Gene Genie #39: Personal genomics, health and evolution
October 26, 2008 by Grace Ibay
Filed under Human Genome and Sequencing, Personalized Medicine
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Welcome to the 39th edition of Gene Genie, the carnival of clinical genetics and personalized medicine.
Personalized genomics are all over the news lately, so let’s jump right and see what’s going on.
Personalized Genetics
The financial troubles of deCODE Genetics continue to grow following the massive layout last March. Eye on DNA touches on the (im)practicality of genetic testing during recessions.
Genome Alberta joins the enthusiastic PG crowd when Mike Spear showed his own genetic test results at a student conference.
Gene Sherpas take a swipe at 23andMe for allowing genetic data to be used to make medical decision.’
It’s not only personalized genomes that are becoming public. The Daily Scan features Her2 testing errors, a venue where a woman can publicly share and ask about her medical diagnosis and pathology. Is this a good thing?
Science Roll features quick links to the latest train ride that is personalized genetics. One interesting link is the lecture video on the definition of "genomic revolution".
Remember the other genetics?
Rare genetic disorders don’t get as much face-time as the ones that affect more people, such as cancers or downs syndrome. We don’t even know they exist unless you’re studying them for research or school. Nevertheless, they are very real to those involved. Human Genetics Disorders put a face to Von Hippel-Lindau Disease (VHL), a multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis).
The genetics of congenital heart disease gets major funding with a 6-year $25M NHLBI-led collaborative genomics. The consortium is looking for research centers to perform clinical and translational studies on the diseases. Interested scientists can check out the PHG Foundation for a list of research focal points included in the grant.
Our understanding of male pattern baldness broadens with recent findings that associate chromosome 20 to hair loss, a disorder that traditionally has been known as sex-linked. Eye on DNA also mentions that hair loss increases the risk for cardiovascular disease.
The Tumor Sequencing Project has created comprehensive maps of the genetic changes that underlie cancer formation. Are the results going ‘towards a cure for cancer’? Find out more at Genetic Future.
Are people with autism genius? New evidence is found that autism is associated with intellectual skills, but Genetics and Health thinks it may be genetic or a common environment/upbringing.
Sandwalk’s Larry Moran says he’s related to Marcus Antonius (The Mark Antony 83 BC). How is that possible? A genetic map of Europe, gene flow and big league names of the ancient kingdoms dropped here and there.
The Medical Quack sums up new findings that the human rhinovirus (HRV) can hijack genes of the immune response and causes the most annoying cold symptoms.
Genome-wide association using SNPs showed evidence for genetic variation in European populations that were considered homogeneous and isolated, as reported in the PLoS recently.
Thanks for participating in this edition of Gene Genie! We have no host yet for the Big 4-0 so if you want to pitch in, check out the hosting guidelines, and/or submit your posts at the blog carnival.
Logo from Ricardo Vidal of My Biotech Life
Leukemia - risk of which patients could relapse, identified
May 4, 2008 by Elaine
Filed under Cells and Chromosomes, General Genetics and Health, Genetic Diseases and Conditions, Personalized Medicine
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(Photo courtesy www.leukemia101.com)
Researchers at the Ohio State University Comprehensive Cancer Center may have discovered a better way to distinguish acute leukemia patients who require aggressive treatment to prevent recurrence from those who need only standard therapy for cure.
About 13,300 new cases of AML and 8,200 deaths from the disease are expected this year in the United States.
In about half of cases, patients’ leukemia cells have chromosome changes that help doctors determine whether standard therapy will suffice to prevent recurrence, or whether the individual needs aggressive treatment such as a stem-cell transplant or an experimental therapy.
The remaining patients have leukemia cells with chromosomes that look normal. Determining the best therapy for these individuals is much more difficult.
Researchers say that changes in levels of microRNAs, tiny molecules used by cells to help control the kinds and amount of proteins they make, might predict the risk of relapse in many adults diagnosed with acute myeloid leukemia (AML). All patients in the study had leukemia cells with normal-looking chromosomes.
The research also shows that the microRNAs involved in these AML patients regulate genes involved in inflammation and immune responses, providing new insights into possible causes of the disease and providing researchers witn an opportunity to personalize treatment.
For further information, click on the following link:
http://medicalcenter.osu.edu/mediaroom/press/article.cfm?ID=3928
Elaine Warburton www.geneticsandhealth.com
“The Science Century” from The Washington Post
April 14, 2008 by Elaine
Filed under General Genetics and Health, Genetic Future, Genetic Testing, Genetic information and education, Personalized Medicine
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
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
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
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
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
And computer scientist and inventor Ray Kuzweil writes about how the
“exponential progression of information technology will affect our
prosperity.”
http://www.washingtonpost.com
Thank you to Emily at The Washington Post for bringing these articles to my attention.
Happy reading!
Elaine Warburton www.geneticsandhealth.com
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 #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.
Johns Hopkins recommends pharmacogenetic tests need more oversight
April 6, 2008 by Elaine
Filed under General Genetics and Health, Genetic Testing, Genetics of Drug Response, Personalized Medicine
(Courtesy: BSIP VEM/Science Photo Library)
Researchers from the Genetics and Public Policy Center at Johns Hopkins University are suggesting some companies are using misleading claims to push tests that have limited clinical validation — something they say may ultimately hurt the pharmacogenetics field. They recommend that this type of testing needs more oversight and are calling for more regulation of the pharmacogenetic testing industry. For example, they noted, the US Food and Drug Administration doesn’t regulate most laboratory-developed tests, though clinical laboratories are certified under the Clinical Laboratory Improvement Amendment (CLIA).
In particular, they focused on tests for genetic variants in CYP450 genes. These genes code for enzymes involved in the metabolism of many drugs, including selective serotonin re-uptake inhibitors (SSRIs). Because of this relationship, there has been a great deal of interest in using CYP450 variants to predict drug treatment responses, especially for SSRIs.
And while there certainly has been a lot of research to identify variants of potential interest in disease risk or treatment, “finding the variants is only part of the story,” author Gail Javitt advises. She adds “There is no mechanism to ensure that genetic tests are supported by adequate evidence before they are marketed or the marketing claims for such tests are truthful and not misleading.”
Some of those offering pharmacogenetic tests have already refuted the claim. They argue that where scientific data is available to support pharmacogenetic tests, individuals should be free to learn their genotype and how it might affect their response to drugs and other treatments.
Elaine Warburton www.geneticsandhealth.com
Smokers and ex-smokers - lung cancer gene identified
April 4, 2008 by Elaine
Filed under Cancers, General Genetics and Health, Genetic Epidemiology, Genetic risk
A research team comprising scientists from MD Anderson, Johns Hopkins University and the Insitutute for Cancer Research and the University of Cambridge, UK have identified two inherited genetic variations (SNPs) on chromosome 15 associated with increased risk of lung cancer for smokers and former smokers. Individuals who have ever smoked and who have one or two copies of either of these SNPs have increased risks ranging from 28% to 81% of developing lung cancer.
The findings are a major step forward in identifying those at high risk for non-small cell lung cancer and for understanding how smoking and genetic factors interact to cause the disease. The team’s findings might also provide support for a growing body of evidence suggesting that nicotine, long known as the prime addictive compound in cigarettes, might also play a direct causative role in the development of lung cancer.
The research team conducted a series of genome-wide association studies, first genotyping 317,498 different SNPs from 1,154 smokers who had lung cancer and 1,137 smokers without lung cancer. They then analyzed the top 10 SNPs in an additional cohort of Amercian patients and replicated the research in a cohort of 5,075 DNA samples from UK smokers with and without lung cancer and narrowed the SNPs down to two variations.
Two of the 10 SNPs were consistently associated with lung cancer risk and both of them are located in chromosome 15 inside a region that contains genes for the nicotinic acetylcholine receptor alpha subunits 3 and 5, which already are suspected to play a role in lung cancer progression.
The research team then wondered if these genetic associations relate to nicotine dependence, and found that the same two SNPs also are weakly associated with smoking behavior.
The genetic variations might help identify smokers at higher lung cancer risk who would be the best candidates for regular screening.
The study was predominantly undertaken on a Caucasian cohort to eliminate ethnic variation. A similar genome-wide study of African-American smokers is planned.
“The power of genome-wide analysis is to look at many markers and many samples at once, which can reveal weak genetic associations in complex diseases like lung cancer.”says Kimberly Doheny, Ph.D., assistant director of the Center for Inherited Disease Research at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins.
Elaine Warburton www.geneticsandhealth.com
deCode teams with US Preventative Medicine
April 3, 2008 by Elaine
Filed under General Genetics and Health, Genetic Testing, Genetic information and education, Genetic risk, Personalized Medicine
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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
Genetic testing radio interview on Diana Rehm show
April 3, 2008 by Elaine
Filed under General Genetics and Health, Genetic Diseases and Conditions, Genetic Testing, Genetic risk, Interviews, Polls, Podcasts, Personalized Medicine
(Courtesy of WAMU 88.5 FM American University Radio, Washington, USA)
This is a really interesting radio clip from The Diana Rehm Show on WAMU radio on the whole issue of personal genetics.
http://wamu.org/programs/dr/08/04/01.php#20091 and click on either the real audio or windows media buttons
“A growing number of people are turning to personalized genetic testing to learn about possible predisposition to some diseases, inherited behavioral traits, and clues to their family heritage. We’ll talk about what these tests can tell us and some of the new questions they raise.”
Guests
Dr. Francis Collins, director of the National Human Genome Research Institute
Beth Peshkin, senior genetics counselor, Lombardi Comprehensive Cancer Center, Georgetown University Medical Center
Linda Avey, co-founder, 23andMe, a personalized genetic testing company
Dr. George Church, professor of genetics at Harvard Medical School and director of the Center for Computational Genetics
Elaine Warburton www.geneticsandhealth.com
