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Couples Want Preimplantation Genetic Test

Couples at high risk for genetic disorders would prefer to have pre-implantation genetic diagnosis (PGD) rather than risk terminating a pregnancy later, a study from Fertility and Sterility Journal showed.

Preimplantation genetic diagnosis (PGD) is performed after in-vitro fertilization where an embryo is tested for mutations that can lead to genetic defects, before being implanted into the uterus. Obviously, PGD reduces the need for prenatal genetic testing in the middle of a pregnancy, and avoid having to choose between terminating or continuing on with the pregnancy.

The study showed that among 210 Dutch couples with genetic disorders, 60% would prefer diagnostic testing and, of these 74% preferred PGD over prenatal testing. Couples who are high risk for specific disorders and where there are definitive genetic tests available, like breast cancer, would benefit from this procedure. There was a report earlier this year of the first “designer baby” born free a risk of breast cancer (she does not have the BRCA1 in her genes).

But I’m not sure that PGD would eliminate passing on all possible genetic mutations to the offspring, especially in complex diseases like heart diseases where there are just too many factors (genetic and environment) that can affect one’s inheritance of a disease.

H/T – LA Times Blog 

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Post from: Genetics & Health

New Test Catches Illness Before Symptoms

This is common with most infections, but especially scary when it comes to the flu. You may have already passed the virus to someone even before you showed signs that you were sick. Case in point – the swine flu: the range of transmission is one day before showing symptoms up to seven days after getting sick.  Until your fever spiked you will have no idea that you’re sick with the flu, or any infection for that matter.

But scientists from Duke University say that may all change in the future. Geoffrey Ginsburg and his colleagues have developed an experimental genetic test that can detect infections before symptoms appear. Now that’s a landmark discovery don’t you think?

You can just go to your doctor’s office and get yourself tested and find out if you are before you show symptoms! What’s more beautiful about the new test is its ability to distinguish if a virus or a bacteria infected you, which translates to the kind of care and medication that you will need. You would know if you or your child really needs that antibiotic. This kind of test will also be extra-helpful in quarantining infections early enough to prevent transmission. The swine and seasonal flu viruses are notorious for transmitting themselves to others before symptoms appear in the primary victim. 

The experimental genetic test accomplishes early-detection by looking for a gene that gets activated when there is an invader. The study appeared Thursday in the journal “Cell, Host & Microbe”.

Image: Newscom

Post from: Genetics & Health

Jude Law wants DNA Test on Unborn Child

Here’s a news that would have made it to the Maury Show. Actor Jude Law (36) wanted to get a DNA test to make sure that he is the father of the baby that girlfriend Samantha Burke (24) is carrying. Burke and Law had a summer fling while he was working on the movie “Sherlock Holmes”, and when she became pregnant, Law wanted a DNA test on the unborn child.

Hollywood actor Jude Law wants DNA test for unborn child.

So I guess Jude Law isn’t sure he’s the father? Oh well, that’s not my business. One usually wants to establish paternity (among other things) because it settles legal and social benefits for the child, as well as give the child an accurate medical history.

But prenatal DNA testing does not come without risks.

Testing for chromosome abnormalities are the usual reasons for wanting to do DNA testing, and this is usually not done for every pregnancy since there is a risk to the procedure. But the procedures for DNA testing are the same whether it’s for abnormalities or paternity.

Amniocentesis for prenatal DNA testing

In amniocentesis, the test is performed in the second trimester when a thin needle is inserted into the uterus through the abdomen. A small amount of amniotic fluid is drawn out and tested for abnormality or paternity.

In chorionic villus sampling (CVS), the test is done earlier in pregnancy (from 10th-13th week). A needle is inserted into the vagina and chorionic villi (finger-like tissues on the uterine wall) are taken for sampling. The villi has the same genetic make-up as the fertilized egg.

The most dangerous risk for both procedure is miscarriage.

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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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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 26^th 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.

Concerns about ancestral DNA testing, by genetics society

Did you know that Angelina Jolie is a distant cousin of Camilla the Duchess, Madonna, Shania Twain AND Hilary Clinton?

Man has an innate itch to find out where he came from, be it by evolution or ancestry. In a way it helps us connect with people from our past and gives us roots. So it’s no surprise that DNA testing for ancestry or population of origin has mushroomed in the past few years with the growth of direct-to-consumer companies.

Now, the American Society of Human Genetics is concerned about the implications of carrying out such tests without guidelines and oversight. The society presented a recommendation paper to the academe, and to the 30 companies involved in ancestral genetics testing.

Image credit: Newscom

Some of those concerns include accuracy of markers used in testing, the methods of interpreting results, the power of the tests, and that there is no quality assurance guarantee in the DTC ancestry industry. Another concern relates to the presence of diseases and other risk factors associated with one’s ancestry and race.

I’m sure there are other means to finding out one’s ancestry with more accuracy, and physical genealogy records may give better, more detailed clues. The ancestral family tree of Angelina Jolie? That was discovered when old Canadian family tree records were published. The report said they all share the same nose. Who knows… you may be related to someone famous too, if you look up old manuscripts, and you don’t need DNA testing for it too.

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