Thank you to Alyssa Friedland  from Genetic Alliance for this press release - a momentous occasion in the field of genetics.  I have decided to issue the press release in its entire form.  You may think me biased but the arguments put forward in the statement are cogent, well thought out and they echo my own opinions.

What we need to do now is ensure that we take a responsible approach to this legislation and continue to ensure that the field of genetics is introduced into mainstream medicine ethically and to the highest clinical standards.

Elaine Warburton   www.geneticsandhealth.com

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President Bush Signs Landmark Genetic Nondiscrimination Information Act Into Law

The Coalition for Genetic Fairness (http://www.geneticfairness.org) commends President George W. Bush for signing into law today the first civil rights legislation of the new millennium, the Genetic Information Nondiscrimination Act (GINA).

GINA is the first and only federal legislation that will provide protections against discrimination based on an individual’s genetic information in health insurance coverage and employment settings.

“This is a tremendous victory for every American not born with perfect genes – which means it’s a victory for every single one us,” said Representative Louise Slaughter (D-NY). “Since all of us are predisposed to at least a few genetic-based disorders, we are all potential victims of genetic discrimination. Today marks the beginning of a new era in health care,” continued Slaughter. “Americans can finally take advantage of the tremendous potential of genetic research without the fear that their own genetic information will be used against them.”

Just a few weeks ago, GINA received overwhelming support in both the Senate, with a unanimous vote of approval, and the House of Representatives, where the legislation was passed by a landslide vote of 414-1. “Individuals no longer have to worry about being discriminated against on the basis of their genetic information, and with this assurance, the promise of genetic testing and disease management and prevention can be realized more fully,” stated Sharon Terry, president of the Coalition and CEO of Genetic Alliance (http://www.geneticalliance.org).  “We applaud our champions on the Hill who have worked tirelessly to pass this important legislation. It is now our responsibility to make sure the public knows that these new protections are in place.”

The health insurance protections offered by GINA are expected to roll out 12 months after the bill is signed, whereas the employment protections will be fully realized in 18 months.

“Now that GINA has been approved and signed into federal law by the President, American health care consumers and employees will no longer have to fear the adverse effects of being tested to determine their risk status for genetic diseases,”said Joann Boughman, Ph.D., executive vice president of the American Society of Human Genetics (http://www.ashg.org) and a member of the Coalition’s executive committee. “Once this legislation has taken effect, clinicians will be able to order genetic tests for patients and their families in a manner that ensures the full realization of the advantages of personalized medicine, while also easing patients’ concerns about the risk of genetic discrimination by insurance companies and employers based on this data.”

Specifically, the legislation protects against genetic discrimination by health insurers or employers by:

* Prohibiting group health insurance plans and issuers offering coverage on the group or individual market from basing eligibility determinations or adjusting premiums or contributions on the basis of an individual’s genetic information. Insurance companies cannot request, require or purchase the results of genetic tests, and they are prohibited from disclosing personal genetic information.

*  Prohibiting issuers of Medigap policies from adjusting pricing or conditioning eligibility on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.

*  Prohibiting employers from firing, refusing to hire, or otherwise discriminating with respect to compensation, terms, conditions or privileges of employment. Employers may not request, require or purchase genetic information, and they are also prohibited from disclosing personal genetic information. Similar provisions apply to employment agencies and labor organizations.

Scientists and policy developers at the Translating ELSI, Ethical Legal Social Implications of Human Genetics Research conference have been mulling over the myriad of ethical arguments over testing and storing our kids’ DNA.

The biggest driver for the advancement of genetic testing is the ‘early detection improves outcomes’ argument and if an individual is found to be at risk of a particular disease then life-long surveillance is a remedy.

However, consider the scenario that you’ve just discovered that your 9 year old daughter has a risk of developing breast and ovarian cancer and your 6 year son is at risk of early-onset Alzheimer’s.  Where do you go for advice? What can you do?

Another unique consideration is what happens to the biobank samples in the future when the child biobank donor has grown into an adult?  What is the scope of parental permission, and is it necessary to obtain consent again when a child grows up are important questions. Also, what if researchers wish to use a sample donated earlier but they are unable to locate the individual who gave the sample? Is it ethical to use these or should the sample be destroyed?

Before these situations become more common, researchers and physicians planning to develop or use genetic testing technologies and information must find ways to talk to parents who are asking questions about just what will happen with their child’s samples and genomic data.

Elaine Warburton  www.geneticsandhealth.com

Following my recent article on ethical guidelines for informed consent in genomic studies, a group of scientists met at the Translating ESLI conference in Cleveland to debate this whole ethical argument. This issue is particularly critical for genome-wide association studies and in establishing and using large biobanks.

It was universally acknowledged that consent forms are difficult to read for participants who do not have reading skills beyond middle school or high school, for example. As a result, these paticipants may be unaware of what exactly the research could mean to them.

Laura Beskow, a researcher at Duke University’s Institute for Genome Sciences and Policy worked with the Association of American Medical Colleges to start a working group on informed consent issues and what concerned participants.

Participants advised of a number of important questions that consent forms should answer regarding the use of their samples.:

1. Do the forms specify the nature of the research, and is consent for an indefinite period of time?

2. What kinds of confidentiality are participants granted, particularly in an environment of increasing large-scale genetic information-sharing for various studies?

3. Can and when particpants withdraw their specimens?

4. Will they have access to the results of particular findings related to their genetic information?

5. If participants are ever contacted by researchers wanting to use their samples for other studies, it must be crystal clear why they were contacted.

These studies present significant new challenges for consent and participation, including questions about the management and protection of personal information, the return of findings to individuals and to groups, and the potential commercial use of information and tissues that were donated for research.

Elaine Warburton www.geneticsandhealth.com

The Washington Post featured a series of thought-provoking articles in ‘The Science Century’ section of the newspaper. 

Here are some of my favourites:

The Post’s Joel Achenbach writes about how “the most important things
happening in the world today…[will] be happening in laboratories — out
of sight, inscrutable and unhyped until the very moment when they change
life as we know it.”
http://www.washingtonpost.com/wp-dyn/content/article/2008/04/11/AR2008041103328.html

Ronald M. Green, the author of “Babies by Design: The Ethics of Genetic
Choice,” asks, “Why should we think that the human genome is a
once-and-for-all-finished, untamperable product? All of the biblically
derived faiths permit human beings to improve on nature using technology,
from agriculture to aviation. Why not improve our genome? I have no doubt
that most people considering these questions for the first time are certain
that human genetic improvement is a bad idea, but I’d like to shake up that
certainty.”
http://www.washingtonpost.com/wp-dyn/content/article/2008/04/11/AR2008041103330.html

Michael Chorost, the author of “Rebuilt: How Becoming Part Computer Made Me
More Human,” writes about his experience with cochlear implants.  ”I see
myself as a precursor to a world in which people communicate with each
other, at great distances, in new ways, using implanted technologies that
feel as much a part of their bodies as their own hands. We can’t imagine
what that will be like, just as in 1978 no one could have imagined
broadcasting their activities to friends by using Twitter on a cellphone.”
http://www.washingtonpost.com/wp-dyn/content/article/2008/04/11/AR2008041103260.html

Nita Farahany considers the emergence of pre-crime detection technology.
“Imagine a world where the streets are lined with video cameras that alert
authorities to any suspicious activity. A world where police officers can
read the minds of potential criminals and arrest them before they commit
any crimes. A world in which a suspect who lies while being questioned gets
caught immediately because his brain has given him away. Though that may
sound a lot like the plot of the 2002 movie ‘Minority Report,’ starring Tom
Cruise and based on a Philip K. Dick novel, I’m not talking about science
fiction here; it turns out we’re not so far away from that world. But does
it sound like a very safe place, or a very scary one?”
http://www.washingtonpost.com/wp-dyn/content/article/2008/04/11/AR2008041103296.html

Christine Kenneally, the author of “The First Word: The Search for the
Origins of Language,”  asks whether humans are so special as a species
after all.  “For years, scientists believed that the parts of the human
brain that supported complex thought and language had only recently
evolved. The mental life of animals was treated as primitive and utterly
distinct from ours. But an explosion in animal research is showing that
many components of human thought are shared with other species.”

http://www.washingtonpost.com/wp-dyn/content/article/2008/04/11/AR2008041103329.html

And computer scientist and inventor Ray Kuzweil writes about how the
“exponential progression of information technology will affect our
prosperity.”
http://www.washingtonpost.com/wp-dyn/content/article/2008/04/11/AR2008041103326.html

Thank you to Emily at The Washington Post for bringing these articles to my attention.

Happy reading!

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

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

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 #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 penetrance genes

Navigenics #5 - Corporate or pragmatic genomics

Navigenics #7 - The barriers to success! 

Elaine Warburton  www.geneticsandhealth.com 

Icelandic company deCode Genetics has announced it has signed a Letter of Intent to offer its genetic testing products to US Preventative Medicine customers.

US Preventative Medicine is a Dallas based company. The company has developed a suite of prevention, early detection and chronic condition management products and services that improve health outcomes while reducing health care costs.  It’s products are as follows:

“The signing of the letter of intent with DeCode is significant because we will be the first entity in the US and internationally to offer a full continuum of geographically dispersed, comprehensive solutions for personalized medicine,” Christopher Fey, chairman and CEO of US Preventive Medicine, said in a statement.

Elaine Warburton www.geneticsandhealth.com

Following my recent article titled “Genetic testing - ‘recreational genomics’ or the future of diagnostics”, I queried why doctors were finding it challenging to provide their patients with adequate information on genetic testing and I questioned whether there should be increased availability of training courses to help support doctors.

On cue, a report published in JAMA concludes just that … although doctors know quite a bit about genomic medicine, it is still not being integrated into their clinical practice.  The report also argues that genomic medicine should be a part of the risk assessment and treatment of common chronic diseases such as cardiovascular disease, diabetes mellitus, and cancer.

In this systematic review, Dr Maren T. Scheuner, M.D., M.P.H. (RAND Corporation, Santa Monica, Calif.) and colleagues examined research articles and other systematic reviews from the medical literature that were published from January 2000 to February 2008 and that focused on common, chronic, adult-onset conditions. The search resulted in 68 articles that assessed four specific areas:

1. Genomic medicine outcomes
2. Information needs of consumers
3. Genomic medicine delivery
4. Challenges and barriers to integrating genomic medicine

Dr Scheuner writes “The greatest public health benefit of advances in understanding the human genome will likely occur as genomic medicine expands from its focus from rare genetic disorders to inclusion of more common chronic diseases, such as coronary heart disease, stroke, diabetes mellitus, and cancer.  With genomics discoveries relating to common chronic diseases, numerous genetic tests may emerge that hold promise for significant changes in the delivery of health care, particularly in preventive medicine and in tailoring drug treatment.”
 

Along with the noted unpreparedness of the primary care workforce, there are several other barriers to integrating genomic medicine with the traditional methods for treating and preventing common chronic diseases. “The most prominent of these include health professionals’ lack of basic knowledge about genetics and their lack of confidence in interpreting familial patterns of disease, which limits their ability to appropriately counsel their patients, order and accurately interpret genetic tests, and refer their patients for genetics consultation.” say the authors.

The report concludes by advising it will be a lost opportunity if the health services fail to keep pace with the rapid basic science advances and clinical discoveries.

For further information on the report, click on:

http://jama.ama-assn.org/cgi/content/abstract/299/11/1320

Elaine Warburton  www.geneticsandhealth.com