DNA analysis for disease risk isn’t catching on among consumers

Connected to Google by both love and money, 23andMe seems the epitome of a 21st-century company — a cutting-edge merging of biotechnology and the Internet, with a dash of celebrity thrown in.

The scarce ingredient so far is customers.

23andMe is the most prominent of a trio of companies that in 2007 began using the Web to market personal genomics services. The companies scan people’s DNA, promising to tell them their risks of getting dozens of diseases. Propelled by its co-founder Anne Wojcicki, the wife of Google’s billionaire co-founder Sergey Brin, 23andMe attracted attention by holding swanky “spit parties” where people gave saliva samples for DNA analysis. Rich and famous people like Rupert Murdoch, Harvey Weinstein and Ivanka Trump became customers and in some cases investors.

But for the common consumer, 23andMe’s service — and those from its main competitors, Navigenics and DeCode Genetics — have been a much harder sell. Two and a half years after beginning its service, 23andMe has only 35,000 customers. And at least one quarter of them got the service free or for only $25, instead of the hundreds of dollars on which the business model is based. Navigenics and DeCode have even fewer customers.

The low turnout suggest that many people have not yet embraced the genomics age. It does not help, either, that the services cost $300 to $2,000 and have been trying to catch on during a severe recession.

But the services face an even more fundamental problem: In most cases, the current level of DNA scanning technology and science is unable to offer meaningful predictions about the risk that a person will get a disease.

“It is a really wonderful form of recreation,” said Scott R. Diehl, a geneticist at the University of Medicine and Dentistry of New Jersey. But as for applying it to health care, he said, “It’s very premature.”

The companies have been forced to adjust. Named for the 23 pairs of human chromosomes, 23andMe went through two rounds of layoffs last year. The company, which is privately held and based in Mountain View, Calif., has fewer than 40 employees, down from a peak of about 70. Navigenics, based in Foster City, Calif., is on its third chief executive in a year and has also trimmed its workforce. It is now marketing to doctors and corporate wellness programs rather than consumers.

People close to the company estimate that Navigenics has about 20,000 customers, at least 5,000 of whom were given big discounts to be in a study.

And DeCode Genetics, based in Iceland, passed through bankruptcy following heavy spending to develop drugs and diagnostic tests. The DecodeMe personal genomics service, while only one part of the company’s business, apparently attracted fewer than 10,000 customers.

Genomes of identical twins reveal epigenetic changes that may play role in lupus

Identical twins look the same and are nearly genetically identical, but environmental factors and the resulting cellular changes could cause disease in one sibling and not the other.

In a study published online in Genome Research (www.genome.org), scientists have studied twins discordant for the autoimmune disease lupus, mapping DNA modifications across the genome and shedding light on epigenetic changes that may play a role in the disease.Because the genetic makeup of monozygotic twins (commonly known as identical twins) is nearly identical, phenotypic traits and heritable diseases are often concordant, manifesting in both siblings.

However, some phenotypes and diseases such as autoimmune disease can arise in only one sibling, suggesting other factors such as environment likely play a role in determining phenotypic differences.Epigenetic modifications, cellular changes that can influence expression of genes, are now widely recognized to influence phenotype and frequently occur in disease. Furthermore, environmental factors such as diet and chemical exposure can change the epigenetic status of genes.

Recent research has identified epigenetic modifications at several aberrantly regulated genes in autoimmune diseases such as systemic lupus erythematosus (SLE), and other studies have suggested that epigenetic differences are associated with phenotypic discordance between identical twins. In this work, researchers from Spain and the United States performed the first genome-wide high-throughput analysis of a specific epigenetic modification, DNA methylation, in the context of autoimmune disease. Taking advantage of the identical genetic background in monozygotic twins, the group directly compared DNA methylation in healthy twins and twins discordant for autoimmune diseases, including SLE, looking for changes that could be related to pathogenesis in one sibling and not the other.n the case of SLE, the group found widespread changes in DNA methylation status at a significant number of genes.

Dr. Esteban Ballestar, senior author of the study, noted that this is the largest number of genes exhibiting DNA methylation changes observed in an autoimmune disease to date, and includes genes previously implicated in SLE pathogenesis. Importantly, Ballestar's team found that a significant number of the novel differentially methylated genes are related to multiple immune system functions and are potentially linked to SLE."Our study suggests that the effect of the environment or differences in lifestyle may leave a molecular mark in key genes for immune function that contributes to the differential onset of the disease in twins," Ballestar said. Most studies of DNA methylation and human disease have been in the context of cancer research, Ballestar noted, and he hopes that this work will attract more researchers to also investigate DNA methylation alterations in autoimmune disease and other disorders for the development of therapies.

Lupus is a chronic inflammatory disease that can affect various parts of the body, especially the skin, joints, blood, and kidneys.

Learning of Risk of Alzheimer’s Seems to Do No Harm

A genetic test that can find an increased risk of Alzheimer’s diseasedoes no psychological harm to people who take it, even if they test positive for a risky gene, a new study finds.

The results challenge views long held by the medical establishment, which has discouraged people from being tested, arguing that the test is not definitive, that it may needlessly frighten people into thinking a terrible disease is hanging over them and that testing is pointless anyway because there is no way to cure or prevent the dementiacaused by Alzheimer’s.

Follow the lonk and read the full article.

Jumping On Genetic Testing: The War of the SNPs

How many SNPs does it take to provide a definitive disease risk profile? Quite a few, apparently, as companies continue to pile them higher and deeper into genetic tests. Firms have bet that these tests will be widely adopted by physicians and the public to predict everything from risk of lung cancer among smokers, to prostate cancer, to Alzheimer’s disease, to baldness.

All told, about three dozen companies claim that they can provide genetic testing that predicts an individual’s risk of developing almost everything. “There is a bit of a wild wild west going on in terms of some of the DNA testing that’s out there,” said Francis S. Collins, M.D., Ph.D., the newly appointed NIH head, in an interview with CBS News in September 2008 with regard to a new offering from Smart Genetics purporting to predict susceptibility to Alzheimer’s disease (AD).

“Some of it is done by reputable companies, but there are some that are even unscrupulous who will offer you tests or DNA variations that, frankly, you’re not sure what they mean at all.” Smart Genetics stopped offering its controversial Alzheimer’s Mirror genetic test just eight months after introducing it, and the company subsequently shut its doors.

(Genetic Engineering & Biotechnology News)

Get Your Entire Genome From Complete Genomics For $5000

It’s getting progressively cheaper to sequence your entire genome. Earlier in June, Illuminaannounced it would provide sequencing for close to $50k, half of their original price. Not to be outdone, Complete Genomics just released on Monday that it had gathered $45 million dollars in funding. The Silicon Valley based company is planning to use that money to further develop their streamline sequencing operations so that they can offer a complete genome for just $5000 by next year. CG’s goal is to finish 10,000 sequences by years end 2010. Even though that’s later than we had hoped, it’s still a whole lot of DNA and at the cheapest price for a whole genome seen so far. The question is, can they really pull it off?

We’ve been looking for a company, any company really, to break the $1000 price mark for a complete genome sequencing sometime in the next few years. That’s about the point where retail sales of the service will explode. With their exponentially decreasing price tag, Complete Genomics might be on that path. However, we know of at least one company that is trying to reach that goal by the end of this year. Stay tuned for that story in the next few weeks.

If you’ve never heard of Complete Genomics, read our first and second story to catch up. Basically they use a common form of short read sequencing and throw in a ton of computer power to sequence a human genome. Interest in personal genomics is escalating as genetic links to diseases are discovered. 23andMe already offers some testing for such diseases and is hoping to gather samples for further clinical trials. By providing the entire genome for perusal on the cheap, CG could make it economically feasible to expand that research into many more illnesses. Already, we’ve shown you how some facilities are erroneously promising to predict a child’s aptitudebased on genetic sampling. Perhaps with the cheap sequencing CG could provide, scientific research will match pace with the growing demand for such testing.

Daniel MacArthur of Genetic Future was able to pry CG head Cliff Reid to provide some details in how they hope to achieve their goals. First, Reid disclosed that the test won’t be offered directly to consumers, but rather through retail providers such as Knome and 23andMe. That means the price you or I will see could be considerably higher than $5k. Whatever the retail price, Reid promises 120 billion base pairs sequenced, 98% of the genome, with just one error in 10,000. That’s considerably better stats than what CG offered in February (92% of genome, about one error in 1,000).

Between now and year’s end 2009, Complete Genomics will focus on its dozens of customers currently in the line up. These include the Broad Institute out of MIT and Harvard which announced it was purchasing at least 5 genomes from CG in March. The Broad Institute reportedly paid $20k for each of their genomes which might be taken as the current baseline price for CG customers. If so, that’s a factor of four that the company has to make up between now and next year.

But scaling is no problem for genome sequencing. Remember that it took 15 years to sequence the first human genome, but the next 6 were done in 24 months. Now we’re talking about doing thousands a year. That’s just nuts and one of the amazing parts about sequencing that I love. Exponential growth is sexy science. And it’s supposed to be one of CG’s strengths. They just finished their first genome in the summer of 2008, and are now on schedule to finish 100 by the end of 2009. Current estimates of finishing 1000 by mid 2010, and 9000 more by the end of that year fit within the exponential growth curve. As MacArthur points out, most of these sequencing services will likely be purchased by researchers in genomic and cancer studies. So the demand is also there.

How can CG scale so quickly? By remaining inflexible but efficient. Their process doesn’t rely on making huge improvements in sequencing technology. Or finding a new sequencing technique. It comes down to streamlining the process. Stick to one task, human genome sequencing, miniaturize whenever possible, fewer reagents means lower costs, and build build build. You can bet a huge portion of that $45 million is going to expanding their facilities in Mountain View.

Who provides the cheap genomes is probably less important than the change it will create. While scientific research will undoubtedly benefit first, the public at large will likely become a dominant consumer. Genetic information is on the journey to becoming one of the most important sets of data someone can know about themselves, with insights into disease, aptitudes, and longevity. Give us the chance for cheap access to that info and you’ll never run out of customers. Just a little while longer, it’s bound to happen.

Weight Loss 2.0: Webicina Web Guidance Package

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New database for gene variations will help diagnosticians

Genetics researchers have unveiled a reference standard of deletions and duplications of DNA found in the human genome. Drawn from over 2,000 healthy persons, the study provides one of the deepest and broadest sets of copy number variations (CNVs) available to date, along with a new research tool for diagnosing and identifying genetic problems in patients.

A team from The Children's Hospital of Philadelphia published its high-resolution map and analysis of CNVs in the human genome in the July 10 online edition of the journal Genome Research.

In contrast to single base alterations of DNA, which are single nucleotide polymorphisms, or SNPs, often referred to as "snips," CNVs are larger variations in DNA structure. As changes to a single DNA letter, SNPs might be considered misspellings or alternate spellings of a word, while CNVs are losses of whole phrases, paragraphs or even pages (deletions), or are repeated sections (duplications). Some CNVs are inserted stretches of DNA from other parts of the genome. Both SNPs and CNVs contribute to genetic diversity and disease by changing the action of genes for which DNA carries coded instructions.

"We all carry a number of these variations in our own genomes," said study co-leader Peter S. White, Ph.D., a molecular geneticist and director of the Center for Biomedical Informatics at Children's Hospital. "Some CNVs contribute to a disorder, but most of them do not, and it is often challenging to determine which are important. One approach is to compare CNVs in healthy individuals to those in patients with a disease, to find those CNVs that seem to occur primarily in people with a certain disease. Our map provides a large and uniform baseline standard to indicate which CNVs represent normal variation."

The investigators analyzed DNA from blood samples taken from 2,026 subjects. The subjects were healthy children and their parents, all of them drawn from primary care and well-child clinics in the Children's Hospital health care network. Of the samples, 65 percent were from Caucasians and 34 percent from African Americans.

The CNV map has a higher resolution than most previous efforts, say the authors, with over 50,000 CNVs cataloged throughout the genome. Three-quarters of these were "non-unique," occurring in multiple unrelated individuals. A majority (51.5 percent) of these non-unique CNVs were newly discovered. On average, the healthy subjects in the study have approximately 27 CNVs each.

The researchers have posted the full CNV database on the Hospital's website, where it is freely available to gene researchers worldwide. The web browser also enables researchers to compare specific CNVs to those collected in public data repositories from other institutions.

"This resource will be very important in enabling rapid and accurate diagnoses of rare diseases resulting from CNVs," said lead author Tamim H. Shaikh, Ph.D., a molecular geneticist at Children's Hospital. These genetic diseases may be individually rare, but collectively occur at frequencies comparable to disorders such as Down syndrome. "In order to pinpoint the one CNV that is the cause of a disease, it is critical to quickly eliminate those that are part of the spectrum of normal variation that exists in the human genome. That's what this CNV data and other similar resources allow us to do," Shaikh added.

The authors went on to analyze DNA from a child with multiple congenital problems, including developmental delay and brain malformations. They found 35 CNVs, of which 32 were previously detected in healthy controls. Two of the patient's three unique CNVs were relatively small in size, but the third CNV was a deletion in chromosome 17 that encompassed 51 genes, including several that are active in early prenatal development. Unlike most of the other CNVs, it did not occur in the child's parents, strongly supporting the conclusion that the chromosome deletion arose spontaneously in the patient and that it caused the child's disease.

To detect CNVs in the thousands of samples, the investigators used automated gene-analyzing technology at the Center for Applied Genomics at Children's Hospital, directed by Hakon Hakonarson, M.D., Ph.D., a co-leader of this study. "Although these CNVs were detected in healthy children, they may have significant disease implications that may not manifest until later in life," said Hakonarson. Hakonarson and colleagues earlier published studies of CNVs in autistic spectrum disorders and attention-deficit hyperactivity disorder. Both studies found CNVs in gene regions involved in neurological development during early childhood.

The new database has another strength, added Shaikh. Because it analyzed large numbers of samples from both Caucasians and African Americans, it measured CNV levels that differ between the two ethnic groups, and enables clinicians to make more precise diagnoses. Shaikh added that the researchers expect to expand the database with larger sample sizes and data from additional ethnic populations.

In addition to its use in diagnosis, said White, the database may also assist researchers studying molecular evolution. For example, those investigating how genetic variations occurred as human populations spread across continents.

Source: Children's Hospital of Philadelphia

Start-Ups Bring Genetic Tests To The Home

By Brian Gormley

What’s in your DNA? Venture capitalists believe you’ll pay to find out.

A few venture firms are funding start-ups that promise to offer consumers insight into what their DNA says about ancestry or disease risks. While most of these services don’t diagnose disease, they say they can spot warning signs.

The latest company seeking to help consumers decode their genetic risk for disease isPathway Genomics Corp., which recently introduced its service to take on venture-funded companies such as Navigenics Inc. and 23andMe Inc., as well as publicly traded companies like deCODE Genetics Inc.

Pathway, based in San Diego, formed in 2008 and closed its most recent venture round in June, though it is not disclosing how much it raised. Investors include technology firm Founders Fund, Western Technology Investment, and Harry Edelson, who has funded several health care and technology companies through Edelson Technology Partners. Navigenics backers include Kleiner Perkins Caufield & Byers, while 23andMe has raised capital from New Enterprise Associates, Genentech Inc. and others.

Pathway Genomics will charge $249 for a service that provides consumers with their genetic risk to more than 90 health conditions by analyzing their genome for genetic markers. Consumers also can order an ancestry test for $199, or both services for $348.

Consumers can learn their genetic risk for several cancers, including those of the prostate and breast, cardiovascular diseases, rheumatoid arthritis, Type 1 and Type 2 diabetes, and many other diseases.

Its prices are in the range of what others charge: 23andMe offers a service that provides disease risk and ancestral information for $399, for example. Pathway Genomics performs its services at its own research lab, so customers’ DNA - taken from saliva samples that they send in after ordering a test from Pathway’s Web site - never leaves the company’s grounds. Its lab has State of California and Clinical Laboratory Improvement Amendments certifications.

For an additional fee, Pathway Genomics customers can also gain access to genetic counselors. The company hasn’t disclosed what it will charge for these services, but James Plante, founder and CEO, said the fees will only cover its expenses and won’t be a moneymaker.

“We think it’s an important service to have available. We don’t anticipate it being a profit center,” Plante said.

Improved understanding of how genetic variations influence health has combined with technological innovation to make such services possible. But since health insurers aren’t covering these offerings - at least not yet - anyone wanting these services will have to pay up for them. It’s as yet unclear how many people will do so.

Overweight Parents, Overweight Children

Seems like I’m stating the obvious, doesn’t it? Of course parents have a huge impact on whether their children become overweight. They buy whatever food is in the home and model eating habits. These preferences, however, are most likely partly genetic and partly behavioral.In David Kessler’s new book, The End of Overeating, he discusses how serotonin and dopamine work to increase our cravings and appetite. Both genes and conditioning contribute to the levels of these neurotransmitters in our brain.The interaction between genes and behavior is difficult to tease apart. A recent study has found that the behaviors of obese parents may be more to blame than the genes they’ve passed on to their children.The EarlyBird Diabetes Study looked at 226 British families and found that :Obese mothers are 10 times more likely to have obese daughtersObese fathers are 6 times more likely to have obese sonsThere is no association between obese mothers and obese sons, obese fathers and obese daughtersThe Study’s Director, Professor Terry Wilkin said:Any genetic link between obese parents and their children would be indiscriminate of gender. The clearly defined gender-assortative pattern which our research has uncovered is an exciting one because it points towards behavioural factors at work in childhood obesity.But don’t count out genetics! What about imprinting? Genomic imprinting results in exactly this sort of pattern in which genes are expressed differently depending on the parent of origin, mother or father.Regardless, there is no question that obesity rates in developed countries have increased tremendously. In The End of of Overeating, Dr. Kessler makes the case that it’s because the food industry knows exactly how to alter food chemistry and layer fat, sugar, and salt to make food super-palatable. So even though our genes may not have changed that much in the last half century, the foods that we have ready access to certainly have. Just think what life must have been like before McDonald’s was founded in 1940!In our family the pattern observed in the study seems to be holding true. My son takes after his svelte father while my daughter tends towards the chubbier side. Considering I am feeding them all, I suggest that genes and how they influence what and how much we eat are still important. That doesn’t excuse my tendency to indulge, though. As with everything to do with parenting, time to reconsider what kind of example I’m setting for my kids.News.com.au, ScienceDaily

Will your genetic source code be open or closed?

The use of genetics in finding cures to diseases, now calledgenomics, may be the key to both your future health and economic growth.

Starting with the sequencing of a virus DNA by Fred Sanger in the 1970s, and extending to the sequencing of the entire human genome in 2001, scientists have been consumed with the task of decoding your genes, the genomes of disease, and manipulating genes to make new medicine.

Most of the work has been done in what computer scientists would call “closed source,” in that genomes are subject to patent rights.

But there have long been efforts to carve out a place for open source in the effort, starting with the donation of the Human Genome Project’s work in the government’s GenBank system. Versions of the H1N1 flu virus are alsobeing submitted to GenBank.

The open source advocates at O’Reilly point out that open source software has also been part of that mix, personifying that effort in David Dooling(above), assistant director for infomatics at the Genome Center in St. Louis. His work uses a lot of open source software.

But there is a larger question, one I want readers to weigh in on.

Where will the most progress come from? Does the path to cure lead through the private ownership of genetic codes, or will we make more progress is genes are part of the open source world?

Our genetic code should be no big secret

We should be less frightened of wider access to our DNA profile — those in the know are offering theirs up for public view

The 1997 movie Gattaca sets out one of the great dystopias of science fiction. Genetic technology has divided humanity. Social class is determined by DNA. The “valids”, with sound genetic profiles, dominate the top jobs and political power. The “in-valids”, with flawed genomes, form a genetic underclass.

The film’s vision highlights a deep concern about the coming genomic age: that as science reveals more about the human genetic code it will not only herald new approaches to medicine but also create new ways to discriminate and invade privacy. Employers might select candidates according to genetic aptitude. Health insurers could refuse cover to people with high-risk genomes. And personal information about our health and personalities might be revealed for all to see.

Such fears have built a consensus that ethical use of genetic information must be founded on strict privacy. If DNA profiles are to improve treatment and prevention of disease without compromising liberty, access must be controlled. They belong to individuals and should not be disclosed without their consent. The prevailing assumption is that we should guard such data closely.

It is far from clear, however, that this assumption is correct. True genetic privacy may be impossible to achieve — and many of the scientists whose work is driving the DNA revolution believe that the costs of trying will outweigh the benefits. Some are even backing their words with action, by publishing their own genetic data on the internet.

The fantasy that it is possible to prevent unauthorised access to a person’s DNA was exposed in March by Peter Aldhous and Michael Reilly, of New Scientist. Aldhous drank from a glass and gave it to Reilly, who used commercial services to extract his colleague’s genetic profile. It is illegal in Britain to test DNA like this without consent. But the process is so cheap and simple, and the chance of detection so slim, that this offers little practical protection. We leave so much DNA wherever we go that we cannot expect to keep it to ourselves. Legislation might be a deterrent, but it will not prevent unauthorised use.

Even if genetic data could be comprehensively protected, it doesn’t automatically follow that it should be. In making a fetish of DNA, we may be limiting its usefulness. If science is to unravel the medical implications of genetic variations between individuals, to personalise and improve healthcare, it will be necessary to compare the DNA sequences of hundreds of thousands of people. A culture of privacy will hold this back while secreting information that may be less sensitive than it seems.

Certainly, the great and the good of human genetics do not feel that they have much to lose by sharing this data. Some are challenging the privacy assumption by example. When the genetics pioneer Craig Venter became the first person to have all six billion DNA letters of his genome sequenced he published the lot. James Watson, the co-discoverer of the double helix, has done likewise, redacting only the status of a gene linked to Alzheimer’s because he did not want to know the information himself. Kari Stefánsson, of deCODE Genetics, which sells personal DNA tests, allows his customers to compare their data with his.

George Church, of Harvard University, has gone a stage further. The founder of the Personal Genome Project (PGP), and its first participant, has published not only his complete genome sequence but also his medical records and other physical details. He aims to recruit 100,000 volunteers to do the same.

The nine other recruits to the PGP’s pilot phase are all people who know their stuff: they include the psychologist Steven Pinker, John Halamka, Dean of Technology at Harvard Medical School, and Misha Angrist, a geneticist at Duke University in North Carolina. Another 13,000 have joined a waiting list to take part. By putting their information in the public domain, participants hope to exploit “crowd-sourcing”, the notion that allowing anyone to work on a problem will lead to it being solved more swiftly. The phenomenon underlies the success of Linux open-source software and Wikipedia. It could soon be driving genetic discoveries as well.

This will have individual benefits as well as social ones. When Church placed his medical records on the internet he was contacted by a doctor who suggested a useful change to his cholesterol medication. Interpretations of open data are more likely to help than harm.

The prophets of open-source genomics are unruffled because the perceived need for absolute secrecy is also based on a misunderstanding of heritability. While most people think of genetics as a deterministic science, this is rarely so. Most genes that influence health have a probabilistic effect, raising or lowering risk by small margins. Most people with the Alzheimer’s risk gene , for example, will not get Alzheimer’s. It would not only be wrong to judge somebody’s intellect, skills or good health by their ownership of particular genetic variations — it would be profoundly misleading.

All of us carry risky variants: there is no such thing as a perfect genome. That should help to prevent discrimination: if insurers were to exclude everyone with a raised genetic risk of this or that they would rapidly go bankrupt. If the market fails, companies can be banned by law from demanding genetic test results; the US has already done this, and the UK has a voluntary moratorium.

Nobody should be forced to reveal genetic data, which should be published only with the informed consent of the owner; the PGP takes the “informed” part so seriously that it requires participants to pass a genetic literacy test. But it is instructive that so many of those who best understand the mechanics of the genome see so little to fear. Given wider understanding of the probabilistic nature of genetics, their choice to go public is one that many more of us could emulate.

NHS not ready to take advantage of breakthroughs in genetic sequencing

The health service is not ready for an impending genetic revolution in medicine and requires urgent reform to turn scientific advances into better patient care, a parliamentary inquiry declares today.

The NHS needs to revamp its provisions for genetic testing, the training of doctors and nurses, and its IT and laboratory services, if understanding of the human genome is to deliver health benefits to its patients, according to a House of Lords report.

Medical advances stemming from the sequencing of the human genetic code are already starting to improve healthcare, and could transform it over the next decade, the influential Lords Science and Technology Committee said. Widespread genetic testing could aid the diagnosis and prevention of disease, and allow doctors to prescribe targeted drugs according to patients’ individual genetic profiles.

This opportunity, however, could easily be missed without significant changes to NHS infrastructure, training and practice, the committee found. It called on ministers to prepare a new White Paper on genomic medicine, to address the challenges ahead. “The use of many types of genomic tests is increasing rapidly, both in the NHS and in tests sold directly to consumers, and the availability of these tests will, in time, have a dramatic impact on disease diagnosis and management,” the report said. “This is already placing strain on the expertise of doctors, nurses and healthcare scientists, who at present are poorly equipped to use genomic tests effectively and to interpret them accurately, indicating the urgent need for much wider education of healthcare professionals and the public in ‘genomic medicine’.

ILMN -Biotech firm Illumina will sequence your entire genetic code -- and throw in a Mac - for $48,000.- Sourced WhisperFromWallStreet.com

Illumina Inc.ILMN Price competition is coming to the rarified world of genome sequencing.
For $48,000, San Diego-based Illumina (ILMN) will sequence your genome -- in other words, your entire genetic code. Until now, the only other company offering personal genome sequencing services is biotech startup Knome. It charges $99,500.

Genome sequencing can alert individuals if they have inherited genes that cause illnesses like diabetes, Alzheimer's or cancer. Using the information as a guide, people could alter their lifestyles in an attempt to dodge potentially latent diseases. They also could find out the probability of passing along a genetic disease like cystic fibrosis to their children, or uncover interesting details about their ancestry.

Illumina is tossing in an iMac computer loaded with a customer's genetic data to round out the deal. But spending nearly $50K on a genetic code will not fit most people's budgets, even though that pricetag is hundreds of millions of dollars cheaper than sequencing the first human genome in 2003. Illumina says it expects just tens, perhaps hundreds, of people to sign up for the service within the next year.

About
Illumina, Inc. engages in the development, manufacture, and marketing of integrated systems for the analysis of genetic variation and biological function. Its instrumentation products include Genome Analyzer II, an instrument for high-throughput sequencing using Illumina sequencing by synthesis technology; iScan System, a high-resolution imaging instrument to scan BeadArray based assays; and BeadXpress Reader, a low- to mid-multiplex, high-throughput instrument for readout of assays. The company?s consumables comprise Standard Sequencing Kit, a reagent used for sequencing by synthesis chemistry on the Genome Analyzer; Paired-End Genomic DNA Sample Prep Kit, a streamlined library preparation kit to generate 200?500 kb insert paired-end reads; InfiniumHD Whole-Genome BeadChips comprising Human1M-Duo, Human610-Quad, Human660W-Quad, and HumanCytoSNP-12, which are multi-sample DNA analysis microarrays that interrogate up to 1.2 million markers per sample; iSelect Custom Genotyping BeadChips that are customer designable SNP genotyping arrays for 6,000 to 200,000 markers; and Whole-Genome Gene Expression BeadChips, which are multi-sample expression profiling arrays with up-to-date content for human, mouse, and rat. Illumina was founded in 1998 and is headquartered in San Diego, California.

the hype of genetic testing is waning?

SNP chip testing is in a hype cycle, and both the peak and the trough are irrational and destructive. The Times #1 invention was probably the apex of this period, and we already know that the industry is in for hard times regarding Navigenics, deCODE, and continued economic difficulties.

As for foxing, the cycle is predictable. Here’s how it will go: 

Something new and futuristic! 

Wow, DNA and mutations, just like in comic books!

23andMe is the most important invention in the world

“Have we gone too far?"

A prosaic, hard-hitting piece about serious doubts

Genetic testing is a bunch of bollocks and everybody involved is a greedy hack

We’re wasting money on astrology and astrologists

Back to basics! some very good study reports application of genomics with obviously positive results

Genomic medicine is another ordinary tool with it’s own applications

People trust it for what it is, and media coverage dims to mean neutral hum

We know that will happen, so our strategy is simple: Be honest, be transparent, be available, be consistent. No hype. Just responsible medical professionals reliably providing respectable medical advice and best-effort expert opinions —except from a genomic specialty perspective. The public will find you when the truth is fashionable again, and you won’t have to spend millions of dollars to win the hype game.

personal gene tests show limited use

by Elizabeth Lopatto and John Lauerman April 2009 (Bloomberg)

Companies that sell DNA testing to pinpoint individual risks for common diseases provide little real information, says one of four commentaries featured in the New England Journal of Medicine. David Goldstein, a Duke University researcher, wrote that most common

disorders, including cancer and diabetes, involve hundreds of genes, and that many mutations may have the capacity to raise a person’s risk. That suggests the testing offered by companies now, which focuses on the few variants that have already been identified, isn’t likely to spot people at highest risk, he said. “In pointing at everything, genetics would point at nothing,” Goldstein wrote yesterday in the journal.

DeCode Genetics Inc., based in Reykjavik, Navigenics Inc., of Foster City, California, and 23andme Inc., of Mountain View, California, are among companies that test the DNA of individuals to pinpoint variants that may identify disease risk. The journal commentaries are the first public forum featuring leading genetic researchers discussing the usefulness of so-called genome-wide association studies, research that scans the DNA of thousands of people to identify mutations that may be common to certain ailments. The headline on the lead commentary asks, “Are we there yet?” The answer suggested by the authors is not quite.

Human Genome Project Researchers hoped the studies, made possible by completion of the Human Genome Project in 2003, would open new windows on why ailments such as cancer

and diabetes occur, and allow doctors to offer highly personalized treatment regimes that would focus on the underlying cause. At the same time, companies such as DeCode, Navigenics and 23andme have designed tests, costing as much as $1,000 apiece, that search through the genomes of individuals for hints disease may be hiding based on findings from

the larger research. The association studies helped make it “routine to identify common, low-risk variants” present in less than 5 percent of the population that confer only “small” risks of disease, wrote John Hardy, a researcher at the Institute of Neurology at the University College London, and Andrew Singleton, of the Laboratory of Neurogenetics in Bethesda, Maryland, in one of the four commentaries.

Genome-wide association studies haven’t explained as much of the genetic components of disease as anticipated, wrote Goldstein, director of the Center for Human Genome Variation at Duke University in Durham, North Carolina. For that reason, scientists ought to spend more time looking at rare variants that could lead to new drugs or suggest the designs for personalized prevention programs, he said. Beyond the variants for Alzheimer’s disease,

glaucoma and macular degeneration, “there are probably either no more common variants to discover, or no more that are worth discovering,” Goldstein said.

Personal tests scanning the whole genome give a lot of useless information; wouldn't there be a better solution in designing tests targeted to specific clinical conditions?