Question

Please read the article bellow and discuss the shift in the company's approach to genetic analysis. Please also discuss what you think about personal genomic companies' approaches to research. Feel free to compare 23andMe's polices on research with another company's. Did you think the FDA was right in prohibiting 23andMe from providing health information?

These are some sample talking points to get you thinking about the ethics of genetic research in the context of Big Data. You don't have to answer all of these questions and I highly recommend that you bring up other talking points. You could find a more recent paper on 23andMe or look up their more current policies and discuss those.

Can 23andMe have it all? The consumer genetics company has amassed DNA from more than a million people. Now, it wants to find drugs to treat them By Kelly Servick, in Mountain View, California ow much do your eyes water when cutting onions? Does fresh cilan- tro taste like soap to you? Do you have stretch marks on your hips thighs, or the backs of your arms? Have you ever been diagnosed with brain cancer? ries about your tastes and habits. Others are intimate probes into your experiences with disease and medicine For the team of more than 30 geneti abled the Silicon Valley firm to outlast most of its competitors and become a poster child for the fledgling field of direct-to-consumer genetic testing. 23andMe suffered a major setback in 2013 when the U.S. Food and Drug Admin- istration (FDA) warned the firm it was il- legally returning health information using tests that the agency hadn't vetted. But even though the growth of its customer base slowed after the company pulled the health data from its personal genome service for new customers, 23andMe's research team cists and statisticians behind one of the O world's largest genetic biobanks, the sur- veys are bread and butter, allowing them to pin down links between DNA mark- ers and people's health, appearance, and bodily idiosyncrasies. New medical and physiological connections have been in- corporated into the $99 analysis, adding Mail off your spit for a $99 ge- netic analysis from 23andMe, and you will get information about your ancestry, served up on a web account. You will also en counter a list of optional survey questions. A lot of survey questions. Some are quirky que- value for customers. The formula has en- 6 1472 sciencemag.org SCIENCE 25 SEPTEMBER 2015 VOL 349 ISSUE 6255 Published by AAAS pushed ahead. Today, the company has lion to explore, with the promise of up to $50 million more. 23andMe went even further in March, 23andMe analyzes its customers' DNA with a customized "SNP chip." which uses fluorescent tags to identify 650,000 potential genetic variants. collected DNA from more than a million people. (That amounts to more than 2000 liters of saliva.) And its self-curious custom- ers seem almost addicted to participating in research; they collectively answer about 2 million new survey questions every week as the company searches for new health- related DNA sequences Gradually, a research group that started out analyzing the genetics of freckles and the sneeze reflex has moved into deeper sci- when it announced that it would hire a therapeutics team and begin drug discovery efforts of its own. That's a move even some outfitted with standing desks sits idle on the other side of the room This is a building that Wojcicki, 23andMe's co-founder and CEO, intends to grow into. In May, the company abandoned its previ- ous nest on the campus of Google, Moun- tain View's most famous corporate resi- dent. Google 23andMe and an influence on Wojcicki's vi- sion. A biologist and health care investment analyst, she launched the company in 2006 with biologist Linda Avey and financial exec- of its champions see as audacious. "Their main contribution, to me, has been democ- ratization of genomics," says Eric Topol, a physician and geneticist at the Scripps Re- search Institute in San Diego, California, who studies digital health technologies. "This is a very different look, and a pivot Maybe they'll accomplish it, but there are a lot of entities out there that are trying to develop drugs." was both an early investor in entific waters: the hunt for disease-related genes that could make good drug targets "It's really been an evolution from, "Tell us whether you're a morning person or not, to 'Let's solve disease," says Joyce Tung, 23andMe's director of research The company says it has made roughly 30 deals with pharmaceutical and bio- tech companies seeking access database-14 of them last year, most of them undisclosed. "There's no other group that has as many samples," Tim Behrens, Genentech's senior director of human ge- netics in San Francisco, says of 23andMe's database of Parkinson's disease patients, which Genentech paid an initial $10 mil- utive Paul Cusenza based on what she calls a social mission to "integrate genetic informa- tion into the world" and on the theory that collecting DNA and health information from every person could turn disease research into "a data problem." Tung, lured away from academia after a postdoc at Stanford University in Palo Alto, in which she studied the genetics of pigmen tation in mice and people, company's first recruits. At the time, skep- 23ANDME SITS ALONG THE CALTRAIN tracks in downtown Mountain View, in a four-story glass cube that doesn't quite feel lived in yet. The company logo, a whimsical doodle of pink and green crisscrossed chro- mosomes, is still taped above the entrance, printed white paper. On this summer morning, Anne Wojcicki is breezing around the de- serted staff cafeteria in flip flops, prepar- ing a hard-boiled egg. A row of treadmills to its across four sheets of letter-sized was among the ticism abounded about the firm's vision of SCIENCE sciencemag.org 1473 25 SEPTEMBER 2015 VOL 349 ISSUE 6255 SPECIAL SECTION MUTATION AND HUMAN DISEASE gleaning valuable data from cheap genetic test and an online survey. "My postdoc adviser was like 'Well, it's nice that smaller projects have targeted sarcoma, myeloproliferative neoplasms-a group of rare bone marrow diseases-inflammatory bowel disease, and lupus. All of the survey responses and genotypes stripped of identifying information to protect privacy. And the participants read ily volunteer more data. When the team sends out a new survey question, Tung says it's not unusual to get millions of fresh data points within 24 hours. That responsiveness sets the 23andMe cohort apart from the average subjects recruited into a research study, who are often "ready to quit at the relatively other variants that are likely to be inherited alongside those tested directly. For its customers, 23andMe uses the SNPS to predict ancestry and other traits. The analysis customer's DNA originates from a popula- tion in Northern Europe, for example. And until 2013, it could warn about potentially elevated risk of conditions including Parkin son's disease, breast cancer, and cardiomy- opathy. (One of the company's initial analy ses famously informed Sergey Brin, Google's co-founder and Wojcicki's ex-husband, that he has a gene that substantially increases you guys want to do research, but you're going to find anything real-like medi cal, or anything like that," she recalls. can say what percentage of never 127 аге In a glass-walled meeting room upstairs from the cafeteria, Tung's thunderous laugh rings out at unpredictable moments. When asked what makes the database valuable for researchers now, she stretches her arms dra- matically and exclaims: "It's big!" 23andMe has extracted genetic informa- tion from its growing stockpile of samples 23andMe Downlbaded from http://science.sciencemag.org/on / 23andMe's scientific leadership (left to right): research director Joyce Tung, principal scientist David Hinds, senior research director Joanna Mountain, Chief Executive Officer Anne Wojcicki, platform architect Arnab Chowdry, and head of therapeutics Richard Scheller. by testing them for single nucleotide poly- | his risk of Parkinson's; Brin, who publicly | drop of a hat," says George Church, a ge- morphisms (SNPS, pronounced "snips"), relatively common variations in a DNA base pair. DNA from each customer's saliva is broken into fragments and washed over a "SNP chip"-a credit card-sized plate of microscopic silica beads covered in DNA probes. Each single-stranded probe grabs the DNA fragment with a complementary sequence, leaving exposed the DNA letter location of interest. Then, free-floating nucleotides with fluorescent tags bind to and reveal the identity of that SNP. Biophysicist Arnab Chowdry, responsible for 23andMe's technology platforms, is al- ways trying to squeeze more from the limited chip real estate. The cur-tain patient populations in exchange for rent model detects 650,000 SNPS, but using publicly available reference genomes, the team can also predict more than 14 million neticist at Harvard University and a mem- ber of 23andMe's scientific advisory board. "The 23andMe cohort-for whatever reason, disclosed that finding, has since become a major funder of research into the disease.) Using survey responses from more than 800,000 customers who have agreed to takethey're highly engaged" part in the research, 23andMe's scientists look for new links between SNPS and physi- cal traits, or phenotypes. Their stock-in- trade is the genomewide association study single 23andMe has cultivated this community carefully. Its researchers devote part of their time to studies that will pique customer in- terest, but that are unlikely to win grants from the National Institutes of Health. (GWAS): They group customers who share phenotype-haters of cilantro, or those with type 2 diabetes-and identify SNPS frequently in that group They've found four SNPs associated with a tendency to develop stretch marks, for ex- ample, and observed that a variant nestled among olfactory receptor genes turns cilan- tro soapy for certain tasters Yet the online surveys that have helped at a that occur more than a control. Since 2009, 23andMe has also provided its personal genome service for free to cer- information 23andMe's database flourish have also their participation in more focused, disease- specific surveys. Its Parkinson's disease "community made it a questionable source of informa- tion in the eyes of some disease research- ers. "It was met with incredible skepti- now includes 12,000 people; 1474 sciencemag.org SCIENCE 25 SEPTEMBER 2015 vOL 349 ISSUE 6255 Published by AAAS cemag.org/on August 3, 2017 3anvwz 3NNV30 O1OHd SPECIAL SECTION MUTATION AND HUMAN DISEASE cism," says Mark Cookson, a cell biologist studying Parkinson's disease at the Na- tional Institute on Aging's laboratory of neurogenetics in Bethesda, Maryland. Ca- sual questionnaires seemed to many to be a poor substitute for a medical exam or a patient's health records. "The clinical guys were saying, Well hang on, if you don't know that someone has Parkinson's, how will you get clean data sets?'" Cookson says that skepticism has faded somewhat. For one thing, the search for sta- tistically significant associations between a trait and a DNA sequence "is a numbers game," he says, and with enough responses, concerns about reliability "melt a little bit." And 23andMe has shown in several studies A cohort of customers More than a million people have had the DNA from their saliva analyzed by 23andMe, most paying $99 for the service, and more than 800,000 have allowed that DNA to be used in research Customer age 140,000 70,000 0 40 10 20 30 50 60 70 80 90 100 Decadal distribution Customer ancestry that the associations its researchers turn up match results from other groups By 2012, 23andMe had 180,000 customers, and had contributed to studies identifying new genetic associations for freckles, curly hair, alopecia, Parkinson's disease, and hypothyroidism. At that year's annual gathering of the American Society of Human Genetics (ASHG), 23andMe's prin- cipal scientist, statistical geneticist David Hinds, noticed that his status had changed. "Between one ASHG meeting and the next, it went from largely disinterest in what we were doing-thinking it was not very relevant-to being approached by lots of people who were interested in collaborat- ing with us, getting access to our data." As of this summer, the 23andMe team had put out more than 30 papers, many of them in collaboration with academic labs more than Latino 10% European 77% African American East Asian 5% 4% South Asian Other 2% 2% A saliva stockpile Number of customers A saliva stockpile collaboration with academic labs. The 23andMe team has also demon- strated-retrospectively-that its database can help guide drug discovery. At the 2014 ASHG meeting, they presented an analy- sis of 2751 candidate drugs showing that 23andMe data could predict which ones succeeded in clinical trials. They observed a nearly twofold increase in the odds that a drug would ultimately be approved by FDA if the 23andMe database revealed an asso- 2-liter bottle ciation between the disease trait and a SNP somewhere on or around the gene whose product the drug targeted, compared with a drug without a genetic association 2 mL per sample But association studies alone are feeble drug discovery tools. The SNPS linked to a disease are often just markers for a nearby region of the genome where the real disease- influencing mutation lies. Association stud- ies also fail to lay out how illness might arise from a mutation, or how targeting gene product might affect the body. Until recently, a the end of the road" for the 23andMe team, Hinds says. "We were pretty limited, be- cause we could find associations, but we're not set up to do biology" a completed GWAS was "sort of 6' human figure -2000 liters of saliva collected 1476 sciencemag.org SCIENCE 25 SEPTEMBER 2015 VOL 349 ISSUE 6255 Published by AAAS standby, the SNP chip, to partial- or full- genome sequencing. SNP chips erally geared toward flagging common mutations-occurring in roughly 3% to 5% of the population-and these have so far failed to explain a large percentage of a person's really done that, so it would be churlish of genetic risk for common diseases. 23andMe's chip has been tweaked to include many SNPS, but it can't physically accommodate hundreds of uncommon variants for every given gene. And it can only probe for known mutations-not reveal new ones. Newer efforts to scan huge collections of DNA for disease-causing mutations- including geneticist J. Craig Venter's San Diego-based Human Longevity, Inc. and the 1-million-person cohort launched in January as part of President Obama's pre cision medicine initiative-are betting on large-scale genome sequencing instead (see sidebar, p. 1475). As DNA sequencing gets cheaper, "a whole realm of genetic variation that we've just not had access to is possible," a DNA region suspected of having a disease connection to a druggable target. "Can they get smart enough to really make contribu- tions to the next stage? he says, "But not that many people have INDEED, THE COMPANY'S WIDE-OPEN office space is more suggestive of a generic Silicon Valley internet startup than a biotech lab. Headset-clad customer service repre sentatives field calls at their standing desks. "Welcome to our gene pool" balloons flag the workstations of new hires But Richard Scheller, the most conspic- uous new hire, is here to do biology. Last December, on the same day the 61-year-old drug discovery veteran announced his re- tirement from a 15-year career at Genentech, he got an email from Wojcicki. "I knew he had not retired," she says. "I grew up on Stanford's campus. I know his phenotype. That man is never going to stop." Wojcicki says she had long been debating whether the company should do its own drug discov- ery, and Scheller's enthusiasm for the idea pushed her over the edge At 23andMe, Scheller is on foreign ground. The informatics experts on Tung's team are not his scientific ilk. "They gorithms with famous statisticians' names behind them, and I have ab solutely no idea what they're talk ing about," he says Drug discovery is new territory for 23andMe's core research team, are gen I don't know" me to say, 'Oh, those guys will never do it' I haven't done it either" гагer FORALL THE BUZZ around 23andMe's new foray into therapeutics, much of Wojcicki's energy is focused on a more immediate business goal: relaunching its cons sumer health service. That service was shut down after FDA warned that the company hadn't demonstrated that its health-related tests responsibly communicated to customers, who might be confused or alarmed by the estimates of properly validated, were or C disease risk Wojcicki says the run-in with the agency poor understanding of government regulation and what was ex- pected. 23andMe is now working with FDA to bring its health reports for customers back by the end of the year. In February, the agency ap- proved 23andMe's test for whether a person carries a recessive muta- tion that could give offspring Bloom syndrome, a rare disease that affects the stability of DNA structure and from arose a. use al- "It's really been an evolution from, 'Tell us whether WELCOME TO OUR GENE POOL too. The group has long aspired to influence how drugs are developed, says Chowdry, but "I don't think most of us really imagined that we would ever bring it in-house." Still he quickly got on board. "If we ac- tually believe that there's value in the database-which all of us do- you're a morning person or not,'to Let's solve disease." elevates the risk of cancer. FDA also exempted other such carrier tests from its premarket review process, meaning the company won't have to seek approval before providing C Joyce Tung 23andMe's director of research having it in-house means that we get a bigger chunk of the value." As head of the new therapeutics group, those results to customers. But it's says Genentech's Behrens, who is heading an effort to sequence the genomes of 3000 Par- not clear whether or when 23andMe will re- sume providing other kinds of health infor As head of the new therapeutics group effort to sequence the genomes of 3000 Par- kinson's patients in the 23andMe database He says the company decided to ramp up its sequencing projects when the cost dipped to about $1600 last year sume providing other kinds of health infor- mation, such as drug responses and disease risks. "There's going to be a path forward" Wojcicki says, but "we might have to make Scheller plans to hire about 25 scientists by sometime next year, and to double the team again in another year. He is checking out po- tential lab space in South San Francisco and talking to contract labs. Slowly, 23andMe may start to look more like a typical biotech firm, doing the dicey work of drug develop- ment: finding candidate genes, screening compounds that might interact with them or their proteins, testing the compounds in animals and then in people. The company has revealed almost noth- ing about what its new group will pursue. The only area definitively ruled out is neuro- psychiatric disease-because of its "particu- lar complexities," says Scheller, who headed a Stanford neuroscience lab before joining Genentech. He also says that 23andMe's first drug candidates will likely be antibodies that target disease-related molecules, be- certain kinds of compromises." Meanwhile, the company is quick to dis- miss the idea that it's shifting focus away from spit kits-and the customers whose on their experiences with cilantro and cancer built the drug dis- covery platform in the first place. "We make a consumer product," Tung says. Part of her responsibility, she says, is to figure out most of that sequence would be completely"what is the next coolest thing that we can 23andMe has preserved many other saliva samples, with the customers' permission, and they are ripe for fuller sequencing. But $1600 is still astronomical in the context of 23andMe's model of $99 genotyping for the masses. "Some people ask me, 'Wouldn't it be much better if you just did sequences?" Scheller says. "That would be $2 billion, and аге willingness to expound uninteresting to us." Instead, he intends to use SNPS to identify interesting regions of provide back to our customers?" In that light, there's a certain "inevitable logic" in a consumer genetics company turn ing to drug discovery, says Michael Eisen, (Wojcicki says the company will eventually a biologist at the University of California, Berkeley, and a member of 23andMe's scien- tific advisory board. "If there's really a long- term future in this, if it's anything than just a curiosity for people, we've got to tions of genome-based drug development,be able to use people's genetic information to provide them with actual treatment sequencing to the genome, and then use zoom in on those regions in certain patients. integrate sequencing into the personal anal- ysis it provides to consumers.) they are easier to make than small The bigger hurdle facing 23andMe is confronting any group with ambi- cause аге more molecule drugs. Running a drug discovery program will mean going beyond 23andMe's old the one Cookson says: the challenge of moving from SCIENCE sciencemag.org 25 SEPTEMBER 2015 vOL 349 ISSUE 6255 1477 Published by AAAS

Answer 1

Human genome project started in 1990 and completed in 2003, 13 years project completed by government agencies NIH and private sector Celera Genomics, was great work done in the field of genetics.

As similar to it, 23andMe, has been working in the field of genetics and do a lot of research for human welfare. They provide better treatments and design personalized medicine to us at low cost. Besides that, we can also know our ancestoral history or genetic relationships. This copy provides personalized medicine at very reasonable charges and also give all the genomic data to the patient for future study.

The prohibition taken by the FDA against this company is unjustified, because the strategy and facilities they provide to our society is very precious. And there is no ethical issues related to their work, because it's an independent work and, our own choice to choose their terms and conditions for the treatment.

Other than it, the data collected by them also beneficial for the research and development sector.

The studies, survey and genome data analysis in future help us to solve the mystery behind the curcial disease or genetic disorders, helps to design personalized medicine for better health care at cheaper cost and also to study evolutionary realtionship or to find ancestoral realtionship of human society.

The most important point is that, the succesful growth of 23andMe against all the odds because of the the benefits they provide to their customers.