Personalized genetic testing not recommended
May 22nd, 2012
05:00 PM ET

Personalized genetic testing not recommended

Getting personalized genetic tests that can pinpoint your risk of developing a number of diseases like cancer, diabetes, Alzheimer's or heart disease are not yet "ready for prime time," according to a new recommendation Tuesday from the American College of Obstetricians and Gynecologists

ACOG says while these tests could be important tools down the road, right now they should only be used in a clinical trial setting, where experts can put the information into a proper context.

The College published their opinion "Personalized Genomic Testing for Disease Risk" in the June issue of Obstetrics & Gynecology.  The advocacy group says the lack of rigorous scientific evidence that the tests are valuable and improve clinical care was the basis for the opinion.

Experts are concerned that a genetic test could tell a patient they have no markers for colon cancer, which could lead someone to get the false impression that they won't get the disease and possibly forgo colon screening. On the flip side, genetic testing may reveal that a woman has a 1% risk of getting breast cancer, which could get her very freaked out about getting breast cancer, even though her risk may still be minimal compared to other women without the genetic marker.

"All results require careful interpretation since the result will be affected by other factors such as medical or family history. There is also the potential hazard of a misinterpreted or inaccurate test result, " says Dr. Nancy Rose, Chairman of ACOG's Committee on Genetics.

Dr. Melissa Fries, Director of Genetics and Fetal Medicine at MedStar Washington Hospital Center in Washington supports the new directive.

"Genetic testing in general has great power if done for specific indications. We do not know yet the value of tests that may measure minor increases or decrease in the development of disease."

Since the human genome was mapped in 2001 the promise of personalized medicine and genetic testing has been one of medicine's holy grails. Hundreds of genetic variations have been linked to diseases like cancer, but few have been the focus of research that has translated into treatments for patients.  As for when these kinds of test will be "ready for prime time?" Rose says the time frame is currently unknown.

In 2008, ACOG announced their position discouraging people from getting the DNA tested by using home genetic tests you can buy on the internet because they were concerned about "the potential harm of misinterpreted or inaccurate results."

However ACOG does support patients get genetic testing for certain diseases like the BRCA 1 & 2 mutation that increases the risk of breast cancer, Cystic Fibrosis, Fragile X syndrome, the most common form of learning disability and cognitive impairment (occurring predominately in boys), and Tay-Sachs disease, a fatal genetic disorder.

soundoff (12 Responses)

    Indeed, I think we should probably put the highly penetrant mutation on the Chip, rather than something with 1% association. People freak out without a good reason. But when the technology mature, I see a lot of potential in this business. Hell I think most people would wanna know what kind of disease their children might get.

    May 23, 2012 at 08:28 | Report abuse | Reply
  2. Sadie Boyd

    I would like to have my daughter to have genetic testing because our family is weak with genetic disorders, she dodged the bullet, but wouldn't testing help her decide about future children?

    May 23, 2012 at 08:44 | Report abuse | Reply
  3. lorimartin15

    As a parent of a child with a fatal and undetectable genetic mutation, Mitochondrial disease – Complex 5 / Leigh's I believe it's a smart thing for adults to be tested for prior to creating a child. If they know what sort of genetic markers or mutations they have, they might be able to eliminate a lot of future pain. However, no test is 100%. If you are a carrier of something that they don't test for, then you'll never know. I realize this article isn't focused on genetic testing for kids, but at the end of the day, early intervention is key.

    May 23, 2012 at 12:00 | Report abuse | Reply
  4. Delia

    I'm tired of the so-called "experts" thinking they should decide what information I have about myself, and where I should get it. I've had genetic testing done, and it's very interesting and informative. I have not "freaked out" about anything, nor do I think that because I have an apparent low chance of getting breast cancer and a number of other diseases that I won't get those diseases. The people I know who have had genetic testing done are well-read on the subject, and know what the results mean. We don't need to PAY any "expert" to interpret for us. It's all about the money – genetic testing will cost far more if we have to pay someone to interpret for us – stop trying to dumb everything down – it's not that hard to understand.

    People – research the companies that offer the testing and choose carefully. Educate yourself, and don't buy into the idea that big (medicine) brother must interpret for you.

    May 23, 2012 at 16:09 | Report abuse | Reply
  5. justannesopinion

    If someone wants to pay for information about his or her own body, whether it's out of idle curiosity, hypochondria, or whatever other motive, that is the individual's decision. Undoubtedly, some people have less than ideal reactions to things they learn. That has always been the case. If an expert, self appointed or otherwise, wants to say, "I do not think these tests are valuable and I will not be getting one," fine. An expert who tries to warn the public off of tests, "because I think you are too stupid to interpret them," comes across as arrogant and will influence nobody, so why bother.

    May 23, 2012 at 16:36 | Report abuse | Reply
    • WHH

      you are absolutely right. They just assume people can't handle the truth. Well as a geneticist, I probably know more about interpreting those risk alleles than OBGYN doctors.

      May 24, 2012 at 08:55 | Report abuse |
  6. Andrew

    the technology becoming more mature isn't going to stop people from freaking out. the technology isn't the problem- new sequencers are coming this year that can sequence a genome incredibly fast and cheaply (and with high accuracy)- doctors not communicating with their patients to give them context is the problem.

    May 23, 2012 at 17:59 | Report abuse | Reply
  7. trish

    A friend of mine had this type of testing done to determine if she would contract breast cancer and ovarian cancer, she was 35 at the time and her mother had died of breast cancer a few years before, so she decided to get herself tested to see what her odds would be. She determined that since she had some genetic markers it would be best to do the following: she had a complete hysterectomy at the age of 36, and this year she decided to have a double masectomy with a full breast reconstruction. To me this seems a little extreme b/c there is no guarantee that she may or may not have every contracted either of these illnesses. Then their is also the false sense of security that says, I am may never get anything else and live forever. I understand her reasoning based on the small percentage that the tests came back as, but still, to me, its a little freaking out and body augmentation seems extreme.

    May 24, 2012 at 09:37 | Report abuse | Reply
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