navigenics
navigenics' s ceo, vance vanier, currently has an approval rating of 29% . navigenics' s primary competitors are
navigenics. the science behind the navigenics service. 1 (866): 1–13. urltoken. accessed 20 january 2011 .
owler has collected 16 screenshots of navigenics' website since apr 2012. the latest navigenics website design screenshot was captured in aug 2017 .
navigenics currently has 73 fans on facebook. as of july 2013 navigenics had 52 fans. that' s a 40 percent increase in 5 years
navigenics provides personal genetic testing and analysis services. navigenics is a private company. vance vanier is the ceo of navigenics and has an approval rating of 29 from owler members. kleiner perkins caufield & byers, mohr davidow ventures, and sequoia capital are some of navigenics' s investors. navigenics' s top competitor is 23andme, led by anne wojcicki, who is their co - founder & ceo. navigenics has 693 followers on owler .
23andme is the biggest rival of navigenics. 23andme is headquartered in mountain view, california, and was founded in 2006. like navigenics, 23andme also operates in the biotechnology space. 23andme generates 89% the revenue of navigenics .
since navigenics was founded in 2001, it has participated in 2 rounds of funding. in total navigenics has raised $ 43. 0m. navigenics' last funding round was on nov 2007 for a total of $ 25. 0m
navigenics currently has 3, 110 followers on twitter. as of july 2013 navigenics had 3, 229 followers. that' s a 3 percent decrease in 4 years
mari baker, chief executive of navigenics, said she was satisfied with the outcome .
navigenics’s $ 1, 000 service offers only health - related information, not genealogical data as 23andme’s does. navigenics also offers genetic counseling to help people understand their test results .
check out 7x7' s hot 20 under 40 profile with navigenics coo, sean george .
navigenics provides personal genetic testing and analysis services. navigenics was founded in 2001. navigenics' headquarters is located in foster city, california, usa 94404. it has raised 43. 0m in 2 rounds. the latest round was in nov 2007. some of n ...
i agree with many comments here… but i don’t agree that navigenics has got it all wrong .
a genetics test on the navigenics web site that allows consumers to check their risk for different diseases .
none of that information, however, was picked up by salvia samples examined by navigenics, eng said .
navigenics is a personal genomics company that uses genetic testing to help people determine their individual risk for health conditions .
navigenics has employees and is the sixth highest among it' s top 10 competitors. the top 10 competitors average 96 .
family tree dna is navigenics' s # 2 competitor. family tree dna is a private company that was founded in houston, texas in 1999. family tree dna is in the personal services field. family tree dna has 47 more employees vs. navigenics .
complete genomics has been one of navigenics' s top competitors. complete genomics' s headquarters is in mountain view, california, and was founded in 2005. complete genomics is in the health care technology industry. complete genomics generates 108% of navigenics' s revenue .
navigenics' s revenue is the third highest among it' s top 10 competitors. the top 10 competitors average $ 3. 4m .
on the other hand, navigenics listed eight men at risk for prostate cancer when their family history predicted a risk no higher than average .
23andme did not immediately return calls friday afternoon. navigenics confirmed it had received a letter. navigenics chief executive mari baker said her company continues to process orders from california residents because
to the best of our knowledge, we are in compliance
with state law. navigenics uses a doctor to transit orders and review results, and it relies on a state - certified lab testing company to do the gene tests, baker said .
this test was navigenics compass vs family history in 22 females with breast cancer, 22 males with prostate cancer and 44 people with colorectal cancer .
the president and ceo of navigenics is mari baker, formerly an executive - in - residence at kleiner perkins caufield & byers, one of the lead investors in navigenics. baker was previously the president of babycenter llc, a website for parents - to - be, owned by johnson & johnson .
essentially, to buy the navigenics service, you have to be convinced that talking on the phone to navigenics’ pet counsellors will give you $ 2, 000 worth of value that you couldn’t gain from the detailed online information provided by 23andme or decodeme – and then there’s the annual $ 250 subscription fee on top of that .
risk categorizations for 20 complex conditions included in navigenics personal genome testing were compared with risk categorization estimates derived from family history assessment using the kappa (κ) statistic .
navigenics’ annual insight service retails for $ 499 and analyzes an individual’s genetic predisposition for ten common health conditions (nine each for men and women), including breast cancer, prostate cancer, colon cancer and heart disease. the service will be available to consumers through participating health care providers or directly from the navigenics website with genetic counselor support .
navigenics issues press releases about important partnerships, genetic testing innovations, and other business developments. these include a partnership with mdvip, a medical education program with the ...
on its website, navigenics states: “we believe that you are the owner of your genetic data, and it is our responsibility to safeguard that data while helping you apply it to improve your health. navigenics will maintain industry - leading physical, electronic and operational procedures to safeguard the integrity and security of all personal genetic data and related information. ”
navigenics, inc. helps educate and empower individuals and their physicians with knowledge of their genetic predispositions, and then motivates them to act on the information to prevent the onset of disease, achieve earlier diagnosis, appropriately manage disease, or otherwise lessen its impact. navigenics' lead investors are kleiner perkins caufield and byers, sequoia capital and mdv - mohr davidow ventures .
in my own experiments, i compared results delivered by several online genetic testing websites: 23andme and navigenics, and also iceland - based decodeme. my results for heart attack produced three different overall heart - attack risks–high from navigenics, medium from 23andme, and low from decodeme. i found several less - striking contradictions for diabetes, macular degeneration, and other traits .
new york (genomeweb news) – life technologies has acquired consumer genetic testing firm navigenics, the carlsbad, calif. - based company announced after the close of the market on monday .
“it is more effective to partner with a medical institution rather than do an end - run around them with a direct - to - consumer model, ” said vance vanier, navigenics’s chief executive .
along with family health histories, the researchers used personal genome scanning tests from the company navigenics to identify whether or not someone has a higher risk for breast cancer, prostate cancer and colorectal cancer .
nearly five months after 23andme dropped the price of its genome scan service from $ 1000 to $ 400, personal genomics competitor navigenics has made its own foray into the lower - cost genetic testing market .
moreover, using targeted genotyping means that you can’t simply check your results whenever a new region of the genome is associated with one of these diseases (as you can, in many cases, if you have genome scan data) – instead, you’d have to pay to get another test done. alternatively, you could take advantage of navigenics’ offer to “upgrade to the comprehensive navigenics health compass package” – yay !
among the executives appearing in the introductory video on the company’s website is stephen fodor, founder, chairman and ceo of affymetrix. spokesperson andrew noble of affymetrix confirmed that the company is a technology partner of navigenics .
we have been working with the navigenics team for quite some time and we are pleased with the quality of their approach to bring the power of genetic technology to personalized medicine ,
said noble .
ms. billingsley said the companies also satisfied the requirement for a doctor to be involved. navigenics already was paying a physician to review customer orders and now it appears that 23andme might be doing something similar .
to learn more about navigenics and influence your genetic
fate, ” visit urltoken. 7x7 readers can get tested for $ 499 (a savings of $ 500) through november 30, 2009 by using code 7x72009 .
new york state also has taken action against at least 31 genetic testing companies, saying they cannot solicit business from new york residents. ms. baker of navigenics said a resolution with new york did not seem imminent .
navigenics recently raised a total of $ 18 million from two venture capital firms — mohr davidow ventures and kleiner perkins caufield & byers — as well as procter & gamble, which views “wellness” as a priority area for future product development .
a new california - based start - up named navigenics, boasting some impressive managerial and financial backing, has just outlined its basic mission – to provide individualized genetic health profiles to help consumers “develop a plan for wellness and prevention. ”
as blaine notes, the issue is mainly with the wording – it makes it sound as though navigenics thinks it is generous to offer access for “an entire year”. this is of course absurd given that its competitors offer unlimited access .
ms. baker of navigenics said a resolution with new york did not seem imminent. “we do think in the end this needs to be regulated at the federal level rather than as a patchwork of state regulations, ” she said .
the licenses, granted to navigenics and 23andme, should help defuse a controversy that began in june when the california department of public health sent “cease and desist” letters to the two companies and 11 others that offer genetic testing directly to consumers .
navigenics, which successfully applied to have its test licensed in new york, has now essentially put aside marketing to consumers, aiming instead at doctors. it is also courting corporations that might use the test as part of their employee wellness programs .
for the seven diseases analyzed by the researchers, only about half of the risk factors provided by 23andme and navigenics agreed for the five patients. for instance, for lupus and type 2 diabetes, three of the five subjects received conflicting results .
add to that, navigenics also wanted to offer disease related testing (i’m leaving the question of clinical utility aside here since the only people who have thought usefully about that are the decode folks, and apparently not the navis, 23s, etc. )
the estimated numerical lifetime risks for each condition, as calculated by navigenics pgt, are grouped into three categories: “less than general population” risk, “general population” risk, or “greater than general population” risk. navigenics categorized risks into the “less than” or “greater than” categories if the risk was ±20% as compared with the general population lifetime risk. for the purposes of directly calculating agreement between pgt and family history risk categorizations in this study, the “less than general population” pgt risk group was collapsed into the “general population” risk category .
navigenics has always been the most expensive of the three mainstream genome - scan companies, despite offering essentially the same product as competitors 23andme and decodeme: a genome scan examining between 500, 000 and a million sites of common genetic variation, known as snps. while its competitors charge a one - off fee of $ 400 (23andme) or $ 1, 000 (decodeme), navigenics whacks its customers with a hefty $ 2, 500 up - front fee plus a $ 250 annual subscription for its flagship product, health compass .
the state won' t identify which companies were mailed letters until it confirms those firms have received them. but high - profile gene testing companies that operate in california include 23andme, founded by the wife of a top google billionaire, and navigenics, based in redwood shores .
whether the consumer genomics services are indeed medical tests or — as 23andme contends — merely informational, is not just a regulatory issue. it is a business question, too. and the two leading companies in the business, 23andme and navigenics, have different views of the matter .
the top 10 competitors in navigenics' competitive set are 23andme, family tree dna, complete genomics, reprogenetics, recombine, on - q - ity, genomic express, courtagen, gnubio and gene by gene. together they have raised over 850. 5m between their estimated 973 employees .
to find out, the cleveland clinic' s eng recruited 44 people — 22 patients in her family cancer clinic and their spouses — for a family health history and a saliva test from one of those genomic services, navigenics, to calculate their risk for colon cancer and breast or prostate cancer .
digging deeper, the researchers found that some of the individual risk factors were strikingly different. for psoriasis, 23andme reported a risk factor of 4. 02 (four times greater) for one individual, while navigenics reported only a 1. 25 risk factor (25 percent greater), a threefold difference .
23andme cofounder anne wojcicki and navigenics cofounder david agus both agree with the recommendations. “there is a distinct need for transparency and quality in genetic association studies, ” says agus. “we are giving critical information to individuals to help them with their personal health. that information needs to be correct, or we have done a disservice. ”
“well, that’s because it comes with a time limit – the navigenics web - site says your $ 500 buys you “ [ a ] ccess to your genetic test results for an entire year. wow, guys, you get to look at a tiny fraction of your own genome for an entire year before your access gets revoked! ”
california' s move follows a crackdown on online gene testing firms by the state of new york, which sent warning letters to a number of firms, including 23andme and navigenics. california said its investigation followed a number of consumer complaints .
the consumers were unhappy about the accuracy [ of the tests ] and thought they cost too much ,
a spokeswoman for the department said .
stephan, who was a bio - it world “best practices” winner in 2005, runs one of the largest high - throughput affymetrix genotyping centers in the country. in the video, stephan explains the basic navigenics premise: “you would get on the website and you would order a saliva collection kit. you would then return that to our laboratory, where we would sift through the entire human blueprint you’ve provided to us. ”
venter, the founder of the j. craig venter institute in san diego, ca, and collaborators from that institute and from scripps translational science institute in la jolla, ca, sent the saliva of five individuals–they don’t say whose spit they used–to 23andme and navigenics, two major online dna - testing companies both based in the san francisco bay area. venter’s team then analyzed and compared the results to see if the sites provided consistent information .
one controversy is that some gene testing web sites take orders directly from patients without a doctor' s involvement. (navigenics says it uses a doctor .) california law requires that a licensed physician order any lab tests, including genetic tests, says karen nickel, chief of laboratory field services for the california department of public health. all lab tests must also be validated for accuracy and medical utility, according to state requirements, nickel says .
navigenics and 23andme attracted the most focus of the companies receiving the letters. both are based in california’s silicon valley and both offer services, costing from $ 1, 000 to $ 2, 500, that scan a person’s whole genome, providing a variety of information about the risk of various diseases. google is a backer of 23andme, and one of the company’s founders, anne wojcicki, is married to a google co - founder, sergey brin .
the venter study notes that, in some cases, companies define the average population disease risk differently. “navigenics distinguishes population disease risk between men and women (for example, men are more likely to have heart attacks than women), whereas 23andme primarily takes into account age (for example, incidence of rheumatoid arthritis increases with age), ” the authors write. “this ambiguity in the definition of a ‘population’ underscores the caution one must exercise when interpreting absolute risk results. ”
now, i agree with steve murphy about a lot of things, but i totally diverge from him on this. having been tested by both 23andme and navigenics, i can say that, yes, it' s complicated. but frankly i don' t need a doctor, and i don' t want a doctor, to facilitate my understanding of what my dna means. yes, there are some medical implications, but these are hardly live - or - die moments .
as the years pass, it' s only natural to start worrying about how your health may change. but until recently, we' ve only been able to gauge what the future may bring by looking at our current health and family history. enter navigenics, a silicon valley - based personal genetics company dedicated to helping you understand your genetic dispositions to 28 common conditions, from alzheimers to breast cancer, so that you' re able to take preventative measures to ensure a long, healthy life .
as for downloading your data off - line: sure, you can do it, but it’s worth noting that navigenics actively discourages this (at least for their snp chip package). their view seems to be that too much knowledge could be scary or dangerous for ignorant consumers; well, that, and they don’t want you taking your raw data off to be analysed by a third party. it’s a deeply regressive, paternalistic approach compared to the “knowledge is power” perspective advocated by both 23andme and decodeme .
the results of our study are consistent with those found by heald et al. , 14 which reported poor concordance between risk assessment methods for three conditions tested in navigenics pgt (breast cancer, prostate cancer, and colon cancer). we expand on their work by analyzing more conditions included in the pgt panel and in a larger sample of individuals. the finding that overall these risk estimates do not agree for most conditions tested implies that these two risk assessment methods may not provide equivalent risk information for most individuals .
in contrast to our findings, bloss et al. 13 reported association between navigenics pgt risk estimates and family history for a subset of five conditions. two of these five conditions (type 2 diabetes and graves disease) were included in our analysis and were found to show poor concordance between pgt and family history risk estimates. differences between our findings are likely explained by a significantly lower prevalence of family history reports in our cohort and a difference in sample size, as well as different statistical methodologies used to assess association and concordance .
the agreement between family history and navigenics pgt risk assessment is shown in figure 1a, b and table 2. overall, the two methods of risk assessment had poor concordance, as shown by the calculated kappa statistic (κ) values. there were no conditions for either males or females that showed more than slight agreement between risk assessments (i. e. , had a κ value > 0. 20; table 1), aside from deep vein thrombosis in females (κ = 0. 201). similarly, when combining males and females into a single sample for the 18 conditions that overlapped between the sexes, there were no conditions that showed significant agreement between risk assessment methods (see supplementary table s2 online) .
to me, this reflects as much a cultural disagreement as a legal or regulatory one. that is, there is the assumption in the states' letters that, because genetic information has medical implications, the dissemination of this information must fall under their jurisdiction .
but there are, in fact, all sorts of areas in life that have medical implications that we don' t consider the province of government – a pregnancy test, most obviously. we neither want nor assume that doctors should have a gatekeeper role in establishing whether we are or are not pregnant, nor do we look to the state to protect us from that information. pregnancy is a part of life, and it has all sorts of implications and ramifications. so too with dna .
what' s more, when i have shared my results with physicians, they' re largely greeted with a shrug. i don' t want to
trust
a doctor, no matter how skilled or well trained, i want the access to my genetic data just as i want to know, without government approval or physician filtering, all sorts of information about myself .
this is * my * data, not a doctor' s. please, send in your regulators when a doctor needs to cut me open, or even draw my blood. regulation should protect me from bodily harm and injury, not from information that' s mine to begin with .
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california becomes the second big state to crack down on companies that offer gene tests to consumers via the web. this week, the state health department sent cease - and - desist letters to 13 such firms, ordering them to immediately stop offering genetic tests to state residents .
both companies use dna chips to scan a person' s genome for gene variants that can be used to predict increased risk of developing a wide variety of diseases. decode genetics of iceland offers a similar consumer test .
these businesses are apparently operating without a clinical laboratory license in california. the genetic tests have not been validated for clinical utility and accuracy ,
says nickel .
and they are scaring a lot of people to death .
requiring that such tests demonstrate clinical
utility
could pose a particular problem if applied to 23andme: the company has admitted its tests are not medically useful, as they represent preliminary findings, and so are merely for educational purposes .
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residents of new york state who want to send saliva for dna testing by 23andme should do their spitting outside state lines .
the state’s health department considers 23andme’s genome scan to be a medical test that must be approved by regulators and ordered by a doctor .
mr. vanier, who in january became the company’s third chief executive, himself symbolizes that trend. he is a physician who still moonlights in the emergency room of stanford university medical center. the company’s first chief executive had a background in consumer internet businesses and the second was a former health insurance executive .
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meanwhile, 23andme continues to define itself primarily as a consumer - oriented company. it offers not only health - related information, but also ancestry data and some fun facts with little medical impact — like whether a person has the gene for wet or dry ear wax .
“our core strength is communicating with consumers, ” said esther dyson, a director of 23andme .
ms. dyson called it “appallingly paternalistic, ” to think consumers could not interpret genetic information without help of a doctor. “people can understand statistics about baseball, ” she said, “and i think they ought to understand statistics about genetics. ”
with the headline: is a dna scan a medical test or just informational? views differ .
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university of adelaide researchers suggest that line - 1 transposable elements may have driven the spit between therian mammals and monotremes .
a startup company is trying a different approach to dna - based data storage, digital trends reports .
buzzfeed news reports on the case of a young girl who inherited most of her genes from just her father .
in plos this week: genetics early flowering adaptations, genetic diversity and population structure of sandflies in the americas, and more .
this webinar will discuss a project that is analyzing the “human brainome” – genome, transcriptome, proteome, and phenome interaction data - - to gain insights into alzheimer’s disease pathogenesis .
this online seminar will discuss the advantages of incorporating molecular testing into the microbiology laboratory to aid in the identification of relevant antibiotic resistance mechanisms .
in this two - part webinar, dr. elin gray, from edith cowan university, and ms. weiwei zhao, from kingmed diagnostic, will compare the highly sensitive, multiplexed ultraseek technology, on the massarray system, to digital droplet pcr (ddpcr) results on melanoma and non - small cell lung carcinoma samples .
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the company was co - founded by dietrich stephan, director of the neurogenomics division of the translational genome research institute (tgen) in phoenix, ariz. , and david agus, director of the spielberg family center for applied proteomics at cedars - sinai medical center in los angeles, calif .
says fodor: “i think there’s an opportunity for modern genetics to move outside the laboratory and move directly to consumers. ” he adds, “the clinical information that comes back to the consumer is presented in a way so that the confusion is removed. ”
vice president of engineering kamal nabijee dietrich stephan was previously the group program manager for apple’s online store, and before that directed applied biosystems’ ecommerce program. general counsel stephen moore was formerly with affymetrix, while vice president of editorial david ansley was formerly science editor at consumer reports .
the company has assembled a task force of experts to guide its practices in ethics, policy, law and security. they include greg simon, president of fastercures and a former advisor to vice president al gore, to advise on patient rights; and david brailer, the former czar of health information technology. as recently reported in bio - it world, consumer genomics start - up 23andme recently reached an agreement with affymetrix rival illumina .
in other words, they’re not following 23andme’s lead in the sense of dropping the cost of their flagship genome scan product, which remains as laughably over - priced as ever. instead, they’re offering a stripped - down version of their test, targeting common variants associated with just ten diseases, apparently using targeted genotyping assays rather than a genome - wide snp chip scan .
i just don’t understand how anyone could possibly see this as an attractive alternative to 23andme’s ($ 100 cheaper) full genome scan – but i suppose it will be interesting to see what proportion of their target audience disagrees with me .
daniel – i was just about to sit down and write this very post! i still can’t believe they used the sentence “access to your genetic test results for an entire year. ” anything would have been better than that (like “access to your genetic test results for one year” or “access to your genetic test results while enrolled in annual insight. ”) it seems that they are unaware of the discussion / criticism surrounding their service or aren’t concerned with it .
i don’t understand your issue with this. the time limit is really irrelevant since once you get your test results in your account, you can save that info in your computer / print it out. its not going to change with time .
daniel, this is precisely the market they should have been targeting from the beginning…. .
i have no clue what kpbc was smoking when they told them that was the right price point…. .
the true winners in this genome space will be those who have a distribution platform for medical tests or a platform for novelty tests…. . the 2 shall never meet…. . which is why i predict 23andme will go straight to novelty this year… .
if not, the fed is likely to put the squeeze on them…. . regardless of schmidt and the inauguration gifts… .
the marketplace for genetic testing is basically an uneducated one (with the exception of people who are really excited about it) .
so, they realized that to keep an uneducated customer happy while contemplating medically related information, they were going to need to make it easy for that person to pick up the phone and talk to an “expert” .
that’s what they got right. personalized genetic testing is not about the test, which is a commodity, or the “report” which is useless to most doctors, mothers, etc. , but the information, which is currently best conveyed through a person who can answer questions. and people cost a lot of money, thus the ridiculously high price .
personalized genetic testing is about people getting attention they feel they need or want enough to pay for it, because they can’t get it from their pcp anymore on their insurance co. ’s dime .
any company that can capitalize on that (regardless of whether the test is clinically useful or just hand waving) will have a market .
the writer traced the experiences of a new silicone valley millionaire who had sold his interest for a few million. this fellow had contracted with a physician in denver who was also a research scientist in dietetics and longevity .
the md took the guy’s dna info and made a prescriptive supplement program plus a killer 4 hour per day exercise regimen. the doc mentioned something about a guarantee his patient would live to be a hundred! he didn’t say who would be the beneficiary .
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craig venter and colleagues compare consumer genetic tests and suggest ways to make them more useful .
geneticist craig venter and colleagues have tested two of the leading consumer genomics services and declared the fledgling industry to be promising, but still very early in terms of how useful the information might be .
the team compared the five sets of dna results for the risk of developing 13 diseases, including colon cancer, lupus, type 2 diabetes, and restless leg syndrome .
the results are published today in a commentary in the journal nature, along with suggestions on how to improve genetic testing as a direct - to - consumer product .
venter’s group found that the raw genetic sequencing data supplied by each company was almost 100 percent consistent. that is, for the 500, 000 to 1 million genetic markers tested for each person, the as, cs, ts, and gs were almost exactly the same .
how the genetic testing sites interpreted the data was less consistent. each used studies in the scientific literature that have scanned human populations for dna markers associated with risk factors in order to predict whether a person will succumb to a particular disease. a person might have, say, a 30 percent increased risk for type 2 diabetes if they have a particular version of the relevant genetic marker .
the differences arise for two main reasons: because different companies sometimes use different markers, and combinations of markers, to determine an overall risk score for a disease, and because the algorithms the sites use differ in how they weigh the risk factors for different genetic markers .
the venter study makes several recommendations for direct - to - consumer genetic testing companies. these include a greater focus on the genetic variations that have a high impact on disease risk and a call to use more markers that provide information on risk factors for taking medications, such as the blood - thinner warfarin and cholesterol - lowering statins. (23andme does provide a marker that can indicate a risk of side effects for warfarin .) the researchers also suggest that sites better explain how their markers fit into the overall impact of genes on a disease (for example, whether a given marker represents 5 percent, 20 percent, or 100 percent of the genetic impact on a disease) .
recommendations to the genetics community include conducting clinical studies to validate genetic markers for disease and for behavioral traits in actual patients tracked over time, and giving more attention to non - caucasian ethnicities .
“we plan on working with 23andme to codevelop standards for the field, ” agus adds. this is a voluntary effort that so far has faltered. 23andme science and policy liaison andro hsu says there might be a need for a neutral third party that creates standards–he suggested the centers for disease control. others have talked about the food and drug administration, or even the national institute of standards and technology .
what venter and company didn’t mention is the word “regulation”–which is likely to happen in some form if the industry is to ensure that information is accurate and consistent. the nature commentary also doesn’t call for an aggressive and comprehensive effort to validate genetic tests by running studies in the clinic to see which of these markers really do predict disease–a project that may be needed to accelerate the day when these tests become more medically useful for individuals .
just two years ago, it cost $ 1 million to sequence an entire genome; now the price is rapidly dropping to under $ 50, 000, and may be as little as $ 5, 000 by next year .
“once we have at least 10, 000 human genomes and the complete phenotype [ disease profiles ] with these genomes, we will be able to make correlations that are impossible to do at the present time, ” says venter. “at that stage, genetic testing will be a good investment for private companies and the government. ”
david ewing duncan is a journalist and best - selling author of nine books. he is curator of
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personal genome testing allows the identification of single - nucleotide polymorphisms associated with an increased risk for common complex disorders. an area of concern in the use of personal genome testing is how risk estimates generated differ from traditional measures of risk (e. g. , family history analysis). we sought to analyze the concordance of risk estimates generated by family history analysis and by personal genome testing .
the only conditions showing slight agreement between risk assessment methods were alzheimer disease (κ = 0. 131), breast cancer (κ = 0. 154), and deep vein thrombosis (κ = 0. 201) in females, and colon cancer (κ = 0. 124) in males. eighty - six individuals (11. 4 %) were found to have additional genetic risks not assessed by personal genome testing after family and medical history assessment, including 38 individuals with family histories suggestive of hereditary cancer syndromes .
discordance between personal genome testing and family history risk estimates suggests that these methods may provide independent information that could be used in a complementary manner. results also support that eliciting family history adds value to overall risk assessment for individuals undergoing personal genome testing .
the medical history of each client, as collected by the genetic counselor, was reviewed, and the total number of individuals affected by any of the 20 conditions was recorded. the maternal and paternal family history for each client was reviewed, and any family members affected with any of the 20 conditions were noted .
on the basis of family history assessment, individual lifetime risk for each condition was classified into two categories: “greater than general population” risk, or “general population” risk. “greater than general population” risk categorization was defined according to the presence of a positive family history: either one affected first - degree relative or multiple affected relatives (two or more first - degree relatives, and / or two or more second - degree relatives on the same side of the family). lack of a positive family history of any condition resulted in classification of individuals as at “general population” risk .
information was collected regarding additional genetic risks identified during family and medical history assessments, as well as pursuit of genetic testing outside of pgt as recommended based on these risks, if known. such genetic risks were defined by a reported family history of a specific genetic syndrome or a family / medical history suggestive of a genetic syndrome (e. g. , hereditary cancer syndromes) .
concordance between family history and personal genome testing risk assessments in (a) males and (b) females. error bars represent 95% confidence interval. κ values as listed in table 2. conditions showing slight concordance are displayed in bold; all other conditions analyzed had poor concordance .
for males, 18 of 19 conditions analyzed had κ values whose 95% confidence intervals (cis) crossed zero (table 2), indicating poor agreement between risk assessment methods, similar to what would be expected by chance. colon cancer was the sole condition for males for which there was slight agreement. pgt and family history assessment agreed on risk categorization for colon cancer 79. 7% of the time; however, the agreement between the measures was only modest (κ = 0. 124; 95% ci = 0. 0165–0. 232). fifty - three men (11. 2% of total men) had a family history of colon cancer; only 15 of these individuals (28. 0 %), however, were categorized as having higher risk by pgt .
similarly, for females, 16 of 19 conditions had κ values whose 95% ci crossed zero (table 2), suggesting poor agreement between pgt and family history. the three conditions for which there was a slight agreement above that expected by chance, in ascending order, were alzheimer disease (κ = 0. 131; 95% ci = 0. 0206–0. 241), breast cancer (κ = 0. 154; 95% ci = 0. 0185–0. 289), and deep vein thrombosis (κ = 0. 201; 95% ci = 0. 00380–0. 399). overall, pgt and family history assessment agreed on risk categorization for these conditions 75. 4, 76. 5, and 91. 2% of the time, respectively. nineteen women had a family history of alzheimer disease, and 10 of these women (52. 6 %) were categorized as having high risk by pgt. of the 49 women with a family history of breast cancer, 14 (28. 6 %) were categorized as having high risk by pgt. only 11 women in this study had a family history of deep vein thrombosis, and 7 of these women (63. 6 %) were classified as either having general population risk / less than general population risk by pgt (data not shown) .
the number of individuals with a personal medical history of the conditions included was not large enough to analyze the concordance of personal medical history and pgt risks. for 12 of the 19 conditions in each sex, there were fewer than 10 individuals with a personal medical history of these conditions (data not shown) .
additional genetic testing pursued and potential genetic risks identified. (a) proportion of individuals who had genetic testing outside of pgt after additional genetic risks were identified. (b) family history assessment identifies individuals at risk for hereditary cancer syndromes. of individuals found to have additional genetic risks, a breakdown of risks for specific syndromes identified by genetic counselors is shown. details regarding the risks identified in the “other risks” category and genetic testing pursued are available in supplementary table s3 online .
of females whose family histories were suggestive of hereditary breast and ovarian cancer (with a lifetime risk to develop breast cancer likely to be higher than the general population) and males and females whose family histories were suggestive of lynch syndrome (with a potentially higher lifetime risk of developing colon cancer), the majority were categorized as general population or lower risk of developing breast and colon cancers, respectively, by pgt (table 3) .
much of the concern regarding pgt lies in a lack of proven clinical utility, validity, and predictive value. 2, 3 this is, in part, related to the longitudinal nature of the data needed to determine pgt validity and the subsequent translational research necessary to provide evidence of clinical utility. our study represents one of the first and largest studies evaluating the concordance between pgt and family history risk assessments for complex disorders and provides novel data with implications for the validity and usage of pgt .
the two methods of risk assessment are inherently different, in that pgt does not take into account environmental factors, which can be shared by members of the same family and thus are partially encompassed in empiric recurrence risks generated for multifactorial disorders. this significant contributor to the development of complex diseases could account for some of the differences in risk estimate categorizations .
tables of direct - to - consumer genetic testing companies and conditions tested. 2011
a formal risk - benefit framework for genomic tests: facilitating the appropriate translation of genomics into clinical practice .
inherited genetic markers discovered to date are able to identify a significant number of men at considerably elevated risk for prostate cancer .
family history: a comprehensive genetic risk assessment method for the chronic conditions of adulthood .
family history in public health practice: a genomic tool for disease prevention and health promotion .
association of direct - to - consumer genome - wide disease risk estimates and self - reported disease .
prospective comparison of family medical history with personal genome screening for risk assessment of common cancers .
standardized human pedigree nomenclature: update and assessment of the recommendations of the national society of genetic counselors .
genetic variations of prostate stem cell antigen (psca) contribute to the risk of gastric cancer for eastern asians: a meta - analysis based on 16792 individuals .
the current landscape for direct - to - consumer genetic testing: legal, ethical, and policy issues .
genetic susceptibility testing versus family history - based risk assessment: impact on perceived risk of alzheimer disease .
accuracy of self - reported family history is strongly influenced by the accuracy of self - reported personal health status of relatives .
this study was supported by the msc in genetic counselling education fund of the university of toronto .
l. a. acknowledges that she had full access to all the data in the study and takes responsibility for the integrity of the data, the accuracy of the data analysis, and the decision to submit for publication .
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navigenics , inc. was a privately held personal genomics company , based in foster city , california , that used genetic testing to help people determine their individual risk for dozens of health conditions . 
navigenics, inc. was a privately held personal genomics company, based in foster city, california, that used genetic testing to help people determine their individual risk for dozens of health conditions.
navigenics, inc. was a privately held personal genomics company, based in foster city, california, that used genetic testing to help people determine their individual risk for dozens of health conditions.