TIME medicine

Here’s How 23andMe Hopes to Make Drugs From Your Spit Samples

The company is making a bold move to enter the drug-making business by using the genetic information donated by its clients

On March 12, 23andMe, the genetic testing company best known for analyzing your DNA from a sample of spit, announced the creation of a new therapeutics group. The group’s mission: to find and develop drugs from the world’s largest database of human genetic material.

That’s a huge shift for the company, which must now build a research and development arm from scratch. Richard Scheller, formerly of the biotechnology corporation Genentech, will lead the group and will also be 23andMe’s chief science officer.

Scheller admits that for now, he’s the therapeutics group’s only member. But soon after he starts on April 1, he anticipates that things will move quickly, as they do in the genetics world. That’s what attracted him to 23andMe after overseeing early drug development at Genentech for 14 years. “I’ve seen over the last couple of years how human genetics has impacted the way Genentech does drug discovery, and I thought it might be fun and interesting to work in an unrestricted way with the world’s largest human genetic database,” he says. “The questions we will ask are research based, but we could identify a drug target extremely quickly. I believe there is the real possibility to do really, really great things for people with unmet medical needs.”

MORE: Genetic Testing Company 23andMe Finds New Revenue With Big Pharma

More than 850,000 people have paid 23andMe to sequence their DNA since the company launched in 2006 until 2013, when the Food and Drug Administration requested that the company stop selling its medical genetic information services over concerns that their marketing claims weren’t supported by strong enough evidence about how the genetic information influenced human health. The company still retains that genetic information and continues to sell kits, but provides only non-medical information now while it continues to work with the FDA on further regulatory issues.

That experience “transformed” the company, as CEO Anne Wojcicki said to TIME earlier this year. Since then, the company has expanded its collaborations with pharmaceutical companies to access its database. The latest addition of drug development is a further evolution in the company’s identity.

Of those who have sent in samples, 80% have agreed to allow their genetic information to be used for research purposes. That’s the database that Scheller is eager to investigate. While at Genentech, he helped broker a collaboration between the biotech firm and 23andMe in which Genentech would have access just to the genetic testing company’s Parkinson’s disease patients, to search for any genetic clues to new therapies. Now, he says, “I plan on asking hundreds or maybe thousands of times more questions of the database than any pharmaceutical partner.”

MORE: 23andMe Finds Genes for Motion Sickness

He will be looking, for example, at whether patients who develop a certain disease tend to have specific hallmark genetic changes in their DNA, which could serve as potential launching points for new drugs. Or he might focus on the extreme outliers: people who have advanced cancer, for example, but somehow survive, or those who seem to succumb early. Mining their genomes might yield valuable information about what makes diseases more or less aggressive, and might become targets for drugs as well.

To do this, Scheller will have to create a drug development team from the ground up. The company is not divulging how much it intends to invest in this effort, but is soliciting another round of financing in the coming months. Initially, Scheller anticipates that even before the company has labs set up, he and his team will take advantage of labs-for-hire, or contract research organizations, to start doing experiments within weeks. Because his drug candidates will be more targeted and designed to address specific mutations or processes in the body, he anticipates that the cost of developing drugs that patients might eventually benefit from may be “substantially reduced” from the average $1 to $2 billion most pharmaceutical companies now spend.

MORE: Time Out: Behind the FDA’s Decision to Halt Direct to Consumer Genetic Testing

As for which disorders or medical issues he will tackle first, Scheller is being democratic. “We are going to be opportunistic,” he says. “That’s the nice thing about being part of 23andMe. We don’t really have a say. We can look generally at the database, and try and let it teach us what we should be working on.” In other words, anything is game.

MONEY Credit

Your Genes Might Affect Your Credit Score

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Jon Boyes—Getty Images

Your credit score isn't controlled by any one cause, but your genes may be a key factor.

There is the standard list of factors that influence your credit score: payment history, outstanding balances, the types of credit that you use and so on. But what you probably don’t realize is that your genes may also play an important role. Yes, your biological wiring might make you more likely to be more risk-seeking and take on more debt, which could lead to a lower FICO score.

I came across this intriguing discovery while researching my book Coined: The Rich Life of Money And How Its History Has Shaped Us. I wrote the book because I was working at a Wall Street investment bank during the credit crisis, and I wanted to know what leads people to make bad decisions with money. I learned that there are many things that guide our financial decisions, including our genes.

To understand how genes could sway our decisions, I asked a neuroeconomist. Neuroeconomics is an emerging and interdisciplinary field in which brain scans and other technologies are used to understand how we make financial decisions. Brian Knutson, a neuroeconomist at Stanford University, explained a study that he conducted with two colleagues, Camelia Kuhnen and Gregory Samanez-Larkin, on the link between our genes, financial decisions and even life outcomes.

They started with the multi-part question, “Do genes influence cognitive abilities, do they shape the way people learn in financial markets, or do they determine risk attitudes?” They concentrated on a gene known as 5-HTTLPR because it had been identified in previous studies as playing a role in how we make financial decisions. Specifically, they wanted to know whether there was causation between people who have a variant of this gene, possessing a short or long allele, and their financial outcome.

In the trial, they selected 60 individuals from San Francisco to participate. The participants shared demographic information such as their age, marital status and ethnicity. They also provided personal financial information such as their occupation, income level and debts. Some participants also disclosed their FICO scores. All participants had their DNA collected via cheek swabs for an analysis of whether they possessed the short or long alleles. Participants were then presented a series of financial decisions like how to allocate $10,000 across stocks, bonds and cash.

It turned out that those with short alleles made more conservative financial decisions than those with long alleles. Participants with short alleles allocated less money in equities and more in low-performing assets like cash. Moreover, in real life these participants had fewer lines of credit than the others. Those with two short alleles had higher FICO scores, some 93 points, than those with a long allele. FICO scores typically range between 300 and 850, so a swing of 93 points, or 17%, is statistically noteworthy.

Before concluding that genes were the reason for the variance in behavior, the researchers considered other possible factors: income, wealth and financial literacy. But they didn’t find that any of these things were meaningful in explaining the outcome of their study. Ultimately, they settled, “Overall, these results indicate that individual variation in the 5-HTTLPR genotype influences financial choice.”

Their conclusion is in line with other academic studies that find there are genetic determinants for financial decisions. For example, researchers compared the investment portfolios of fraternal and identical twins. They found that almost one third of the divergence in asset allocation might be attributable to genetic factors. Indeed, twins that were frequently in touch invested in a similar manner. But identical twins who grew up separately also demonstrated similar financial decisions. The researchers explain, “We attribute the genetic component of asset allocation—the relative amount invested in equities and the portfolio volatility—to genetic variation in risk preferences.”

However, Knutson and his colleagues sound a cautionary note: not all participants acted in accordance with how their genes might predict. Just because several studies reveal that genes appear to play a role in determining the financial decisions, doesn’t mean that they are the only things that matter. Even if someone is biologically wired to be risk-averse, they might demonstrate risk-seeking behavior depending on the situation. For example, say someone in her late 20s who is predisposed to risk aversion is setting up a retirement account. She has also taken two online courses that recommend more aggressive investing early in one’s career, so she decides to be more risk-seeking, and invests more money in stocks than bonds. In this case, knowledge triumphed over genetics.

That genes can influence our credit scores is an intriguing finding of neuroeconomics. Maybe one day, credit reports won’t just outline our borrowing and repayment history but how it deviates from expected behavior based on our genes.

More from Credit.com

This article originally appeared on Credit.com.

TIME sexuality

No Ben Carson, Homosexuality Is Not a Choice

Pointing the wrong way: Carson is just plain wrong on the science
Richard Ellis; Getty Images Pointing the wrong way: Carson is just plain wrong on the science

Jeffrey Kluger is Editor at Large for TIME.

A presidential hopeful (and a doctor) gets the science all wrong—and makes things worse when he tries to explain himself

If you’re a candidate dreaming of the White House with virtually no chance of actually winding up there, it sometimes helps to say something ridiculous—if only to get your name-recognition numbers up. That is the very best and most charitable explanation for comments by Dr. Ben Carson, a neurosurgeon, on CNN, arguing that homosexuality is “absolutely” a choice. His evidence? Prison.

“A lot of people who go into prison go into prison straight and when they come out, they’re gay,” he said. “So did something happen while they were in there?”

Prison, of course, is the worst of all possible examples Carson could have chosen—conflating sexuality with circumstance. Men confined together for years without women remain sexual beings and may take whatever outlet is available to them. Something similar was true in a less enlightened era of gay men and women who were forced to marry people of the opposite sex, and who dutifully produced children and tried to satisfy their partners despite the fact that they were getting little satisfaction themselves.

Carson, who was blowtorched in both social and mainstream media for his remarks, quickly walked them back, issuing a statement that, in some ways, only made things worse. “I’m a doctor trained in multiple fields of medicine, who was blessed to work at perhaps the finest institution of medical knowledge in the world,” he wrote. “Some of our brightest minds have looked at this debate, and up until this point there have been no definitive studies that people are born into a specific sexuality.”

That statement could indeed have the virtue of being true—provided it was issued in 1990. But since then, there’s been a steady accumulation of evidence that sexuality—like eye color, nose size, blood type and more—is baked in long before birth. The first great breakthrough was the 1991 study by neuroscientist Simon LeVay finding that a region in the hypothalamus related to sexuality known as INAH3 is smaller in gay men and women than it is in straight men. The following year, investigators at UCLA found that another brain region associated with sexuality, the midsagittal plane of the anterior commissure, is 18% larger in gay men than in straight women and 34% larger than in straight men.

One cause of the differences could be genetic. In 1993, one small study suggested a connection between sexual orientation and a section on the X chromosome called Xq28, which could predispose men toward homosexuality. The small size of the study—only 38 pairs of gay brothers—made it less than entirely reliable. But a study released just last year expanded the sample group to 409 pairs of brothers and reached similar conclusions.

Genes are not the only biological roots for homosexuality. Womb environment is thought to play a significant role too, since part of what determines development of a fetus is the level and mix of hormones to which it is exposed during gestation. In 2006, psychologist Anthony Bogaert of Brock University in Canada looked into the never-explained phenomenon of birth order appearing to shape sexuality, with gay males tending to have more older brothers than straight males. Working with a sample group of 944 homosexual and heterosexual males, Bogaert found that indeed, a first born male has about a 3% chance of being gay, a number that goes up 1% at a time for each subsequent boy until it doubles to 6% for a fourth son.

The explanation likely involves the mother’s immune system. Any baby, male or female, is initially treated as an invader by the mother’s body, but multiple mechanisms engage to prevent her system from rejecting the fetus. Male babies, with their male proteins, are perceived as slightly more alien than females, so the mother’s body produces more gender-specific antibodies against them. Over multiple pregnancies with male babies, the womb becomes more “feminized,” and that can shape sexuality.

A range of other physical differences among gay men and lesbians also argue against Carson’s thinking—finger length for instance. In heterosexual men, the index finger is significantly shorter than the ring finger. In straight women, the index and ring fingers are close to the same length. Lesbian finger length is often more similar to that of straight males. This, too, had been informally observed for a long time, but in 2000 a study at the University of California, Berkeley, seemed to validate it.

Lesbians also seem to have differences in the inner ear—of all unlikely places. In all people, sound not only enters the ear but leaves it, in the form of what are known as otoacoustic emissions—vibrations that are produced by the interaction of the cochlea and eardrum and can be detected by instruments. Heterosexual women tend to have higher frequency otoacoustic emissions than men, but gay women don’t. Still other studies have explored a link between homosexuality and handedness (with gays having a greater likelihood of being left-handed or ambidextrous) as well as hair whorl (with the hair at the crown of gay men’s heads tending to grow counterclockwise), though there are differing views on these last two.

Clearly, none of us choose our genetics or finger length or birth order or ear structure, and none of us choose our sexuality either. As with so many cases of politicians saying scientifically block-headed things, Carson either doesn’t know any of this (and as a doctor, he certainly should) or he does know it and is pretending he doesn’t. Neither answer reflects well on his fitness for political office.

TIME Ideas hosts the world's leading voices, providing commentary and expertise on the most compelling events in news, society, and culture. We welcome outside contributions. To submit a piece, email ideas@time.com.

TIME Innovation

Five Best Ideas of the Day: March 4

The Aspen Institute is an educational and policy studies organization based in Washington, D.C.

1. We’re measuring family poverty wrong. We should measure access to opportunity to find out what’s really working.

By the Annie E. Casey Foundation

2. Anxiety, depression and more: “Four to five times more” high school athletes struggle with mental health issues than concussions.

By Gary Mihoces in USA Today

3. They provide social order and an economic structure. What if prison gangs actually make life better behind bars?

By Shannon Mizzi in Wilson Quarterly

4. Scientists have released the genetic sequence of the 2014 Ebola virus to crowdsource solutions to future outbreaks.

By Fathom Information Design

5. If new technology really cut jobs, we’d all be out of work by now.

By Walter Isaacson in the Aspen Journal of Ideas

The Aspen Institute is an educational and policy studies organization based in Washington, D.C.

TIME Ideas hosts the world's leading voices, providing commentary and expertise on the most compelling events in news, society, and culture. We welcome outside contributions. To submit a piece, email ideas@time.com.

TIME Research

Humans Are Genetically More Similar to Their Fathers, Study Finds

Sorry mom

Every parent wants their child to be just like them, but new research shows that dads may have an advantage at least from a genetic standpoint.

According to a study by the University of North Carolina’s School of Medicine and published in the journal Nature Genetics, mammals use more DNA from the father than the mother when undergoing mutations — the genetic process that makes us who we are.

The researchers, led by genetics professor and senior author Fernando Pardo-Manuel de Villena, tested the genetic mutations of specially crossbred mice to see which mutations altered gene expression. Of the 80% that did, several hundred genes showed a “genome-wide expression imbalance in favor of the dad,” first author James Crowley told Science Daily. “This imbalance resulted in offspring whose brain-gene expression was significantly more like their father’s.”

The authors believe a similar bias would exist for human subjects. Pardo-Manuel de Villena called the results “an exceptional new research finding that opens the door to an entirely new area of exploration in human genetics.”

[Science Daily]

TIME Obesity

New Genes Mean the Future of Obesity Treatment Could Get Personal

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Getty Images

Scientists have uncovered a trove of new genetic targets that could lead to better treatments for obesity

It took the genomes of nearly 340,000 people and more than 400 researchers in two dozen countries, but we now have the most comprehensive picture so far of the genetic contributors to obesity.

Two new papers in the journal Nature describe the results of two studies that connected the obesity-related factors of body mass index (the ratio between height and weight) and fat distribution to their potential genetic drivers. The studies did not isolate specific genes—at least not yet—but identified areas in the human genome where people with different BMIs and different patterns of fat distribution varied in their genetic code. Those variants will lead scientists to the genes they code for, and eventually to how those genes work in contributing to obesity.

MORE: Healthy-Obesity Gene Found—But Genes Aren’t Everything

“I think we have so many more opportunities now to learn about the biology of obesity through genetic contributions to these traits,” says Karen Mohlke, professor of genetics at University of North Carolina and the senior author of the report focusing on body fat distribution.

Those genetic clues may yield new weight-management treatments that are both more powerful and more personalized. “What the data supports is the fact that there are a lot of different causes of obesity,” says Dr. Elizabeth Speliotes, assistant professor of internal medicine and computational medicine and bioinformatics at the University of Michigan and senior author of the paper on body mass index. “If you’re hoping for one cause of obesity, that’s not reality. What causes you to be obese is probably slightly different from what causes me to be obese.”

Currently, however, all obesity is treated pretty much the same way. With the new knowledge gleaned from the genetics of what’s driving different types of obesity, that may change.

MORE: Gym vs. Genes: How Exercise Trumps Obesity Genes

In the study involving factors contributing to BMI, Speliotes and her team discovered 97 genetic regions, or loci that account for nearly 3% of the variation among people on BMI. Of those, 56 are entirely new. Many of the regions are in areas that code for nervous system functions, or brain systems. Some aren’t so surprising—they confirm previous studies that have implicated genetic regulators of areas that control appetite, for example—but others were more unexpected. They involved regions responsible for learning, memory and even emotional regulation, hinting that some of weight and obesity may be tied to the addiction and reward pathways that help to reinforce behaviors like eating with feelings of pleasure and satisfaction. “There were definitely a lot more loci involving the brain than I would have guessed,” says Dr. Joel Hirschhorn, director of the center for basic and translational obesity research at Boston Children’s Hospital and Harvard Medical School and one of the co-authors. “That makes obesity much more of a neurobehavioral disorder than just the fact that your fat cells are more efficient or less efficient.”

MORE: Study Identifies Four New Genetic Markers For Severe Childhood Obesity

They also uncovered some truly head-scratching connections between some genetic variants that contributed to higher BMI and lower risk of diabetes, heart disease and triglyceride levels. That suggests that there may be some protective genetic factors that counteract the effects of higher BMI, and exploiting these may be an entirely new way of treating obesity.

The group that zeroed in on the genetic factors directing how body fat is distributed had similar findings. Mohlke and her colleagues looked at the waist-hip ratio and found 49 areas in the genome that varied among the participants, 33 of which were entirely new. Most of the variants involved logical processes such as the formation of HDL and LDL cholesterol, triglycerides and processing of insulin.

MORE: New Genes Identified in Obesity: How Much of Weight is Genetic?

What was interesting, however, was the fact that many of these exerted much more power on women than on men, suggesting the need to recognize gender-based differences as a critical factor in future obesity therapies.

The findings, all of the authors stress, are just the beginning of a deeper understanding of what is driving obesity in its many forms, and how best to intervene with more personalized and potentially more effective treatments. Genes, they say, only play a part in obesity, but these studies are the first step toward a better appreciation of how genes are involved in behaviors that influence what and how much we eat. “We don’t know how much impact each of these genetic loci are going to have on whether people will need different treatments,” says Hirschhorn. “But these papers provide the tools to start answering that question. It’s possible that if we know a lot more about how somebody came to be obese, then we will know more about what to do about it.”

TIME Research

23andMe Finds Genes for Motion Sickness

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Getty Images

The personal genomics company 23andMe has identified 35 genetic factors tied to motion sickness, according to a new study published in the journal Human Molecular Genetics.

In what the company says is the first ever genome-wide study looking at motion sickness, 23andMe was able to determine several genes that may be tied to the nausea associated with movement in a car or on a boat. Motion sickness affects around one in three people, and prior research has suggested that it could be hereditary.

The researchers, who are employed by 23andMe (or have been in the past) and own stock options in the company, used genetic data from more than 80,000 23andMe customers. They found that many of these genetic factors were involved in balance, eye and ear development and the nervous system. Overall, the effect appeared to be stronger in women.

Read more: Genetic Testing Company 23andMe Finds New Revenue With Big Pharma

The study also found links between risk for motion sickness and a greater likelihood of having migraines, morning sickness and vertigo.

It’s still unclear what the actual drivers are, and even if a person has the gene variants linked to motion sickness, it doesn’t mean they will definitely have the condition. Genome-wide association studies like the one performed by 23andMe can only find correlations, but they’re still useful strategies for finding at-risk genes.

TIME medicine

Genetic Testing Company 23andMe Finds New Revenue With Big Pharma

The company’s database of genetic information is worth $10 million to Genentech

The past two years have been a rough and transformative time for the controversial DIY genetic testing company 23andMe. At the end of 2013, the Food and Drug Administration requested that the company shut down its main service, an analysis of a person’s genome gleaned from spit samples that anyone who purchased a kit could send in, noting that interpreting human genes—understanding what changes in DNA mean, and how they contribute or don’t contribute to disease—is still too much of a black box.

But things may be looking better for the company in 2015. On Jan. 6, it announced a $10 million partnership with biotech company Genentech, which will sequence the entire genomes of 3,000 23andMe customers with a higher risk for developing Parkinson’s disease. Genentech is hoping the information will speed development of more effective drugs against the neurodegenerative disorder, in which motor nerves in the brain start to deteriorate. “What attracted us to 23andMe and this opportunity is the work 23andMe has done together with the Michael J. Fox Foundation in the Parkinson’s space,” says Alex Schuth, head of technology innovation and diagnostics for business development at Genentech. “They have built a community of individuals and their family members who have contributed DNA samples. What is unique about this cohort is that it gives us an opportunity to connect clinical data on how patients feel and how their disease is progressing, with their genomic data. That’s unique.” The 23andMe customers will be asked to sign new consent forms as part of any Genentech studies.

MORE Time Out: Behind the FDA’s Decision to Halt Direct to Consumer Genetic Testing

The agreement is one of many that 23andMe CEO and co-founder Anne Wojcicki says are in the works, and hint at the company’s most valuable asset—the genetic information on the 800,000 customers who have sent in their DNA-laden saliva since the company began selling kits in 2006. “Databases, and big data, is suddenly trendy,” says Wojcicki, “especially in health care where people are recognizing that when you have really large numbers, you can learn a lot more. I think we are leading part of that revolution.”

But for the past year, the company hasn’t been sending back health information to customers who pay the $99 for an analysis. Instead, customers are getting reports on their genetic ancestry, with the promise that when the FDA permits it again, they will receive health-related information based on their genetic profile. Wojcicki says that since the FDA action, sales of the kits have been cut by about half, and while they are slowly climbing back up, they haven’t yet reached pre-2013 levels.

Regaining that market is a top priority for 23andMe, says Wojcicki. “Everyone at the company has some kind of role, some involvement, in thinking about the FDA,” she says. “It has transformed the entire company—our product, our execution, how to think about marketing, every aspect of it.” The two entities are exchanging requests and responses, and while she hopes to have a resolution in 2015, it’s not clear yet when the health-related services will be offered.

In the meantime, the genetic information 23andMe has already collected is becoming a potential gold mine for academic researchers and for-profit drug developers. The company has more than 30 agreements with academic researchers for which they receive no monetary compensation, so that scientists can learn more about certain diseases and contribute to basic knowledge about what goes wrong in those conditions. Wojcicki says she’s balancing opportunities with both non-profit and for-profit companies to optimize the value of 23andMe’s database. “Some research has absolutely no monetary capacity, and we should still do those, because fundamentally what 23andMe does is represent the consumer,” she says. “And some research does have monetary capacity, and we should do those too. Because the reality is that the group that is going to develop a drug or treatment or therapy for something like Parkinson’s disease is going to be a for-profit company.”

Read next: These GIFs Show the Freakishly High Definition Future of Body Scanning

Listen to the most important stories of the day.

TIME Cancer

Most Types of Cancer Just ‘Bad Luck,’ Researchers Say

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JUAN GARTNER—Getty Images/Science Photo Library RF Lymphocytes and cancer cell

Two thirds of cancers could be explained as biological misfortune

Researchers have found that bad luck plays a major role in determining most types of cancer, rather than genetics or risky lifestyle choices such as smoking.

The results, published in the journal Science on Thursday, found that random DNA mutations that amass in the body when stem cells divide into various tissues cause two thirds of cancers.

After examining 31 cancer types, researchers found 22 were from mutations in stem cells that could not be prevented.

Cancers that could be explained with biological bad luck included pancreatic, leukemia, bone, testicular, ovarian and brain cancer.

But the researchers say lifestyle choices such as avoiding smoking, eating healthily and staying out of the sun will help to prevent certain cancers, just not all of them.

Read next: Medicine Is About to Get Personal

Listen to the most important stories of the day.

TIME medicine

Genetic Screening Saved This Baby’s Life

Researchers say sequencing genomes can lead to quicker diagnoses and effective treatments for more than half of children affected by brain disorders

Mya Burkhart was only six months old when she went into cardiac arrest. Fortunately, she was in the hospital when it happened, brought there by her parents because she had trouble breathing. It was her eighth or ninth visit to the emergency room for her respiratory problems, but each time the doctors had sent the Burkharts home with more questions than answers.

Mya wasn’t developing at the normal rate. She couldn’t lift her head and wasn’t responding to people and things around her. Doctors thought she might have a muscle disorder, but her other symptoms did not fit with that diagnosis.

After her heart scare, Mya spent three weeks, including her first Christmas, in the ICU on a ventilator. “I couldn’t pick her up or anything,” says her mother Holly. Still unable to solve the mystery of what was ailing her, the doctors finally suggested she have her genome tested. Maybe, they hoped, her DNA would offer some clues about why she wasn’t growing normally.

MORE: The DNA Dilemma: A Test That Could Change Your Life

Holly knew the test was still in the research stages, and that there was a chance that even it might not yield any more answers about her daughter’s condition. “At that point, I just wanted to try anything to find out what was wrong with her,” she says. It boiled down to balancing a chance that their baby would live or die.

Genetic screening, especially whole-genome screening in which people can learn about their possible risk for certain diseases, remains controversial, since the information is neither definitive nor always accurate. In most cases, genes can only predict, with a limited amount of certainty, whether a disease such as breast cancer or Alzheimer’s looms in a person’s future. As the Food and Drug Administration (FDA) contemplates the merits and efficacy of such screening, some doctors and researchers are using it with great success, according to a new study published in the journal Science Translational Medicine.

Researchers at Children’s Mercy Hospital in Kansas City, where Mya was treated, say that for 100 families, including the Burkharts, with children affected by either unknown disorders or brain abnormalities, genome screening helped 45% receive a new diagnosis, and guided 55% to a different treatment for their child’s disorder. Of the 100 families, 85 had been going from doctor to doctor in search of a diagnosis for an average of six and a half years.

“I was surprised by how many cases we found where a specific intervention can make a difference,” says Sarah Soden from the Center for Pediatric Genomic Medicine at Children’s Mercy and the study’s lead author. “For me it’s compelling enough to push the envelope and get younger kids diagnosed.”

MORE: Faster DNA Testing Helps Diagnose Disease in NICU Babies

In Mya’s case, her genome revealed a mutation in a gene responsible for transporting citrate; without it, her cells could not get the energy they needed. So far, only 13 babies have been confirmed with the condition, and all died before their first birthday after having seizures and respiratory infections. Once the genetic analysis revealed the deficiency, however, Mya was started on citrate supplements. She’s now 18 months old, having already lived nearly twice as long as the other confirmed cases. She has some developmental delays but she has not had any seizures and managed to avoid getting any serious respiratory infections.

Their success at Children’s Mercy are encouraging Soden and the study’s senior author, Dr. Stephen Kingsmore, to push ahead and determine how such screening can benefit more babies. About 5% of the 4 million babies born in the U.S. each year are admitted to the neonatal intensive care unit (NICU), and between those who are born with a genetic disorder and those who may have adverse drug interactions, he and his team anticipate that about 30%, or 60,000, may benefit from the personalized screening they offer.

For now, he and his team are targeting babies like Mya who are sick almost from the minute they enter the world, with symptoms and abnormalities that doctors simply cannot explain. For them, the screening can save families from uncertainty as well as the financial burden of having many different experts perform many different tests looking for a diagnosis. The average genetic sequencing for newborns costs around $5,000, but the average cost of a night’s stay in the Neonatal Intensive Care Unit (NICU) hovers around $8,000, and most babies spend days, if not weeks, in the units awaiting a diagnosis.

Kingsmore received a $1.5 million grant from the NIH to expand the screening program to other institutes, and he has reached out to hospitals in Florida, at the University of Maryland and in Oklahoma City to test the strategy in more babies. “If we can decrease the length of stay in the NICU it could certainly lead to huge potential cost savings,” says Dr. Alan Shuldiner, associate dean of personalized medicine at the University of Maryland.

In the latest study, Soden says that on average, families spent more than $30,000 on genetic testing alone to figure out what was ailing their babies; those who had their genomes screened paid about $3,000 for an answer.

The key to Kingsmore’s success is a system that starts with a doctor punching in a newborn’s baffling symptoms and ends with a genetic readout. The “magic juice,” as he calls it, is a database of 10,000 symptoms that typically affect infants, from simple coughs and fevers and enlarged hearts to all manner of abnormal lab readings. The baby’s unique combination of these symptoms is mapped onto the 3,000 genes that experts have so far connected to about 4,000 diseases. “No physician on the planet earth could carry that database around in his head,” says Kingsmore. But that’s what desperate parents, whose babies’ lives are at stake, expect them to do. So Kingsmore’s program accomplishes the feat, spitting out, in rank order, a list of potential genetic diagnoses. That targeted tally of diseases then directs doctors to focus on a much more manageable list of 10 or, at the most, 50 genes (from a possible 20,000 or so) that could be mutated and responsible for the baby’s condition.

While there is no argument that such testing can save lives, the more challenging question is who should be tested, and when. There is also still debate among those in the genetics and medical communities about how to interpret genomic data. “Some people would argue that he is still reporting his experimental findings, and moving too soon from the research arena into the clinical arena,” says Dr. Edward McCabe, chief medical officer of the March of Dimes.

Ethicists are concerned about the coerciveness inherent in any hand extended to parents whose babies would otherwise die; no matter how carefully and comprehensively doctors word their request, parents in that situation may not fully process the risks and benefits and be unable to provide a truly informed consent. What if the baby falls into the minority for whom the testing doesn’t yield a diagnosis or treatment? When faced with inevitable death on the one hand, and a chance, however, small, of avoiding that death on the other, can there ever really be a choice?

The stakes are especially high since in some cases, the disorders won’t lead to established and approved treatments, but experimental ones without known risks and benefits. But as the value of such testing becomes more obvious, more centers may consider sequencing more newborns’ genes. “These babies, because they are brand new, are salvageable,” says Kingsmore. “Many patients we see with genetic illnesses already have ravaged organs. In contrast, with newborn babies we have the opportunity to halt a disease early in its progression,” he says.

“I think this testing is definitely something that everybody should consider,” Holly Burkhart says. “Without it, we probably never would have figured out what was wrong with Mya. We probably would be in the same place we were a few months ago.” Instead, Mya is now smiling at her mom and making progress. “The testing helped us find answers, and tell us where we need to go from here,” she says.

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