Of 23andMe, Google, and other personal genome services
June 21, 2009 by Grace Ibay
Filed under Human Genome and Sequencing, Personalized Medicine
What does mega-search engine Google and mega-genome services company 23andMe have in common?
Two actually, and maybe more…
First – investments and second, spouses.
This week, Google invested $2.6 million in 23andMe on top of the $7 million invested so far. No surprise there, since Google’s co-founder Sergey Bring is the spouse of 23andMe’s co-founder Anne Wojcicki. But as CNN remarked, it’s one the perks of marrying Google.
In another news, biotech giant Illumina has launched a personal genome sequencing service. That is, you can have your entire genome sequenced – all 3 billion DNA - for a hefty price of $48,000. Unlike 23andMe and other genome-testing services where only genotypes are provided, Illumina will provide your entire DNA sequence.
But you need a prescription and a physician’s OK to get the ball rolling. AND, you still need one of the other personal genomics companies such as 23andMe to interpret the sequence and tell you your risks.
image: Newscom
Asking hard questions about personal genome
November 7, 2008 by Grace Ibay
Filed under Genetic Testing, Legislation, Policies, Ethics, Law, Personalized Medicine
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Now that accessing your genetic information is cheaper than buying a Google Smartphone, now what? What can you get from it? How can you use it? Just as important, but less asked - how do you protect it?
The journal "Nature" joins the debate with a full online issue devoted to the personal genome revolution and its implications. For a fee or for free, you can squeeze more information out of the SNP data or full sequence you got from the commercial genome services you paid for initially. For example, you can get an idea of your risk for a certain disease. With so much information at your fingertips, is everything believable? Should you change your lifestyle because you have one variant for some disease risk? How many "risky" variants does one need anyway? Should you stop running because a variant reveals an increased risk for exercise induced ischemia? Should your doctor change medications because of information on one SNP? One of the Nature articles tackles the issue of how genetic-susceptibility information affects medical practices and lifestyle choices.
However, what personal genome, and the genome-wide association scans in particular, failed to accomplish is to discover the heritability of certain disease risks. Despite the promise and hype, GWAS only revealed small effects of common alleles and nothing that explains estimates of heritability. Are those estimates wrong, or are we looking at the wrong places?
Nature also takes on the issue of mandating consent. On one side there is informed consent and protecting the privacy of the individual, and on the opposing end is global justice and the advancement of "global, collaborative biomedical research". Can we have protect the individual without impeding science, or is there no other way but to choose one or the other?
The Nature editorial began with "research is needed into the way individuals use their genomic information, and into protection from its abuse by others."
Well, then, we certainly have our work cut out for us.
Image credit: Newscom
Navigenics - the whole interview
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
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.
Navigenics #4 - ”Low penetrance v high pentrance genes”
Navigenics #6 - ”Privacy, insurance, GINA and ethics”
Navigenics #1 - ”My genes, my health, my life – who are Navigenics?
The much anticipated launch!
April 8th, 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 – 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.
Company co-founders are Dietrich Stephan, a Director at the Translational Genomics Research Institute and David Agus, a protein biomarker researcher at
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.
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%
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.
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.”
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.
“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:
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.
“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”.
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 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
Navigenics #7 - “The barriers to success”
April 11, 2008 by Elaine
Filed under General Genetics and Health, Genetic Testing, Genetic information and education, Interviews, Polls, Podcasts, Personalized Medicine
Concluding G&H’s exclusive interview with Navigenics’ Medical Director Dr Michael Nierenberg, we explore the challenges faced by Navigenics to integrate its genomic services into mainstream medicine …
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
Navigenics #6 - “Privacy, Insurance, GINA and Ethics”
April 11, 2008 by Elaine
Filed under General Genetics and Health, Genetic Testing, Genetic information and education, Legislation, Policies, Ethics, Law, Personalized Medicine
Continuing G&H’s exclusive interview with Navigenics’ Medical Director Dr Michael Nierenberg, we explore the whole issue of 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. Navigenics’ Medical Director, 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.
To learn more about the company and its thoughts on key issues surrounding the genomics industry, look out for the following articles which will be posted throughout this week.
Navigenics #4 - Low penetrance v high penetrance genes
Navigenics #5 - Corporate or pragmatic genomics
Navigenics #7 - The barriers to success!
Navigenics #5 - “Corporate or pragmatic genomics?”
April 10, 2008 by Elaine
Filed under General Genetics and Health, Genetic Testing, Interviews, Polls, Podcasts, Legislation, Policies, Ethics, Law, Personalized Medicine
In this fifth article in the series of articles originating from G&H’s exclusive interview with Navigenics’ Medical Director, Dr Michael Nierenberg, we explore the contentious issue of whole genomic testing.
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.
To learn more about the company and its thoughts on key issues surrounding the genomics industry, look out for the following articles which will be posted throughout this week.
Navigenics #3 - SNP testing – can it be used for disease risk assessment?
Navigenics #4 - Low penetrance v high penetrance genes
Navigenics #6 - Privacy, insurance, GINA and ethics
Navigenics #4 - “Low penetrance genes v high penetrance genes”
April 9, 2008 by Elaine
Filed under Cancers, Genetic Testing, Personalized Medicine
In this fourth in the series of articles originating from G&H’s exlusive interview with Navigenics’ Medical Director Dr Michael Nierenberg, we look at the whole issue of low penetrance versus high penetrance gene testing.
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.”
To learn more about the company and its thoughts on key issues surrounding the genomics industry, look out for the following articles which will be posted throughout this week.
Navigenics #3 - “SNP testing – can it be used for disease risk assessment?”
April 9, 2008 by Elaine
Filed under Cancers, Genetic Diseases and Conditions, Genetic Testing, Interviews, Polls, Podcasts, Personalized Medicine
In this third article originating from G&H’s exclusive interview with Navigenics’ Medical Director, Dr Michael Nierenberg, we explore the whole issue of SNP testing and how SNPs can be used in 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.”
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:
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.
To learn more about the company and its thoughts on key issues surrounding the genomics industry, look out for the following articles which will be posted throughout this week.
Navigenics #1 - My genes, my health, my life – who are Navigenics?
Navigenics #2 - A stroll through your genomic park – about the test
Navigenics #4 - Low penetrance v high penetrance genes
Navigenics #2 - “A stroll through your genomic park – the service”
April 8, 2008 by Elaine
Filed under Genetic Testing, Interviews, Polls, Podcasts, Personalized Medicine, Preimplantation Genetic Diagnosis
This second article originating from G&H’s exclusive interview with Navigenics’ Medical Director Dr Michael Nierenberg takes a look at the service you will receive if you subscribe to Navigenics’ genomic wellness service.
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
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%
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.”
To learn more about the company and its thoughts on key issues surrounding the genomics industry, look out for the following articles which will be posted throughout this week.
Navigenics #1 - My genes, my health, my life – who are Navigenics?
Navigenics #1 - “My genes, my health, my life – Who are Navigenics?”
April 7, 2008 by Elaine
Filed under General Genetics and Health, Genetic Testing, Interviews, Polls, Podcasts
This is the first article originating from G&H’s exclusive interview with Navigenics’ Medical Director Dr Michael Nierenberg. We take a look at the company and who is behind Navigenics.
The much anticipated launch!
April 8th, 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 – 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.
Company co-founders are Dietrich Stephan, a Director at the Translational Genomics Research Institute and David Agus, a protein biomarker researcher at
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.
To learn more about the company and its thoughts on key issues surrounding the genomics industry, look out for the following articles which will be posted throughout this week.
Navigenics #2 - A stroll through your genomic park – about the test
