Monday, May 19, 2008

The DNA Network

The DNA Network

Scientist, GSOH. Seeks Similar. [Bitesize Bio]

Posted: 19 May 2008 07:41 PM CDT

You know what it’s like. You’re committed to your career, you work long hours so you don’t get to socialise as much as you needed to meet that special someone.

And those people you do meet wouldn’t know their a-factor from their elbow.

So what options are there for the lonely scientist who wants to find someone with whom they can share their copy of Molecular Biology of The Cell?

Well, the Scientist magazine has a scientists-only dating service called Science Connection that can help with that very mission. According to their website:

“The world is a crowded petri dish, and yet for those of an intellectual bent who happen to be single, it’s not easy to find that certain person for a great symbiotic relationship. Enter Science Connection.”

Being scientists we of course need some statistics on how successful this service is and Science Connection duly provides. Their up-to-the-minute stats boast 87 marriages, 69 engagements, 274 “serious relationships” and 303 dating couples out of 15,031 individuals who have joined the service since it began.

Membership fees are only $65/year…  a small price to pay to find the scientist of your dreams?

Photo: estherase

Jeffrey Sachs on our ever diminishing resources [The Daily Transcript]

Posted: 19 May 2008 06:08 PM CDT

I heard Sachs being interviewed in the latest Nature Podcast.

Oliver Morton: I think one of the striking things, Jeff that you say very early on in [your new book, 'Commonwealth: Economics for a Crowded Planet'] is that the great crisis point is that we have a unified global economy and a divided global society and well as the big question is how can we use the first of those things to fix the second?

Jeffrey Sachs: I think the key is better understanding of the unique situation we find ourselves in. The world is now so crowded. The extent of resource use is so remarkable and unprecedented that we are putting pressures on the physical environment and on each other in ways that have never occurred before at this scale. Of course, the point of the book is to say if we don't understand the mechanisms of what we are doing and then address them, the consequences will be dire, at the same time, the very technological prowess that allows us to have the 70 trillion dollar world economy also allows us to find correctives to the problems that we are creating and so I believe that there is a way out that is not dire. This is not an end of the world book, it's only a warning that we have to change course.

Oliver Morton: It is noticeable that in the period from I suppose the early 1980s onwards, research and development in both agriculture and some of them, I think will come onto energy stagnated quite dramatically. Why do you think that was and do you think we will have a realistic chance now of turning that around.

Jeffrey Sachs: I think that there is stagnation in two senses. One is the overall levels of funding tended to go down, but perhaps even more pertinently funding of government fell precipitously, so the public sector funding went down. Why is this? Well there were temporal issues like the temporary decline of oil prices; it seems like a long time ago, but in the 1980s and early 1990s oil prices were low. People said, "Let's go back to fossil fuels" and they forgot all about the overall global need to develop alternative energy resources, so that was very short sighted. There also was a very mistaken privatization of science that took place in these applied areas, where it was said, let the private sector do it, let private sector run ahead on agro-biotechnology, let the private sector invest in energy, we don't really need government to do it, and this is a huge mistake.

P.S. Sb's own PZ Myers is also interviewed in the same podcast on the inner workings of the cephalopod eye.

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Webcast on genomic medicine on Wednesday, the 21st. [Synthesis]

Posted: 19 May 2008 03:51 PM CDT

Steve Murphy has asked the Network, of which I’m a member, to put out the word about the webcast on Wednesday. The title is “How Genomic Medicine Is Changing the Management of Breast & Ovarian Cancer” and the link is here. Tune in around 1 PM EDT to hear a panel of experts discuss such questions as:

What should a doctor and patient do when a patient tests positive?
What is the risk in taking a "wait and see" approach?
Are there alternatives to radical surgery?
What are potential tort issues in predictive genetic and medical uses of
genetic tests?

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Online Doctors or Pizza? [ScienceRoll]

Posted: 19 May 2008 03:20 PM CDT


After writing about some medical online services, I came across this interesting link on the blog of Jay Parkinson.

What ordering pizza will be like in the future…

It’s more than funny!

This posting includes an audio/video/photo media file: Download Now

Google Health: The First Steps [ScienceRoll]

Posted: 19 May 2008 03:15 PM CDT


We’ve been all waiting for this for a long time now. Google Health is officially up and running. It aims to play the main role in the electronic/personal health record story. What is it about?

Google Health allows you to store and manage all of your health information in one central place. And it’s completely free. All you need to get started is a Google username and password.

Google believes that you own your medical records and should have easy access to them. The way we see it, it’s your information; why shouldn’t you control it?

  • Keep your doctors up-to-date
  • Stop filling out the same paperwork every time you see a new doctor
  • Avoid getting the same lab tests done over and over again because your doctor cannot get copies of your latest results
  • Don’t lose your medical records because of a move, change in jobs or health insurance

Let’s create your health profile and tell us your opinion!

Anyway, when I write an e-mail in Google Mail, I get some relevant ads on the sidebar. I hope I will never get pharma ads or spams from doctors based on my Google Health profile…

Further reading:

The First Report Card for Genome Wide Association Studies [adaptivecomplexity's column]

Posted: 19 May 2008 03:01 PM CDT

Genome-wide association studies are the hottest thing in human genetics right now, but how well do they work? The idea is to look at genetic variants in hundreds or thousands of patients with a particular disease, as well as a healthy control population. Genetic variants that show up in the patient population more often than in the control population are said to be associated with the disease, although how these variants contribute to the disease requires much more detailed follow-up.

ZS Genetics Inc makes a bid for the X price [Next Generation Sequencing]

Posted: 19 May 2008 02:40 PM CDT

An article in the MIT Technology Review recently made me aware that ZS Genetics has entered the contest for the Archon X price for Genomics (100 human genomes in 10 days). ZS Genetics are developing a unique approach to DNA sequencing based on electron microscopy of labeled DNA strands. The technology can potentially sequence very long [...]

If you think you understand evolution... [T Ryan Gregory's column]

Posted: 19 May 2008 02:07 PM CDT

"If you think you understand [evolution], you don't know nearly enough about it."

Coolest body hack you'll see today [Bayblab]

Posted: 19 May 2008 12:01 PM CDT

Your personal health: Google Health is live [business|bytes|genes|molecules]

Posted: 19 May 2008 12:00 PM CDT

I have an account, so it better be, or that is one good phishing scheme. Just kidding of course. Techmeme is all over this piece of news. The service launches with a familiar “googl-ey” look and feel to it, one that I like.

Google Health screenshot #1

The service does not come across looking too bloated either. Right now, it is a simple Personalized Health Record with a catalog of items that can be added, e.g. procedures, medications, etc

Google Health Screenshot #2

You also have the ability to import information from a number of services (and Google has collected an impressive list)

Personal health services

In addition you can link your profile to a number of websites as well (e.g. The Cleveland Clinics MyConsult program). There are some interesting design choices as well. A search result opens in a new window/tab, as does clicking “read about health topics”.

That’s a quick synopsis (I haven’t given the site a full test yet). I can see it evolving into partner relationships with other sites (23andme, PatientsLikeMe are obvious ones).

But there are some concerns as well. I agree with a lot of what Larry Dignan had to say about the ToS, esp the lack of HIPAA protection. I also really wish there was an export option somewhere (I couldn’t find one).

In the long term, the PHR ecosystem will mature, with Microsoft and Google both playing key roles, perhaps as personal aggregators, with other specialized services providing domain specific information. There is a lot of trust that needs to be gained here, so Google has to be careful. I will re-iterate my own feelings on this issue. I trust Google with my info a lot more than the government or a health care system.

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Joshua Lederberg Papers on the Web (well, most of them) [The Tree of Life]

Posted: 19 May 2008 09:27 AM CDT

As a follow up to my previous post about a symposium in honor of Josh Lederberg that is coming up in Washington on Tuesday. There is a nice collection of his "papers" on the web - Profiles in Science: The Joshua Lederberg Papers

By papers they mean everything - letters, notes, drafts, communications, etc.  It is quite comprehensive and quite interesting including many discussions with other leading researchers key moments in the history of 20th century biological sciences research.  It is worth checking out.  I note - despite the availability of this great collection, one part of this life as a scientists is not completely freely available - his publications.  Not all are at this site and many are hidden behind the walls of various journals.  What a shame.  Just about every one of his papers is worth reading.

BRCA Webcast Sherpas Repost [The Gene Sherpa: Personalized Medicine and You]

Posted: 19 May 2008 08:51 AM CDT

I vowed I would never post when family took precedence. I have to break that vow again today. I wish I didn't but there is something so vitally important that I must share with you. Why is this...

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Bonne fete des Patriotes [The Daily Transcript]

Posted: 19 May 2008 08:22 AM CDT

This weekend I was back up in Montreal for my brother's wedding. It was actually held in St Antoine sur-le-Richelieu, a little picturesque town east of the city. This hamlet was also the site of a famous battle between the Brits and the local heroes, Les Patriotes.

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Recycling Science [Sciencebase Science Blog]

Posted: 19 May 2008 07:00 AM CDT

Oleg Shpyrko speckleMy Alchemist column on ChemWeb is live once again: This week’s award is for science that sheds light on a range of physical phenomena including liquid-metal surfaces and condensed matter. The recipient of the award, Oleg Shpyrko of the University of California San Diego, will receive the 2008 Rosalind Franklin Young Investigator Award from Argonne National Laboratory. I asked him what the award means to him:

“It is a great honor to have my research recognized in this way but credit should be shared between all of my collaborators, especially the Advanced Photon Source beamline scientists without whom the research simply would not be possible. What makes the APS a truly world-class facility is not just its unique X-ray beam characteristics, but also the outstanding group of scientists working here. The synergy between the users and APS scientists is an absolutely crucial component for the cutting-edge research performed there.”

Meanwhile, in straight chemistry news, nanotubes are feeling the heat of chilies and while analysts are musing on the lack of psychedelics in artists’ tipple absinthe. Also, this week, X-ray studies are helping in the redesign of novel anticancer compounds, while a connection the great British seaside holiday, kelp and iodine as an oxidant is revealed. Finally, plastic lasers could open the door for a new range of spectroscopic and medical diagnostics instrumentation. Get the full alchemical news here.

You may also be interested in science news with a spectroscopic bent where I report on how recycling old computers and electronics can be used to make a new type of feedstock oil for the petrochemical industry.

Recycling of a different kind in which parts from a CD-ROM drive have been scavenged for another purpose could help bring quick and inexpensive DNA diagnostics to the poorer parts of the world. More on that here.

A post from David Bradley Science Writer

Recycling Science

Building Science in a Small Country [Bitesize Bio]

Posted: 19 May 2008 06:51 AM CDT

I’ve been in a small European country (Cyprus) now for about five months, and recently spent a whole lot of time preparing grant applications to the national Research Promotion Foundation (RPF) here. Some observations:

First off, there’s a lot of chaos in trying to build a research community from scratch in a matter of 5-10 years - a decade ago, there was no academic research in the natural sciences to speak of. And since they’re doing this all for only the first or second time, there are plenty of mistakes that it appears the RPF has made along the way with regards to the grant application process.

That’s understandable in the long-run, but for the researchers who depend upon such funding for their jobs, it is agonizing to think that a minor overlooked detail could arbitrarily disqualify them from funding and have their application thrown out. And researchers here really need RPF funding, because they’re generally not able to be competitive yet with some of the institutes across the rest of the EU, which have much more experience. It’s such a young research community here.

Second, grad school here is a bit different. Probably because it is such a young research community here, the research departments don’t guarantee funding to the grad students. From what I’ve seen, they have to have successful funding requests to stay in grad school, just as postdocs like myself have to be successful in the same way to stay in academia.

This is a big departure from the department that I did my predoctoral work in, where my PI ensured that I was funded for the necessary length of time, and I could just go get work done. That, for me, made it easier of course, but it also left me with less experience writing grant applications than I would have had in this setting. So while here the grad student’s may be cut out of academia before they even start their career, my impression is that those who make it through will be better prepared for competing after their dissertation.

But those are just some observations, and I’m still very much a neophyte in this area…

Photo: Anders R. Naesset

HIV infection stems from few viruses [Think Gene]

Posted: 19 May 2008 02:03 AM CDT

A new study reveals the genetic identity of human immunodeficiency virus (HIV), the version responsible for sexual transmission, in unprecedented detail.

The finding provides important clues in the ongoing search for an effective HIV/AIDS vaccine, said researchers at the University of Alabama at Birmingham (UAB). The UAB team found that among billions of HIV variants only a few lead to sexual transmission.

Earlier studies have shown that a 'bottleneck' effect occurs where few versions of the virus lead to infection while many variants are present in the blood. The UAB study is the first to use genetic analysis and mathematical modeling to identify precisely those viruses responsible for HIV transmission.

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

"We can now identify unambiguously those viruses that are responsible for sexual transmission of HIV-1. For the first time we can see clearly the face of the enemy," said Shaw, a project leader with the Center for HIV/AIDS Vaccine Immunology. The center is a National Institutes of Health-sponsored consortium of researchers at UAB, Harvard Medical School in Boston, Oxford University in England, the University of North Carolina in Chapel Hill and Duke University in Durham, N.C.

The new HIV-1 findings are published online in the Proceedings of the National Academy of Sciences.

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

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

"Previously, researchers employed inexact methodologies that prevented precise identification of the virus that initiated infection," said Brandon Keele, Ph.D., an instructor in UAB's Department of Medicine and lead study investigator. "Our findings allow us to identify not only the transmitted virus, but also viruses that evolve from it."

The UAB team said their work would lead to new research on how different HIV genes and proteins work together to make a virus biologically fit for transmission and for growth in the face of mounting immunity.

Statistics show that while the worldwide percentage of people infected with HIV has leveled off, the total number HIV cases is rising. In 2007, 33.2 million people were estimated to be living with HIV, 2.5 million people became newly infected and 2.1 million people died from AIDS, according to the Joint United Nations Programme on HIV/AIDS (UNAIDS) and the World Health Organization.

Source: University of Alabama at Birmingham

Josh says:

I never would have suspected that one variant of the virus is what causes the infection. The original paper is not yet available, but it sounds as though an individual may get infected with various strains of HIV, but then usually only one of them takes hold. I wonder why that’s the case…

A Four-Part Series About Personal Genomics at Condé Nast Portfolio - Are Genetic Tests Really Useful? [The Genetic Genealogist]

Posted: 19 May 2008 02:00 AM CDT

iStock_000004876214XSmall Portfolio presents an interesting four-part series by David Ewing Duncan about personal genomics. But before I go on, it is important to realize that this series focuses on personal genomics - analysis of SNPs or sequencing throughout the genome - rather than the much narrower field of genetic genealogy. Although there are some ethical concerns surrounding genetic genealogy, they are not specifically addressed in the series.

Portfolio’s public relations coordinator circulated a summary of the series (I wish I had a PR coordinator!):

In Portfolio.com columnist David Ewing Duncan's four-part series, "You 2.0," he assess and compares three major websites recently launched that test a person's DNA for risk-factors for everything from Alzheimer's Disease and heart attack to drug addiction, an ability to taste bitterness, and ancestry. Is this information ready for prime time? Can it really predict a healthy person's medical future? Duncan has been tested by 23andme, deCodeme, and Navigenics, and reports on his sometime contradictory and confusing, sometimes funny, and occasionally enlightening results gleaned from these controversial sites that are attempting to bring genetics directly to the people.

Here are the four parts:

  1. You 2.0: Comparison Shopping For Your Future
  2. You 2.0: I’m Doomed. Or Not.
  3. You 2.0: Recreational DNA and Genetic Voyeurism
  4. You 2.0: Closing the Genetic Gap

Look for David’s Book Later This Summer

According to his website, Duncan is writing a book entitled Experimental Man: One Man's Intimate Journey Into Himself, Cell by Cell (although I’ve also seen it written as Experimental Man: A Molecular Autobiography) which is due to be available in late summer 2008. The book “describes and assesses a wide-range of leading-edge diagnostic tests that David has taken, from genes and environmental toxins inside him to brain scans assessing everything from his propensity to suffer from Alzheimer's Disease to the politics of his brain. He is running these tests as an Everyman in an attempt to understand and humanize the often eye-glazing science that is about to change our world.” The Experimental Man Power Point Presentation is already available.

Sounds very interesting!

HT: The Gene Sherpa

Novel enzyme inhibitor paves way for new cancer drug [Think Gene]

Posted: 19 May 2008 01:56 AM CDT

Combining natural organic atoms with metal complexes, scientists at The Wistar Institute have developed a new type of enzyme inhibitor capable of blocking a biochemical pathway that plays a key role in cancer development.

Based on studies in human melanoma cells, the research paves the way for developing new ways to treat cancer by dampening the overactive enzyme activity that leads to uncontrolled tumor growth.

Details of the study, to be published in the May 16 issue of the journal ACS Chemical Biology, show how small-molecule inhibitors can be designed to target a family of signaling proteins, called phosphatidyl-inositol-3-kinases, or PI3Ks.

"The PI3K pathway has been called the most mutated pathway in human cancer," says Ronen Marmorstein, Ph.D., a professor in the Gene Expression and Regulation Program at Wistar and senior author of the study.

PI3Ks are a family of lipid kinases – enzymes that transfer a phosphate group to an important signaling molecule in the cell called a lipid. They play a key role in a wide range of cellular functions, including cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. Lipid kinases also drive cell division by modifying fatty acid molecules and directing cells to grow, change shape and move.

Kinases have been the focus of drug development strategies for years, with some protein kinase-inhibiting compounds, such as Gleevec, already being used clinically to inhibit tumor growth. Though pharmaceutical companies have a keen interest in developing similar types of inhibitors for lipid kinases, targeting these enzymes remains a challenge.

The problem is, the drugs often lack specificity, Marmorstein says. Such broad-spectrum compounds, which inhibit many different but related kinases, inevitably cause side effects and are therefore poor drug candidates. For these reasons, none of the PI3K-inhibitors developed to date have proven useful as therapeutic agents, he says.

To overcome this hurdle and develop an inhibitor with greater specificity, and therefore greater potential as a drug candidate, Marmorstein and his colleagues set out to create a lipid kinase inhibitor using a metal complex in its structure.

Though most protein inhibitors are created using purely organic atoms—such as carbon, nitrogen, oxygen and sulfur—adding a metal to the mix allows one to create compounds that are otherwise impossible to make with a purely organic toolbox, Marmorstein says.

"The metal not only lends a structural support to the inhibitor but also provides the ability to form and accept a wider range of ligands, or chemical building blocks, to increase kinase selectivity," he says.

Working with Eric Meggers of the University of Pennsylvania (now at the Philipps-Universtat Marburg in Germany), who has developed organometallic enzyme inhibitors for other types of kinases, the scientists combined traditional organic compounds with the metal Ruthenium to create a novel scaffold, the platform on which the inhibitor was constructed.

After screening a general organometallic library of compounds designed by Meggers to identify potential agents to inhibit PI3K, the scientists identified a protein kinase inhibitor known as DW2.

The scientists then used X-ray crystallography to determine the three-dimensional structure of PI3K bound to DW2, using the structure as a "starting point" to fashion more effective PI3K inhibitors.

Based on what they had observed in their structural studies, the scientists were able to make several changes to the inhibitor to prepare a more potent and selective agent, Marmorstein says.

To determine how well their new inhibitor, called E5, could selectively target PI3K lipid kinases, the researchers tested the agent on five different human protein kinases representing four kinase families. The study showed E5 selectively targeted the PI3K lipid kinases.

In collaboration with Meenhard Herlyn, D.V.M., D.Sc., at the Wistar Institute, the Marmorstein group then tested the effectiveness of the agent using melanoma cell cultures. Melanoma was used as a model system for the study because the signaling pathway regulated by PI3K is highly mutated in melanoma, Marmorstein says.

In addition to PI3K, the PI3K signaling pathway includes another kinase called AKT, and a phosphatase, PTEN, which serves as a tumor suppressor.

"What you will often find is that one of those three proteins, and sometimes others, are mutated in cancer," Marmorstein says.

Studies with human melanoma cells showed that E5 blocked AKT activity, thereby inhibiting the growth of cells. Further studies in 3D cultures of melanoma cells showed the agent also prevented melanoma cell invasion.

"What we've shown is that our inhibitor can find the kinase that it's designed to inhibit without inhibiting other kinases, which could produce unwanted side effects," he says.

Marmorstein says the group plans to improve upon the E5 compound by creating organometallic inhibitors that target other isoforms, or types, of PI3K. The PI3K family of kinases includes four types: alpha, beta, delta and gamma. Each type is associated with particular biological pathways and performs various functions in the cell.

Though some of the PI3K types are associated with cancer, others are not. The trick to building inhibitors with low side effects and toxicity is to create inhibitors that knock out the troublesome isoforms without disrupting the other types, Marmorstein says.

Source: The Wistar Institute

Structure-Based Design of an Organoruthenium Phosphatidyl-inositol-3-kinase Inhibitor Reveals a Switch Governing Lipid Kinase Potency and Selectivity. Peng Xie, Douglas S. Williams, G. Ekin Atilla-Gokcumen, Leslie Milk, Min Xiao, Keiran S. M. Smalley, Meenhard Herlyn, Eric Meggers, and Ronen Marmorstein. ACS Chem. Biol., 3 (5), 305–316  10.1021/cb800039y

Josh says:

I really hope that this type of technique works for inhibitors of other molecules. The key to new medicines and drugs is for them to become more specific, which will lead to fewer side effects and allow them to be more effective.

New Mount Sinai research tracks effects of addictive drugs on brain [Think Gene]

Posted: 19 May 2008 01:43 AM CDT

Mount Sinai researchers may have unlocked the key to better understanding the effect addictive drugs have on the human brain. Researchers have just published the new breakthrough study, "Design Logic of a Cannabinoid Receptor Signaling Network that Triggers Neurite Outgrowth," in the latest issue of Science on May 16th, 2008.

"The research findings give us a new window into the brain, helping us to better understand the role addictive drugs have on the inner workings of brain cells ," said Ravi Iyengar Ph.D., study author and Dorothy H. and Lewis Rosenstiel Professor and Chair, Department of Pharmacology and Systems Therapeutics at Mount Sinai School of Medicine. "This type of research provides may clues for targets within brain cells against which drugs that block addiction may be targeted."

Mount Sinai researchers looked at the systems biology approach in order to study molecular networks underlying addiction. The findings start to unravel the complex interactions within brain cells, which are involved in processing signals from receptors in the brain that recognize the addictive drugs. Researchers discovered that a drug that works through the cannabinoid 1 receptor recognizing the active ingredient of marijuana activates many different transcription factors, triggering the differentiation of neurons, causing permanent changes in a person's brain. Another result of study was the discovery of a new role of the breast cancer gene BRCA 1 in neuronal differentiation and the effects of addictive drugs upon them.

Source: The Mount Sinai Hospital / Mount Sinai School of Medicine

Design Logic of a Cannabinoid Receptor Signaling Network That Triggers Neurite Outgrowth. Kenneth D. Bromberg, Avi Ma’ayan, Susana R. Neves, and Ravi Iyengar. Science 16 May 2008: 903-909.

Josh says:

What I find surprising in this is that the drugs appearently cause permanent changes by inducing differentiation. I always thought it would simply change some gene expression patterns.

The PCR song [Bitesize Bio]

Posted: 19 May 2008 12:43 AM CDT

Animated DNA replication [Bitesize Bio]

Posted: 19 May 2008 12:24 AM CDT

Genomic Medicine: An Educational Resource from Helix Health [Highlight HEALTH]

Posted: 19 May 2008 12:23 AM CDT

The Human Genome Project has heralded a new era in our understanding of the molecular basis of disease. Genome-based medicine or personalized medicine is believed to be the future of healthcare. Indeed, genomic medicine is poised to improve disease diagnosis, therapy and prevention.

Although genomics is related to genetics, there is a difference between the two terms. Genetics is the study of single genes and their effects. In contrast, genomics is the study of all the genes in the genome and the interactions among them and their environment. Genetics uses the information from one or two genes to describe a disease state, whereas genomics examines all genetic information to determine biological markers predisposing a person to disease. Genomics is especially relevant for complex or multifactoral disorders such as cancer, Parkinson’s disease, heart disease and diabetes, which are due to the interaction of multiple genes and environmental factors [1].

DNA Sequence
Creative Commons License photo credit: pinkbelt

With the sequencing of the human genome and the development of genomic technologies, medicine is entering a transition period whereby specific genetic knowledge will be critical for the delivery of effective healthcare. Many questions surround the state of this transition. A recent systematic review published in the Journal of the American Medical Association attempted to synthesize peer-reviewed published information on the delivery of genomic medicine for common adult-onset chronic diseases such as cancer, diabetes and coronary heart disease [2]. While advances in genetics and genomics have been extensive, the review found a large disparity between what is known and what is needed by healthcare professionals [2]:

Our systematic review reveals a large gap between what knowledge is available and what health systems still need to know about the outcomes, consumer needs, organization of health services, and barriers, to ensure appropriate and effective clinical integration of genomic information and technologies for common chronic disease.

Dr. Steve Murphy frequently discusses this disparity at Gene Sherpas: Personalized Medicine and You. Steve is also the founder of Helix Health, the country’s first stand-alone genomic medicine practice.

To educate and promote personalized medicine, Steve has announced that Helix Health will host at minimum monthly podcasts on a variety of topics.

The first event is a free 90-minute webcast titled “How Genomic Medicine is Changing the Management of Breast & Ovarian Cancer.” The webcast is scheduled for this Wednesday, May 21st, from 1:00 — 2:30 pm EDT [3].

The webcast will feature David Ewing Duncan, bestselling author of Masterminds: Genius, DNA and the Quest to Rewrite Life and Chief Correspondent and co-host of National Public Radio's "Biotech Nation", a panel of distinguished medical and legal professionals, and Jessica Queller, author of Pretty Is What Changes: Impossible Choices, The Breast Cancer Gene, and How I Defied My Destiny.

The group will discuss how the doctor-patient relationship is changing and what the potential liability is for physicians in this transition period for genomic medicine and breast & ovarian cancer.

  • What should a doctor and patient do when a patient tests positive?
  • What is the risk in taking a “wait and see” approach?
  • Are there alternatives to radical surgery?
  • What are potential tort issues in predictive genetic testing and medical uses of
    genetic tests?

To register for the free webcast, point your browser here: http://event.netbriefings.com/event/helixhealth/register.html

For more information, contact info@helixhealth.org or visit Helix Health.

Additional resources can be found in the Personalized Medicine category of the Highlight HEALTH Web Directory.

The Helix Health webcast should be very informative. I anticipate an interesting discussion on genetic testing, genomic medicine and breast & ovarian cancer, and encourage everyone to register and listen in this Wednesday, May 21st.

Resources

  1. Guttmacher and Collins. Genomic medicine — a primer. N Engl J Med. 2002 Nov 7;347(19):1512-20.
    View abstract
  2. Scheuner et al. Delivery of genomic medicine for common chronic adult diseases: a systematic review. JAMA. 2008 Mar 19;299(11):1320-34.
    View abstract
  3. How Genomic Medicine Is Changing the Management of Breast & Ovarian Cancer. Helix Health Press Release. 2008 May 16.
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