Archive for the 'Genetic Future' category

Detecting Cancer Through Music

Music and cancer do not go together, and I mean that in the context of this new technology:

A project at Harvard Medical School created a program to translate the signals from cells into musical notes. Normal signals will sound harmonious, abnormal signals like those coming from cancer cells will sound awful.

Listen to this –

 

 

Using date from a pre-existing colon cancer study, bioinformatician Gil Alterovitz and his team created a program that transforms complex genomic information into musical notes, so that abnormal data will sound discordant.

“When things go awry, such as in the case of p53-null mutant colon cancer cells under inflammatory stress conditions, gene expression varies slightly, and inharmonious chord progressions result. Listening to the results — a symphony of electronic harpsichords, recorders, flutes, and oboes — tells the story. (via The Scientist)

Cool isn’t it? The program has been so successful that Alterovitz has been contacted by the US Navy for monitoring sonar signals, and Verizon (the phone company) for keeping track of their complicated networks!

Post from: Genetics & Health


Genomic Medicine Institute: Bringing genomics to community patients

In recent years, more and more genetic tests and therapies have become available for patients, physicians and the interested individual. But how does one know which tests to take or are appropriate for one’s condition? And what do we do after we have the test results on our hands? Can our physician help us?

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Image: Newscom

This March, the Genomic Medicine Institute was launched at El Camino Hospital in Monterey, California in response to the emerging opportunities and challenges that the genomic era has introduced. El Camino partnered with DNA Direct to become the first community hospital to integrate genomic medical services into its routine healthcare and provide El Camino physicians and their patients with access to leading edge genomic-based technologies.

I had the pleasure of talking with ECH Vice President and GMI sponsor Jon Friedenberg about this partnership with DNA Direct. In gist, GMI will provide El Camino physicians with the clinical support that they need to make decisions about which of these technologies to incorporate into their practice and which not to. Just as importantly, the institute will provide, their patients, through DNA Direct, with access to state-of-the-art genetic counseling so that they can make informed decisions.

Grace: DNA Direct is not a genetic testing company. Where will patients have their tests done?

Jon Friedenberg: Neither the Genomic Medicine Institute nor DNA Direct are going to provide the testing. That’s done by a third party. What we’re doing is providing clinical support tools for physicians and patients so that they can decide which of these genomic-based tests and therapies are the most appropriate for them. We also give them information on where and how to access the tests. For example, for patients, we provide pre and posttest counseling. As I say, if they would like information, or need information, okay, gee I’ve decided to have this test, how do I do that, where do I go, we would provide them with all of that support that they need so that they can access those tests as they wish. We work with both the physician and the patient to help them interpret the results and formulate a course of action to follow based on all the information, including the results from the test.

Read the complete interview after the cut.

Grace: There are thousands of genetic tests available now. How many tests are currently available to your physicians?

Jon: As you suggested, there are about 2,000 genetic tests that are currently available. Most of them are not tests that would be considered appropriate for patients and doctors in a community hospital setting. So, we are focusing on those that have the clearest clinical benefit to our patients and that’s really our focus. We started on the 26th with just nine and each quarter we’re going to add more so that so that by the end of the calendar year, we anticipate having approximately 50 tests that are supported by our clinical support and genetic counseling program. .

Grace: Can you give me an example of tests that are at least available at this point?

Jon: Sure. The BRCA1 and BRCA2 testing for breast cancer patients is one, the Oncotype DX test is another. The tests are not all cancer related. They cross multiple subspecialties and of course, as we add more and more tests, that will become even more true.

Grace: So physicians have the opportunity to recommend tests to their patients, but patients also can come to their doctor about a certain information or test that they heard about somewhere?

Jon: Right. Well, what we’re hoping is that our support service will help to inform both patients and physicians and will facilitate greater communication between the patient and the physician regarding these genetic tests. It’s true that there are a lot of patients out there that will read something online, or in the paper or see in on television and they’ll say, “Gee, I want that.” I think that for most genetic tests, if not all genetic tests, but certainly most genetic tests, it’s wise to make sure that you have, as a patient, considered everything that you ought to consider before ordering these genetic tests. By providing access to state of the art genetic counseling and the support to your physician, we’re hoping that will facilitate communication between physician and patient.

I will say that I know that there are sometimes patients who access these tests directly without consulting with their physician. They get their results, they go to their physician and say, “Okay, now what do I do?” We’ll provide support to our physicians and their patients when they’re in that situation, as well, but what we’re hoping to do is avoid that situation by providing the patients with access to the genetic counseling before they decide to take a test. As the question correctly suggests, there are many tests that not every patient is a good candidate for. There is pretest counseling that can help people to determine whether or not this is something they really should do.

Grace: Knowing one’s risk for anything is just part of the equation, at least that’s my opinion. It’s really managing it and having someone guide you into what to do next. That’s basically what this would be more about, not just the genetic testing.

Jon: Right. We’re not cheerleaders. We’re not jumping around telling everybody they should get genetic tests. What we’re recognizing is that genetic testing and genomic-based therapies are here and they’re here to stay. In many cases, they can be extremely powerful and important tools for physicians and patients. Powerful tools that can improve patient outcomes. What we want to do is facilitate the responsible adoption of those tests and those therapies that are appropriate for our physicians and our patients. We’re a nonprofit organization and we are providing this counseling to our community separate and apart from the revenue model that exists for the testing services themselves. We don’t get a piece of the action. We don’t get a kickback and I say that just to make clear that the counseling service and the testing entities are completely separate.

Grace: Okay, that’s really good to know. Are there going to be genetic counselors in the consultations?

Jon: We have, through our relationship with DNA Direct, genetic counselors who will be available to provide, and these are all board certified genetic counselors, they will provide direct and specific genetic counseling to the patients of our physicians.

Grace: Would the support extend to the patient’s family or other relatives who may have the same risk factors or be affected with the same condition as the patient?

Jon: Yes there is. That’s built into the equation. As with inherited diseases, there is a need to at least consider communicating your test results or your pretest decision process to family members. There is support within the Genomic Medicine Institute for reaching out to family members and also providing family members with genetic counseling, as well.

Grace: What’s your initial response from your physicians and their patients?

Jon: The response has been very, very positive. We only just did launch it on March 26, so we’ve had some patient response, but I think it’s very, very early in the process. The physicians we’ve been talking to for a while about this and there’s very significant positive response and they feel that this will enable them to bring this technology to their practice and to their patients sooner than they otherwise could. They’re excited about that opportunity.

Grace: Will this be open to physicians in the greater Silicon Valley area do you have to be a physician or patient in your hospital?

Jon: No. This is a service we’re providing to our physicians and their patients. If there are people who are not a patient of one of our physicians, and they want to access the service, then they can become a patient of one of our physicians and access the service that way. It’s not practical for us to provide this kind of service to the entire universe, as much as there might be a need for someone to provide this service to the universe. We are limiting it to our physicians and their patients.

Grace: Well, I think more hospitals need to have this in place too.

Jon: Well, they say that imitation is the sincerest form of flattery. If other hospitals step up and do something comparable, then we’ll consider ourselves flattered and that would be great. We’re doing it because we think it’s the right thing to do for our patients. We’re excited about it.

Grace: I’m excited about this too, thank you very much, Jon. It’s been a pleasure talking with you.

Jon: Great.

Finding the genes for myopia

A person with myopia can see closer objects better than distant objects (which appear blurred). A person with “high” myopia is so extremely nearsighted that only objects that are very near can be seen clearly, rendering the person as blind. Whereas a person with “mild” myopia may see object farther away as blurry but the person’s eyesight can still function.

blurred-scene

A blurred vision.

Like most research in genetics, finding the genes for myopia has not been straightforward or easy. That’s because myopia has been defined, measured and classified in many different ways, in different studies. There’s high versus mild myopia or school versus adult myopia. How myopia is measured also differs from one group of scientists to another. And then there are the known and unknown environmental factors that influence how and why a person develops myopia! In scientific studies, it is often advised (and very helpful) to have the environment totally under controlled, and held the same across experiments. So this lack of uniformity between studies has prevented a more thorough and comprehensive analysis of the genetics. It’s rather overwhelming and frustrating!

Progress has been made in recent years, though. The more detailed article is found here, but in gist, potential genes for myopia have been identified:

Studies in “high” myopia found very strong evidence for autosomal myopia loci in chromosomes 18 (named MYP2 gene),  12 (MYP3) and 17. Studies in “mild” myopia identified several loci that may be partly responsible for myopia, including those in chromosome 11 (PAX6 gene region) and 22.

However, in many cases, further research really have to be done before someone can say “Eureka! I found it!”

image: flickr

Can too much reading cause eye problems?

Has your mom ever told you not to watch TV too closely? Have you been told as a child that reading too much (or cross-stitching too much) will hurt your eyes? That’s not too far out an idea, at all.

Myopia or nearsightedness.

Severe myopia or nearsightnedness. Image: Flickr

Myopia or nearsightedness is a condition where one has trouble seeing objects that are farther away. Symptoms, usually developing in early childhood and teen years include squinting when trying to concentrate on an object far away, or holding an object very close to the face (to read, or to see it clearer). The person may want to sit very near the TV or computer close, and prefer to sit in the front of the class.

But does this mean that close-work and intensive reading cause eye problems?

Studies have shown that myopia is more common in some populations, such as the Ashkenazi Jews and Taiwanese where intensive studying and reading are encouraged; and in Singapore where certain jobs are visually-demanding. So certain kinds of exposures and tasks may contribute to myopia. BUT this is only part of the story.

Genes also play a major part, and plenty of studies already show that myopia is passed from parents to children. For example, myopia is more common in children of myopic parents than children of non-myopic parents.

So if scientists can identify myopia genes, treatments can specifically be created for children who are genetically more likely to develop myopia. Perhaps drug or gene therapies can even help make the condition less severe.

Tomorrow, we’ll look at some of the promising findings that point to genetic  factors of myopia.

image: Flickr

Designer molecules that seek and destroy cancer cells

Aggressive cancer treatments like chemotherapy works by killing diseased cells. But these therapies also harm healthy cells and leave the patient weak and more vulnerable to other complications. But a promising technology developed at Stanford University kills diseased cells ONLY!

Researchers led by Christina Smolke have developed “intelligent molecules” that can go into the cells and look for biomarkers (changes in the abundance of proteins or other biomolecule levels) before acting to either destroy or leave the cells alone. Only cells that have the biomarkers are destroyed by the molecules.

Intelligent molecules can be used in many different applications in therapies. Cancer treatments alone can benefit tremendously as the molecules destroy cancer cells and leave the healthy ones intact. In other applications, the molecules can also target specific cell functions or behavior in a diseased cell that need to be controlled. They can identify viral infections at the molecular level. They can determine the cells’ responses to certain drugs or immune response.

Science Daily has a detailed report here – Engineers Create Intelligent Molecules That Seek-and-destroy Diseased Cells.

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