Complete Genomics launched this week with an announcement to provide a person’s entire genetic sequence for $5,000 each.

The company’s ultimate goal is to sequence 1 million complete genomes, or 1,000 people each in 1,000 disease studies, in the hopes of revealing the genetic basis behind major human diseases. From a scientist’s point of view, this is exactly the data and perhaps sample size we need to study the role of genetics on development and cause of disease. It would be a nightmare to analyze, but it won’t be for lack of data, if the sequence will be made available across different studies.

But it’s another story from an individual’s point of view. Having a complete sequence of one’s genome will identify all the genetic mutations and alleles that could be related to or causing diseases, and the question is - would you really want to know? 

The Voodoo Medicine Man asks a more pointed question: "What if you were 30 years old and your genome showed you were going to develop Huntington’s chorea, Alzheimer’s disease, multiple sclerosis, or amyotrophic lateral sclerosis (ALS)? Would you live life differently? Would you want to live? Would you reproduce?"

WOULD YOU? Would you want to know what your genome holds? The comments are open.

(This post is part of the Health and Wellness Channel Theme Day - "Harvest")

(Image credit: medicineworld.org) 

This week b5 media’s Health and Wellness channel is focusing on celebrities health.  Our focus is not on ‘tittle tattle’  and hot gossip about Angelina, Brad or ’Tomkat’ but rather a serious look at health issues that high profile individuals share with all of us. 

In the genetics world, our ‘celebrities’ are the likes of Craig Venter and James Watson - pioneering geneticists but basking in the eye of the media.

The race to sequence genomes has resulted in some major PR, particularly for Craig and James. 454 is sequencing James Watson’s genome and Craig has announced some of his results in PLoS.  TV star Larry King, cosmologist Stephen Hawking, Google co-founder Larry Page, Microsoft co-founder Paul Allen and junk bond trader Michael Milken have all paid a vast sum of money to have their genomes sequenced.

However, this is causing a degree of discomfort within the scientific community.  They are worried that only the rich will benefit and it’s sending out the wrong messages to the public.

I have a different perspective.  Research has to start somewhere.  The very rich have always been the first to buy pioneering technology whether it’s a car, the latest computer or mobile phone.  Their money will assist  in further driving down the cost of the technology to such a price that will be affordable to us mere mortals.

Elaine Warburton  www.geneticsandhealth.com

At last one for the girls!

 … Geneticists at Leiden University Medical Centre (LUMC) are the first to determine the DNA sequence of a woman. She is also the first European whose DNA sequence has been determined

The DNA is that of Dutch scientist Dr Marjolein Kriek, a clinical geneticist at LUMC. “If anyone could properly consider the ramifications of knowing his or her sequence, it is a clinical geneticist,”says professor Gert-Jan B van Ommen, leader of the LUMC team. 

Now we have  a new ‘Watson and Kriek’ to compare genetic diversity!

Elaine Warburton  www.geneticsandhealth.com

 (Tasmanian Tiger - photo credit www.bbc.co.uk/news)

Using transgenic mice, Australian and American researchers have shown that they can “resurrect” a snippet of DNA from the genome of an extinct animal — the Tasmanian tiger — and test its biological function in a living animal.   The last Tasmanian Tiger died in an Australian zoo in 1936 having been hunted to extinction.

Dr Andrew Pask, of the Department of Zoology at Melbourne University, who led the research, said it was the first time that DNA from an extinct species had been used to carry out a function in a living organism.

“As more and more species of animals become extinct, we are continuing to lose critical knowledge of gene function and its potential,” he said.  “Up until now we have only been able to examine gene sequences from extinct animals. This research was developed to go one step further to examine extinct gene function in a whole organism.”

The team extracted DNA from some of these specimens, and injected a gene involved in cartilage formation into developing mouse embryos.  The DNA functioned in a similar way to the equivalent gene in mice, giving information about the genetic make-up of the extinct marsupial.

“At a time when extinction rates are increasing at an alarming rate, especially of mammals, this research discovery is critical,”said Professor Marilyn Renfree, also of the University of Melbourne’s Department of Zoology.

“For those species that have already become extinct, our method shows that access to their genetic biodiversity may not be completely lost.”

Elaine Warburton  www.geneticsandhealth.com

A team from The University of Alabama (UAB) have found that among billions of HIV variants only a few lead to sexual transmission.

George M. Shaw Professor in the UAB departments of Medicine and Microbiology and senior author on the report, said the research sheds new light on potential vulnerabilities in the virus at a time when science, medicine and society are still reeling from the failure of a major HIV vaccine clinical trial.

“We can now identify unambiguously those viruses that are responsible for sexual transmission of HIV-1. For the first time we can see clearly the face of the enemy. …Our findings allow us to identify not only the transmitted virus, but also viruses that evolve from it.”

The study was performed by sequencing many copies of the HIV envelope gene present in the viruses taken from 102 recently infected patients. The envelope gene encodes for a protein called Env that forms part of the outer covering of the virus, and is responsible for its infectiousness.

The researchers then used sophisticated mathematical models of HIV replication and genetic change to identify the virus or viruses responsible for transmission. In 80 percent of the newly infected patients, a single virus caused transmission, though each virus was different in each patient. In the other 20 percent of patients, two to five unique viruses caused transmission.

According to WHO, in 2007, 33.2 million people were estimated to be living with HIV, 2.5 million people became newly infected and 2.1 million people died from AIDS.

Elaine Warburton  www.geneticsandhealth.com

Researchers have found marked genetic differences between brains of men who committed suicide and the brains of men who did not. Of those individuals studied, all had been victims of child abuse.

Even though the genetic sequence was the same in the suicide and non-suicide brains, researchers at the McGill University, Montreal, Quebec, led by Moshe Szyfa, discovered that epigenetic markings were different. That is, the researchers noted a chemical coating on genes that was influenced by environmental factors. In this unique study, the DNA of male suicide victims from Quebec was analysed. The 13 people who committed suicide all had been victims of child abuse.

“It’s possible the changes in epigenetic markers were caused by the exposure to childhood abuse, although in humans it’s difficult to establish causality between early childhood and epigenetic markers, in the way we have established this in animal subjects,”said Szyfa. “The big remaining questions are whether scientists could detect similar changes in blood DNA - which could lead to diagnostic tests - and whether we could design interventions to erase these differences in epigenetic markings”

“Our data are merely consistent with the hypothesis that early life events can alter the epigenetic status of genes that mediate neural functions, and thus contribute to individual differences in the risk for suicide,” conclude the authors.

For further information, click on the following link

http://www.plosone.org/article/fetchArticle.action?articleURI=info:doi/10.1371/journal.pone.0002085

Elaine Warburton  www.geneticsandhealth.com

Scientists from Imperial College London and other international institutions have discovered a gene sequence that is associated with a 2cm expansion in waist circumference, a 2kg gain in weight, and a tendency to become resistant to insulin, which can lead to type 2 diabetes. The sequence is found in 50% of the UK population.

The study shows that the sequence is a third more common in those with Indian Asian than in those with European ancestry. This could provide a possible genetic explanation for the particularly high levels of obesity and insulin resistance in Indian Asians, who make up 25% of the world’s population, but who are expected to account for 40% of global cardiovascular disease by 2020.

The new gene sequence sits close to a gene called MC4R (Melancortin-4 Receptor), which regulates energy levels in the body by influencing how much we eat and how much energy we expend or conserve. The researchers believe the sequence is involved in controlling the MC4R gene, which has also been implicated in rare forms of extreme childhood obesity.

Elaine Warburton  www.geneticsandhealth.com
 

A nationwide team of researchers, funded in part by the National Human Genome Research Institute (NHGRI), one of the National Institutes of Health (NIH), has produced the first sequence-based map of large-scale structural variation across the human genome.

Recently created maps such as the HapMap have catalogued the patterns of small-scale variations in the genome that involve single DNA letters, or bases.  A sequence-based map provides much finer resolution and location information.

Researchers constructed the structural variation map by partially sequencing the genomes of eight people: four people of African descent, two of Asian descent and two of European descent. Sequence data were collected from each end of roughly 1 million random small pieces of DNA from each individual’s genome.

These end sequences were compared to the reference sequence of the human genome completed in 2003. Where precise matches did not occur, the scientists inferred that there was a structural difference between the volunteer’s sample and the reference sequence of the human genome.

In addition to revealing new variations, the map also provides a more detailed look at the locations of nearly 1,700 structural variations - half of which had not been previously described . About half of the structural variations were found in at least two of the eight genomes analyzed. The work also uncovered 525 new regions of large-scale structural variation in the human genome. The large-scale differences came in many forms, including deletions and out-of-place insertions of long stretches of DNA. Almost half of the new variations consist of differences in how many copies individuals have of a certain gene, which researchers refer to as a copy number variant.

“The structural variation map will give us a much better picture of genetic variation between each individual, and help us better understand these areas of the genome that are prone to large-scale changes over time,”said Evan Eichler, Ph.D., of the University of Washington, who led the research.

Sequence data from the structural variation map are publicly available through the NIH’s National Center for Biotechnology Information Trace Archive, www.ncbi.nlm.nih.gov/Traces. Mapping data are also freely available from the University of Washington, http://hgsv.washington.edu.

Elaine Warburton  www.geneticsandhealth.com

G&H’s INTERVIEW WITH NAVIGENICS

Navigenics approached Genetics and Health for an interview. With so much written about similar genomics companies such as 23andme, Knome, deCODE genetics, I was intrigued to learn more about this company.  In particular, Navigenics appears to be the only company within this industry genre who provides a comprehensive wellness model – a healthcare model that Opaldia, the genetic screening and health surveillance company I founded, endorsed whole-heartedly. 

I interviewed Navigenics’ Medical Director Dr Michael A Nierenberg MD, clinical professor of medicine, emeritus at Stanford University to find out what makes Navigenics stand out amongst its competition.  He was most candid in his responses and the company has been open and transparent in responding to my follow-up queries, for which I am most grateful. 

The following article takes an in-depth look into Navigenics’ genomic services including how the company has positioned its services in relation to its ‘competition’ but importantly how Navigenics answers some of the ethical issues surrounding the whole field of genomic testing. The article has been divided into the following sections:

Navigenics #1 - ”My genes, my health, my life – who are Navigenics?”

Navigenics #2 - ”A stroll through your genomic park – about the test”

Navigenics #3 - ”SNP testing – can it be used for disease risk assessment?”

Navigenics #4 - ”Low penetrance v high pentrance genes”

Navigenics #5 - ”Corporate or pragmatic genomics”

Navigenics #6 - ”Privacy, insurance, GINA and ethics”

Navigenics #7 - ”The barriers to success!”

Navigenics #1 -  ”My genes, my health, my life – who are Navigenics? 

The much anticipated launch! 

April 8^th, 2008 Navigenics Inc launches its genomics service In New York. 

It has branded its service as “Navigenics Health Compass”.  

In its launch literature the company writes: “Navigenics aims to transform medicine from a ‘sick care’ model of ‘wait and see’ to the emergence of early risk detection.  It aims to empower individuals with opportunity and knowledge and to take preventative steps and a hands on approach to their family’s health and wellness” 

Navigenics – a veritable who’s who in genetics and business 

Navigenics has some highly influential supporters including Kleiner, Perkins, Caulfield and Byers (KP) and Sequoia Capital who have recently invested just under US$4m.   Amongst its heavy hitting Board members, co-founders and partners are David Brailer, until recently the Bush Administration’s point man on electronic health records and more recently Chairman of Health Evolution Partners, a private equity fund that invests in healthcare.   

Company co-founders are Dietrich Stephan, a Director at the Translational Genomics Research Institute and David Agus, a protein biomarker researcher at Cedars-Sinai Medical Hospital in LA.  Navigenics CEO Mari Baker was KPs ‘executive in residence’ and is former President of BabyCenter a website for parents. 

Also advising is politically connected Greg Simon, now President of Michael Milken’s FasterCures organization and previously Al Gore’s chief domestic policy advisor. 

Navigenics has close ties to Affymetrix and uses Affy’s gene chip (23andme uses Illumina’s chip).  Affy’s former associate general counsel Stephen Moore is now Navigenic’s general counsel and the company’s VP Business development, Sean George was also at Affy.  Amy duRoss, Navigenics Head of Policy and Business Affairs, was formerly with the Californian Institute of Regenerative Medicine and is also Navigenics’ spokeswoman.

Navigenics #2 - A stroll through your genomic park – about the test

The Navigenics service 

When you sign up to the Navigenics service you effectively enrol as a member and not as a patient or customer.   For US$2,500 you subscribe to an annual package which includes a genomic scan to identify your lifetime risk (compared to an average American male or female) of developing 18 core, treatable diseases such as heart disease, Alzheimer’s and type II diabetes.  Included in the package is on-line and telephone support from experienced genetic counselors who will hand-hold you throughout the process and be available to discuss your results in ‘easy to understand’ language.   

Over time, Navigenics will be adding additional information and tests to its core service portfolio.  As a subscriber to the service, you will have access and be advised of any updates and how they relate specifically to your health risk profile.  Ongoing annual subscription for the Navigenics service will be at a nominal annual subscription, currently US$250 pa. After subscribing you will receive a saliva collection kit.  Once you have provided a saliva sample you will be asked to send the kit back to Navigenics’ CLIA certified lab in California, where your DNA will be extracted and scanned. 

About a month later, you will be informed of your test results via your own personal account within a secure area of Navigenics’s website.  The results also come with an explanation of what they mean and the impact they may have on your overall health risk profile.  In addition there will be guidance and recommendations on how to mitigate against any identified health risk through your personalized health action plan. 

For example, if you are a female, your profile may contain the following results: 

Alzheimer’s              Yourself  8%            Average population   17%

Breast cancer          Yourself 14%           Average population   13% 

This is interpreted as you are at lower risk of developing Alzheimer’s during your life compared to the average female but at higher risk of developing breast cancer during your life than an average female.  Regular screening for breast abnormalities may well be a sound investment for your ongoing wellness.   Dr Nierenberg comments “Navigenics wishes to foster an ongoing partnership and relationship between members and the medical communities.  This is achieved through an educational program and repeated contact. The genetic screen only provides part of the health picture so our members need to be counseled on the fact that as there is also a large environmental component involved in disease development, so they may never get it.” Genetic counseling and having adequate access to this service is of paramount importance to Navigenics.  Elissa Levin, heads up the company’s genetic counseling services.  Dr Nierenberg describes the counseling team. “The counseling team provides members with clinically based knowledge to promote a greater understanding of their health risks, to decrease anxiety at every step of the way and to encourage them to take positive steps to live as long and healthy a life as possible.” 

Navigenics #3 - SNP testing – can it be used for disease risk assessment?

Navigenics has focused on around 100 of the most definitive research papers on SNPs (single nucleotide polymorphisms) that have been most strongly associated with 18 particular diseases such as breast cancer, type II diabetes, cardiovascular disease.  The company has built an algorithm (mathematical computer program) that estimates the risk of a healthy person developing a disease if their genome has the relevant SNP. 

The company has spent immense time and financial resources on engaging its panel of scientific and clinical experts to analyze the many hundreds of SNP association studies.  Says Dr Nierenberg:  

“It is a pre-requisite for Navigenics that any SNP to be included within its core panel must have undergone rigorous scientific and clinical evaluation and had the supporting research replicated in an appropriately peer reviewed paper. Functional data and magnitude of effect are also taken into account, but studies are not automatically excluded if functional data is unavailable or the effect estimate is small.  That being said, there is currently nothing on our panel with a relative risk less than 1.1 of developing a disease if the associated SNP is carried.”

99% of human DNA sequences are the same across the entire human population.  However, variations in DNA sequence can have a major impact on how humans respond to disease, the environment and drugs & medicines. SNPs are DNA sequences that occur when a single nucleotide (A,T,C or G) in the genome sequence is altered.  For example - AAGCT to ATGCT.  For a variation to be considered a SNP, it must occur in more than 1% of the population.  Many SNPs have no effect on cell function, but many could predispose people to disease or influence their response to a drug.     

A single altered gene is only part of the disease development equation.  To be more at risk of developing a complex disease such as cardiovascular disease, an individual needs to possess a number of interactive SNP ‘faults’ in multiple genes.    A SNP that is common in one geographical region or ethnic group, may be much rarer in another.  This is one of the main arguments against using SNP based analysis for the whole population.  For example if much of the research has been carried out on a predominantly ‘pure’ Caucasian cohort the test for that particular SNP may only be appropriate for a Caucasian and not, for example an African or Asian. Navigenics SNP data is largely Caucasian, but the company is more versant in the actual calculations of life-time risk and who was included in that which may well include non-Caucasians.  Dr Nierenberg explains:  

“We have reason to believe that the data applies across ethnic groups, but further data is needed to confirm this, will be collected over time, and reported to our members. For now we are very transparent about the groups in which the studies are done, whether Caucasian or in some cases non-Caucasians. Where associations have been looked for in other ethnic groups, generally we see that the effect sizes are consistent across other ethnicities including African Americans and Asians.”

As there are estimated to be over 3 million SNPs there is obviously an infinite amount of research still to be carried out on SNPs and their interaction both at the genomic and environmental levels.  The SNP single gene model is probably too simplistic to be able to provide risk scores for complex diseases, so I asked Dr Nierenberg how Navigenics foresaw their product evolving in the future. 

Dr Nierenberg advised: “We’re not basing our entire approach per se on the test, rather we’re looking at promoting wellness and the effects of the environment on health.  We believe our members should be pointed in the right direction in terms of their genetic predisposition to disease and offered suggestions on how to manage their risk.” 

In terms of the future evolution of the product, Dr Nierenberg advises that the results of ongoing studies will be added to the core test to enhance Navigenics’ service offering.

Navigenics #4 - Low penetrance v high pentrance genes

SNPs are known as ‘low penetrance genes’ where it will only sometimes produce the symptom or trait with which it has been associated at a detectable level. In this case of low penetrance it is difficult to distinguish environmental from genetic factors.   

Whereas ‘high penetrance genes’ such as the breast cancer genes BRCA 1 and 2 are those where the trait will almost always be shown by the individual carrying the faulty gene. In this case a BRCA 1 and 2 carrier will have over an 80% chance of developing breast and/or ovarian cancer in their lifetime. 

Most high penetrance genes have been patented, in the case of BRCA 1 and 2 by Myriad Inc. It is a costly process to obtain a license from the patent owner and in the case of BRCA 1 and 2 the cost of a Myriad test is around the US $5,000 mark, two to five times more expensive than genomic screens and therefore probably prohibitive to genomic screening companies, in cost terms.   

Dr Nierenberg advises that Navigenics have made a conscious decision not to include high penetrance genes in their core panel, preferring to focus on those low penetrance genes that are affected by environmental factors.  

“In the case of the BRCA genes, only a relatively small proportion of the population – as low as 5% - carry one or more of these genes.  We are focused on SNPs that are apparent within whole populations. We make it clear in our literature that we do not test for this type of gene.”

Navigenics #5 - Corporate or pragmatic genomics

Navigenics uses Affymetrix’s gene chip which is able to test around 1 million genetic markers.  However Navigenics has initially focused on 18 specific, treatable diseases which form the foundation of its designated SNP panel.  This panel will expand over time.   

I asked the question of what happened to a member’s DNA – whether it was disposed of or stored.  Dr Nierenberg explained that a member’s DNA was stored in anticipation of future advances in understanding how genes and the environment interact in disease development.  

“As part of a member’s subscription, we will automatically advise them of these advances if relevant to their particular disease risk as and when they become available”. 

The phrases “corporate genomics” and “the Microsoft of the genome” have been coined to describe the genomic business models of companies such as Navigenics, 23andMe and deCODE Genetics where getting access to your genome would require handing it over to a company that assumes it knows better that you do which parts of your genome you are entitled to see, and then charge you again and again for updated versions of the same product.  

However, the counter argument is that from modern medicine’s inception, we have effectively handed over our health to a specialist body – physicians, who themselves have grown into corporate organisations – hospitals, who, in turn are empowered to make clinical and financial judgements on our health and well-being.  Is there really a tangible difference? 

Dr Nierenberg defends Navigenics business model by citing the very arguments that are causing deep rifts within the genetics communities, namely, Navigenics only provides members with test results for diseases where firstly there is sufficient research on the SNPs in terms of robustness of testing, clinical utility and outcomes, and secondly, but importantly, the diseases they focus on are those where something can be done to reduce the risk of developing that disease - such as exercise, nutrition and regular screening.   

Imagine the confusion and furore if Navigenics were to provide its members with their full 1 million marker analysis!  Navigenics’ (and others) sensible, if somewhat patriarchal approach of ‘drip feeding’ results to members as and when the research is robust enough to bring the SNP into the public domain, is one that should be applauded not derided.  Yes, they and others have the potential to make substantial profits if consumers chose the service.  But the corporate world is also littered with the carcasses of companies that didn’t get it right.

Navigenics #6 - Privacy, insurance, GINA and ethics

One of the main consumer concerns is that of privacy of information, both in terms that a genetic test has been undertaken but also that the results of the test are kept private and out of the public domain.  At the time of writing, the controversial GINA (Genetic Information Non-discrimination Act) is being passed by the US Senate which will enable genetic testing information to be kept private and not be used to discriminate against an individual, particularly by the insurance industry.  The insurance industry is understandable against the Bill. 

Dr Nierenberg advises that Navigenics takes the whole issue of security of data very seriously.   

“Navigenics takes precautions such as multiple servers, encryption and security audits … each member has access to their own section of the website which is password protected.  However, if a member forgets their password, there is a highly complicated route to get back in.  It is not just a case of emailing the password to an email address. … GINA legislation will be helpful in terms of protecting sensitive information”. 

The company has also incorporated a rigorous Ethics Advisory Board tasked to develop policies and report to the Executive Board in the fields of bioethics, patient rights, health information technology and technology and data security. In terms of working with the health insurance industry, Dr Nierenberg advises that at present the service Navigenics offers is ‘direct to consumer’ and the health insurance industry are not be involved.  However the company is already working with health insurers to integrate this type of testing and service as part of a standard medical insurance package. He says: 

“There is a strong health economic argument to incorporate genomic screening into an insurance package.  Catching a disease early or even preventing it must surely be in everyone’s best interests rather than wait until the disease is established and expensive treatment is almost certainly needed”. Dr Nierenberg uses the example of HIV testing and the insurance industry to describe how he believes genetic testing will evolve over time   “… Back in the 1980’s HIV testing was hated and received a lot of abuse.  However, over time the test has become familiar and everyone is comfortable with routine HIV testing”. Dr Nierenberg says Navigenics is also looking to expand it results service to become fully consumer friendly.  They are working on communication with its members via cell phone and other internet options.  However none of these initiatives can be implemented until the company is satisfied that data can be securely anonymized. 

Navigenics, at some stage, may well request permission to use a member’s DNA in anonymized research studies.  This will bring up a wealth of ethical issues such as informed consent at every stage of the research and explanation for what research the DNA will be used for.

Navigenics #7 - The barriers to success!

When founding my old company Opaldia, probably the single most challenging aspect of early adoption of genetic testing was physician barriers.  Mostly this was borne out of a genuine lack of understanding about the field of genetics but also concerns that testing was too much in its infancy and tests had not been subject to rigorous clinical evaluation.  Time and again the phrase ‘not undergone prospective trials’ was used as a defense against bringing genetic testing into mainstream medical practice. 

I was interested to learn how Navigenics proposed to overcome this barrier.  Dr Nierenberg explained that Navigenics has developed a physician education program. He says: 

“We’re developing our own on-line material but we’re working with Medscape to develop a CME program for physicians to access.  The educational material will cover a large range of information from basic to complex”. 

Dr Nierenberg describes the word genetics as a ‘hot button’, guaranteed to evoke the strongest of reactions.  He is philosophical about the fact that genetics research and genetic advances are still at a relatively embryonic stage but made the analogy with the completeness of research into the effects of smoking. 

“Everyone is aware that smoking is not good for health. Would it be of benefit to continue smoking until all the research evidence to prove smoking is bad for you is complete?  … This is the same for genetics…. If there is a means to identify an individual’s increased risk of developing a disease then isn’t it is everyone’s best interests to use this?” 

There have been a number of recent articles on the state of play of personalized genomics, some of which have been less than complimentary to industry players.  The term ‘recreational genomics’ has been used to describe these services.  I asked Dr Nierenberg whether he considered any damage had been done to this embryonic field by these articles.  Dr Nierenberg again took a philosophical view on these articles:  “Navigenics is no way a ‘recreational’ genomics company and does not wish to contemplate entering any ‘recreational’ field. It is a company focusing on the wellness and prevention aspects of health.  Our service focuses on actionable entities and things of substance such as cardiac disease, not eye colour or such like. We welcome regulation and make heavy use of genetic counseling.  We follow all NHGC latest guidelines and best practice and more …” Dr Nierenberg and his team believe that the company is ‘… ahead of the curve and when you are leading a new field there is always a level of scepticism about your service and an expectation that you will be challenged every step of the way’. He cited the example of the C-Reactive Protein (CRP) test and its use in diagnosing cardiac inflammation.  Initially the test was ridiculed but now it is established as a routine diagnostic test used alongside CT heart scanning – another modality which initially received poor press.   

Navigenics firmly believes that through educating both clinicians and the public, it will only be a matter of time before genomic screening become part of routine health and wellness programs.  By focusing its services around a serious health delivery model rather than a ‘recreational’ model, Navigenics anticipates achieving its company vision to transform medicine from a ‘sick care’ model of ‘wait and see’ to the emergence of early risk detection and prevention of disease development.

I hope you enjoyed this series of articles about Navigenics’ Wellness Services.  I am most thankful to Dr Michael Nierenberg and the Navigenics’ team for the opportunity to discuss in-depth the issues surrounding the whole field of personal genomics services, wellness and health management.

Elaine Warburton  www.geneticsandhealth.com

Scientists from Helicos BioSciences, Ohio University, and Stanford University have published a paper in Science describing the first single-molecule sequencing of a whole genome.

The researchers used a single-molecule sequencing, sequencing-by-synthesis method, developed by Helicos, to sequence the roughly 7,000-nucleotide genome of the M13 virus.  In the company’s version of single-molecule sequencing, an approach first proposed in the late 1980s, nucleic acid templates that are created by digesting genomic DNA are hybridized to primers that are covalently anchored in random positions on a proprietary glass cover slip in a flow cell. Then, a polymerase and labeled DNA bases are added, one nucleotide at a time. After they are incorporated into a complementary strand, these labeled bases are detected by fluorescence imaging. Because a signal is detected from a single DNA molecule, the method obviates the need for amplification by cloning or PCR. And, the researchers say, the availability of a consensus human genome sequence is changing the sequencing landscape.For further information click on:

http://ir.helicosbio.com/releasedetail.cfm?ReleaseID=303160

Elaine Warburton  www.geneticsandhealth.com