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
Awesome!
Navigenics promises to deliver your risk assessment report electronically and provides genetic counseling over the telephone to educate customers on their genetic predispositions and to encourage them to take preventive measures.