on tech, men’s fashion, women’s fashion, mattresses, and more. But if you’d prefer to spend your money on experiences or learning opportunities, a DNA kit might be the perfect way to do so.
If you’ve ever been interested in understanding more about your ancestry or family history, right now is the best time to get a DNA kit as many of the best ones are discounted for Black Friday. (Might we add, they also make great holiday gifts for friends and family!)
Brands like 23andMe, AncestryDNA, and Vitagene all make easy-to-use at-home kits that can provide results in a matter of weeks. In addition to your family history, certain kits can assess your health, provide useful insight to improve your fitness, or track down historical relatives.
While many tests unveil similar data, there are key differences between each one. Check them out below and compare deal prices.
Looking for more deals? We’ve rounded up the best Black Friday and Cyber Monday deals on the internet.
$49 (Originally $99) [You save $50]
With over 1 billion family connections, AncestryDNA is the best-selling DNA test you can buy. The service helps you discover the people and places that made you who you are by tapping into 350 regions across the world – two times more than the next leading competitor.
The current price is the lowest it’s ever been (and possibly ever will be).
$99.99 (Originally $199), available on Amazon [You save $99.01]
Save up to $70 on DNA kits at 23andme.com.
The 23andMe kit is one of the most in-depth at-home DNA tests you can take. Not only will it break down your ancestry, but it will also discover your genetic health risks for diseases like Parkinson’s or Alzheimer’s, carrier traits for diseases like Cystic Fibrosis and Sickle Cell, report on your wellness with details like sleep patterns and lactose intolerance, and other genetic traits. If you’re only interested in learning your ancestry you can buy the genetics kit for half off.
National Geographic Geno 2.0
$55.99 (Originally $99.99), available on Amazon [You save $44]
The National Geographic Geno 2.0 Next Generation provides a breakdown of your regional ancestry by percentage, going back as 500,000 years. Once your DNA sample is submitted and processed, you can access the data via the Geno 2.0 smartphone app, where an easy-to-understand video walks you through your ancestry. You’ll learn about which historical relatives you could be related to.
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MyHeritage DNA is one of the easiest DNA tests to complete. Unlike other tests that require several vials of saliva, this test can be completed in two minutes with a simple cheek swab. With a huge database of DNA Matches, the test pulls data from 42 regions. Once your results are in, you’ll learn about your ancestry and potential family members you’ve never met.
Family Tree DNA
- Family Tree DNA
$49.99 (Originally $79), available on Amazon [You save $29.01]
Family Tree DNA offers an in-depth genetic analysis of your genetic makeup by regions as well as your lineage over time. It is also is one of the best tests for finding and connecting with distant relatives. The Family Matching System pairs other users with similar genetic make-up, so if you’re looking for a long lost sibling, there’s a decent chance you’ll find them here.
$99.99 (Originally $259.99), available on Amazon [You save $160]
If you’re interested in learning about your DNA to better improve your health, the Helix DNAFit kit is the way to go. In addition to your ancestry, this test provides fitness and nutritional insight, so that your workouts and diet best fit your genetic makeup. It will also unveil injury predispositions. Originally priced at $300, you won’t find a better deal on any other day of the year.
$57.95 (Originally $99) [You save $41.05]
Vitagene is another great test for learning about your ancestry as well as your health. The easy two-minute saliva test is processed in four to six weeks (which is a lot quicker than most other tests), and you’ll get a full breakdown of your ethnic mix and global ancestry. The health insight comes as a diet plan, fitness plan, and personalized vitamin plan tailored to your DNA.
- Yulia Mayorova/Shutterstock
- Genealogy and DNA site Ancestry once partnered with Google’s stealthy life-extension spinoff, a company called Calico, to study the genetics of longevity.
- The new study suggests that our genes play less of a role in how long we live than previously believed.
- Instead, traits and behaviors that include everything from diet and exercise to friendliness appear to play a strong role in longevity.
- But surprisingly, we still pass these traits on through generations – mostly by picking partners who look and act like us, the researchers suggest.
The road to achieving a long life is littered with hype. The usual life-extension suspects include pricey pills and supplements; the peculiar involve infusions of young blood and chambers pumped with sub-zero temperatures.
Then there’s science. And one scientific factor that has long been presumed to dictate much of how long we live is our DNA. For decades, it was assumed that the genes we inherit from our parents explain anywhere from 15% to 30% of the variations in longevity that are observed between people.
But a new study that came from quiet collaboration between genetics company Ancestry and a Google life-extension spinoff called Calico suggests that our genes play less of a role in our lifespan than we thought.
Instead, traits and behaviors that include everything from diet and exercise to friendliness appears to play a strong role in longevity. Surprisingly, we still pass these traits on through generations – mostly by picking partners who look and act like us, the researchers report.
In essence, the findings suggest that people effectively transfer longevity from one generation to the next much in the same way that wealth and socioeconomic status are passed from parents to children: by choosing partners with attitudes and attributes that mirror our own, regardless of how different their DNA may be.
Picking partners who act and think like us
- seyfettin dincturk / Unsplash
For decades, researchers studying longevity and genetics had estimated that the genes we inherit from our parents play a significant role in determining how long we live. Previous studies suggested that genes account for as much as 30% of the total variability in lifespan between individuals.
But the new study from Ancestry and Calico indicates that our DNA may be much less important in determining longevity than traits and behaviors like diet, exercise, and personality. After looking at data from more than 54 million family trees and the birth and death information for over 400 million individuals, the researchers concluded that our DNA accounts for less than 10% of lifespan variability.
Instead, we pass on longevity through generations by choosing partners whose attitudes and attributes look much like our own. In research parlance, that’s known as “assortative mating.”
“The true heritability of human longevity for birth cohorts across the 1800s and early 1900s was well below 10%, and … has been generally overestimated due to the effect of assortative mating,” the scientists wrote.
Put another way, we tend to pick partners with attitudes and attributes – from eating and exercising to friendliness – that mirror our own. And as a result, we tend to live similar amounts of time, and have children who do as well.
How friendly we are and how often we work out may play a stronger role in our longevity than our DNA
Previous studies shed light on how important lifestyle factors are when it comes to how long we live. In a recent study published in the journal Circulation, for example, scientists pinpointed five lifestyle factors that appear to be linked with a significantly longer lifespan, judging by the outcomes of two long-term studies that involved about 123,000 adults.
People in the study who lived long lives tended to:
- Do at least 30 minutes of cardio exercise every day.
- Eat a Mediterranean diet.
- Never smoke.
- Stick to a healthy body weight.
- Drink no more than 1-2 alcoholic beverages a day.
As part of several other recent studies, scientists have uncovered a handful of personality traits that also appear to be strongly linked to longer-than-average lives. They include:
Taken together, the findings suggest that how long we live may be less a matter of what we’re born with than the circumstances in which we live and the choices that we make. Those choices, as the Ancestry and Google researchers acknowledge in their new paper, tend to be based on everything from social status to wealth and then, just like genetics, passed on from one generation to the next.
- Flickr/Jane Rahman
- Several companies make DNA tests that claim to tell you how well you’ll respond to certain antidepressants based on your genetic profile.
- Two personalized medicine companies – Assurex and Genomind – offer some of the most popular tests and work with physicians and pharmacists to provide them to patients.
- A chain of Albertsons pharmacies in Chicago, Philadelphia, and Boise is running a pilot program in which pharmacists can offer the Genomind test.
- Silicon Valley genetics testing startup Color Genomics recently began offering a similar test as part of its services.
- The costs of the tests range from $250 to $750, but some scientists say it’s not worth the money.
Around the time that 26-year-old Courtney Luk got in line at the pharmacy to pick up her 25th depression medication, she decided she’d had enough.
Over the previous two years, Luk had been prescribed everything from Klonopin to Xanax to treat the anxiety and depression she’d experienced since adolescence. Nothing seemed to do the trick. One medication would make her feel numb; others seemed to make her symptoms worse.
Then a psychiatrist suggested she try a genetic test that could provide guidance about which drug Luk should try next. They swabbed the inside of Luk’s cheek for a spit sample and sent it off to get tested.
Using DNA testing to determine how well a given depression medication will work with a patient’s genetic makeup is becoming a popular approach. More than 750,000 people have taken one such test, called GeneSight, which is made by personalized medicine company Assurex, according to its website. A network of 28 Albertsons pharmacies offers a similar test made by a company called Genomind as part of a pilot program. And just last month, Silicon Valley genetics testing startup Color Genomics began offering a test as part of its $250 kits.
But some scientists say the tests have limited utility.
That’s because they doesn’t tell providers which specific medication is best to prescribe patients, according to Alan Schatzberg, a Stanford University psychiatrist and the director of the Stanford Mood Disorders Center. And Cristina Cusin, a Harvard psychiatrist, said the test won’t give helpful results to patients who take more than one medication.
Plus, the tests may give conflicting results to the same patient for the same medication, according to a peer-reviewed analysis of four different gene tests published this summer.
A pricey test with a lofty goal
- Getty Images/William Thomas Cain
Since adolescence, Luk had experienced debilitating anxiety that sometimes turned into panic attacks, along with mood swings and depression that sometimes led her to contemplate taking her own life. Despite trying more than two dozen different medications, Luk and her psychiatrists had yet to come up with a combination of drugs that significantly lifted her mood without contributing to her anxiety.
Luk had heard of genetics tests for antidepressants before, but previously declined to take one since she couldn’t afford the $750 price tag.
But when a psychiatrist suggested a test she could get for free through insurance, a kit from Genomind called the Genecept Assay, Luk said yes. The test appealed to her as a potential way to eliminate the trial-and-error process of starting a new drug and waiting – sometimes up to six weeks, the standard for most antidepressants – to see if it worked.
“I don’t feel like my medications right now are working optimally, and I was hoping to learn if there’s a cocktail of medications that would do that,” Luk said.
Her psychiatrist told her the test might show them what to do next. Perhaps they’d learn that one medication wasn’t right for her body and could be replaced with a different drug. But when the results came in, they were murkier than Luk anticipated.
Her report listed all the antidepressants she’d taken along with several she’d yet to try. Each got a colored check mark: red checks suggested Luk would likely have negative reactions to a drug, green checks suggested no negative reactions, and orange checks indicated something in between.
Next to a popular antidepressant called Celexa, for example, Luk’s test showed an orange check mark and said, “increased risk for adverse events or poor response.” That meant that because of the way her body processed the drug, Luk was more likely than the average person to experience negative side effects or see no positive results.
Sure enough, Luk recalled that when she’d taken Celexa several years earlier, she had experienced painful bruising across her arms and legs.
But another drug Luk had recently begun taking, called Topamax, carried a green check and said “use as directed – no known gene-drug interactions.” Despite taking that medication for several weeks, however, Luk said she hadn’t experienced any change in her symptoms.
So she went back to trial and error.
Daniel Dowd, Genomind’s vice president of medical affairs, acknowledged that some patients may read too much into the test.
“I think patients do tend to think, ‘OK, this is going say exactly what this specific drug is going to do for me,’ and that’s not what this test is,” Dowd told Business Insider. “Like any other branch of medicine, [the test] provides an estimation of risk.”
Genomind funded a 2018 study of its test that analyzed patient spending in the six-month period following use of the test. The authors – one of whom sits on Genomind’s scientific advisory board – compared roughly 800 people with mood and anxiety disorders who took the test with nearly 3,000 people who didn’t take it. They found that people who took the test spent nearly $2,000 less on healthcare on average, mostly because they visited ERs and hospitals less frequently in the months following the test than people who didn’t take it.
The researchers wrote that it could represent “a promising strategy to reduce costs” in people with depression and anxiety.
To Dowd, the finding was a big endorsement of the test.
“If we can get this test embedded in the healthcare record, that could mean a big cost savings,” he said.
Who the test may – and may not – help
Once you swallow a pill, various genes control how your body will break it down. One gene in particular, called CYP2D6, is one of the most closely studied. Some people have faulty or abnormal copies of that gene, meaning they don’t process drugs like antidepressants as they should. That increases the chances that someone could have an adverse reaction like bruising or not respond to a medication at all.
The gene tests are designed to assess whether a patient is likely to have a negative outcome on any common antidepressants. In theory, that would help patients and their providers narrow down the list of potential medications to try.
“In these cases, I think there is clear evidence” for using a gene test, Michelle Whirl-Carrillo, a senior research scientist at the Stanford University School of Medicine, told the author of an article published by the Journal of the American Medical Association (JAMA).
But Schatzberg, the Stanford psychiatrist, said a narrower list is not what his patients need.
“What’s really needed is a test that says, ‘You have this profile, these are the two drugs you need to use.’ That’s what’s missing,” he said.
Instead, the tests merely tell him if someone’s body doesn’t process a drug properly – a conclusion they’d reach anyway after trial and error.
“I don’t necessarily need to know up front if a person is a poor drug metabolizer. I need to know which specific drug to use where I will get the positive effect with less side effect burden,” Schatzberg said. “These tests don’t do that.”
Cusin, the Harvard psychiatrist, specializes in treating people with severe depression. She agreed with Schatzberg.
“I don’t think psychiatrists get much information about the costs and benefits or much predictive value for this type of test,” she said.
Cusin added that she doesn’t think the test helps in cases where people are taking multiple medications or when patients have a history of failing to respond to medications. Plus, she said, a recent study made her hesitant to use the tests in her own practice.
That study found major inconsistencies among four different gene tests (including Genomind’s). In roughly one out of five cases, the authors said, different tests gave conflicting advice to the same patient.
“The level of disagreement in medication recommendations … indicates that these tests cannot be assumed to be equivalent or interchangeable,” the researchers wrote.
‘I jumped on it because I was tired of trial and error’
Unlike Luk, Allyson Byers, a 27-year-old in Los Angeles, said taking a genetic test saved her time in the quest to find the right medication.
Byers took Assurex’s GeneSight test after trying several drugs for her depression.
“I jumped on it because I was tired of trial and error,” she told Business Insider.
Byers said she paid $60 for the test after talking with her therapist and an Assurex representative (though she initially received a bill for several hundred dollars).
Her results weren’t perfect. Byers had been taking the antidepressant Zoloft for nine months, but she experienced several negative side effects, including weight gain. On the Assurex test, however, Zoloft was green-lit.
“When the results came back, I was questioning myself and thinking, ‘Did I make that all up? Did I really gain weight?’”
But the test also suggested another medication called Pristiq that Byers had not previously taken, she said. So Byers’ therapist suggested they try that instead of Zoloft. Several weeks later, Byers said she felt better – and thanked the test for helping her find a different medication.
“I’ve had to go up in dose a couple times, but I feel like I’ve finally found the right dose,” she said. For her, the test was “just another tool to help narrow things down.”
Coming to a pharmacy near you?
Increasingly, some patients are learning about genetics tests for antidepressants from their pharmacist instead of a psychiatrist.
In Chicago, Boise, and Philadelphia, 28 Albertsons drug stores are offering the Genomind test, according to Kimberly Hecht, a patient care services coordinator with Albertsons who leads the project.
She told Business Insider that mental health became a focus at the pharmacies she oversees when they began offering medications for drug addiction. Plus, because Albertsons’ pharmacies are open longer and on more days of the week than others nearby, they sometimes function as a default mental health provider, Hecht said.
“It just made sense with what we were offering and also because of our position in the community,” Jennifer Rapley, a marketing manager with Albertsons who works closely with Hecht, told Business Insider.
The project is currently in a pilot phase, but Genomind hopes to eventually offer its gene test in all 1,760 Albertsons-owned pharmacies throughout the country, JAMA reported this month.
But some components of the Albertsons program – such as how pharmacists determine whether a patient is a good candidate for the test and how it evaluates whether the results are effective – remain hazy.
For example, a patient does not have to have a history of using antidepressants to be offered the test, Hecht said.
“Typically it’s going to be patients who’ve tried a couple different things and it’s not working, but we kind of leave it up to our pharmacists’ professional judgment,” she said.
That makes Schatzberg wary.
“I think it presents real problems,” he said. “It’s practicing a level of medicine and offering a test where it’s not clear whether and how it should be used. It’s hard for me to believe that’s a good idea.”
The future of genetic testing for depression
Last month, Silicon Valley genetics testing startup Color Genomics began offering a test for antidepressants as a component of its DNA tests, which screen for gene variations linked to cancer and heart disease. Color’s service includes a professional genetics counselor as well as a clinical pharmacist who walk a patient through their results.
Othman Laraki, the company’s founder and CEO, told Business Insider that he sees the new test in a similar light to Color’s cancer test, which the company began offering in 2013.
“Like we saw with cancer, it’s definitely a moving target, it’s definitely still early, and there’s still a lot of uncertainty,” Laraki said. “But there’s enough support and enough scientific validity where it makes us feel comfortable enough to offer it.”
Hecht, the Albertsons coordinator, agreed.
“These types of tests really are the future and have the potential to really help people,” she said.
But for some patients, that future may not have arrived yet.
“After 25 different drugs, I may just be one of those people whose bodies doesn’t respond to medication,” Luk said. “In the end, it’s still trial and error, but it’s a little bit more of a targeted trial and error – a little bit more of an educated guess.”